Journal of Medical Genetics 1999: Vol 36 Index

23 Pages·1999·8.9 MB·English

7 Med Genet 1999;36:945-955
VOLUME 36: AUTHOR INDEX >
Aalfs CM see Bijlsma EK et a Ballesta F Soler
Aalto A-M< see Jarvinen O et al Ballhausen WG
Aaltonen LA se — RW et al Balmer D
e Loukola Ae Bankier A ankier A
e Wang Z-] ¢ avariravan
Asien, L-M see °Cc hen RW « Basber JCK
Abada-Bendid M see Didierjean 10 et al e Gibbon
Abbs SJ see Smith TA er al Barfoot R
Abdulrazzaq YM see Amiri ak I et al Barone V C ng of the RYRI gene and
Abe K see Mizushima Keet al ide itification of two novel mutations in Italian malignant
Abidi F see Villard L hyperthermia {
Abu- Amnere KK s Abu- Amero SN et al Barton L
see P reece MA ela Bartsch O 75Se e con ations and gastric carcinoma in
Abu-Amero SN see Preece MA et a Mulvihill syndrome tter, 175
Abu-Amero SN e a/. An analysis of common isodisomic regions in Bastrop R ta
five mUPD 16 probands, 204 Baumbach L 1
AcheamponJgW see Jeffery S et ai Beales PL riteria for improved diagnosis of Bardet-Biedl
Adams C see Waldron-Lynch F et syndrome: results of a population survey, 437
Adinolfi M see Pert! B et al Beardsall K la Neta
Affara NA see Sargent CA et al Beatty B Ker
Aguiar MJB see Vercesi AML Beck J El-Shanti
Ajlouni K see El-Shanti H er ai Beck M< see Bung
Akar N see Is onia anos G et al Beemer FA Boltshauser |
Akarsu N see Zguricas J et a/ Belaich S Portnoi M-]I
Al-Awadi SA see Tayel SM ¢ Belal S Didierjean O
Algar EM ez al. COKNIC expression in Beckwith-Wiedemann Bellows AB
syndrome patients with allele imbalance, 524 Belougne J
Al-Gazali L see Amirlak I er a/ see V ill ard I
Al-Gazali LI ez a/. Absent pituitary gland and hypoplasia of the Beltran- Valero de rey abe D Mutational analysis of the
cerebellar vermis associated with partial ophthalmoplegia and HGO gene in Finnis iulkaptonuria patients, 922
postaxial polydactyly: a variant of orofaciodigital syndrome VI or Benitez J see Sanc I é
a new syndrome?, 161 Benomar A see Didierjear
Complex consanguinity associated with short rib-polydactyly Bentsi-Enchill E
syndrome III and congenital infection-lik e syndrome: a diagnostic Bernard JP
problem in dysmorphic syndromes, 461 Besley G Shim«
Alho A see Beltran-Valero de Bernabé D er al Bespalova IN
Ali Z see Abu-Amero SN ez al Bessant DAR
see Preece MA et al Bevan S ‘the MHC region to the familial risk of
Aliberti F see de Brasi D er al coeliac dise
Allanson JE et al. The face of Smith-Magenis syndrome a subjective Bhattacharya SS
and objective study, 394 Biarnes J Sanchez
Allen-Powell DR see Wilcox SA et ai Biesecker L
Al-Naggar RL see Tayel SM er al Biggs P
Alpert L see Yuan ZQ et al Bignon JD
Al-Salem M<« see El-Shanti H er a/ Bignon Y-]
Al-Shahri A see El-Harith E-HA et a! Bijlsma EK ryptic translocation between
Altuntas B see Loudianos G et al chromosomes 2qter an¢ i 8qter: further delineation of the
Amiel J see Bonnet D er a/ Albright hereditary osteodystrophy- like phenotype, 604
ee Manouvrier-Hanu §S ez al Bird AC Payne AM
Amiel J er a/. Epiphyseal, vertebral, and ear (EVE dysplasia: a new Biros I, = S. Spinal muscular atrophy: untangling the knot?:
syndrome?, 561
Amirlak I e7 a/. A syndrome of immune complex glomerulonephritis Mishap DT e Froggatt NJ
and ophthalmic abnormalities, 641 Bitoun P see David A et a
Amoah-DanquahJ see Jeffery S er al Bjarnadottir K see Tulinius H
Amor D et al. 46,XX/46,XY at amniocentesis in a fetus with true Black GCM see Doward W et a
hermaphroditism: letter, 866 Blackwell JM Searle S and Blackwell JM
Amorim A see Munar-Qués M et al Bland M< see Jeffer tal
Andrassi M see Gehrig A et al Bleik J see Mégar ¢
Andreutti-Zaugg C see Yuan ZQ et a Blennow E, Sahleén S. Rescue from the effects of trisomy
Andrews RM< see Chinnery PF er a/ 13q32—qter owing to skewed X inactivation in a
see Chinnery PF et al der(X)t(X;13)(p21;q32) carrier: letter, 718
Andria G see de Brasi D et al Bobba A . 21-hydroxylase deficiency in Italy: a distinct
Angius A see Loudianos G et al distribution pattern of CYP2/ mutations in a sample from
Anthony K see Yuan ZQ et al southern Italy: /etter, 648
Antinolo G see Borrego S et al Bobrow M Smith TA et a
see Sanchez B et al Bogdanow A see Shanske AL et a
Aoki M see Mizushima K et al Boltshauser EJ et ai. Coexistence of Gaucher disease type 1 and
Aradhya §S see Heiss NS et al Joubert syndrome: /etter, 870
ArslanE see Murgia A et al Bomford AB see Walker AP et a
Arslanian A see Di Rocco M er al BonaventureJ see Lajeunie E et al
Arvio M see Arvio P et al Bonduelle M see Goelen G«e t
Arvio P ez al. Overgrowth of oral mucosa and facial skin, a novel Boner AL Trabetti E «
feature of aspartylglucosaminuria, 398 Bonino M-C see Villard L
Audrézet MP see Férec C et al Bonne G sex Ric hard P et al
Austin-Ward ED, Taucher SC. Familial congenit: wdd iz _ agmatic Bonnefont J-P see Villard L et al
hernia: is an imprinting mechanism involved?: letter, $78 Bonnet D et a Tricuspid atresia and conotruncal malformations in
Avizienyte E see Chen RW et al five families: /etter, 349
see Wang Z-J et al Boogaerts A se Decruyenacre 4 et al
Book reviews Milunsky A, editor. Genetic disorders and the fetus.
Bagolan P see Digilio MC et al Diagnosis, prevention anc f treatment, 655
Bakir M< see Al-Gazali LI ez al Borck G see Wirth J et al
Bakker E see van der Maarel SM et al Borrego S see Sanchez B et al
Bakker L see van Slegtenhorst M et al Borrego S et al. Specific polymorphisms in the RET proto-oncogene
Bakker PLG see Laan LAEM et a/ are over-represented in patients with Hirschsprung disease and
Bakker R see van Slegtenhorst M et al may represent loci a phenotypic expression, 771
Bakker W see ZguricasJ et al Borrelli P see Stuppia L
Author index
Borrone C see Di Rocco M et al Celebi JT et a/. Phenotypic findings of Cowden syndrome and
Botta A et al. Detection of an atypical 7q11.23 deletion in Williams Bannayan-Zonana syndrome in a family associated with a single
syndrome patients which does not include the STX1A and germline mutation in PTEN, 360
FZD3 genes, 478 Chandler M< see Christianson AL et al
Boucher CA see Sargent CA er 2! Chang-Claude J see Shugart YY er a/
Bouscarat F see Portnoi M-F et al Chapman P see Shankar A ert al
Boutchnei S see Portnoi M-F ez a/ Charron P see Richard P et al
Bouvier R see Faivre L er al Chen FF see Celebi JT et al
Bowden DW see Hart TC et al Chen RW et al. PTEN and LKB! genes in laryngeal tumours: /etter,
Bracco A see Barone V et al 943
Bradshaw JM see Cornish KM er al Chinnery PF ez a/. Clinical mitochondrial genetics: review, 425
Brady AF er ai. Clinical and molecular findings in a patient with a Mitochondrial DNA analysis: polymorphisms and pathogenicity:
deletion on the long arm of chromosome 12 : /etter, 939 review, 505
Braegger CP see Bevan S et al Chitty L see Lees MM et al
Brambati B see Pertl B et al Chong WKK see Hoveyda N et al
Brassett C see Froggatt NJ er a/ Choo KHA see Slater HR et a/
see Verma L et al Choueiri R see Mégarbané A et al
Brecevic L see Utkus A er al Chowdhury T see Reardon W et al
Breedveld G see Zguricas J et al Christianson AL et a/. X linked severe mental retardation,
Breen CJ et al. Applications of comparative genomic hybridisation in craniofacial dysmorphology, epilepsy, ophthalmoplegia, and
constitutional chromosome studies, 511 cerebellar atrophy in a large South African kindred is localised to
Breines E see Fagerheim T ez a/ Xq24-q27, 759
Bremer M< see Dork T er al Christophis P see Steinberger D ert a/
Breukel C see Kartheuser A et al Churchman M< see Wang Z-J et al
Breuning MH see Brooks AS et al Cibis GW see Fitzgerald KM et a/
Briard M-L see Faivre L er al Ciccodicola A see Heiss NS et a/
Briault S see Villard L er al Claes S see Stromme P et al
Brice A see Didierjean O et al Claustres M see Romey M-C et a/
see Dirr A et al Clayton-SmithJ see Slavotinek A et ai
Briones P see Muro S et al Clenaghan C see Tischkowitz M et al
Britton K see Reardon W et al Cloostermans T see Decruyenaere M er a
Brondum-Nielsen K see Wirth J et a/ Coelho T see Munar-Queés M et al
BrookJD see Hamshere MG er al Coéslier A see Manouvrier-Hanu § et al
Brookfield JFY see Hamshere MG et al Coffey R see Reardon W et al
Brooks AS ez a/. A consanguineous family with Hirschsprung Cole GF see Moore SJ et al
disease, microcephaly, and mental retardation Cole TRP see Lam WWK et al
(Goldberg-Shprintzen syndrome), 485 Colleaux L see Villard L er al
Brown G see Sargent CA et al Collins FS see Hacia JG and Collins FS
Brox V see Fagerheim T er a! Conn CM er al. Preimplantation genetic diagnosis for couples at high
Budarf ML see Kerstjens-Frederikse WS et a/ risk of Down syndrome pregnancy owing to parental
Bugge M see Wirth J er al translocation or mosaicism, 45
Bunge S er al. Mucopolysaccharidosis type IIIB (Sanfilippo B): Conway G see Murray A et al
identification of 18 novel a-N-acetylglucosaminidase gene Cook L et al. De novo 10q22 interstitial deletion, 71
mutations, 28 Cooke H see Sargent CA et al
Buonadonna AL see Gentile M et a/ Cormier-Daire V see Amiel J et al
Burgoyne P see Sargent CA et al see Faivre L et al
Burk K see Didierjean O et al Cornelisse CJ see Lodder LN et al
Burmeister M see van Camp G et al Cornish KM< er a/. A neuropsychological-genetic profile of atypical
BurnJ see Kartheuser A et a/ cri du chat syndrome: implications for prognosis, 567
see LilingJ et al Correia AJ see Saraiva JM et al
Burn J. Closing time for CATCH22: commentary, 737 Cortelli JR see Shashi V ez al
Busch A see Bevan §S et al Costa D see Soler A et al
Buys CHCM see Brooks AS et al Couch FJ see Carroll BT et al
see Kerstjens-Frederikse WS et al Coucke PJ ez ai. Identification of two different mutations in the PDS
see Kok K et al gene in an inbred family with Pendred syndrome, 475
Cour C see Shugart YY et al
Cabot A see Rozet J-M er al Coyle E see Coucke PJ et al
Caesar J see Guttenbach M et al Cozzi J see Conn CM et al
Caillaud C see Méegarbané A et al Cozzolino §S see Barone V et al
Calabrese G see Stuppia L et al Craddock N, Jones I. Genetics of bipolar disorder: review, 58
Caldas C et al. Familial gastric cancer: overview and guidelines for Cremers CWRJ see van Camp G et al
management: review, 873 Crickx B see Portnoi M-F et al
Callahan C see Margolis RL et a/ Crino A see Stuppia L et al
Callen DF et al. Origins of accessory small ring marker Crolla JA see Robinson DO et al
chromosomes derived from chromosome 1, 847 Croquette MF see Manouvrier-Hanu §S er al
Callison SA see Hart TC et al Crosby A see Jeffery S et al
CameronJ see Hodgson SV et al Cross G see Cornish KM et al
Campbell RD see Lako M et al Cross I see Liling J et al
Campbell RHA see Slavotinek A et al Cuesta A see Garcia-Planells J et a/
Campos A see Mosquera A et al Cuisset L see Dupont J-M er al
Cancel G see Didierjean O er al Curtis A see Kartheuser A et ai
Cao A see Loudianos G et al Cytrynbaum C see Kerstjens-Frederikse WS et al
Carey A see Breen CJ et al
Cariola F see Gentile M et al
Carles S see Romey M-C et al Dacou-Voutetakis C et ail. Insulin dependent diabetes mellitus
Carneiro F see Caldas C et al (IDDM) and autoimmune thyroiditis in a boy with a ring
Carothers AD er ai. International variation in reported livebirth chromosome 18: additional evidence of autoimmunity or IDDM
prevalence rates of Down syndrome, adjusted for maternal age, gene(s) on chromosome 18, 156
386 da Fonseca N see Saraiva JM et al
Carrier L see Richard P et al Dagna-Bricarelli F see Di Rocco M et al
Carrio A see Soler A et al Dahl H-HM see Wilcox SA et al
Carroll BT ez al. Polymorphisms in PTEN in breast cancer families, Dallaire L see Farrell SA et al
94 Dallapiccola B see Botta A er al
Carvalho MRS see Vercesi AML ert al see Digilio MC et al
Casey E see Amor D et al Dalton P see Robinson DO et a/
Cassiman JJ see Decruyenaere M et al Daniel CP see Liling J et al
Cassiman J-J see Stromme P et al Darnfors C see Wahlstrém J et al
Castel T see Ruiz A et al Da-Silva EO see Leal GF and Da-Silva EO
Catsman CE see Brooks AS et al David A et al. Hydrometrocolpos and polydactyly: a common
Catsman-Berrevoets CE see Laan LAEM et al neonatal presentation of Bardet-Biedl and McKusick-Kaufman
see Voznyi YV et al syndromes, 599
Author index
Davies AF ez a/. An interstitial deletion of 6p24-p25 proximal to the see Lodder LN eta
FKHL/7 locus and including AP-2a that affects anterior eye Dunham I see Gardner RJ
chamber development, 708 Dunlop A see Breen CJ et al
Davies § see Tischkowitz M et al Dupont C Férec (
see Wang Z-J et al Dupont J-M ez a/. Unexpected Angelman syndrome molecular defect
Davis AC see Parker MJ et al in a girl displaying clinical features of Prader-Willi syndrome:
Dawodu A see Al-Gazali LI et al letter, 652
Dean JCS see Moore SJ et al Durand C Sargent CA
de Brasi D ez a/. Cloverleaf skull anomaly and de novo trisomy 4p Durr A Did ean O et a
letter, 422 Durr A et al. H Ozyzosit y in Huntington’s disease: /etter, 172
de Cordoba SR see Beltran-Valero de Bernabé D er ai D’Urso M see Heiss NS
Decruyenaere M< er ail. Psychological functioning before predictive
testing for Huntington’s disease: the role of the parental disease, Earle E see S ater HR
risk perception, and subjective proximity of the disease, 897 Easton D see Shugart YY et a
de Die-Smulders CEM see Janssen HCJP er al Eastwood JB see Jeffery S et a
Deeble GJ see Algar EM er al Eccles D see Shugart YY et 2
de Gréve J see Goelen G et al Edwards YH see Papapetrou C er a
Deichmann KA ez a/. Linkage and association studies of atopy and Eeles RA Hodgson SV et al
the chromosome 11q13 region, 379 Eich G see Superti-Furga A et al
Deidda G see van der Maarel SM et al Elcioglu N see Beales PL et ai
Deineko NL see Ivanova-Smolenskaya IA et al El Ghouzzi V see Lajeunie E et a
de la Chapelle A see Loukola A er al Elhaji Y see van Orsouw NJ ez a
see Lynch HT and de la Chapelle A El-Harith E-HA ez ai. Identification and clinical presentation of 8
Delaroziere JC see Moncla A et al thalassaemia n ns in the eastern region of Saudi Arabia:
Delatycki MB see Amor D et al letter, 935
Delatycki MB er a/. Directly inherited partial trisomy of illis D Hodgson SV
chromosome 6p identified in a father and daughter by lis I see Wang Z-] et a
chromosome microdissection, 335 -Najjar M see El-Shanti H ez
Delezoide A-L see Odent S et ai sawi MM < see Brady AF et a
Delezoide A-L see Faivre L et al 21-Shanti H ez a/. A nonsense mutation in the retinal specific
Delhanty JDA see Conn CM et al guanylate cyclase gene is the cause of Leber congenital amaurosis
de los Angeles Ibanez M see Valero R et al in a large inbred kindred from Jordan: /etter, 862
Delpech M see Dupont J-M ez al Emanuel BS see Kerstjens-Frederikse WS et al
Demaille J see Romey M-C et al Emmerich P see Schuffenhauer S et al
Demirhan O see Coucke PJ er a/ Eng C see Borrego S et al
Demyttenaere K see Decruyenaere M er al see Myers SM et al
Denavit M-F see Dupont J-M ez al see van Orsouw NJ et a
Dennis N see Murray A et al Esposito T see Heiss NS et a
Denton MJ see Gu S-M et al Estivill X see Rabionet R and Estivill X
Derry C et al. A probable case of familial Weaver syndrome see Ruiz A et al
associated with neoplasia: /etter, 725 Evans DGR Douglas FS
Dersarkissian H see Portnoi M-F er al see Froggatt NJ et a
Dessi V see Loudianos G et al see McGaughran JM
Detry R see Kartheuser A et al see Verma L et a
Devilee P see Lodder LN er al see Wang Z-J et a
Everett LA see Coucke PJ et a
see Shugart YY et al
Evers-Kiebooms G see Decruyenaere M et al
Devriendt K ez a/. Triplication of distal chromosome 10q, 242
Eyre H see Callen DF
de Vries BBA see Macpherson J et al
de Vries BBA er a/. Dilemmas in counselling females with the fragile Faber H Kok K et al
X syndrome, 167 Fagerheim T ez a/. A new gene DY X3) for dyslexia is located on
Screening for the fragile X syndrome among the mentally retarded chromosome 2, 664
a clinical study, 467 Homozygosity mapping to the USH2A locus in two isolated
Dhanda RK see van Orsouw NJ et a/ populations, 144
Didierjean O et a/. Linkage disequilibrium at the SCA2 locus, 415 Faivre L ez al. A new lethal syndrome of exomphalos, short limbs,
Dietrich NL see Coucke PJ et al and macrogonadism, 131
di Gilio MC see Stuppia L er al Falth-Magnusson K see Bevan S et al
Digilio MC see Botta A et al Fang Y-Y see Callen DF et al
Digilio MC ez al. Microdeletion 22q11 and oesophageal atresia, 137 Faravelli F ez a/. Unusual clustering of brain tumours in a family
Dijkhuizen T see Kok K ez al with NF! and variable expression of cutaneous features, 893
di Maio S see Bobba A et al Faria E see Saraiva JM et al
Di Martino A see Barone V er al Farrell SA et a/. Club foot, an adverse outcome of early
di Micco P see de Brasi D er al amniocentesis: disruption or deformation?, 843
Dinis A see Saraiva JM et al Faure C see Férec C et al
Di Rocco M< et ai. Ataxia, ocular telangiectasia, chromosome FeingoldJ see Diirr A et al
instability, and Langerhans cell histiocytosis in a patient with an Feingold M. Costello syndrome and rhabdomyosarcoma: letter, 582
unknown breakage syndrome, 159 Férec C et al. Mutations in the cationic trypsinogen gene and
Dobbie Z, Miller H. Germline mutations in the B-catenin gene are evidence for genetic heterogeneity in hereditary pancreatitis, 228
not associated with the FAP phenotype without an APC Ferak V see Plasilova M et al
mutation: etter, 573 Ferakova E see PlaSilova M et al
Dodé C see Diirr A et al Ferguson A see Bevan S et a
Dom R see Decruyenaere M et al see Wang Z-J et al
Donatien Y see Richard P et a/ Fergusson W see Slavotinek A et al
Donnai D see Lam WWK et al Fermont L see Bonnet D er a/
see McGaughran JM et al Fernandez JL see Mosquera A et al
see Slavotinek A et al Fichera M< see Villard L et a/
Dooley JS see Walker AP et al Finnell RH see Shaw GM et al
Dork T et a/. BRCAI expression is not affected by the intronic 12 bp Fiorente P see Gentile M et al
duplication: letter, 262 Firatli E see Hart TC et al
Douglas FS ez al. The accuracy of diagnoses as reported in families Fisher A see Sweeney E et al
with cancer: a retrospective study, 309 Fitzgerald KM ez ai. ERG phenotype of a dystrophin mutation in
Doward W ez al. A mutation in the RIEG! gene associated with heterozygous female carriers of Duchenne muscular dystrophy,
Peters’ anomaly, 152 316
Dowling P see Shanske AL et al Flint J see Slavotinek A et al
Downes SM< see Payne AM et al Flinter F see Davies AF et al
Draaijers TG see Kok K et al see Sweeney E et al
Driscoll DA see Kerstjens-Frederikse WS et al Flinter FA see Beales PL et al
Drummond F see Papapetrou C er al Flothmann K see van Camp G et al
Dubourg O see Richard P et al Fodde R see Kartheuser A et a/
Ducrog D see Rozet J-M et al Fontés M see Villard L et al
Dufier J-L see Rozet J-M et al Fontés M< see Villard L et ai
Duivenvoorden HJ see de Vries BBA er al Forrest S see Biros I and Forrest S
Author index
Forster J see Deichmann KA er al Grossman A see Reardon W et al
Fortnum Hi see Parker MJ er al Gu S-M< et al. Autosomal recessive retinitis pigmentosa locus RP28
Foulkes WD see Yuan ZQ et al maps between D2S1337 and D2S286 on chromosome 2p11-p15
Francis D see Delatycki MB et al in an Indian family, 705
Francova H see Kozak L « al Guan X-Y see Callen DF et al
Frants RR see van der Maarel SM et al Guanti G see Gentile M er al
Franz ML see Margolis RL et al Guillausseau PJ see Ferec C et a
Frets PG see Lodder LN ert al Guillot M see Ferec C et al
Fried M see Tiranti V et al Guittard C see Romey M-C et ai
Fritz B see Kunz J et al Gum JR see Swallow DM et ai
Frizzley JK er al. Ring 22 duplication/deletion mosaicism: clinical, Gunther K see Kraus C et a
cytogenetic, and molecular characterisation, 237 Gusmao L see Munar-Qués M et a
Froggatt NJ ez al. Acommon MSH2 mutation in English and North Gusterton R see Shugart YY er a
American HNPCC families: origin, phenotypic expression, and Guttenbach M< et a/. Ectopic NORs on human chromosomes 4atet
sex specific differences in colorectal cancer, 97 and 8q11: rare chromosomal variants detected in two families
Fryer A see Thomson APJ et al 339
Fryns JP see Decruyenaere M et al
see Moog U et al HaafT see Guttenbach M er
Fryns J-P see Devriendt K et al see Wirth J eta
see Janssen HCJP et al Haan EA see Callen DF et a
see Shashi V er al Hacia JG, Collins FS. Mutational analysis using oligonucleotide
see Stromme P et al microarrays: review, 730
Fujiki Y see Shimozawa N et al Hagberg B see Wahlstrém J et ai
Furlong RA see Narain Y et a/ Hagege A see Richard P et a
Hahn-Barma V see Diirr A et a
Gaa A see Walter K et al Hainque B see Richard P er al
Gal A see Bunge S et al Hale LG see Slater HR et al
Galavotti R see Trabetti E et al Hall K see Breen CJ et al
Gal A see Gu S-M et al Halley D see van Slegtenhorst M ert al
Garcia-Planells J et a/. Genetics of the SCA6 gene in a large family Halley DJJ see de Vries BBA et al
segregating an autosomal dominant “pure” cerebellar ataxia, 148 see Laan LAEM et ai
Gardner RJ et a/. Localisation of a gene for transient neonatal see Macpherson J et al
diabetes mellitus to an 18.72 CR3o9 . (~5.4 Mb) interval on Hamel BCJ er a/. A new X linked neurodegenerative syndrome with
chromosome 6q, 192 mental retardation, blindness, convulsions, spasticity, mild
Gardner RJM see Wilcox SA et al hypomyelination, and early death maps to the pericentromeric
Garrett C see Hoveyda N er al region, 140
see Price SM et al Hamshere MG et a/. Myotonic dystrophy: the correlation of (CTG)
Gary F see Richard P er al repeat length in leucocytes with age at onset is significant only
Gasparini P see Tiranti V er a/ for patients with small expansions, 59
Gatta V see Stuppia L er al Hamzehloei T see Kartheuser A et al
Gaunt L see Slavotinek A et al Hanauer A see Manouvrier-Hanu §S et ai
Gayther SA see Caldas C er al see Villard L et al
Gecz J see Villard L et al Harahap A see Pramoonjago P et a/
Gehrig A et al. First molecular evidence for a de novo mutation in Hargreave T see Sargent CA et al
RS1 (XLRS1) associated with X linked juvenile retinoschisis: Harley H see Hamshere MG et a/
letter, 932 Harper JC see Conn CM et al
Gelsema K see de Vries BBA et al Harper P see Hamshere MG et a/
Gentile M er a/. Molecular and cytogenetic characterisation of an Harper PS see Kehoe P e: al
unusual case of partial trisomy/partial monosomy 13 mosaicism: Harris DI see McGaughran JM et a/
46,XX,r(13)(p11q14)/46,XX,der(13)t(13;13)(q10;q14), 77 Harris DJ see Fitzgerald KM et al
Genuardi M ez al. 45,X/47,XX,+18 constitutional mosaicism: Harris HJ see Harris R and Harris HJ
clinical presentation and evidence for a somatic origin of the Harris R see McGaughran JM et al
aneuploid cell lines: /etter, 496 Harris R, Harris HJ. Clinical governance and genetic medicine.
Gerber S see Rozet J-M et al Specialist genetic centres and the Confidential Enquiry into
Gervil M see Ulrich V et al Counselling for Genetic Disorders by non-geneticists (CEGEN):
Gettel AH see Fitzgerald KM et al letter, 350
Ghazi I see Rozet J-M et al Hart PS see Hart TC et al
Giacchino R see Loudianos G et al Hart TC see Shashi V et al
Giannattasio S see Bobba A er al Hart TC ez a/. Mutations of the cathepsin C gene are responsible for
Giannotti A see Botta A et al Papillon-Lefévre syndrome, 881
see Digilio MC et al Hartsfield JrJ K see Cook L er al
see Stuppia L et ai Hatada I see Lam WWK et al
Gibbons B et a/. Duplication of 8p with minimal phenotypic effect Hayward R see Faravelli F er a/
transmitted from a mother to her two daughters: /etter, 419 Healey SC see MacMillan JC et al
Gil J see Saraiva JM et al Heap E see Hodgson SV et a/
Gil-Benso R see Valero R et al Hecht CA see Carothers AD et a/
Gillessen-Kaesbach G see Kunz J er a/ Hegarty AM< see Breen CJ et al
Gimenez-Arnau AM< see Ruiz A et al Heinzmann A see Deichmann KA et a/
Gimm O see Borrego S et al Heiss NS er a/. Mutation analysis of the DKC/ gene in incontinentia
Glancy M< see Breen CJ et al pigmenti: /etter, 860
Godkin A see Bevan § et al Helderman-van den Enden ATJM e a/. Monozygotic twin
Goelen G er al. High frequency of BRCA1/2 germline mutations in brothers with the fragile X syndrome: different CGG repeats and
42 Belgian families with a small number of symptomatic different mental capacities, 253
subjects, 304 Henderson K see Kerstjens-Frederikse WS et ai
Goessling A see Myers SM et al Hennekam RCM see Bijlsma EK er al
Goldgar D see Shugart YY er a/ see van den Berg H and Hennekam RCM
Goldman A see Padoa C et al Heredero-Baute L see Zguricas J et al
Gomes C see Saraiva JM er al Heuertz §S see Heiss NS et al
Gonzalez-Duarte R see Valero R et al Heus H see Zguricas J et al
GoodshipJ see Shankar A et al Heutink P see Zguricas J et al
Gordon PH see Yuan ZQ et al Hewitt JE see van der Maarel SM et al
Gosalvez J see Mosquera A et al Hii S see Teh BT et al
Goyanes VJ see Mosquera A et al Hinson RM< see Frizzley JK er al
Gravel RA see Shaw GM et al Hirschhorn R, Huie ML. Frequency of mutations for glycogen
Grayson C see Reid E et al storage disease type II in different populations: the A525T and
Green A see Cornish KM et a/ Aexon 18 mutations are not generally “common” in white
Green AJ see Breen CJ et al populations: /erter, 85
Green ED see Coucke PJ er a/ Hoang P see Kartheuser A et al
GreenJ see Froggatt NJ et al Hodgson SV ez a/. Risk factors for detecting germline BRCAI1 and
Greenberg F see Allanson JE et al BRCA2 founder mutations in Ashkenazi Jewish women with
Grehan N see Caldas C et al breast or ovarian cancer, 369
Gribomont A-C see Kartheuser A er al Hofstra RMW see Brooks AS et al
Author index
see Hordijk R et al Karadima G ee Dacou-Voutetakis C et al
see Kerstjens-Frederikse WS et al Karsh NAA see Tayel SM et a
Hogberg L see Bevan S et al KarstensJH see Dork T
Hohenberger W see Kraus C et al Kartheuser A e1
Holde A see Fagerheim T ert al multiple ad
Holde BE see Fagerheim T er a/ mutation, 65
Holmes G see Bevan S et al Kastl S see Kraus C et a
Holmgvist D see Wahlstrém J et a/ Kawakami H Matsuyama Z
Holvoet M see Devriendt K er al Kay SPJ see Zguricz
Hoogendoorn E see Helderman-van den Enden ATJMH et al Keen TJ Inglehearn 2
Hook EB see Carothers AD et al Kehoe P ez ai. Age in Huntington disease: sex specific
Hoovers JMN see Bijlsma EK er a/ influer f apolipoprotein E genotype and normal CAG repeat
Hordijk R ez al. Maternal uniparental disomy for chromosome 14 in length, 108
a boy with a normal karyotype, 782 KellerG see Caldas C et
Horsthemke B see Zeschnigk M et al Kelly KF Moore SJ et a
Hosie KB see Bevan S et al Kendall-Taylor P see Reardon W er a
Houlston RS see Bevan S et a/ Kennedy NP 3evan S eta
Hoveyda N et al. Neonatal diabetes mellitus and cerebellar Kennedy SJ Microcephaly-cardiomyopathy syndrome:
hypoplasia/agenesis: report of a new recessive syndrome, 700 confirmation of the phenotype, 854
Hovius SER see Zguricas J et al Kenwrick S Heiss NS et a
Howaldt HP see Steinberger D er a/ Keppler-Noreuil K Wu Y-Q
Howdle PD see Bevan §S et al Kero M Arvio P
Howell N see Chinnery PF er al Kerr B see Sweeney E
see Chinnery PF et al KerGr see Bevan S et «
Hsieh E see Yuan ZQ et al Kerstjens-Frederikse WS A Hirschsprung disease locus at
Huddart R see Teh BT et a/ 112,221
Hudler M see Kunz J et a/ yn 22q11.2: clinical data and deletion size: /etter, 721
Hughes-Benzie RM see Xuan JY et a/ Keulemans JLM see Voznyi YV et a
Huie ML see Hirschhorn R and Huie ML KezisJ see Celebi JT et a
Hunter L see Tischkowitz M et al Khdir A see Al-Gazali LI et a
Huntsman DG see Caldas C et al Khogali SS see Mayosi BM
Huson SM < see Faravelli F er al Khokhar MT see Breen CJ
HutsonJ see Amor D et al Killoran C Slavotinek A
Kim YS see Swallow DM
laccarino E see de Brasi D et al Kingston H see McGaughran
Iggo R see Yuan ZQ et al see Slavotinek A et a
Illarioshkin SN see Ivanova-Smolenskaya IA et al Kinoshita E-I see Muroya K et a
Imamura A see Shimozawa N et al Kirsch S see Sargent CA et al
Inglehearn CF ez al. A new family linked to the RP] dominant Kitoh H ez ai. Different genotype of periosteal and endosteal cells of
retinitis pigmentosa locus on chromosome 8a: letter, 646 a patient with polyostotic fibrous dysplasia: /etter, 724
Intravaia E see Barone V et al Kleijer WJ see Bunge S et al
Iolascon A see Bobba A et al see Voznyi YV et al
Isnard R see Richard P er al Klessinger S see Kraus C et al
Ivanova-Smolenskaya IA ez a/. 174The His1069GIin mutation in Klijn JGM see Lodder LN
the ATP7B gene in Russian patients with Wilson disease: /etter, Klockgether T see Did
174 Knigge A see Bunge S et a
Izumi Y see Matsuyama Z et al Knight LA see Gibbons B et a
Knight §S see Slavotinek A et al
Jackson CE see Caldas C et al Knight SW see Heiss NS et al
Jacobs P see MacphersonJ et al Kocak N see Loudianos G et al
Jacobs PA see Robinson DO et al Kok K ez a/. Breakpoint mapping by FISH in a Sotos patient with a
Jacquot S see Manouvrier-Hanu § et al constitutional translocation t(3;6): letter, 346
Jamieson CR see Brady AF et al Kolodner R see Froggatt NJ et al
Jan H see Reardon W et al Kolodner RD see Verma L et al
Jankowski JA see Caldas C et al Komajda M see Richard P et al
Janssen HCJP ez al. Two sibs with microcephaly, hygroma colli, KondoI see Mizushima K et a/
renal dysplasia, and cutaneous syndactyly: a new lethal MCA Kondo N see Shimozawa N et a
syndrome?, 481 Kondoh T see Miyoshi O
JaruzelskaJ see Kusz K et al Konttinen Y see Beltran-Valero de Bernabé D et al
Jarvinen O et al. Carrier testing of children for two X linked diseases Kopp S see Pertl B et al
in a family based setting: a retrospective long term psychosocial Korenberg J see Botta A et al
evaluation, 615 Kotecki M see Kusz K et al
Jeanpierre M see Dupont J-M ez al Kozak L ez al. Presence of a deletion in the 5' upstream region of the
Jeffery S see Brady AF er al GALT gene in Duarte (D2) alleles: /etter, 576
Jeffery S ez al. A dominant relationship between the ACE D allele Kraus C ez a/. A proven de novo germline mutation in HNPCC, 919
and serum ACE levels in a Ghanaian population: /etter, 869 Krawezak M< see Kehoe P et al
Jenkins H see Bevan S er al Kremer H see Hamel BC] et al
Jenkins T see Padoa C er al Krijt J see Kozak L et al
Jewell D see Bevan S et al Krohn K see Beltran-Valero de Bernabé D ert al
Jha GK see Fagerheim T er al Kroisel PM see Pertl B et al
Johannesson T see Wahlstrém J et al Kucinskas V see Utkus A et al
JohansenJ see Al-Gazali LI er al KuehrJ see Deichmann KA et a/
Johnson JM< see Farrell SA er al Kuhnau W see El-Harith E-HA er a/
Johnston §S see Bevan S et al Kumanov P see Tzancheva M et al
Jonas PP see Frizzley JK et al Kumar P see Bevan S et al
Jones AL see Kehoe P et al Kumaramanickavel G see Gu S-M et al
Jones I see Craddock N and Jones I Kunst H see van Camp G et al
Journeau P see Amiel J et al KunzJ et a/. Identification of a frameshift mutation in the gene
Joyce JA see Lam WWK et al TWISTi n a family affected with Robinow-Sorauf syndrome:
Junger TH see Steinberger D et al letter, 650
Kunze J see Superti-Furga A et al
Kabakkaya Y see Coucke PJ er al Kurahashi H see Kerstjens-Frederikse WS et al
KachanerJ see Bonnet D et al Kusz K ez a/. Incomplete masculinisation of XX subjects carrying the
Kadasi L see Plasilova M et al SRY gene on an inactive X chromosome, 452
Kaaridinen H see Jarvinen O et al Kuyt B see Zguricas J et al
Kameyama M< see Matsuyama Z et ai Kyt6la S see Teh BT et al
Kamimaki T see Muroya K et ai Kyvik KO see Ulrich V er a/
Kanariou M see Dacou-Voutetakis C er al
Kane MF see Verma L et al Laan LAEM< ez ai. Angelman syndrome: AS phenotype correlated
Kaneva R see Tzancheva M et al with specific EEG pattern may result in a high detection rate of
KaplanJ see Rozet J-M et al mutations in the UBE3A gene: letter, 723
Karabanov AV see Ivanova-Smolenskaya IA er al Labarriere F see Manouvrier-Hanu §S et al
Author index
Lacombe D see David A et al Lynch HT, de la Chapelle A. Genetic susceptibility to
see Villard L et al non-polyposis colorectal cancer: review, 801
Ladusans EJ see Mo CN and Ladusans EJ Lynch M< see Ruiz A et al
Lajeunie E er al. Sex related expressivity of the phenotype in coronal Lynch SA see Douglas FS et ai
craniosynostosis caused by the recurrent P250R FGFR3 Lyonnet §S see Amiel J et a/
mutation, 9 see Bonnet D et al
Lako M et al. Mutation screening in British 21-hydroxylase see Faivre L et a
deficiency families and development of novel microsatellite based see Myers SM et al
approaches to prenatal diagnosis, 119
Maaswinkel-Mooij PD see Helderman-van den Enden ATJMH er a!
Lam S see Gibbons B et al Maat-Kievit JA see Helderman-van den Enden ATJMH er al
Lam WWK et ai. Analysis of germline CDKNIC (p57*""”)
McCrindle BW see Kennedy SJ et a
mutations in familial and sporadic Beckwith-Wiedemann
McDermid HE see Frizzley JK et al
syndrome (BWS) provides a novel genotype-phenotype
Macdonald F see Wallis YL et a
correlation, 518 McGaughraJnM < er ai. A clinical study of type 1 neurofibromatosis
Lamantea E see Tiranti V er a/
in north west England, 197
Lamb AN see Frizzley JK et al
McGill J see Callen DF er al
Lambert J-C see David A et al
McGuirt W see van Camp G et al
Lammer EJ see Shaw GM et a/
McHaleJC see Inglehearn CF et a
Larsson C see Teh BT et al
MacKenzie AE see Xuan JY et a/
Lasko D see Yuan ZQ et al
McKeown C see Wang Z-J et al
Latos-Bielenska A see Kusz K et al
McKeown CM < see Wallis YI
Lazaro C see Ruiz A et al
MackuJ see Kozak L et a
Leal GF, Da-Silva EO. Limb-girdle muscular dystrophy with
MacLeod P see Caldas C et al
apparently different clinical courses within sexes in a large inbred
MacLeod R see McGaughran JM et al
kindred: /etter, 714
MacMillan JC er a/. Mendelian segregation of normal CAG
Le Bodic L see Férec C et al
trinucleotide repeat alleles at three autosomal loci, 258
Lebwohl MG see Celebi JT et al
MacphersonJ et a/. Fragile X syndrome: of POF and premutations:
Leclerc D see Shaw GM et al
letter, 171
Lee JCW see Swallow DM et al
Maher ER see Caldas C et a
Lee K-J see Kennedy SJ et al
see Froggatt NJ et al
Leegte B see Hordijk R et al
see Lam WWK et al
Lees MM er ai. Popliteal pterygium syndrome: a clinical study of
see Verma L et al
three families and report of linkage to the Van der Woude
Maher ER. The future 7MG: www.jmedgenet.com: editorial, 729
syndrome locus on 1q32, 888
Maiter D see Kartheuser A et a/
Lehesjoki A-E see Jarvinen O et al
Maki H see Odawara M et al
Leifheit H-J see Schuffenhauer S et a/
Makitie AA see Chen RW et a/
Leivo I see Chen RW et al
Malcolm § see Lees MM et al
le Marec B see Odent S et al
Malerba G see Trabetti E et a/
Le Merrer M< see Faivre L er al
Mallya H see Hoveyda N et al
see Lajeunie E et al MalvehyJ see Ruiz A er ai
Lemmers RJLF see van der Maarel SM et al Mailzac P see Moncla A et al
Lennard-Jones JE see Swallow DM et al Mancini GMS see Voznyi YV et a
Lenoir G see Shugart YY et al Mancini J see Moncla A et al
Leonardi E see Murgia A et al Manganaro F see Yuan ZQ et a/
Lesperance MM < see van Camp G et al MangionJ see Shugart YY et a/
LespinasseJ see Villard L er al Mani K see Fagerheim T et a/
le Tessier D see Dupont J-M et al Maniatis-Christidis M see Dacou-Voutetakis C et a/
Levy N see Sargent CA et al Manouvrier-Hanu § e: a/. Unreported RSK2 missense mutation in
Lewis CM see Hodgson SV er al two male sibs with an unusually mild form of Coffin-Lowry
Lewis FR see Caldas C et al syndrome, 775
Lewis RA see Heiss NS et a/ Marazzi M see Loudianos G et al
Lezin A see Didierjean O et al Marcellini M see Loudianos G et ai
Li FP see van Orsouw NJ et a/ Marfany G see Valero R et al
Li P et al. Molecular basis of iduronate-2-sulphatase gene mutations Margarit E see Soler A et al
in patients with mucopolysaccharidosis type II (Hunter Margolis RL ez a/. Unstable expansion of the CAG trinucleotide
syndrome), 21 repeat in MAB21LI1: report of a second pedigree and effect on
Lichtner P see Schuffenhauer S er al protein expression, 62
LilingJ et al. Frequency and predictive value of 22q11 deletion: /etter, Mari A see Botta A et al
94 Maria BL see Boltshauser EJ et al
Linblad K see Teh BT et al Mariman ECM < see Hamel BC] et ai
Lindhout D see van Slegtenhorst M et al Marino B see Digilio MC er al
Lindléf M see Jarvinen O et al Marion RW see Shanske AL et al
Livet M-O see Moncla A et al Markova ED see Ivanova-Smolenskaya IA er
Lloyd IC see Doward W et al Marks K see Brady AF et al
Lo AWI see Slater HR et al Marossy AM < see Bevan S et a
Lodder LN ez a/. Presymptomatic testing for BRCA1 and BRCA?2: Maroteaux P see Moog U et a
how distressing are the pre-test weeks?, 906 see Odent S et al
Logan RFA see Bevan S et al Marra E see Bobba A et al
Loget P see Odent S et al Marres H see van Camp G et al
Lohmann D see Zeschnigk M er al Marsh M see Bevan S et a/
Lopez-Alonso M see Borrego S et al Martella M see Murgia A et al
Loépez-Pajares I see Valero R er al Martinez F see Garcia-Planells J et a
see Wirth J et al Martin NG see MacMillan JC et al
Lorenz B see Gehrig A et al Martin NJ see Callen DF et al
Losekoot M see Helderman-van den Enden ATJMH er a/ Martin RA ez a/. Maternal uniparental disomy of chromosome 14
Lossi A-M< see Villard L et al confined to an interstitial segment (14q23-14q24.2), 633
see Villard L et al Martinati LC see Trabetti E et a/
Loudianos G et a/. Mutation analysis in patients of Mediterranean Martincova O see Kozak L et al
descent with Wilson disease: identification of 19 novel mutations, Martinsson T see Wahlstrém J er a/
833 Marzella R see Tiranti V er al
Loukola A et a/. Strategies for screening for hereditary non-polyposis Marzuki S see Pramoonjago P er al
colorectal cancer, 819 Massa O see Barone V et al
Love AHG see Bevan S et al Mathew CG see Hodgson SV et al
Lovicu M see Loudianos G et al Mathieu B see Richard P er a/
Lubs HA see Fagerheim T et al Matintalo P see Beltran-Valero de Bernabé D et al
Ludwig D see Bartsch O et al Matsumoto T see Miyoshi O er al
Lukinmaa P-L see Arvio P et al Matsuo N see Muroya K er al
Lunt PW see Inglehearn CF et al Matsuyama Z et al. The effect of CAT trinucleotide interruptions on
Luopajarvi K see Beltran-Valero de Bernabé D et al the age at onset of spinocerebellar ataxia type 1 (SCA1), 546
Lynch H see Shugart YY et a/ Mattei J-F see Moncla A et al
Lynch HT see Caldas C er al Matthijs G see Devriendt K er al
Author index 951
Maw MaA see Wilcox SA et al Murray A Microdeletions in FMR2 may be a significant cause
Mayosi BM ez al. Cardiac and skeletal actin gene mutations are not a of premature ovarian failure, 767
common cause of dilated cardiomyopathy: /etter, 796 Murtaza L see Brady AF et a
Meera Khan P see Kartheuser A er a/ Murthy DSK see Tayel SM
Mégarbané A er al. Microcephaly, microphthalmia, congenital Mussat P Amiel J et al
cataract, optic atrophy, short stature, hypotonia, severe Myers SM ez Investigation of germline GFRa-1 mutations in
psychomotor retardation, and cerebral malformations: a second Hirschsprung disease, 217
family with micro syndrome or a new syndrome?, 637
Meijers C see Brooks AS et al Naguib KK Tayel SM et a
Meijers H see Shugart YY et al Nakamura § see Matsuyama Z et a
Meijers-Heijboer EJ see Lodder LN er al Narain Y \ molecular investigation of true dominance in
Meijers JHC see Kerstjens-Frederikse WS et al Huntington’s disease, 739
Menzel C see Wirth J et al Narcy F Faivre I
Mercier B see Feérec C et al Narod SA van Orsouw NJ
Merienne K see Manouvrier-Hanu §S e1 al Nash T see Amor D et a
MerrenJ see Fagerheim T et al Nasserallah Z see El-Harith E-HA er
Mezzina M see Mégarbané A et a/ Navarro E Sanchez B et a
Michalec MD see Hart TC et al Nellist M see van Slegtenhorst M et al
Michaelis RC see Powell CM and Michaelis RC Nelson DL see Heiss NS et al
Miedzybrodzka Z see Moore SJ et a Neri G see Genuardi M et a
Mingarelli R see Stuppia L er a/ Neugebauer M see Thomson APJ ez al
Mirza G see Davies AF et al Neumann L see Superti-Furga A et al
Mirza M see Swallow DM et al Neyns B see Goelen G
Mitchell M see Sargent CA et a/ Ng CF see Gibbons B ez a
Miyoshi O er al. 47,XX,UPD(7)mat,+r(7)pat/46,XX, UPD(7)mat Ng I see Gibbons B et a
mosaicism in a girl with Silver-Russell syndrome (SRS): possible Nickerson E see Wu Y-Q
exclusion of the putative SRS gene from a 7p13-q11 region, 326 Nicol D see Teh BT et a
Mizushima K er al. Analysis of spinocerebellar ataxia type 2 gene Nicolaidou P see Dacou-Voutetakis C et a/
and haplotype analysis: (CCG),_ , polymorphism and Nie G see Kerstjens-Frederikse WS et al
contribution to founder effect, 112 Niermeijer MF see de Vries BBA et al
Mo CN, Ladusans EJ. Anomalous right pulmonary artery origins in see Lodder LN et al
association with the fetal valproate syndrome, 83 see Macpherson J et a
Moerman A see Manouvrier-Hanu § ez al Niikawa N see Miyoshi O ez
Moerman P see Janssen HCJP et al Nivelon A see David A et
Moffitt DR see Frizzley JK et al Nizard S see Portnoi M-F ez a
Mohkamsing §S see de Vries BBA et a/ Nogami H see Kitoh H et a
Mol E see de Vries BBA et al Nord B see Teh BT eta l
Molloy MG see Waldron-Lynch F et al Nork M Al-Gazali LI et al
Moncla A er al. Angelman syndrome resulting from UBE3A Nothwang H-G see Wirth J et ai
mutations in 14 patients from eight families: clinical Nouchy M< see Portnoi M-F et a
manifestations and genetic counselling, 554 Nouri S see Slater HR et ai
Monno F see Bobba A et al Novelli A see Botta A et a
Moog U et al. Two sibs with an unusual pattern of skeletal Novelli G see Botta A et a/
malformations resembling osteogenesis imperfecta: a new type of
skeletal dysplasia?, 856 O’Dair LC see Douglas FS et a
Moore GE see Abu-Amero SN et a/ Odawara M< et a/. Pathogenicity of homoplasmic mitochondrial
see Preece MA et al DNA mutation and nuclear gene involvement: letter, 934
Moore SJ ez ai. Fragile X syndrome with FMRI and FMR2 deletion, Odent S et a/. Unusual fan shaped ossification in a female fetus with
565 radiological features of boomerang dysplasia, 330
Moore T see Payne AM et al O’Donoghue D see Bevan S et al
Moraine C see Villard L et al O’Gara F see Waldron-Lynch F et al
Morales-Peralta E see Zguricas J et al Ogata T see Muroya K et a
Morizio E see Stuppia L et al Ohishi S Lam WWkK ez
Merk C see Stromme P et al Okamoto K see Mizushima K
Morlier G see Portnoi M-F et al Olafsdottir G see Tulinius H
Morton DG see Wallis YL et al OlesenJ see Ulrich V et a
Morton N see Murray A et al Oliveira C see Caldas C et al
Mosquera A et a/. Simultaneous decrease of telomere length and Oostra BA see de Vries BBA et al
telomerase activity with ageing of human amniotic fluid cells: see den Enden ATJMH et ail
letter, 494 see Macpherson J et al
Mosse K see Robinson DO ez a/ see Zguricas J et al
Mosselaar A see Kok K et al Orii T see Shimozawa N et al
Muilenburg A see Wu Y-Q et al Orstavik KH e a/. Skewed X chromosome inactivation in a female
Mukai T see Lam WWK et al with haemophilia B and in her non-carrier daughter: a genetic
Mulder CJJ see Bevan S et al influence on X chromosome inactivation?: letter, 865
Muller H see Dobbie Z and Miller H Orstavik RE see Orstavik KH et al
Muller U see Steinberger D et al Orzan E see Murgia A et al
Mulligan LM see Myers SM et al Osborn AH see Wilcox SA et al
Mumcu EF see Zguricas J et al Osborn M< see Faravelli F et a/
Munar-Queés M< er al. Two pairs of proven monozygotic twins Osborne LR see Botta A et ai
discordant for familial amyloid neuropathy (FAP) TTR Met 30, Osinga J see Brooks AS et al
629 Osumi T see Shimozawa N et a/
Mundlos S. Cleidocranial dysplasia: clinical and molecular genetics: Otsuka K see Miyoshi O et al
review, 177 Oude Luttikhuis MEM < see Bijlsma EK et a/
Mungall AJ see Gardner RJ er al Ovchinnikov IV see Ivanova-Smolenskaya IA et al
Munnich A see Amiel J et al Owen MJ see Kehoe P et al
see Bonnet D et al
Padberg GW see van der Maarel SM et al
see Faivre L et al
Padoa C et ai. Cystic fibrosis carrier frequencies in populations of
see Férec C er al African origin, 41
see Heiss NS et al Palau F see Garcia-Planells J et al
see Lajeunie E et al Palka G see Stuppia L et al
see Rozet J-M et al Pallos D see Shashi V et al
see Villard L et al Papapetrou C et ail. A genetic study of the human T gene and its
Murgia A et al. Cx26 deafness: mutation analysis and clinical exclusion as a major candidate gene for sacral agenesis with
variability, 829 anorectal atresia, 208 a
Murken J see Schuffenhauer S et al Papp T ez al. Mutational analysis of the N-ras, p53, p16’“***, CDK4,
Muro §S et al. Feasibility of DNA based methods for prenatal and MCR genes in human congenital melanocytic naevi, 610
diagnosis and carrier detection of propionic acidaemia, 412 Paringaux C see Villard L er al
Muroya K e al. Deletion mapping and X inactivation analysis of a Park KGM see Caldas C et a/
non-specific mental retardation gene at Xp21.3—Xp22.11, 187 Parker D see Beales PL et al
Murray A see Macpherson J et al Parker L see Liling J et al
Author index
Parker MJ et a/. Variations in genetic assessment and recurrence Rabineau D see Dupont J-M et a/
risks quoted for childhood deafness: a survey of clinical Rabionet R, Estivill X. Allele specific oligonucleotide analysis of the
geneticists, 125 common deafness mutation 35delG in the connexin 26 (GJB2)
Partridge J see Walker AP et al gene, 260
Passarge E see Kunz J et al Raeymaekers P see Fagerheim T et a
Patton MA see Brady AF et al see Fagerheim T et al
Patuzzo C see Trabetti E er a/ Ragoussis J see Davies AF et al
Payne AM et al. Genetic analysis of the guanylate cyclase activator Raguéneés O see Férec C et al
1B (GUCA1B) gene in patients with autosomal dominant retinal Ragusa A see Villard L et al
dystrophies, 691 Rahier J see Kartheuser A et ai
Peacocke M see Celebi JT et a/ Rahman N see Shugart YY et a/
Peart I see Sweeney E et al Ramiro-Diaz J see Mosquera A et a
Pécheux C see Diirr A et al Ramsay M< see Padoa C et a
Pedersen M see Fagerheim T er a/ see Romey M-C et al
Pedrosa JL see Munar-Qués M et al Ramsden § see Lako M ert al
Peelen T see Shugart YY et al Ranki A see Beltran-Valero de Bernabé D er
Pelet A see Myers SM et al RankinJ see Narain Y et ai
Pelser J see Christianson AL et al see Rubinsztein DC et a
Pemsel H see Papp T et a/ Rapley E see Teh BT ez al
Pena SDJ see Vercesi AML et al Rappold GA see Sargent CA et a
Pérez B see Muro S et al see Stuppia L et al
Pérez-Cerda C see Muro S er al Razavi F see Faivre L et al
Perone L see de Brasi D et al Reardon W see Coucke PJ et a
Perrault I see Rozet J-M et al see Papapetrou C et al
Pertl B ez al. Rapid detection of chromosome aneuploidies by Reardon W et ai. Prevalence, age of onset, and natural history of
quantitative fluorescence PCR: first application on 247 chorionic thyroid disease in Pendred syndrome, 595
villus samples, 300 Rebbeck TR see Carroll BT er al
Perveen R see Doward W er al Redston M see Yuan ZQ er al
PeSkovova K see Kozak L er al Reid E ez al. Subclinical cognitive impairment in autosomal
Peters H see Schuffenhauer S er a/ dominant “pure” hereditary spastic paraplegia: /etter, 797
Petersen MB see Dacou-Voutetakis C er al Reik W see Lam WWK et al
Peterson P see Beltran-Valero de Bernabé D er al Renard H see Shugart YY et a/
Petrovic V see Delatycki MB er al Renier D see Lajeunie E et al
Pettenati MJ see Shashi V er a/ Renier WO see Hamel BC] et al
Pharoah PDP see Caldas C et a/ Resende C see Saraiva JM et al
Philip N see Moncla A et al Ribes A see Muro S et al
see Villard L et al Richard P ez a/. Double heterozygosity for mutations in the B-myosin
Pignatti. PF see Trabetti E et a/ heavy chain and in the cardiac myosin binding protein C genes in
a family with hypertrophic cardiomyopathy, 542
Pijackova A see Kozak L et al
Richards FM see Caldas C et ai
Pincus DR see Villard L er al
Ridgway AEA see Doward W et al
Ping XL see Celebi JT er al
Riebel T see Superti-Furga A et a/
Pinsky L see Yuan ZQ et al
Rinaldi R see Fitzgerald KM er al
Pinto L see de Brasi D et al
Robertson A see Delatycki MB et al
Pinton F see Dupont J-M er al
Robertson SP, Bankier A. Sotos syndrome and cutis laxa, 51
Pirastu M see Loudianos G et al Robinson DO see Gardner RJ er al
Pirinen §S see Arvio P et al Robinson DO ¢7 a/. A molecular and FISH analysis of structurally
PlaSilova M< et al. Identification of a single ancestral CYP1B1 abnormal Y chromosomes in patients with Turner syndrome,
mutation in Slovak Gypsies (Roms) affected with primary 279
congenital glaucoma, 290 Robinson M see Douglas FS et al
Plange-RhuleJ see Jeffery S er al Robledo M< see Sanchez B et al
Plant C see Payne AM et al Rocchi M see Tiranti V et al
Poleshchuk VV see Ivanova-Smolenskaya IA et al Roche C see Férec C et al
Polli R see Murgia A et al Rodriguez-Pombo P see Muro § et
Poll-The BT see Boltshauser EJ er a/ Roers A see Walter K er al
Pomponi MG see Genuardi M et al Rogan PK see Martin RA et al
Ponder BAJ see Caldas C er al Rogers MT see Reid E et al
Ponsot G see Dupont J-M et al Romanengo M< see Di Rocco M et al
Popat S see Bevan S et al Romano C see Villard L et al
Portnoi M-F et al. Skin pigmentary anomalies and mosaicism for an Romey M-C et ai. First putative sequence alterations in the minimal
acentric marker chromosome originating from 3q, 246 CFTR promoter region: /etter, 263
Potter NT see Margolis RL et al Ropers H-H see Hamel! BC] er a/
Potts J see Tischkowitz M et al see Wirth J et al
Poustka A see Heiss NS er al Rosenberg M< see Slavotinek A et al
Powell CM, Michaelis RC. Townes-Brocks syndrome: review, 89 Rosenblatt A see Margolis RL er a/
Powell SM see Caldas C et al Ross CA see Margolis RL er a/
Power M< see Breen CJ et al Roth S see Chen RW et al
Power MM< see Robinson DO er al Réthlisberger B see Utkus A er al
Pramoonjago P ez a/. Rapid screening for the most common RotterJ I see Swallow DM et al
thalassaemia mutations in south east Asia by PCR based Roviello F see Caldas C et al
restriction fragment length polymorphism analysis (PCR-RFLP): Rozen R see Shaw GM et al
letter, 937 Rozet J-M< er al. Mutations of the retinal specific ATP binding
Preece MA see Price SM et al transporter gene (ABCR) in a single family segregating both
Preece MA et al. An analysis of the distribution of hetero- and autosomal recessive retinitis pigmentosa RP19 and Stargardt
isodisomic regions of chromosome 7 in five mUPD7 disease: evidence of clinical heterogeneity at this locus, 447
Silver-Russell syndrome probands, 457 Rubinsztein DC see Narain Y er al
Price SM< ez al. The spectrum of Silver-Russell syndrome: a clinical see Reid E et al
and molecular genetic study and new diagnostic criteria, 837 Rubinsztein DC ez ai. Intraceliular inclusions, pathological markers
Prieto F see Garcia-Planells J et al in diseases caused by expanded polyglutamine tracts?: review, 265
see Valero R et al Rubinsztein JS see Reid E et al
PringotJ see Kartheuser A er al Ruiz A see Borrego S et al
Pruss D see Scholl T er al see Sanchez B et al
Puig L see Ruiz A et al Ruiz A et al. CDOKN2A mutations in Spanish cutaneous malignant
Puig S see Ruiz A et al melanoma families and patients with multiple melanomas and
PunnoseJ see Al-Gazali LI et al other neoplasia, 490
Pyne MT see Scholl T er al Rul.lan G see Valero R et al
Russell B see Shanske AL er al
Russell MB see Ulrich V er al
Queralt R see Soler A et al Ruszczynska-Wolska A see Kusz K et al
Quéré I see Férec C et al Ryan K see Breen CJ et al
Author index
Saal HM see Lees MM et al Sidi D see Bonnet D et al
Sabani M see Botta A er al Siegel-Bartelt J see Kerstjens-Frederikse WS er al
Sabnis SG see Amirlak I et al Sigvaldason H see Tulinius H er a/
Sabol DW see Martin RA er al SingerJ see Farrell SA et a
Saez ME see Borrego S et al Sjoberg K see Bevan S eta
Saez M-E see Sanchez B er al Skawran B see Dork 1
Saggar Malik AK see Jeffery S er al Skirton H see Inglehearn CF er al
Sahlén S see Blennow E and Sahlén S Skuse DH see Robinson DO er al
Salomon R see Feérec C er al Slater HR see Delatycki MB et a/
see Myers SM et al Slater HR Neocentromere formation in a stable ring
Sanchez B et al. High prevalence of the C634Y mutation in the RET IIpns 2-p36.1 chromosome9,1 4
proto-oncogene in MEN 2A families in Spain, 68 Slavotinek A et al. Monosomy 1p36: review, 657
Sanchez-Conejo J see Ruiz A et al Screening for submicroscopic chromosome rearrangements in chil-
Sandkuijl L see van der Maarel SM et ai dren with idiopathic mental retardation using microsatellite mark-
Saraiva JM ez al. Schimke immuno-osseous dysplasia: case report ers for the chromosome telomeres, 405
and review of 25 patients, 786 Sluijter S Bijlsma EK
Sarfarazi M see Plasilova M et al Smahi A see Heiss NS er a
Sargent CA et al. The critical region of overlap defining the AZFa Smith ACM Allanson JE er
male infertility interval of proximal Yq contains three transcribed Smith PJ see Algar EM
sequences, 670
Smith RJH see ¢ oucke PJ er
Sarret E see Valero R et al
Sarri C see Dacou-Voutetakis C er a/ see van Camp
Sartorelli MR see Loudianos G er al Smith S
Saut N see Sargent CA et al Smith TA
Savage MO see Brady AF et al mosaicisn a point mutation in a Duchenne muscular
Savarirayan R, Bankier A. Simpson-Golabi-Behmel syndrome and dystropl amily, 313
attention deficit hyperactivity disorder in two brothers: /etter, 574 Snead MP, Yates JRW. Clinical and molecular genetics of Stickler
Schaap C see Janssen HCJP et al syndrome: review, 353
Schaefer HE see Walter K et al Séderling I see Jarvinen O
Schalling M see Teh BT et al Soler A et a/. Trisomy/tetrasomy 21 mosaicism in CVS:
Scheffer H see Hordijk R er a/ interpretation of cytogenetic discrepancies between placental and
Scheidl T see Kerstjens-Frederikse WS er a/ fetal chromosome complements, 333
Schiffmann D see Papp T er al Solomon E Hodgson SV et a
Schinzel A see Guttenbach M er al Sorokina I see Utkus A
see Utkus A et al Sorrentino V see Barone V et
Schlenther S see Deichmann KA er al Souied E see Rozet J-M et a
Schmeits J see Verma L et al Sparholt SH see Deichmann KA et al
Schmid M see Guttenbach M et al Spitz L see Papapetrou C et al
Schmidt R see Shanske AL er al Spranger J see Superti-Furga A et al
Schmidtke J see El-Harith E-HA et al Springbett S see Suthers G et a
Schoenmakers E see Devriendt K et a/ Srikumari CR see Gu S-M et al
Schofield PN see Lam WWK er al Stagni ML see Genuardi M et «
Scholl T ez a/. Biochemical and genetic characterisation shows that Stallings RL 3reen CJ et al
the BRCA1 IVS20 insertion is a polymorphism: /etter, 571 Stanhope R see Price SM et al
Schrander JJP see Moog U et al Stanier P see Abu-Amero SN
Schrander-Stumpel CTRM see Kok K et al see Preece MA et al
see Moog U et al Starke B see Deichmann KA et a/
Schuffenhauer § er a/. De novo deletion (14)(q11.2q13) including Stastna §S see Kozak L et a
PAX9: clinical and molecular findings, 233 Steglich C see Bunge S et a
Schwartz C see Villard L er al Steinberger D ez ai. Mutation of FGFR2 (cys278phe) in
Schwartz CE see Christianson AL er al craniolacunia and pansynostosis: /etter, 499
Schwartz K see Richard P er al Steinlein C see Guttenbach M et al
Schwartz M see Orstavik KH ez al Steinmann B see Superti-Furga A er al
Schwinger E see Bartsch O et al Stenhammer L see Bevan S et al
Seal S see Shugart YY ez al Stephan MJ see Frizzley JK et ai
Searle S, Blackwell JM. Evidence for a functional repeat Stevanin G see Didierjean O et al
polymorphism in the promoter of the human NRAMP!1 gene Stevenson RE see Christianson AL et ai
that correlates with autoimmune versus infectious disease Stine OC see Margolis RL et a/
susceptibility, 295 Stoilov I see Plasilova M et al
Seaver L see Villard L er al Stolte-Dijkstra I see Hordijk R et al
Sebastio G see de Brasi D et al Stone EM< see El-Shanti H et a/
Sequeiros J see Munar-Qués M er al Stoppa-Lyonnet D see Shugart YY et al
Sertedaki A see Dacou-Voutetakis C er a/ Strachan T see Lako M et al
Seruca R see Caldas C et al Strain L see Moore SJ et al
see Munar-Ques M et al
Stratton M see Shugart YY et ai
Setianingsih I see Pramoonjago P er a/
Shaffer LG see Slavotinek A et al see Teh BT et al
see Wu Y-Q et al Stromme P ez ai. X linked mental retardation and infantile spasms
Shanahan F see Waldron-Lynch F et a/ in a family: new clinical data and linkage to Xp11.4-Xp22.11,
Shankar A ez ai. Genetic counselling: do we recognise and meet the 374
consultands’ agenda?: letter, 580 Stuhrmann M<« see Dérk T et ai
Shanske AL et a/. Simultaneous occurrence of two supernumerary see El-Harith E-HA et a/
autosomal ring chromosomes r(1) and r(16) in twins, 625 Stuppia L et a/. Loss of the SHOX gene associated with Leri-Weill
Shapira SK see Slavotinek A et al dyschondrosteosis in a 45,X male, 711
Shashi V ez a/. Genetic heterogeneity of gingival fibromatosis on Sturniolo GC see Loudianos G er al
chromosome 2p, 683 Summers AM < see Farrell SA et al
Shather W see Al-Gazali LI er al Sundet K see Stromme P et a/
Shaw GM < ez a/. Infant methionine synthase variants and risk for Super M see McGaughran JM et al
spina bifida: /etter, 86 Superti-Furga A ez a/. Recessively inherited multiple epiphyseal
Sheffield VC see El-Shanti H er al dysplasia with normal stature, club foot, and double layered
Sherr M see Margolis RL er al patella caused by a DTDST mutation, 621
Shield JPH see Gardner RJ et al Susman M see Amor D et al
see Hoveyda N et al Suthers G er a/. Skewed sex ratios in familial holoprosencephaly and
Shimozawa N ez al. Defective PEX gene products correlate with the in people with isolated single maxillary central incisor, 924
protein import, biochemical abnormalities, and phenotypic Suzuki Y see Shimozawa N et al
heterogeneity in peroxisome biogenesis disorders, 779 Swallow DM < ez ai. Ulcerative colitis is not associated with differences
Shizuka M see Mizushima K er a/ in MUC2 mucin allele length: /etter, 859
Shkolny DL see Frizzley JK et al Sweeney E ez a/. Smith-Magenis syndrome and tetralogy of Fallot:
Shoji M see Mizushima K et al letter, 501
Shugart YY ez a/. Linkage analysis of 56 multiplex families excludes Szarras-Czapnik M see Kusz K et al
the Cowden disease gene PTEN as a major contributor to Sztriha L see Al-Gazali LI er al
familial breast cancer: /etter, 720 see Al-Gazali LI et al
Author index
Taillemite J-L see Portnoi M-F er al see van Slegtenhorst M et al
Tan SY see Gibbons B er al van den Ouweland AMW see de Vries BBA er a/
Taneda H see Miyoshi O er al see Laan LAEM et al
Taucher SC see Austin-Ward ED and Taucher SC van der Maarel S see Wirth J et a
Taufani RA see Pramoonjago P et al van der Maarel SM< ez a/. A new dosage test for subtelomeric 4;10
Tawn EJ see Liling J et al translocations improves conventional diagnosis of
Tayel SM er al. Familial pericentric inversion of chromosome | facioscapulohumeral muscular dystrophy (FSHD), 823
(p36.3q23) and Bardet-Biedl syndrome: /erter, 418 van der Meer CA see Lodder LN et ai
Teare D see McGaughran JM et al van der Meyden CH see Christianson Al
see Shugart YY et al van der Veen AY see Kok K et a
Teebi AS see Kennedy SJ ez a/ van der Wielen MJR see van der Maarel SM er
Tegazzin V see Barone V et al Vandevijver N see Janssen HCJP er a
Teh BT et al. Familial testicular cancer: lack of evidence for van Diggelen OP see Bunge S et a
trinucleotide repeat expansions and association with PKD1 in see Voznyi YV et al
one family: /etter, 348 van Essen AJ see Kerstjens-Frederikse WS
Tempelaars A see van Slegtenhorst M er al van Hauwe P see Coucke PJ et a
Temple IK see Derry C et al van Ooij A see Moog U et a
see Gardner RJ et al van Orsouw NJ et a/. A highly accurate, k ww cost test for BRCA1
Terriou P see Sargent CA er al mutations, 747
Teshima I see Kerstjens-Frederikse WS et al van Rensburg PL see Christianson Al
Teugels E see Goelen G et al van Rijn M see de Vries BBA et ai
Theron FW see Christianson AL et al van Royen-KerkhofA see Boltshauser EJ et a
Thompson JN see Li P et a/ van Slegtenhorst M< ez a/. Mutational spectrum of the TSC1 gene in
Thompson MH see Hoveyda N et al a cohort of 225 tuberous sclerosis complex patients: no evidence
Thomson APJ et a/. Autosomal dominant optic atrophy with for genotype-phenotype correlation, 285
unilateral facial palsy: a new hereditary condition?, 251 Varady E see Al-Gazali LI et al
Tibben A see de Vries BBA et al Vasseur C see Dupont J-M er a
see de Vries BBA et al vd Smagt JJV see Brooks AS er a
see Lodder LN et al Vekemans M< see Faivre L et a
Tiranti V er a/. Leigh syndrome transmitted by uniparental disomy of Veleba A see Callen DF et al
chromosome 9: letter, 927 Venkat-Raman K see Derry C et al
Tischkowitz M et a/. Amelogenesis imperfecta, sensorineural hearing Vercesi AML ez a/. Prevalence of Prader-Willi and Angelman
loss, and Beau’s lines: a second case report of Heimler’s syndromes among mentally retarded boys in Brazil: /etter, 498
syndrome: /etter, 941 Verellen-Dumoulin C see Kartheuser A e7 a
Todoroff K see Shaw GM et al VerhoefS see Tischkowitz M et al
Tofeig M see Sweeney E et al see van Slegtenhorst M et a
Tomlinson IPM see Wang Z-J et al Verloes A see David A et al
Tommerup N see Wirth J et al Verma L ez ail. Mononucleotide microsatellite instability and
Tonnby B see Wahlstrém J er al germline MSH6 mutation analysis in early onset colorectal
Tonnessen FE see Fagerheim T et a/ cancer, 678
Torrisi L see Genuardi M et a/ Verstreken M see van Camp G et
Tozzi C see Genuardi M et al VigneronJ see David A et al
Trabetti E ez al. Association of a lymphotoxin « gene polymorphism Vijg J see van Orsouw NJ et a
and atopy in Italian families, 323 Vilchez JJ see Garcia-Planells J et al
Tranebjerg L see Fagerheim T et a/ Villard L et a/. Evaluation of a mutation screening strategy for
see Fagerheim T et al sporadic cases of ATR-X syndrome, 183
Trembath R see Coucke PJ et a/ Two unrelated patients with inversions of the X chromosome and
see Reardon W et al non-specific mental retardation: physical and transcriptional
Trembath RC see Bijlsma EK er a/ mapping of their common breakpoint region in Xq13.1, 754
see Price SM et al Vinall LE see Swallow DM et al
Trifiro M see Yuan ZQ et al Vinanzi C see Murgia A et a/
Trijsburg RW see Lodder LN et a/ Voelckel M-A see Moncla A et a!
Trundley A see Sargent CA et al Vogelsang H see Caldas C et al
Tryggvadottir L see Tulinius H et al Voisey J see MacMillan JC et al
Tsou HC see Celebi JT et al Volpini V see Sanchez B et a
Tsukamoto T see Shimozawa N et al von Deimling A see Myers SM et a
Tulinius H et a/. Breast cancer incidence and familiality in Iceland von Kap-Herr C see Shashi V er a/
during 75 years from 1921 to 1995, 103 Voullaire L see Delatycki MB er al
Tului L see Pert! B et al Voznyi YV et a/. A new simple enzyme assay for pre- and postnatal
Turnbull DM see Chinnery PF et al diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and
see Chinnery PF et al its variants, 471
Tyler-Smith C see Tzancheva M et al Vujic M see Wahlstrém J er al
Tympner K-D see Bartsch O et al
Tzancheva M er al. Two male patients with ring Y: definition of an Wagner A see Lodder LN et a
interval in Yq contributing to Turner syndrome, 549 WahlstrémJ ez a/. Congenital variant Rett syndrome in a girl with
terminal deletion of chromosome 3p, 343
Ugarte M see Muro S et al Wakeling EL see Preece MA et al
Uller A see Wahlstrém J et al Waldron-Lynch F et a/. Genetic analysis of the 3' untranslated
Ulrich V er al. The inheritance of migraine with aura estimated by region of the tumour necrosis factor shows a highly conserved
means of structural equation modelling, 225 region in rheumatoid arthritis affected and unaffected subjects,
Upadhyaya M see Faravelli F ez al 214
Utkus A er al. Duplication of segment 1p21 following paternal Walker AP er al. Atypical haemochromatosis: phenotypic spectrum
insertional translocation, ins(6;1)(q25;p13.3p22.1), 73 and f,-microglobulin candidate gene analysis, 537
Uutela A see Jarvinen O ert al Walker SJ see Hart TC er al
Uziel G see Tiranti V et al Walker-Smith J see Bevan S er a/
Wallace DF see Walker AP et al
Vabres P see Heiss NS et al Wallis YL ez ai. Molecular analysis of the APC gene in 205 families:
Valenzano MC see Gentile M et al extended genotype-phenotype correlations in FAP and evidence
Valero R et a/. Molecular characterisation of partial chromosome 21 for the role of APC amino acid changes in colorectal cancer
aneuploidies by fluorescent PCR, 694 predisposition, 14
Vallée L see Manouvrier-Hanu S et al Walon C see Kartheuser A et al
van Camp G see Coucke PJ et al Walter K et al. Sequence analysis of the homogentisate 1,2
van Camp G er al. A gene for autosomal dominant hearing dioxygenase gene in a family affected by alkaptonuria: /etter, 645
impairment (DFNA14) maps to a region on chromosome Wanders RJA see Shimozawa N et al
4p 16.3 that does not overlap the DFNA6 locus, 532 Wang Q see van Slegtenhorst M et al
Vance GH see Cook L et al Wang Z-J et a/. Germline mutations of the LKB! STK11) gene in
van de Heyning PH see van Camp G er al Peutz-Jeghers patients, 365
van den Berg H, Hennekam RCM. Acute lymphoblastic leukaemia Ward B see Scholl T et al
in a patient with cardiofaciocutaneous syndrome: letter, 799 Ward CM see Margolis RL er al
van den Boer-van den Berg HMA see de Vries BBA et al Warenik-Szymankiewicz A see Kusz K er al
van den Helm B see Hamel BCJ er ai Warne G see Amor D et al
van den Ouweland A see Shugart YY et a/ Watanabe M< see Mizushima K er al