Human Genetics 1995: Vol 96 Table of Contents

9 Pages·1995·0.42 MB·English

III
Contents of Volume 96 • 1995
Arte S —> Nieminen P Benitez J —> Bayes M
Abbreviations in parenthesis refer to Asperen CJ van —> Bijlsma EK Benitez J, Robledo M, Ramos C,
the following sections: (R) Review ar¬ Assmann G Nofer J-R Ayuso C, Astarloa R, Garcia
ticle; (O) Original investigation; (SC) Assum G —> Stark M Yebenes J, Brambati B: Somatic
Short communication; (CC) Clinical Astarloa R —> Benitez J stability in chorionic villi samples
case report; (DV) DNA variants; (L) Aubert JP Pigny P and other Huntington fetal tissues (SC)
Letter to the editors Aubry M Demczuk S 229
Audrezet MP —> Ferec C Benlian P Pereira E
Augarten A —* Kerem E Benson MD —> Almeida MR
Aula P Laan M Ben-Tur L —> Kerem E
Aurias A —» Demczuk S Bereziat G —> Pereira E
Abd El-Aleem A, Bdhm I, Temtamy S, Awadalla M —> Abd El-Aleem A Bergametti F Kottler ML
El-Awady M, Awadalla M, Schmidtke Ayuso C —) Bayes M Bergerat JP Wajcman H
J, Stuhrmann M: Direct molecular Ayuso C —> Benitez J Bergthorsson JT, Eiriksdottir G,
analysis of the fragile X syndrome in Azofeifa J, Barrantes R, Cremer M: Lack Barkardottir RB, Egilsson V, Arason A,
a sample of Egyptian and German of a Bg/II site at the 5' region of the Ingvarsson S: Linkage analysis and
patients using non-radioactive PCR PGK 1 locus: a new variant discovered allelic imbalance in human breast cancer
and Southern blot followed by in two Chibchan Amerindian groups kindreds using microsatellite markers
chemiluminescent detection (O) 577 from Costa Rica (DV) 626 from the short arm of chromosome 3
Abeliovich D —» Kerem E Azofeifa J, Voit T, Hiibner C, Cremer M: (O) 437
Abrahamson M —> Ekstrom U X-chromosome methylation in mani¬ Berkaw M Bost M
Adam G Kanavakis E festing and healthy carriers of dys- Bermingham N, Hillermann R,
Adam M —> Dechert U trophinopathies; concordance of activa¬ Gilmour F, Martin JE, Fisher EMC:
Ades L Pyper W tion ratios among first degree female Human glial cell line-derived neuro¬
Affeldt M —> Huschenbett J relatives and skewed inactivation as trophic factor (GDNF) maps to
Akita H. Chiba H, Tsuji M, Hui S-P, cause of the affected phenotypes (O) chromosome 5 (O) 671
Takahashi Y, Matsuno K, Kobayashi K; 167 Bernard C Pereira E
Evaluation of G-to-A substitution in the Bemheim A Regnier V
apolipoprotein A-I gene promoter as a Backdahl M —> Zedenius J Bertrand V —» Pereira E
determinant of high-density lipoprotein Baer DM Calandro LM Bhatnagar YM Tuck-Muller CM
cholesterol level in subjects with and Baiget M Bayes M Bijlsma EK, Merel P, Fleury P, Asperen
without cholesteryl ester transfer protein Balcells S —> Bayes M CJ van, Westerveld A, Delattre O,
deficiency (O) 521 Ballhausen WG —> Sulekova Z Thomas G, Hulsebos TJM: Family
Akiyama M Hakoda M Barbaux S Tar A with neurofibromatosis typie 2 and
Alarcon JC —> Valenzuela CY Barbieri AM, Soriani N, Tubiello GM, autosomal dominant hearing loss:
Almeida E de —> Almeida S de Ferrari M, Carrera P: A nonsense identification of carriers of the mutated
Almeida MR, Aoyama-Oishi N, Sakaki Y, mutation (Gln-673-Term) in exon 17 NF2 gene (O) 1
Holmgren G, Ulf D, Ferlini A. Salvi F, of the human dystrophin gene detected Bili C —> Florentin L
Munar-Ques M, Benson MD, Skinner by heteroduplex analysis (SC) 343 Blau H —» Kerem E
M. Costa PP, Saraiva MJ; Haplotype Barkardottir RB —> Bergthorsson JT Blaikova M —> Koz^ L
analysis of common transthyretin Barrantes R —> Azofeifa J Blom HJ —> Kluijtmans LAJ
mutations (SC) 350 Barrientos A, Casademont J, Solans A, Blomback M —> Zhang Z
Almeida S de. Almeida E de, Peters D, Moral P, Cardellach F, Urbano-Marquez Boddrich A —> Robinson PN
Pinto JR, Tavora I, Lavinha J, Breuning A, Estivill X, Nunes V: The 9-bp dele¬ Bohm 1 Abd El-Aleem A
M, Prata MM: Autosomal dominant tion in region V of mitochondrial DNA: Boers GHJ Kluijtmans LAJ
polycystic kidney disease; evidence evidence of mutation recurrence (SC) Boerwinkle E —> Fomage M
for the existence of a third locus in a 225 Boespflug-Tanguy O —> Mimault C
Portuguese family (O) 83 Bartsch O —> Schuffenhauer S Bonaventure J, Chaminade F,
Amante A —> Lucarini N Bastien L —> Dechert U Maroteaux P: Mutations in three
Amati F —> Mari A Bati,sta DAS —> Tuck-Muller CM subdomains of the carboxy-terminal
Amati P, Chomel J-C, Nivelon-Chevalier Bayes M, Valverde D, Balcells S, region of collagen type X account for
A, Gilgenkrantz S, Kitzis A. Kaplan J, Grinberg D, Vilageliu L, Benitez J, most of the Schmid metaphyseal dys¬
Bonneau D; A gene for blepharo- Ayuso C, Beneyto M, Baiget M, plasias (O) 58
phimosis-ptosis-epicanthus inversus Gonzalez-Duarte R: Evidence against Bonneau D —> Amati P
syndrome maps to chromosome 3q23 involvement of recoverin in autosomal Boone P —» Broly F
(SC) 213 recessive retinitis pigmentosa in 42 Borchers O —> Jendemy J
Antoniadi T —> Kanavakis E Spanish families (O) 89 Bordoni R -4 Brancolini V
Anvret M —> Nordenskjold A Becker K-F, Reich U, Schott C, Hofler H: Borgiani P Bottini E
Anvret M —> Zhang Z Single nucleotide polymorphisms in the Borgiani P —> Lucarini N
Aoyama-Oishi N —> Almeida MR human E-cadherin gene (DV) 739 Bprglum AD. Flint T, Madsen P, Celis JE,
Arason A —> Bergthorsson JT Begy CR, Dierick HA, Innis JW, Glover Kruse TA; Refined mapping of the
Ariga T, Sakiyama Y, Matsumoto S: TW: Two highly polymorphic CA psoriasin gene S100A7 to chromosome
A 15-base pair (bp) palindromic inser¬ repeats in the Menkes gene (ATP7A) lcen-q21 (O) 592
tion associated with a 3-bp deletion (SC) 355 Borot N —> Malfroy L
in exon 10 of the gp91-phox gene, Belloni E Brancolini V Bost M, Berkaw M, McBride OW,
detected in two patients with X-linked Belohradsky B Schuffenhauer S Chazot G, Amaud P; Restriction poly¬
chronic granulomatous disease (O) 6 Beneyto M —» Bayes M morphisms of the ceruloplasmin gene
Amaud P Bost M Beneyto M Millan JM on chromosome 3 (DV) 239
IV
Bottini E. Gloria-Bottini F, Borgiani P: Carmo-Fonseca M —> Telhada M Desgeorges M, Rodier M. Piot M,
ACPI and human adaptability. Carrera P —> Barbieri AM IDemaille J, Claustres M; Four adult
1. Association with common diseases; Carrozzo R —* Regis S patients with the missense mutation
a case-control study (O) 629 Carvalho C —> Telhada M L206W and a mild cystic fibrosis
Bottini E Lucarini N Casademont J —» Barrientos A phenotype (O) 717
Botto M —* Hohler T Castiglione E Doose H Diener HC —> May A
Bouvagnet P —> Demczuk S Catheline M Ferec C Dierich MP —> Steinhuber S
Brack M —> Steinhuber S Cave H —> Martin E Dierick HA —> Begy CR
Brambati B Benitez J Celis JE Bprglum AD Dieudonne P —» Nores JM
Brancolini V, Cremonesi L. Belloni E, Chaminade F Bonaventure J Digilio MC, Marino B, Giannotti A,
Pappalardo E. Bordoni R, Seia M, Chazot G —> Bost M Dallapiccola B: Single atrium, atrio¬
Russo S, Padoan R, Giunta A. Chebat J —> Nores JM ventricular canal/postaxial hexodactyly
Ferrari M: Search for mutations in Chen H ^ Tuck-Muller CM indicating Ellis-van Creveld syndrome
pancreatic sufficient cystic fibrosis Chevret E —> Rousseaux S (L) 251
Italian patients: detection of 90% of Chiba H Akita H Dobner M Lieburg AF van
molecular defects and identification Chomel J-C —» Amati P Dominguez AM, Smith SA, Greenbaum
of three novel mutations (O) 312 Clark PA, Lester T, Genet S, Jones AM, IF; Susceptibility of heterochromatin
Branski D —> Kerem E Hendriks R, Levinsky RJ, Kinnon C: to aphidicolin-induced chromosomal
Braun A —> Gathof BS Screening for mutations causing breakage (O) 516
Bravo ML -4 Valenzuela CY X-linked severe combined immuno¬ Doose H, Castiglione E, Waltz S:
Breedveld FC Brinkman BMN deficiency in the 1L-2Ry chain gene by Parental generalized EEG alpha activity
Breschel TS Margolis RL single-strand conformation polymor¬ predisposes to spike wave discharges
Breukel C —> Luijt RB van der phism analysis (O) 427 in offspring (O) 695
Breuning M Almeida S de Claustres M —> Desgeorges M Doudounakis S —» Kanavakis E
Brinkman BMN, Kaijzel EL, Huizinga Cobben J-M —> Steege G van der Dowling E —> Tuck-Muller CM
TWJ, Giphart MJ, Breedveld FC, Codet JP —> Ferec C Dreesen JCFM, Geraedts JPM,
Verweij CL: Detection of a C-insertion Collins VP —> Phelan CM Dumoulin JCM, Evers JLH, Pieters
polymorphism within the human tumor Colloridi V —> Mari A MHEC: RS46(DXS548) genotyping
necrosis factor alpha (TNFA) gene Commer9on P Kottler ML of reproductive cells: approaching
(DV) 493 Cooper DN —> Krawczak M preimplantation testing of the fragile-X
Briones P —> Garci'a-Perez MA Coppin H —> Malfroy L syndrome (O) 323
Brock DJH —> Scrimgeour EM Costa PP —> Almeida MR Drunen E van Mulder MP
Broly F, Marez D, Lo Guidice J-M, Cotton RGH —> Ramus SJ Duff C —> Dechert U
Sabbagh N, Legrand M, Boone P, Counis R —> Kottler ML Dumoulin JCM Dreesen JCFM
Meyer UA; A nonsense mutation in Cozzi J —^ Rousseaux S Dumur V, Trivier E, Puech B, Peugnet F,
the cytochrome P450 CYP2D6 gene Crawford F —> Poduslo SE Zanlonghi X, Hache JC, Hanauer A:
identified in a Caucasian with an Cremer M —> Azofeifa J Genetic analysis of new French
enzyme deficiency (O) 601 Cremonesi L —» Brancolini V X-linked juvenile retinoschisis kin¬
Brown DC, Grace E, Sumner AT, Critchley DR Gilmore AP dreds using microsatellite markers
Edmunds AT, Ellis PM: ICF syndrome Croquette M-F —> Demczuk S closely linked to the RS locus: further
(immunodeficiency, centromeric narrowing of the RS candidate region
instability and facial anomalies): Dagome M Ferec C (O) 79
investigation of heterochromatin Daimon M, Morita Y, Yamatani K, Duncan AMV —» Dechert U
abnormalities and review of clinical Igarashi M, Fukase N, Kawanami T, Duwig 1 —> Wajcman H
outcome (O) 411 Kato T, Tominaga M, Sasaki H: Dvofakova D —» Kozak L
Brown G —> Matthews PM Dinucleotide repeat jxilymorphism in
Brown RM Matthews PM the human ceruloplasmin gene (DV) Eckardstein A von —> Nofer J-R
Brunner HG, Ropers HH: Reply to 736 Edmunds AT —^ Brown DC
Hebebrand and Klug (L) 374 Dalayeun JF —> Nores JM Egan SE —^ Yulug IG
Brunt ERP —> Verschuuren-Bemelmans CC Dallapiccola B Digilio MC Egilsson V —> Bergthorsson JT
Buchholz T —> Schuffenhauer S Dallapiccola B Mari A Eiberg H, Lund AM, Warburg M,
Burt M —> Pyper W Danglot G —^ Regnier V Rosenberg T: Assignment of congenital
Burton M —> Verschuuren-Bemelmans CC Dastugue B —> Mimault C cataract Volkmann type (CCV) to
Buske A —> Robinson PN Davignon J Sass C chromosome lp36 (O) 33
Buys CHCM ^ Hofstra RMW Dechert U, Duncan AMV, Bastien L, Eijk R van —> May A
Buys CHCM —> Steege G van der Duff C, Adam M, Jirik FR: Protein- Eiriksdottir G —> Bergthorsson JT
Buys CHCM Verschuuren-Bemelmans tyrosine phosphatase SH-PTP2 Ekstrom U, Abrahamson M, Sveger T,
CC (PTPNII) is localized to 12q24.1-24.3 Lombardi P, Nilsson-Ehle P: An effi¬
(O) 609 cient screening procedure detecting six
Cacheux V —> Martin E Deelen WH —> Mulder MP novel mutations in the LDL receptor
Cailloux F —> Mimault C Delafontaine D —> Rousseaux S gene in Swedish children with hyper¬
Calandro LM, Baer DM, Sensabaugh GF: Delattre O —> Bijlsma EK cholesterolemia (O) 147
Characterization of a recombinant that Demaille J —> Desgeorges M El-Awady M —> Abd El-Aleem A
locates the hereditary hemochromatosis Demczuk S, Levy A, Aubry M, Ellis PM —> Brown DC
gene telomeric to HLA-F (SC) 339 Croquette M-F, Philip N, Prieur M, El-Rifai W —> Slunga-Tallberg A
Calzone R Emerit 1 Sauer U, Bouvagnet P, Rouleau GA, Emerit 1, Levy A, Pagano G, Pinto L,
Caporossi D, Vemole P, Nicoletti B, Thomas G, Aurias A; Excess of Calzone R, Zatterale A; Transferable
Tedeschi B; Characteristic chromo¬ deletions of maternal origin in the clastogenic activity in plasma from
somal fragility of human embryonic DiGeorge/Velo-cardio-facial syn¬ patients with Fanconi Anemia (O) 14
cells exposed in vitro to aphidicolin dromes. A study of 22 new patients Ermis A, Henn W, Remberger K,
(O) 269 and review of the literature (O) 9 Hopf C, Hopf T, Zang KD; Proliferation
Cardellach F Barrientos A Desai T —» Krishnan SN enhancement by spontaneous multipli-
V
cation of chromosome 7 in rheumatic polymorphism in alopecia areata (O) Grace E —> Brown DC
synovial cells in vitro (O) 651 433 Gracia R —> Ezquieta B
Espinosa III R —> Zhou J Gancedo PG —> Ezquieta B Graff C, Urbak SF, Jemdal T,
Estivill X —» Barrientos A Gaona A —* Lazaro C Wadelius C: Confirmation of linkage
Estivill X —> Lazaro C Garcia-Mufioz MJ —* Garcia-Perez MA to lq21-31 in a Danish autosomal
Estivill X —> Ramos MD Garci'a-Perez MA, Sanjurjo P, Briones P, dominant juvenile-onset glaucoma
Estivill X —> Soria JM Garcia-Munoz MJ, Rubio V: A splicing family and evidence of genetic hetero¬
Evers JLH —> Dreesen JCFM mutation, a nonsense mutation (Y167X) geneity (O) 285
Ezquieta B, Oliver A. Gracia R, Gancedo and two missense mutations (I159T Grandchamp B —» Martin E
TO; Analysis of steroid 21 -hydroxylase and A209V) in Spanish patients with Greenbaum IF —> Dominguez AM
gene mutations in the Spanish popula¬ ornithine transcarbamylase deficiency Gresser U Gathof BS
tion (O) 198 (O) 549 Grimelius L Zedenius J
Garcia Yebenes J —» Benitez J Grinberg D Bayes M
Fahsold R, Habash T, Trautmann U, Gasch A —> Huschenbett J Groenewald IM, Wamich L. Retief AE:
Haustein A. Pfeiffer RA: Familial Gathof BS, Sommer M, Podskarbi T, Dinucleotide repeat polymorphism at
reciprocal translocation t(17;19) Reichardt J, Braun A, Gresser U, the D5S99 locus on chromosome
(ql i.2;ql3.2) associated with neuro¬ Shin YS: Characterization of two stop 5q33-34 (DV) 497
fibromatosis typie 1, including one codon mutations in the galactose-1 - Gron-Virta K Laan M
patient with non-Hodgkin lymphoma phosphate uridyltransferase gene of Grote W —> Jendemy J
and an additional t(14;20) in B lympho¬ three male galactosemic patients with Gyorvari B ^ Tar A
cytes (O) 65 severe clinical manifestation (O) 721
Fajkusova L —> Kozak L Gatti R —> Regis S Haan J May A
Fang Y-R —» Muramatsu T Geerkens C, Vetter U, Just W, Fedarko Habash T —> Fahsold R
Fedarko NS —> Geerkens C NS, Fisher LW, Young MF, Termine Hache JC Dumur V
Fellous M -> Tar A JD, Robey PG, Wohrle D, Vogel W: Haddad GG —> Krishnan SN
Ferec C, Verlingue C, Parent P, Morin JF, The X-chromosomal human biglycan Hagemeijer A —> Mulder MP
Codet JP, Rault G, Dagome M, gene BGN is subject to X inactivation Hakoda M, Hirai Y, Akiyama M.
Lemoigne A, Joumel H, Roussey M, but is transcribed like an X-Y homolo¬ Yamanaka H, Terai C, Kamatani N,
Le Marec B, Catheline M, Audrezet MP, gous gene (O) 44 Kashiwazaki S: Selection against
Mercier B: Neonatal screening for Geisel J, Holzem G, Oette K: Screening blood cells deficient in hypoxanthine
cystic fibrosis: result of a pilot study for mutations in exon 4 of the LDL phosphoribosyltransferase (HPRT) in
using both immunoreactive trypsinogen receptor gene in a German population Lesch-Nyhan heterozygotes occurs at
and cystic fibrosis gene mutation with severe hypercholesterolemia (O) the level of multipiotent stem cells (O)
analyses (O) 542 301 674
Ferlini A Almeida MR Genet S —» Clark PA Halley DJJ Mulder MP
Ferrari M Barbieri AM Geraedts JPM —> Dreesen JCFM Halliday J —» Pyper W
Ferrari M Brancolini V Gerhard DS —> Smith CM Hanauer A —> Dumur V
Ferrari MD —> May A Giannotti A —> Digilio MC Harada S —* Muramatsu T
Ferreira R —> Pereira E Giannotti A —» Mari A Harms D —> Jendemy J
Feunteun J —> Montagna M Gibson L Lin C-L Haubenwallner S —» Steyrer E
Filocamo M —> Regis S GieBauf W —> Steyrer E Haustein A —> Fahsold R
Fisher EMC —» Bermingham N Gilgenkrantz S Amati P Hebebrand J, Klug B: Specification of
Fisher EMC Yulug IG Gillessen-Kaesbach G, Robinson W, the phenotype required for men with
Fisher LW —> Geerkens C Lohmann D, Kaya-Westerloh S, monoamine oxidase type A deficiency
Fleury P —> Bijisma EK Passarge E, Horsthemke B: Genotype- (L) 372
Flint T Bprglum AD phenotype correlation in a series of 167 Hebebrand J, Klug B: Reply to Bmnner
Florentin L, Bili C, Kekou K, Tripodis N, deletion and non-deletion patients with and Ropers (L) 375
Mavrou A, Metaxotou C: Mapping Prader-Willi syndrome (O) 638 Hendriks R —» Clark PA
dystrophin gene recombinants in Greek Gilmore AP, Ohanian V, Spurr NK, Henn W —> Ermis A
DMD/BMD families: low recombina¬ Critchley DR: Localisation of the Hermelin B —> Pereira E
tion frequencies in the STR region (O) human gene encoding the cytoskeletal Heuertz S, Smahi A, Wilkie AOM,
423 protein talin to chromosome 9p (SC) Le Merrer M, Maroteaux P,
Fodde R Luijt RB van der 221 Hors-Cayla M-C: Genetic mapping
Fong F —> Schreiber WE Gilmour F —> Bermingham N of Xp22.12-p22.31, with a refined
Fomage M, Turner ST, Sing CF, Giphart MJ —> Brinkman BMN localization for spondyloepiphyseal
Boerwinkle E: Variation at the M235T Giraud G —^ Mimault C dysplasia (SEDL) (O) 407
locus of the angiotensinogen gene and Girbau E —> Ramos MD Heuvel LPWJ van den Kluijtmans LAJ
essential hypertension: a population- Girodon E —> Wajcman H Heuvel LPWJ van den —> Luyten JAFM
based case-control study from Giroux L-M —^ Sass C Higuchi S —> Muramatsu T
Rochester, Minnesota (O) 295 Giunta A —> Brancolini V Hillermann R Bermingham N
Frants RR May A Gloria-Bottini F —> Bottini E Hinkel GK —> Schuffenhauer S
Fricke G Nordenskjold A Gloria-Bottini F —> Lucarini N Hirai Y —» Hakoda M
Friedman M —> Kerem E Glover TW —^ Begy CR Hisao S —> Mori Y
Fujimoto A Lin MS Godfrey S —> Kerem E Hixson JE, Powers PK: Detection and
Fukase N Daimon M Gomez-Lira M, Sangalli A, Mottes M, characterization of new mutations in the
Fukushige T Kobayashi K Perusi C, Pignatti PF, Rizzuto N, human angiotensinogen gene (AGT)
Fukushima Y —» Ikegawa S Salviati A: A common P hexos¬ (SC) 110
Funke H —> Nofer J-R aminidase gene mutation in adult Hofler H Becker K-F
Sandhoff disease patients (O) 417 Hohler T, Botto M, Rittner C, Schneider
Galacteros F —> Wajcman H Gonzalez-Duarte R —> Bayes M PM. Meyer zum Biischenfelde K-H:
Galbraith GMP, Pandey JP: Tumor Goossens M —> Wajcman H Complement component C3: molecular
necrosis factor alpha (TNF-a) gene Gorski JL —> Pasteris NG basis of the C3*S025 variant and evi-
VI
dence for molecular heterogeneity of Kaijzel EL —> Brinkman BMN Kono H —) Muramatsu T
other variants (O) 539 Kainulainen K, Swan H, Miettinen H, Kontula K —> Kainulainen K
Horl G —> Steyrer E Viitasalo M, Rovamo L, Toivonen L, Korneluk RG Rajcan-Separovic E
H66g A Zedenius J Kontula K: Linkage of the long QT Korneluk RG —> Yaraghi Z
Hofstra RMW, Stelwagen T, Pasini B, syndrome to the short arm of chromo¬ Kostner GM —» Steyrer E
Veen AY van der. Ponder BAJ, some 11: use of five highly poly¬ Kottler ML, Lorenzo F, Bergametti F,
Nakamura Y, Romeo G. Buys CHCM; morphic markers towards more detailed Commeryon P, Souchier C, Counis R;
Ordering of markers in the pericentro- localization of the mutant gene (O) Subregional mapping of the human
meric region of chromosome 10 (SC) 395 gonadotropin-releasing hormone
116 Kakinoki H —> Kobayashi K receptor (GnRH-R) gene to 4q between
Holmberg E —> Tulinius MH Kalman YM —) Kerem E the markers EMS392 and D4S409 (SC)
Holme E —> Tulinius MH Kamatani N —» Hakoda M 477
Holmgren G —> Almeida MR Kanavakis E, Tzetis M, Antoniadi T, Kotze MJ —> Peeters AV
Holzem G —> Geisel J Traeger-Synodinos J, Doudounakis S, Kozak L, Kuhrova V, Blaikova M,
Hopf C —> Ermis A Adam G, Matsaniotis N, Kattamis C: Romano V, Fajkusova L, Dvofakova D,
Hopf T —> Ermis A Mutation analysis of ten exons of the Pijackova A: Phenylketonuria mutations
Hors-Cayla M-C —> Heuertz S CFTR gene in Greek cystic fibrosis and their relation to RFLP haplotypes at
Horst J Meschede D patients; characterization of 74.5% of the PAH locus in Czech PKU families
Horsthemke B Gillessen-Kaesbach G CF alleles including one novel mutation (SC) 472
Houshmand M —> Tulinius MH (SC) 364 Kraft S Schuffenhauer S
Hu K-B Muramatsu T Kaplan J —> Amati P Krawczak M; Locus homogeneity for
Hiibner C Azofeifa J Kashiwazaki S —> Hakoda M cartilage-hair hypoplasia proven?
Hui S-P ^ Akita H Kato T —> Daimon M (L) 371
Huizinga TWJ —> Brinkman BMN Kattamis C —> Kanavakis E Krawczak M, Reitsma PH, Cooper DN:
Hulsebos TJM —> Bijlsma EK Katzer A —> Huschenbett J The mutational demography of protein
Hunsmann G —> Steinhuber S Kaufmann D —> Robinson PN C deficiency (O) 142
Huschentett J, Gasch A, Katzer A, Kaufmann T Zhang L Krishnan SN, Desai T, Ward DC,
Affeldt M, Speer A: Mapping of a Kawanami T Daimon M Haddad GG; Isolation and chromosomal
human rRNA gene in the YAC contig Kaya-Westerloh S —> Gillessen-Kaesbach G localization of a human ATP-regulated
surrounding the SMA candidate gene Keinanen M —» Slunga-Tallberg A potassium channel (O) 155
(SC) 335 Kekou K —> Florentin L Krone W —> Stark M
Kerem B —> Kerem E Kruse TA —> Bprglum AD
Igarashi M Daimon M Kerem E, Kalman YM, Yahav Y, Kruyer H —> Lazaro C
Ikeda J-E —^ Rajcan-Separovic E Shoshani T, Abeliovich D, Szeinberg A, Kuhrova V Kozak L
Ikeda J-E —» Yaraghi Z Rivlin J, Blau H, Tal A, Ben-Tur L. Kurki T —> Slunga-Tallberg A
Ikegawa S, Fukushima Y, Isomura M, Springer C, Augarten A, Godfrey S, Kusyk C —> Tuck-Muller CM
Takada F, Nakamura Y: Mutations of Lerer I, Branski D, Friedman M, Kytolii S, Leisti J, Winqvist R, Salmela P:
the fibroblast growth factor receptor-3 Kerem B: Highly variable incidence of Improved carrier testing for multiple
gene in one familial and six sporadic cystic fibrosis and different mutation endocrine neoplasia, type 1, using new
cases of achondroplasia in Japanese distribution among different Jewish microsatellite-tyjje DNA markers (O)
patients (O) 309 ethnic groups in Israel (O) 193 449
Ingvarsson S ^ Bergthorsson JT Kidwai AS Margolis RL
Innis JW —> Begy CR Kilimann MW Wehner M Laan M, Gron-Virta K, Salo A, Aula P,
Ion A —> Tar A Kimmel BS, Miniou P, Robbins SL, Peltonen L, Palotie A, Syviinen A-C:
Iselius L —> Russell MB Malkowicz SB, Linnenbach AJ: Three Solid-phase minisequencing confirmed
Ishii N —> Minegishi Y new dinucleotide repeat polymorphisms by FISH analysis in determination of
Isomura M —> Ikegawa S on human chromosome 9: D9S970, gene copy number (O) 275
D9S971, and D9S972 (DV) 237 Laine A Pigny P
Jiinig U —> Jendemy J Kinnon C —> Clark PA Lajeunie E Ma HW
Jakobs C —> Uchino T Kister J Wajcman H Lalueza C —» Ramos MD
Jamani A —> Schreiber WE Kitzis A —> Amati P Lambert M —> Uchino T
Janes L —> Rajcan-Separovic E Kline R —^ Pellegrino JE Lamport E Wajcman H
Jauch A, Robson L, Smith A: Investi¬ Klinger K —> Slunga-Tallberg A Langenhoven E Peeters AV
gations with fluorescence in situ Klug B —> Hebebrand J Langeveld A Mulder MP
hybridization (FISH) demonstrate loss Kluijtmans LAJ, Blom HJ, Boers GHJ, Lapierre JM —> Martin E
of the telomeres on the reciprocal chro¬ Oost BA van, Trijbels FJM, Heuvel Larsson C —> Zedenius J
mosome in three unbalanced transloca¬ LPWJ van den: Two novel missense Larsson N-G Tulinius MH
tions involving chromosome 15 in the mutations in the cystathionine P-syn- La Torre M Lucarini N
Prader-Willi and Angelman syndromes thase gene in homocystinuric patients Lavigne J —» Sass C
(SC) 345 (DV) 249 Lavinha J Almeida S de
Jazwinska E —> Pyjjer W Knoers NVAM —> Lieburg AF van Lazaro C, Kruyer H, Gaona A, Estivill X:
Jendemy J, Kbster E, Meyer A, Borchers Knuutila S —> Slunga-Tallberg A Two further cases of mutation R1947X
O, Grote W, Harms D, Janig U: Kobayashi K —^ Akita H in the NFl gene: screening for a rela¬
Detection of chromosome aberrations Kobayashi K, Kakinoki H, Fukushige T, tively common recurrent mutation (SC)
in paraffin sections of seven gonadal Shaheen N, Terazono H, Saheki T: 361
yolk sac tumors of childhood (O) 644 Nature and frequency of mutations in LeBeau MM ^ Zhou J
Jemdal T —> Graff C the argininosuccinate synthetase gene Leclercq A —> Pigny P
Jirik FR —> Dechert U that cause classical citrullinemia (O) Legrand M —> Broly F
Jones AM —> Clark PA 454 Leisti J —> Kytbla S
Jong JGN de Luyten JAFM Kocher DB —> Trump D Le Marec B —> Ferec C
Joumel H Ferec C Kohler E —> Nofer J-R Le Merrer M —> Heuertz S
Just W Geerkens C Koster E —> Jendemy J Le Merrer M —> Ma HW
VII
Lemoigne A —» Ferec C of the arylsulfatase A gene in a late Meijers C —> Mulder MP
Lench NJ, Thompson J, Markham AF, infantile variant (SC) 357 Meitinger T —> Schuffenhauer S
Robinson PA: (CGG) trinucleotide Mendez Del Castillo D —» Pereira E
repeat polymorphism in the 5' region of Ma HW, Lajeunie E, Le Merrer M, Mensink RGJ —> Verschuuren-Bemelmans
the HHR6B gene: the human homolog Parseval N de, Serville F, Weissenbach CC
of the yeast DNA repair gene RAD6 J, Munnich A. Renier D: No evidence Mercier B Ferec C
(DV) 369 of genetic heterogeneity in Crouzon Merel P —> Bijlsma EK
Lenoir GM —^ Montagna M craniofacial dysostosis (O) 731 Meschede D, Nieschlag E, Horst J:
Le Paslier D —> Martin E Ma Y Sass C The importance of clinical documenta¬
Leren TP, Solberg K, Rodningen OK, MacKenzie A —> Yaraghi Z tion in genetic studies of male infertility
Tonstad S, Ose L: Two novel {X)int Madan K: Paracentric inversions: a review (L) 500
mutations in the EGF precursor homol¬ (R) 503 Metaxotou C —> Florentin L
ogy domain of the LDL receptor gene Madsen P —> Bprglum AD Meulen MA van der —> Verschuuren-
causing familial hypercholesterolemia Maeda H Minegishi Y Bemelmans CC
(DV) 241 Malfroy L, Viratelle C, Coppin H, Meyer A —* Jendemy J
Lerer 1 Kerem E Borot N, Roth MP: Polymorphic tri- Meyer UA —> Broly F
Lester T Clark PA and tetranucleotide repeats in exons 1 Meyer zum Biischenfelde K-H Hohler T
Levinsky RJ —» Clark PA and 8 of the myelin oligodendrocyte Miettinen H —» Kainulainen K
Levy A —» Demczuk S glycoprotein (MOG) gene (DV) 737 Millan JM, Martinez F, Vilela C,
Levy A —> Emerit 1 Malkowicz SB Kimmel BS Beneyto M, Prieto F, Najera C:
Li S Tuck-Muller CM Marchington D —> Matthews PM An autosomal dominant retinitis pig¬
Li S-H —» Margolis RL Marez D —> Broly F mentosa family with close linkage to
Lieburg AF van, Verdijk MAJ, Schoute F, Margolis RL, Breschel TS, Li S-H, D7S480 on 7q (SC) 216
Ligtenberg MJL, Oost BA van, Wald- Kidwai AS, Mclnnis MG, Ross CA: Mimault C, Cailloux F, Giraud G,
hauser F, Dobner M, Monnens LAH, Polymorphic (AAT)n trinucleotide Dastugue B, Boespflug-Tanguy O:
Knoers NVAM: Clinical phenotype rejjeats derived from a human brain Dinucleotide repeat polymorphism in
of nephrogenic diabetes insipidus in cDNA librai7 (DV) 495 the proteolipoprotein (PLP) gene (DV)
females heterozygous for a vasopressin Mari A, Amati F, Mingarelli R, 236
type 2 receptor mutation (O) 70 Giannotti A, Sebastio G, Colloridi V, Minegishi Y, Ishii N, Maeda H, Takagi S,
Ligtenberg MJL —> Lieburg AF van Novelli G, Dallapiccola B: Analysis Tsuchida M, Okawa H, Sugamura K,
Lin C-L, Gibson L, Pober B, Yang-Feng of the elastin gene in 60 patients with Yata J: Three novel mutations in the
TL: A de novo satellited short arm of clinical diagnosis of Williams syndrome interleukin-2 receptor y chain gene in
the Y chromosome fjossibly resulting (O) 444 four Japanese patients with X-linked
from an unstable translocation (O) Marino B —» Digilio MC severe combined immunodeficiency (O)
585 Markham AF —> Lench NJ 681
Lin MS, Zhang A, Fujimoto A: Asyn¬ Maroteaux P —> Bonaventure J Mingarelli R Mari A
chronous DNA replication between Maroteaux P —> Heuertz S Miniou P —¥ Kimmel BS
15ql 1.2ql2 homologs: cytogenetic Martin E, Cacheux V, Cave H, Lapierre Minnich A —» Sass C
evidence for maternal imprinting and JM, Le Paslier D, Grandchamp B: Miura Y Mori Y
delayed replication (O) 572 Localization of the CDKN4/p27'^'P' Monnens LAH —» Lieburg AF van
Lindhout D May A gene to human chromosome 12pl2.3 Montagna M, Serova O, Sylla BS,
Lindstedt M —> Zhang Z (O) 668 Feunteun J, Lenoir GM: A 100-kb
Linnenbach AJ —> Kimmel BS Martin JE —> Bermingham N physical and transcriptional map around
Liu L —> Phelan CM Martinez F Millan JM the EDH17B2 gene: identification of
Lo Guidice J-M Broly F Martinez JE —> Tuck-Muller CM three novel genes and a pseudogene of
Lohmann D —> Gillessen-Kaesbach G Mastropaolo C —> Regis S a human homologue of the rat PRL-1
Lombardi P —> Ekstrom U Matsaniotis N —> Kanavakis E tyrosine phosphatase (O) 532
Lonsdorfer J —> Wajcman H Matsuda 1 —> Uchino T Monteil M Rousseaux S
Lorenzo F Kottler ML Matsumoto S Ariga T Moral P —> Barrientos A
Lucarini N, Nicotra M, Gloria-Bottini F, Matsuno K —» Akita H Morell M —» Soria JM
Borgiani P, Amante A, Muttinelli C, Matthews PM, Brown RM, Morten K, Mori Y, Miura Y, Oiso Y, Hisao S,
Signoretti F, La Torre M, Bottini E: Marchington D, Poulton J, Brown G: Takazumi K: Precise localization of the
Interaction between ABO blood groups Intracellular heteroplasmy for disease- human thyroxine-binding globulin gene
and ADA genetic polymorphism during associated point mutations in mtDNA: to chromosome Xq22.2 by fluorescence
intrauterine life. A comparative analysis implications for disease expression and in situ hybridization (SC) 481
of couples with habitual abortion and evidence for mitotic segregation of Morin JF Ferec C
normal puerperae delivering a live-bom heteroplasmic units of mtDNA (O) Morita Y —> Daimon M
infant (O) 527 261 Morten K —> Matthews PM
Luijt RB van der, Vasen HFA, Tops CMJ, Mavrou A Florentin L Mottes M Gomez-Lira M
Breukel C, Fodde R. Meera Khan P: May A, Ophoff RA, Terwindt GM, Miiller U —» Steinberger D
APC mutation in the alternatively Urban C, Eijk R van, Haan J, Diener Miiller-Navia J, Nebel A, Schleiermacher
spliced region of exon 9 associated HC, Lindhout D, Frants RR, Sandkuijl E: Complete and precise characteriza¬
with late onset familial adenomatous LA, Ferrari MD: Familial hemiplegic tion of marker chromosomes by appli¬
polyposis (O) 705 migraine locus on 19pl3 is involved in cation of microdissection in prenatal
Lund AM —> Eiberg H the common forms of migraine with diagnosis (O) 661
Lundell G —> Zedenius J and without aura (O) 604 Miintzning K Phelan CM
Lussier-Cacan S —> Sass C McBride OW —> Bost M Mulder MP, Wilke M, Langeveld A,
Luyten JAFM, Wenink PW, Steenbergen- McClain DA —» Zhou J Wilming LG, Hagemeijer A, Drunen E
Spanjers GCH, Wevers RA. Ploos van McElreavey K Tar A van, Zwarthoff EC, Riegman PHJ,
Amstel HK. Jong JGN de, Heuvel Mclnnis MG —> Margolis RL Deelen WH, Ouweland AMW van den,
LPWJ van den: Metachromatic leuko¬ McLean MD —> Yaraghi Z Halley DJJ, Meijers C: Positional map¬
dystrophy: a 12-bp deletion in exon 2 Meera Khan P —> Luijt RB van der ping of loci in the DiGeorge critical
VIII
region at chromosome 22q 11 using a Palotie A Laan M Poulton J —> Matthews PM
new marker (D22S183) (O) 133 Pandey JP —> Galbraith GMP Powell L —> Pyper W
Mullan M —* Poduslo SE Pang JT —> Trump D Powers PK Hixson JE
Mulliken JB Steinberger D Pappalardo E —> Brancolini V Prata MM Almeida S de
Munar-Ques M Almeida MR Parent P —> Ferec C Pratt WS —> Pigny P
Munnich A —> Ma HW Parreira L —» Telhada M Prieto F —» Millan JM
Muramatsu T, Wang Z-C, Fang Y-R, Parseval N de —> Ma HW Prieur M —> Demczuk S
Hu K-B, Yan H, Yamada K, Higuchi S, Pasini B —> Hofstra RMW Prome D —> Wajcman H
Harada S, Kono H: Alcohol and alde¬ Passarge E —> Gillessen-Kaesbach G Puech B —» Dumur V
hyde dehydrogenase genotypes and Pasteris NG, Gorski JL: An intragenic Pyper W, Burt M, Powell L, Webb S,
drinking behavior of Chinese living in 7a^I f)olymorphism in the faciogenital Ades L, Halliday J, Jazwinska E:
Shanghai (O) 151 dysplasia (FGDl) locus, the gene A region of primer binding variation
Muttinelli C —> Lucarini N responsible for Aarskog syndrome at the D6S265 locus associated with
(DV) 494 HLA-A25 and HLA-A26 antigens
Najera C —> Millan JM Pearce SHS Trump D (DV) 490
Nakamura Y —> Hofstra RMW Peeters AV, Van Gaal LF, Theart L,
Nakamura Y Ikegawa S Langenhoven E, Kotze MJ: Two novel Quevedo S —> Ramos MD
Nassar BA —> Schreiber WE frameshift mutations in the low density Qureshi lA —> Uchino T
Nassiff H —> Pereira E lipoprotein receptor gene generated by
Nebel A —> Muller-Navia J endogenous sequence-directed mecha¬ Rajcan-Separovic E, Wang H-S,
Neidigh JL ^ Zbou J nisms (O) 401 Sjjeevak MD, Janes L, Korneluk RG,
Nguyen VC —> Pigny P Pellegrino JE, Schnur RE, Kline R, Wakasa K, Ikeda J-E: Identification of
Nguyen V-C —> Regnier V Zackai EH, Spinner NB: Mosaic loss the origin of double minutes in normal
Nicoletti B —> Caporossi D of 15ql lql3 in a patient with hypo- human cells by laser-based chromosome
Nicotra M —> Lucarini N melanosis of Ito: is there a role for the microdis.section approach (O) 39
Nieminen P, Arte S, Pirinen S, Peltonen L, P gene? (CC) 485 Ramos C —> Benitez J
Thesleff I: Gene defect in hypodontia: Pelletier R —> Rousseaux S Ramos MD, Lalueza C, Girbau E,
exclusion of MSXl and MSX2 as Peltonen L —> Laan M Perez-Perez A, Quevedo S, Turbon D,
candidate genes (O) 305 Peltonen L —> Nieminen P Estivill X: Amplifying dinucleotide
Nieschlag E —> Meschede D Pereira E, Ferreira R, Hermelin B, microsatellite loci from bone and tooth
Nilsson-Ehle P —» Ekstrom U Thomas G, Bernard C, Bertrand V, samples of up to 5000 years of age:
Nivelon-Chevalier A —> Amati P Nassiff H, Mendez Del Ca.stillo D, more inconsistency than usefulness (O)
Nofer J-R, Eckardstein A von, Wiebusch H, Bereziat G, Benlian P: Recurrent and 205
Weng W, Funke H, Schulte H, Kohler E, novel LDL receptor gene mutations Ramus SJ, Cotton RGH: Polymorphism
Assmann G: Screening for naturally causing heterozygous familial hyper¬ in the 3' untranslated region of the
occurring apolipoprotein A-I variants: cholesterolemia in La Habana (O) 319 phenylalanine hydroxylase gene de¬
apo A-1(AK107) is associated with low Perez-Perez A —» Ramos MD tected by enzyme mismatch cleavage:
HDL-cholesterol levels in men but not Perusi C —> Gomez-Lira M evolution of haplotypes (DV) 741
in women (O) 177 Peters D Almeida S de Rault G —> Ferec C
Nordenskjold A, Fricke G, Anvret M: Peters H Robinson PN Regis S, Carrozzo R, Filocamo M,
Absence of mutations in the WT1 gene Petropoulou T —> Schuffenhauer S Serra G, Mastropaolo C, Gatti R:
in patients with XY gonadal dysgenesis Peugnet F —> Dumur V An AT-deletion causing a frameshift
(SC) 102 Pfeiffer RA —> Fahsold R in the arylsulfatase A gene of a late
Nores JM, Dalayeun JF, Chebat J, Phelan CM, Liu L, Ruttledge MH, infantile metachromatic leukodystrophy
Dieudonne P, Remy JM: Role of Miintzning K, Ridderheim P-A, patient (SC) 233
genetic factors in bronchial cancer. Collins VP: Chromosome 17 abnor¬ Regnier V, Danglot G, Nguyen V-C,
Based upon a case of anaplastic lung malities and lack of TP53 mutations Bemheim A: A Tsp509l variant in
carcinoma in identical twins (CC) 483 in paediatric central nervous system exon 13 of the neurofibromatosis type 1
North ML —> Wajcman H tumours (O) 684 (NFI) gene allows the identification of
Novelli G —> Mari A Philip N Demczuk S both alleles at the mRNA level (DV)
Niimberg P Robinson PN Pieters MHEC —> Dreesen JCFM 131
Nunes V —> Barrientos A Pignatti PF —» Gomez-Lira M Reich U —» Becker K-F
Pigny P, Pratt WS, Laine A, Leclercq A, Reichardt J —> Gathof BS
Oberling F Wajcman H Swallow DM, Nguyen VC, Aubert JP, Reitsma PH —» Krawczak M
Oette K —> Geisel J Porchet N: The MUC5AC gene: Remberger K —> Ermis A
Ohanian V —> Gilmore AP RFLP analysis with the Jer58 probe Remy JM —> Nores JM
Oiso Y Mori Y (DV) 367 Renier D —> Ma HW
Okawa H —> Minegishi Y PijaCkova A —> Kozak L Retief AE —> Groenewald IM
Oldfors A —> Tulinius MH Pinto JR Almeida S de Ridderheim P-A —> Phelan CM
Olesen J Russell MB Pinto L —> Emerit I Riegman PHJ —> Mulder MP
Oliver A Ezquieta B Piot M —> Desgeorges M Riggs D —> Poduslo SE
Ommen G-JB van —> Steege G van der Pirinen S —> Nieminen P Rittner C —> Hohler T
Oost BA van —> Kluijtmans LAJ Plassa F —> Wajcman H Rittner C —> Zhang L
Oost BA van —> Lieburg AF van Ploos van Amstel HK —> Luyten JAFM Rivlin J —> Kerem E
Ophoff RA —> May A Pober B —> Lin C-L Rizzuto N —> Gomez-Lira M
Osborne A Poduslo SE Podskarbi T Gathof BS Robbins SL —> Kimmel BS
Ose L —> Leren TP Poduslo SE, Riggs D, Schwankhaus J, Robey PG —» Geerkens C
Osinga J —> Steege G van der Osborne A, Crawford F, Mullan M: Robinson PA —> Lench NJ
Ouweland AMW van den —> Mulder MP Association of apolipoprotein E but not Robinson PN, Boddrich A, Peters H,
B with Alzheimer’s disease (O) 597 Tinschert S, Buske A, Kaufmann D,
Padoan R —» Brancolini V Ponder BAJ —> Hofstra RMW Niimberg P: Two recurrent nonsense
Pagano G —> Emerit 1 Porchet N —> Pigny P mutations and a 4 bp deletion in a
IX
quasi-symmetric element in exon 37 of Wegner R-D: DNA. FISH and comple¬ (SMA) as shown by recombinant
the NFl gene (SC) 95 mentation studies in ICF syndrome: analysis (O) 589
Robinson W —> Gillessen-Kaesbach G DNA hypomethylation of repetitive Steenbergen-Spanjers GCH Luyten
Robledo M Benitez J and single copy loci and evidence for a JAFM
Robson L —> Jauch A trans acting factor (O) 562 Steinberger D, Mulliken JB, Muller U:
Rodier M —» Desgeorges M Schulte H —» Nofer J-R Predisposition for cysteine substitutions
R0dningen OK —» Leren TP Schwankhaus J Poduslo SE in the immunoglobulin-like chain of
Romano V —> Kozak L Schwelberger H —> Steinhuber S FGFR2 in Crouzon syndrome (SC)
Romeo G —* Hofstra RMW Scrimgeour EM. Samman Y, Brock DJH: 113
Ropers HH —> Brunner HG Huntington's disease in a Sudanese Steinhuber S, Brack M, Hunsmann G,
Rosenberg T —> Eiberg H family from Khartoum (CC) 624 Schwelberger H, Dierich MP,
Ross CA —> Margolis RL Sebastio G —> Mari A Vogetseder W: Distribution of human
Roth MP —> Malfroy L See CG —* Yulug IG endogenous retrovirus HERV-K
Rouleau GA —> Demczuk S Seia M Brancolini V genomes in humans and different
Rousseaux S, Chevret E. Monteil M, Sele B —> Rousseaux S primates (O) 188
Cozzi J, Pelletier R. E)elafontaine D, Sensabaugh GF —> Calandro LM Steinlein O: Detection of a Cfol poly¬
Sele B: Sperm nuclei analysis of a Serova O Montagna M morphism within exon 5 of the human
Robertsonian t(14q21q) carrier, by Serra G —> Regis S neuronal nicotinic acetylcholine receptor
FISH, using three plasmids and two Serville F ^ Ma HW a4 subunit gene (CHRNA4) (DV) 130
YAC probes (O) 655 Shaheen N —> Kobayashi K Stelwagen T —> Hofstra RMW
Roussey M —> Ferec C Shapira SK —> Uchino T Steyrer E, Haubenwallner S, Horl G,
Rovamo L —> Kainulainen K Shen C-C ^ Tuck-Muller CM GieUauf W, Kostner GM, Zechner R:
Roy M —> Sass C Shin YS —> Gathof BS A single G to A nucleotide transition in
Roy N —) Yaraghi Z Shoshani T —> Kerem E exon IV of the lecithin: cholesterol
Rubio V —> Garci'a-Perez MA Signoretti F Lucarini N acyltransferase (LCAT) gene results in
Russell MB, Iselius L. Olesen J: Sing CF —» Fomage M an Arg'*”’ to His substitution and causes
Inheritance of migraine investigated Skinner M —> Almeida MR LCAT-deficiency (SC) 105
by complex segregation analysis (O) Slunga-Tallberg A, El-Rifai W, Stolte-Dijkstra I —> Verschuuren-
726 Keinanen M, Ylinen K, Kurki T, Bemelmans CC
Russo S —> Brancolini V Klinger K, Ylikorkala O, Knuutila S: Stuhrmann M —> Abd El-Aleem A
Ruttledge MH Phelan CM Maternal origin of nucleated erythro¬ Stumm M —> Schuffenhauer S
cytes in peripheral venous blood of Sugamura K —> Minegishi Y
Sabbagh N Broly F pregnant women (O) 53 Sulekova Z, Ballhausen WG: A novel
Saheki T Kobayashi K Smahi A Heuertz S coding exon of the human adenomatous
Sakaki Y —> Almeida MR Smit LME —> Uchino T polyposis coli gene (SC) 469
Sakiyama Y Ariga T Smit NH —> Verschuuren-Bemelmans CC Sumner AT —» Brown DC
Sala N —> Soria JM Smith A —» Jauch A Surh L Yaraghi Z
Salmela P —> Kytola S Smith CM, Wells SA, Gerhard DS: Sveger T —> Ekstrom U
Salo A —» Laan M Mapping eight new polymorphisms Svensson A —> Zedenius J
Salvi F —> Almeida MR in 1 Iq 13 in the vicinity of multiple Swallow DM —> Pigny P
Salviati A —> Gomez-Lira M endocrine neoplasia type 1: identifica¬ Swan H Kainulainen K
Samman Y —> Scrimgeour EM tion of a new distal recombinant (R) Sylla BS —» Montagna M
Sandkuijl LA —> May A 377 Syvanen A-C —* Laan M
Sangalli A —» Gomez-Lira M Smith SA —> Dominguez AM Szeinberg A —> Kerem E
Sanjurjo P —> Garci'a-Perez MA Snyderman SE —> Uchino T
Sansaricq C —> Uchino T Sodetz JM —> Zhang L Takada F —> Ikegawa S
Saraiva MJ —> Almeida MR Solans A Barrientos A Takagi S —> Minegishi Y
Sasaki H —> Daimon M Solberg K —> Leren TP Takahashi Y —> Akita H
Sass C, Giroux L-M, Ma Y, Roy M, Solyom J Tar A Takazumi K —> Mori Y
Lavigne J, Lussier-Cacan S, Davignon J, Sommer M —> Gathof BS Tal A —» Kerem E
Minnich A: Evidence for a cholesterol¬ Soria JM, Morell M, Estivill X, Sala N: Tar A, Solyom J, Gyorvari B, Ion A,
lowering gene in a French-Canadian A novel polymorphism (6376 G/T) in Telvi L, Barbaux S, Souleyreau N,
kindred with familial hyjjercholes- intron 7 of the human protein C gene Vilain E, Fellous M, McElreavey K:
terolemia (O) 21 (DV) 243 Testicular development in an SRY-
Sauer U —> Demczuk S Soriani N Barbieri AM negative 46,XX individual harboring a
Scheffer H —> Steege G van der Souchier C —> Kottler ML distal Xp deletion (O) 464
Scheffer H —* Verschuuren-Bemelmans CC Souleyreau N Tar A Tavora 1 —> Almeida S de
Schleiermacher E —» Miiller-Navia J Speer A Huschenbett J Tedeschi B —> Caporossi D
Schmidtke J —> Abd El-Aleem A Speevak MD —» Rajcan-Separovic E Telhada M, Carvalho C, Carmo-Fonseca M,
Schneider PM —> Hohler T Spinner NB —> Pellegrino JE Parreira L: Influence of transcription
Schneider PM Zhang L Springer C —» Kerem E and replication on the in situ resolution
Schnur RE —> Pellegrino JE Spurr NK —> Gilmore AP of immunoglobulin heavy-chain con¬
Schott C —> Becker K-F Stark M, Assum G, Krone W: Single-cell stant region genes: an interphase cyto¬
Schoute F Lieburg AF van PCR performed with neurofibroma genetics analysis (O) 552
Schreiber WE, Fong F, Nassar BA, Schwann cells reveals the presence of Telvi L Tar A
Jamani A: Heteroduplex analysis both alleles of the neurofibromatosis Temtamy S —> Abd El-Aleem A
detects frameshift and point mutations type 1 (NFl) gene (SC) 619 Terai C —> Hakoda M
in patients with acute intermittent Steege G van der, Cobben J-M, Osinga J, Terazono H —> Kobayashi K
porphyria (O) 161 Scheffer H. Ommen G-JB van. Buys Termine JD —> Geerkens C
Schuffenhauer S, Bartsch O, Stumm M, CHCM: A sublocus of the multicopy Terwindt GM May A
Buchholz T, Petropoulou T, Kraft S, microsatellite marker CMSl maps Thakker RV —> Trump D
Belohradsky B, Hinkel GK, Meitinger T, proximal to spinal muscular atrophy Theart L Peeters AV
X
Thesleff I Nieminen P Verdijk MAJ —> Lieburg AF van Wohrle D —> Geerkens C
Thomas G —* Bijlsma EK Verlingue C —» Ferec C Wooding C —» Trump D
Thomas G —> Demczuk S Vemole P —> Caporossi D
Thomas G —> Pereira E Verschuuren-Bemelmans CC, Brunt ERP, Yahav Y —> Kerem E
Thompson J —» Lench NJ Burton M, Mensink RGJ, Meulen MA Yamada K —> Muramatsu T
Tinschert S —> Robinson PN van der, Smit NH, Stolte-Dijkstra I, Yamanaka H —> Hakoda M
Toivonen L Kainulainen K Buys CHCM, Scheffer H; Refinement Yamatani K —> Daimon M
Tominaga M Daimon M by linkage analysis in two large families Yan H —> Muramatsu T
Tonstad S —> Leren TP of the candidate region of the third Yang-Feng TL —> Lin C-L
Tops CMJ —> Luijt RB van der locus (SCA3) for autosomal dominant Yaraghi Z, McLean MD, Roy N, Surh L,
Traeger-Synodinos J —> Kanavakis E cerebellar ataxia type I (O) 691 Ikeda J-E, Korneluk RG, MacKenzie A:
Trautmann U —> Fahsold R VerweiJ CL Brinkman BMN A recombination event occurring within
Trijbels FJM —> Kluijtmans LAJ Vetter U Geerkens C two complex 5ql3.1 microsatellite
Tripodis N Florentin L Viitasalo M —> Kainulainen K repteat fxjlymorphisms suggests a
Trivier E Dumur V Vilageliu L —> Bayes M telomeric mapping of spinal muscular
Trump D, Whyte MP, Wooding C, Vilain E —> Tar A atrophy (SC) 330
Pang JT, Pearce SHS, Kocher DB, Vilela C Millan JM Yata J -4 Minegishi Y
Thakker RV; Linkage studies in a Viratelle C —> Malfroy L Ylikorkala O —> Slunga-Tallberg A
kindred from Oklahoma, with familial Vogel W —> Geerkens C Ylinen K —> Slunga-Tallberg A
benign (hypocalciuric) hypercalcaemia Vogetseder W Steinhuber S Young MF Geerkens C
(FBH) and developmental elevations Voit T —> Azofeifa J Yulug IG, Egan SE, See CG, Fisher EMC:
in serum parathyroid hormone levels, A human SHC-related sequence maps
indicate a third locus for FBH (O) 183 Wadelius C —> Graff C to chromosome 17, the SHC gene maps
Tsuchida M —> Minegishi Y Wahlstrom J —> Tulinius MH to chromosome 1 (DV) 245
Tsuji M Akita H Wajcman H, Girodon E, Prome D,
Tubiello GM —» Barbieri AM North ML, Plassa F, Duwig I, Kister J, Zackai EH Pellegrino JE
Tuck-Muller CM, Chen H, Martinez JE, Bergerat JP, Oberling F, Lamport E, Zang KD —> Ermis A
Shen C-C, Li S, Kusyk C, Batista DAS, Lonsdorfer J, Goossens M, Galacteros Zanlonghi X —> Dumur V
Bhatnagar YM, Dowling E, Wertelecki F: Germline mosaicism for an alanine Zatterale A —> Emerit I
W; Isodicentric Y chromosome: cyto¬ to valine substitution at residue P 140 Zechner R —> Steyrer E
genetic, molecular and clinical studies in hemoglobin Puttelange, a new variant Zedenius J, Wallin G, Svensson A,
and review of the literature (CC) 119 with high oxygen affinity (O) 711 Grimelius L, Hodg A, Lundell G,
Tulinius MH, Houshmand M, Larsson Wakasa K Rajcan-Separovic E Biickdahl M, Larsson C: Allelotyping
N-G, Holme E, Oldfors A, Holmberg E, Waldhauser F —> Lieburg AF van of follicular thyroid tumors (O) 27
Wahlstrom J: De novo mutation in the Wallin G —> Zedenius J Zhang A —> Lin MS
mitochondrial ATP synthase subunit 6 Waltz S —» Doose H Zhang L, Rittner C, Sodetz JM,
gene (T8993G) with rapid segregation Wang H-S —> Rajcan-Separovic E Schneider PM, Kaufmann T: The eighth
resulting in Leigh syndrome in the off¬ Wang Z-C —> Muramatsu T component of human complement:
spring (O) 290 Warburg M —> Eiberg H molecular basis of C8A (C81) poly¬
Turbon D —> Ramos MD Ward DC Krishnan SN morphism (O) 281
Turner ST —> Fomage M Wamich L —> Groenewald IM Zhang Z, Lindstedt M, Blomback M,
Tzetis M —> Kanavakis E Webb S Pyper W Anvret M: Effects of the mutant von
Wegner R-D —> Schuffenhauer S Willebrand factor gene in von Wille-
Uchino T, Snyderman SE, Lambert M, Wehner M, Kilimann MW: Human brand disease (O) 388
Qureshi lA, Shapira SK, Sansaricq C, cDNA encoding the muscle isoform of Zhou J, Neidigh JL, Espinosa III R,
Smit LME, Jakobs C, Matsuda I: the phosphorylase kinase y subunit LeBeau MM, McClain DA: Human
Molecular basis of phenotypic variation (PHKG1)(SC) 616 glutamine: fructose-6-phosphate amido-
in patients with argininemia (R) 255 Weissenbach J ^ Ma HW transferase: characterization of mRNA
Ulf D ^ Almeida MR Wells SA ^ Smith CM and chromosomal assignment to 2pl3
Urbak SF Graff C Weng W ^ Nofer J-R (SC) 99
Urban C —> May A Wenink PW —> Luyten JAFM Zwarthoff EC —> Mulder MP
Urbano-Marquez A —> Barrientos A Wertelecki W —> Tuck-Muller CM
Westerveld A —» Bijlsma EK
Valenzuela CY, Bravo ML, Alarcon JC: Wevers RA —» Luyten JAFM Announcements 628
Rh — plasma iron binding capacity Whyte MP —» Trump D
association. New evidence (SC) 219 Wiebusch H Nofer J-R Errata 254, 502, 744
Valverde D —> Bayes M Wilke M ^ Mulder MP
Van Gaal LF —> Peeters AV Wilkie AOM —> Heuertz S
Vasen HFA —> Luijt RB van der Wilming LG —> Mulder MP
Veen AY van der —> Hofstra RMW Winqvist R —> Kytola S Indexed in Current Contents