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The American Journal of Human Genetics 2007: Vol 81 Index & Table of Contents PDF

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Preview The American Journal of Human Genetics 2007: Vol 81 Index & Table of Contents

Contents of Volume 81 July 2007 This Month in the journal Robin E. Williamson ARTICLES Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H Valérie Delague, Arnaud Jacquier, Tarik Hamadouche, Yannick Poitelon, Cécile Baudot, Irene Boccaccio, Eliane Chouery, Malika Chaouch, Nora Kassouri, Rosette Jabbour, Djamel Grid, André Mégarbane, Georg Haase, and Nicolas Lévy A Genomewide Screen for Late-Onset Alzheimer Disease in a Genetically Isolated Dutch Population Fan Liu, Alejandro Arias-Vasquez, Kristel Sleegers, Yurii S$. Aulchenko, Manfred Kayser, Pascual Sanchez-Juan, Bing-Jian Feng, Aida M. Bertoli-Avella, John van Swieten, Tatiana I. Axenovich, Peter Heutink, Christine van Broeckhoven, Ben A. Oostra, and Cornelia M. van Duijn Conversion and Compensatory Evolution of the y-Crystallin Genes and Identification of a Cataractogenic Mutation That Reverses the Sequence of the Human CRYGD Gene to an Ancestral State Olga V. Plotnikova, Fyodor A. Kondrashov, Peter K. Vlasov, Anastasia P. Grigorenko, Evgeny K. Ginter, and Evgeny I. Rogaev Evidence of Amino Acid Diversity-Enhancing Selection within Humans and among Primates at the Candidate Sperm-Receptor Gene PKDREJ David Hamm, Brian S$. Mautz, Mariana F. Wolfner, Charles F. Aquadro, and Willie J. Swanson identification of Risk-Related Haplotypes with the Use of Multiple SNPs from Nuclear Families Min Shi, David M. Umbach, and Clarice R. Weinberg The Nuclear Factor xB-Activator Gene PLEKHGS |s Mutated in a Form of Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset Isabelle Maystadt, René RezsOhazy, Martine Barkats, Sandra Duque, Pascal Vannuffel, Sophie Remacle, Barbara Lambert, Mustapha Najimi, Etienne Sokal, Arnold Munnich, Louis Viollet, and Christine Verellen-Dumoulin Cellular and Clinical Impact of Haploinsufficiency for Genes Involved in ATR Signaling Mark O'Driscoll, William B. Dobyns, Johanna M. van Hagen, and Penny A. Jeggo A New Genetic Disorder in Mitochondrial Fatty Acid 8-Oxidation: ACAD9 Deficiency M. He, S. L. Rutledge, D. R. Kelly, C. A. Palmer, G. Murdoch, N. Majumder, R. D. Nicholls, Z. Pei, P. A. Watkins, and J. Vockley CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome-Related Disorders Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy, Sarah E. Marsh, Lorena Travaglini, Stephanie L. Bielas, Maria Amorini, Dominika Zablocka, Hulya Kayserili, Lihadh Al-Gazali, Enrico Bertini, Eugen Boltshauser, Marc D’Hooghe, Elisa Fazzi, Elif Y. Fenerci, Raoul C. M. Hennekam, Andrea Kiss, Melissa M. Lees, Elysa Marco, Shubha R. Phadke, Luciana Rigoli, Stephane Romano, Carmelo D. Salpietro, Elliott H. Sherr, Sabrina Signorini, Petter Stromme, Bernard Stuart, Laszlo Sztriha, David H. Viskochil, Adnan Yuksel, Bruno Dallapiccola, The International JSRD Study Group, Enza Maria Valente, and Joseph G. Gleeson Highly Sensitive Method for Genomewide Detection of Allelic Composition in Nonpaired, Primary Tumor Specimens by Use of Affymetrix Single-Nucleotide—-Polymorphism Genotyping Microarrays Go Yamamoto, Yasuhito Nannya, Motohiro Kato, Masashi Sanada, Ross L. Levine, Norihiko Kawamata, Akira Hangaishi, Mineo Kurokawa, Shigeru Chiba, D. Gary Gilliland, H. Phillip Koeffler, and Seishi Ogawa The American Journal of Human Genetics Volume 81 July 2007 www.ajhg.org Contents of Volume 81 July 2007 This Month in the journal Robin E. Williamson ARTICLES Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H Valérie Delague, Arnaud Jacquier, Tarik Hamadouche, Yannick Poitelon, Cécile Baudot, Irene Boccaccio, Eliane Chouery, Malika Chaouch, Nora Kassouri, Rosette Jabbour, Djamel Grid, André Mégarbane, Georg Haase, and Nicolas Lévy A Genomewide Screen for Late-Onset Alzheimer Disease in a Genetically Isolated Dutch Population Fan Liu, Alejandro Arias-Vasquez, Kristel Sleegers, Yurii S$. Aulchenko, Manfred Kayser, Pascual Sanchez-Juan, Bing-Jian Feng, Aida M. Bertoli-Avella, John van Swieten, Tatiana I. Axenovich, Peter Heutink, Christine van Broeckhoven, Ben A. Oostra, and Cornelia M. van Duijn Conversion and Compensatory Evolution of the y-Crystallin Genes and Identification of a Cataractogenic Mutation That Reverses the Sequence of the Human CRYGD Gene to an Ancestral State Olga V. Plotnikova, Fyodor A. Kondrashov, Peter K. Vlasov, Anastasia P. Grigorenko, Evgeny K. Ginter, and Evgeny I. Rogaev Evidence of Amino Acid Diversity-Enhancing Selection within Humans and among Primates at the Candidate Sperm-Receptor Gene PKDREJ David Hamm, Brian S$. Mautz, Mariana F. Wolfner, Charles F. Aquadro, and Willie J. Swanson identification of Risk-Related Haplotypes with the Use of Multiple SNPs from Nuclear Families Min Shi, David M. Umbach, and Clarice R. Weinberg The Nuclear Factor xB-Activator Gene PLEKHGS |s Mutated in a Form of Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset Isabelle Maystadt, René RezsOhazy, Martine Barkats, Sandra Duque, Pascal Vannuffel, Sophie Remacle, Barbara Lambert, Mustapha Najimi, Etienne Sokal, Arnold Munnich, Louis Viollet, and Christine Verellen-Dumoulin Cellular and Clinical Impact of Haploinsufficiency for Genes Involved in ATR Signaling Mark O'Driscoll, William B. Dobyns, Johanna M. van Hagen, and Penny A. Jeggo A New Genetic Disorder in Mitochondrial Fatty Acid 8-Oxidation: ACAD9 Deficiency M. He, S. L. Rutledge, D. R. Kelly, C. A. Palmer, G. Murdoch, N. Majumder, R. D. Nicholls, Z. Pei, P. A. Watkins, and J. Vockley CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome-Related Disorders Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy, Sarah E. Marsh, Lorena Travaglini, Stephanie L. Bielas, Maria Amorini, Dominika Zablocka, Hulya Kayserili, Lihadh Al-Gazali, Enrico Bertini, Eugen Boltshauser, Marc D’Hooghe, Elisa Fazzi, Elif Y. Fenerci, Raoul C. M. Hennekam, Andrea Kiss, Melissa M. Lees, Elysa Marco, Shubha R. Phadke, Luciana Rigoli, Stephane Romano, Carmelo D. Salpietro, Elliott H. Sherr, Sabrina Signorini, Petter Stromme, Bernard Stuart, Laszlo Sztriha, David H. Viskochil, Adnan Yuksel, Bruno Dallapiccola, The International JSRD Study Group, Enza Maria Valente, and Joseph G. Gleeson Highly Sensitive Method for Genomewide Detection of Allelic Composition in Nonpaired, Primary Tumor Specimens by Use of Affymetrix Single-Nucleotide—-Polymorphism Genotyping Microarrays Go Yamamoto, Yasuhito Nannya, Motohiro Kato, Masashi Sanada, Ross L. Levine, Norihiko Kawamata, Akira Hangaishi, Mineo Kurokawa, Shigeru Chiba, D. Gary Gilliland, H. Phillip Koeffler, and Seishi Ogawa The American Journal of Human Genetics Volume 81 July 2007 www.ajhg.org RNA Interference—Mediated Suppression and Replacement of Human Rhodopsin In Vivo Mary O’Reilly, Arpad Palfi, Naomi Chadderton, Sophia Millington-Ward, Marius Ader, Thérése Cronin, Thérese Tuohy, Alberto Auricchio, Markus Hildinger, Amanda Tivnan, Niamh McNally, Marian M. Humphries, Anna-Sophia Kiang, Pete Humphries, Paul F. Kenna, and G. Jane Farrar The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter Eija Siintola, Meral Topcu, Nina Aula, Hannes Lohi, Berge A. Minassian, Andrew D. Paterson, Xiao-Qing Liu, Callum Wilson, Ulla Lahtinen, Anna-Kaisa Anttonen, and Anna-Elina Lehesjoki REPORTS Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa Frauke Coppieters, Bart P. Leroy, Diane Beysen, Jan Hellemans, Karolien De Bosscher, Guy Haegeman, Kirsten Robberecht, Wim Wuyts, Paul J. Coucke, and Elfride De Baere Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4 Claudia Stendel, Andreas Roos, Tine Deconinck, Jorge Pereira, Francois Castagner, Axel Niemann, Janbernd Kirschner, Rudolf Korinthenberg, Uwe-Peter Ketelsen, Esra Battaloglu, Yesim Parman, Garth Nicholson, Robert Ouvrier, Jiirgen Seeger, Peter De Jonghe, Joachim Weis, Alexander Kriittgen, Sabine Rudnik-Sché6neborn, Carsten Bergmann, Ueli Suter, Klaus Zerres, Vincent Timmerman, Jodo B. Relvas, and Jan Senderek Correlation of Intergenerational Family Sizes Suggests a Genetic Component of Reproductive Fitness Anna Pluzhnikov, Daniel K. Nolan, Zhigiang Tan, Mary Sara McPeek, and Carole Ober Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome Lekbir Baala, Sophie Audollent, Jéléna Martinovic, Catherine Ozilou, Marie-Claude Babron, Sivanthiny Sivanandamoorthy, Sophie Saunier, Rémi Salomon, Marie Gonzales, Eleanor Rattenberry, Chantal Esculpavit, Annick Toutain, Claude Moraine, Philippe Parent, Pascale Marcorelles, Marie-Christine Dauge, Joélle Roume, Martine Le Merrer, Vardiella Meiner, Karen Meir, Francoise Menez, Anne-Marie Beaufrére, Christine Francannet, Julia Tantau, Martine Sinico, Yves Dumez, Fiona MacDonald, Arnold Munnich, Stanislas Lyonnet, Marie-Claire Gubler, Emmanuelle Génin, Colin A. Johnson, Michel Vekemans, Férechté Encha-Razavi, and Tania Attié-Bitach Autosomal Dominant Nonsyndromic Cleft Lip and Palate: Significant Evidence of Linkage at 18q21.1 Soraya Beiraghi, Swapan K. Nath, Matthew Gaines, Desh D. Mandhyan, David Hutchings, Uppala Ratnamala, Ken McElreavey, Lucia Bartoloni, Gregory S. Antonarakis, Stylianos E. Antonarakis, and Uppala Radhakrishna Normal Levels of Wild-Type Mitochondrial DNA Maintain Cytochrome c Oxidase Activity for Two Pathogenic Mitochondrial DNA Mutations but Not for m.3243A~G Steve E. Durham, David C. Samuels, Lynsey M. Cree, and Patrick F. Chinnery ERRATA A Novel 5TX16 Deletion in Autosomal Dominant Pseudohypoparathyroidism Type Ib Redefines the Boundaries of a cis-Acting Imprinting Control Element of GNAS Linglart et al. (May 2005 76:804-814) Hypomorphic Mutations in the Gene Encoding a Key Fanconi Anemia Protein, FANCD2, Sustain a Significant Group of FA-D2 Patients with Severe Phenotype Kalb et al. (May 2007 80:895-910) SOCIETY NEWS ASHG Continues Its Support of DNA Day Kenna Shaw ANNOUNCEMENTS Employment Opportunity; Conference; Calls for Patients www.ajhg.org The American journal of Human Genetics Volume 81 july 2007 August 2007 This Month in the Journal Robin E. Williamson PERSPECTIVES IN HUMAN GENETICS New Perspectives for the Elucidation of Genetic Disorders Hans-Hilger Ropers ARTICLES A Bayesian Measure of the Probability of False Discovery in Genetic Epidemiology Studies Jon Wakefield Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA—Haplogroup Background Gavin Hudson, Valerio Carelli, Liesbeth Spruijt, Mike Gerards, Catherine Mowbray, Alessandro Achilli, Angela Pyle, Joanna Elson, Neil Howell, Chiara La Morgia, Maria Lucia Valentino, Kirsi Huoponen, Marja-Liisa Savontaus, Eeva Nikoskelainen, Alfredo A. Sadun, Solange R. Salomao, Rubens Belfort Jr., Philip Griffiths, Patrick Yu Wai Man, Rene F. M. de Coo, Rita Horvath, Massimo Zeviani, Hubert J. T. Smeets, Antonio Torroni, and Patrick F. Chinnery Combining Evidence of Natural Selection with Association Analysis Increases Power to Detect Malaria-Resistance Variants George Ayodo, Alkes L. Price, Alon Keinan, Arthur Ajwang, Michael F. Otieno, Alloys S. S. Orago, Nick Patterson, and David Reich Molecular Dissection of Isolated Disease Features in Mosaic Neurofibromatosis Type 1 Ophélia Maertens, Sofie De Schepper, Jo Vandesompele, Hilde Brems, Ine Heyns, Sandra Janssens, Frank Speleman, Eric Legius, and Ludwine Messiaen Natural Gene-Expression Variation in Down Syndrome Modulates the Outcome of Gene-Dosage Imbalance Paola Prandini, Samuel Deutsch, Robert Lyle, Maryline Gagnebin, Celine Delucinge Vivier, Mauro Delorenzi, Corinne Gehrig, Patrick Descombes, Stephanie Sherman, Franca Dagna Bricarelli, Chiara Baldo, Antonio Novelli, Bruno Dallapiccola, and Stylianos E. Antonarakis Evolutionary Conservation of a Coding Function for D4Z4, the Tandem DNA Repeat Mutated in Facioscapulohumeral Muscular Dystrophy Jannine Clapp, Laura M. Mitchell, Daniel J. Bolland, Judy Fantes, Anne E. Corcoran, Paul J. Scotting, John A. L. Armour, and Jane E. Hewitt Mutations in Cardiac T-Box Factor Gene TBX20 Are Associated with Diverse Cardiac Pathologies, Including Defects of Septation and Valvulogenesis and Cardiomyopathy Edwin P. Kirk, Margaret Sunde, Mauro W. Costa, Scott A. Rankin, Orit Wolstein, M. Leticia Castro, Tanya L. Butler, Changbaig Hyun, Guanglan Guo, Robyn Otway, Joel P. Mackay, Leigh B. Waddell, Andrew D. Cole, Christopher Hayward, Anne Keogh, Peter Macdonald, Lyn Griffiths, Diane Fatkin, Gary F. Sholler, Aaron M. Zorn, Michael P. Feneley, David S$. Winlaw, and Richard P. Harvey Mapping of Deletion and Translocation Breakpoints in 1q44 implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum Elena Boland, Jill Clayton-Smith, Victoria G. Woo, Shane McKee, Forbes D. C. Manson, Livija Medne, Elaine Zackai, Eric A. Swanson, David Fitzpatrick, Kathleen J. Millen, Elliott H. Sherr, William B. Dobyns, and Graeme C. M. Black Bayesian Mapping of Quantitative Trait Loci for Multiple Complex Traits with the Use of Variance Components Jianfeng Liu, Yongjun Liu, Xiaogang Liu, and Hong-Wen Deng The American Journal of Human Genetics Volume 81 August 2007 www.ajhg.org Case-Control Association Testing with Related Individuals: A More Powerful Quasi-Likelihood Score Test Timothy Thornton and Mary Sara McPeek Type 2 Diabetes Whole-Genome Association Study in Four Populations: The DiaGen Consortium Jukka T. Salonen, Pekka Uimari, Juha-Matti Aalto, Mia Pirskanen, Jari Kaikkonen, Boryana Todorova, Jelena Hypp6nen, Veli-Pekka Korhonen, Janne Asikainen, Christopher Devine, Tomi-Pekka Tuomainen, Jan Luedemann, Matthias Nauck, Wolfgang Kerner, Richard H. Stephens, John P. New, William E. Ollier, J. Martin Gibson, Antony Payton, Michael A. Horan, Neil Pendleton, Walt Mahoney, David Meyre, Jerome Delplanque, Philippe Froguel, Oren Luzzatto, Benjamin Yakir, and Ariel Darvasi Sequence-Based Prioritization of Nonsynonymous Single-Nucleotide Polymorphisms for the Study of Disease Mutations Rui Jiang, Hua Yang, Lingi Zhou, C.-C. Jay Kuo, Fengzhu Sun, and Ting Chen REPORTS A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome) Mitsuhiro Kato, Shinji Saitoh, Atsushi Kamei, Hideaki Shiraishi, Yuki Ueda, Manami Akasaka, Jun Tohyama, Noriyuki Akasaka, and Kiyoshi Hayasaka Mutations in the BRWD3 Gene Cause X-Linked Mental Retardation Associated with Macrocephaly Michael Field, Patrick S$. Tarpey, Raffaella Smith, Sarah Edkins, Sarah O’Meara, Claire Stevens, Calli Tofts, Jon Teague, Adam Butler, Ed Dicks, Syd Barthorpe, Gemma Buck, Jennifer Cole, Kristian Gray, Kelly Halliday, Katy Hills, Andrew Jenkinson, David Jones, Andrew Menzies, Tatiana Mironenko, Janet Perry, Keiran Raine, David Richardson, Rebecca Shepherd, Alexandra Small, Jennifer Varian, Sofie West, Sara Widaa, Uma Mallya, Richard Wooster, Jenny Moon, Ying Luo, Helen Hughes, Marie Shaw, Kathryn L. Friend, Mark Corbett, Gillian Turner, Michael Partington, John Mulley, Martin Bobrow, Charles Schwartz, Roger Stevenson, Jozef Gecz, Michael R. Stratton, P. Andrew Futreal, and F. Lucy Raymond Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional Effects Sian Ellard, Sarah E. Flanagan, Christophe A. Girard, Ann-Marie Patch, Lorna W. Harries, Andrew Parrish, Emma L. Edghill, Deborah J. G. Mackay, Peter Proks, Kenju Shimomura, Holger Haberland, Dennis J. Carson, Julian P. H. Shield, Andrew T. Hattersley, and Frances M. Ashcroft Deficiency of the a Subunit of Succinate-Coenzyme A Ligase Causes Fatal Infantile Lactic Acidosis with Mitochondrial DNA Depletion Elsebet Ostergaard, Ernst Christensen, Elisabeth Kristensen, Bodil Mogensen, Morten Duno, Eric A. Shoubridge, and Flemming Wibrand A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN K. Lehmann, P. Seemann, F. Silan, T. O. Goecke, S. Irgang, K. W. Kjaer, S. Kjaergaard, M. J. Mahoney, S. Morlot, C. Reissner, B. Kerr, A. O. M. Wilkie, and S$. Mundlos Enriching the Analysis of Genomewide Association Studies with Hierarchical Modeling Gary K. Chen and John S. Witte Human microRNA-155 on Chromosome 21 Differentially Interacts with Its Polymorphic Target in the AGTRI 3’ Untranslated Region: A Mechanism for Functional Single-Nucleotide Polymorphisms Related to Phenotypes Praveen Sethupathy, Christelle Borel, Maryline Gagnebin, Gregory R. Grant, Samuel Deutsch, Terry S. Elton, Artemis G. Hatzigeorgiou, and Stylianos E. Antonarakis LETTERS TO THE EDITOR Copy-Number Variations and Human Disease Robert A. Hegele www.ajhg.org The American journal of Human Genetics Volume 81 August 2007 Reply to Dr. Robert A. Hegele Kendy K. Wong, Ronald J. deLeeuw, Carolyn J. Brown, and Wan L. Lam The TAF1/DYT3 Multiple Transcript System in X-Linked Dystonia-Parkinsonism Ulrich Miiller, Thilo Herzfeld, and Dagmar Nolte TAF1 as the Most Plausible Disease Gene for XDP/DYT3 Gen Tamiya, Satoshi Makino, and Ryuji Kaji Numbers of Copy-Number Variations and False-Negative Rates Will Be Underestimated If We Do Not Account for the Dependence between Repeated Experiments Andy G. Lynch, John C. Marioni, and Simon Tavareé Reply to Lynch et al. Ronald J. deLeeuw, Kendy K. Wong, Raymond T. Ng, and Wan L. Lam SOCIETY NEWS Looking Back; Moving Forward Joann Boughman, Ph.D. ANNOUNCEMENTS Employment Opportunities; Symposium; Meeting; Fellowship September 2007 This Month in the Journal Robin E. Williamson ARTICLES Identification of Genetic Variants Contributing to Cisplatin-induced Cytotoxicity by Use of a Genomewide Approach R. Stephanie Huang, Shiwei Duan, Sunita J. Shukla, Emily O. Kistner, Tyson A. Clark, Tina X. Chen, Anthony C. Schweitzer, John E. Blume, and M. Eileen Dolan Oral Curcumin Mitigates the Clinical and Neuropathologic Phenotype of the Trembler-/ Mouse: A Potential Therapy for Inherited Neuropathy Mehrdad Khajavi, Kensuke Shiga, Wojciech Wiszniewski, Feng He, Chad A. Shaw, Jiong Yan, Theodore G. Wensel, G. Jackson Snipes, and James R. Lupski Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN7 Mutations: An International Study L. Faivre, G. Collod-Beroud, B. L. Loeys, A. Child, C. Binquet, E. Gautier, B. Callewaert, E. Arbustini, K. Mayer, M. Arslan-Kirchner, A. Kiotsekoglou, P. Comeglio, N. Marziliano, H. C. Dietz, D. Halliday, C. Beroud, C. Bonithon-Kopp, M. Claustres, C. Muti, H. Plauchu, P. N. Robinson, L. C. Adés, A. Biggin, B. Benetts, M. Brett, K. J. Holman, J. De Backer, P. Coucke, U. Francke, A. De Paepe, G. Jondeau, and C. Boileau Physical Exercise-Induced Hypoglycemia Caused by Failed Silencing of Monocarboxylate Transporter 1 in Pancreatic 6 Cells Timo Otonkoski, Hong Jiao, Nina Kaminen-Ahola, Isabel Tapia-Paez, Mohammed S$. Ullah, Laura E. Parton, Frans Schuit, Roel Quintens, Ilkka Sipila, Ertan Mayatepek, Thomas Meissner, Andrew P. Halestrap, Guy A. Rutter, and Juha Kere The American Journal of Human Genetics Volume 81 September 2007 www.ajhg.org Classification of Human Chromosome 21 Gene-Expression Variations in Down Syndrome: Impact on Disease Phenotypes E. Ait Yahya-Graison, J. Aubert, L. Dauphinot, I. Rivals, M. Prieur, G. Golfier, J. Rossier, L. Personnaz, N. Créau, H. Bléhaut, S. Robin, J. M. Delabar, and M.-C. Potier DLXS and DLX6 Expression Is Biallelic and Not Modulated by MeCP2 Deficiency Birgitt Schtile, Hong Hua Li, Claudia Fisch-Kohl, Carolin Purmann, and Uta Francke Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1 Arjan P. M. de Brouwer, Kelly L. Williams, John A. Duley, André B. P. van Kuilenburg, Sander B. Nabuurs, Michael Egmont-Petersen, Dorien Lugtenberg, Lida Zoetekouw, Martijn J. G. Banning, Melissa Roeffen, Ben C. J. Hamel, Linda Weaving, Robert A. Ouvrier, Jennifer A. Donald, Ron A. Wevers, John Christodoulou, and Hans van Bokhoven Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia— Anauxetic Dysplasia Spectrum Christian T. Thiel, Geert Mortier, Ilkka Kaitila, André Reis, and Anita Rauch Lethal Contractural Syndrome Type 3 (LCCS3) Is Caused by a Mutation in P/PSK1C, Which Encodes PIPKIy of the Phophatidylinsitol Pathway Ginat Narkis, Rivka Ofir, Daniella Landau, Esther Manor, Micha Volokita, Relly Hershkowitz, Khalil Elbedour, and Ohad S. Birk Flexible Design for Following Up Positive Findings Kai Yu, Nilanjan Chatterjee, William Wheeler, Qizhai Li, Sophia Wang, Nathaniel Rothman, and Sholom Wacholder REPORTS Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTXS5) Hee-Jin Kim, Kwang-Min Sohn, Michael E. Shy, Karen M. Krajewski, Miok Hwang, June-Hee Park, Sue-Yon Jang, Hong-Hee Won, Byung-Ok Choi, Sung Hwa Hong, Byoung-jJoon Kim, Yeon-Lim Suh, Chang-Seok Ki, Soo-Youn Lee, Sun-Hee Kim, and Jong-Won Kim PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses Shaun Purcell, Benjamin Neale, Kathe Todd-Brown, Lori Thomas, Manuel A. R. Ferreira, David Bender, Julian Maller, Pamela Sklar, Paul I. W. de Bakker, Mark J. Daly, and Pak C. Sham NOBOX Homeobox Mutation Causes Premature Ovarian Failure Yingying Qin, Youngsok Choi, Han Zhao, Joe Leigh Simpson, Zi-Jiang Chen, and Aleksandar Rajkovic The Genetics of Congenital Amusia (Tone Deafness): A Family-Aggregation Study Isabelle Peretz, Stephanie Cummings, and Marie-Pierre Dubé Lethal Congenital Contractural Syndrome Type 2 (LCCS2) Is Caused by a Mutation in ERBB3 (Her3), a Modulator of the Phosphatidylinositol-3-Kinase/Akt Pathway Ginat Narkis, Rivka Ofir, Esther Manor, Daniella Landau, Khalil Elbedour, and Ohad S. Birk CHMP4B, a Novel Gene for Autosomal Dominant Cataracts Linked to Chromosome 20q Alan Shiels, Thomas M. Bennett, Harry L. $. Knopf, Koki Yamada, Koh-ichiro Yoshiura, Norio Niikawa, Soomin Shim, and Phyllis 1. Hanson Genomewide Weighted Hypothesis Testing in Family-Based Association Studies, with an Application to a 100K Scan luliana lonita-Laza, Matthew B. McQueen, Nan M. Laird, and Christoph Lange ‘ www.ajhg.org The American journal of Human Genetics Volume 81 September 2007 Evidence of Still-Ongoing Convergence Evolution of the Lactase Persistence T_,,.,. Alleles in Humans Nabil Sabri Enattah, Aimee Trudeau, Ville Pimenoff, Luigi Maiuri, Salvatore Auricchio, Luigi Greco, Mauro Rossi, Michael Lentze, J. K. Seo, Soheila Rahgozar, Insaf Khalil, Michael Alifrangis, Sirajedin Natah, Leif Groop, Nael Shaat, Andrew Kozlov, Galina Verschubskaya, David Comas, Kazima Bulayeva, S$. Qasim Mehdi, Joseph D. Terwilliger, Timo Sahi, Erkki Savilahti, Markus Perola, Antti Sajantila, Irma Jarvela, and Leena Peltonen Recent Genetic Selection in the Ancestral Admixture of Puerto Ricans Hua Tang, Shweta Choudhry, Rui Mei, Martin Morgan, William Rodriguez-Cintron, Esteban Gonzalez Burchard, and Neil J. Risch ERRATA Dent Disease with Mutations in OCRL7 Hoopes et al. (February 2005 76:260-267) Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and Nonsyndromic Enlargement of Vestibular Aqueduct (DFNB4) Yang et al. June 2007 80:1055-1063) SOCIETY NEWS — ASHG Statement on Direct-to-Consumer Genetic Testing in the United States Kathy Hudson, Gail Javitt, Wylie Burke, and Peter Byers, with the ASHG Social Issues Committee ANNOUNCEMENTS Employment Opportunities; Call for Patients; Meeting; Fellowship; Conference October 2007 i This Month in the Journal Robin E. Williamson 2006 Cotterman Award Winners 2006 ASHG PRESIDENTIAL ADDRESS | Our Society and the Scientist-Citizen Stephen T. Warren 2006 WILLIAM ALLAN AWARD ADDRESSES Introductory Speech for Dorothy Warburton Patricia A. Jacobs Having It All Dorothy Warburton 2006 ASHG AWARD FOR EXCELLENCE IN HUMAN GENETICS EDUCATION Introductory Speech for Roberta A. Pagon Kurt Hirschhorn The American Journal of Human Genetics Volume 81 October 2007 www.ajhg.org Genetests: Integrating Genetic Services into Patient Care Roberta A. Pagon 2006 CURT STERN AWARD ADDRESS introductory Speech for Hal Dietz Victor A. McKusick Marfan Syndrome: From Molecules to Medicines Harry C. Dietz 2006 ASHG LEADERSHIP AWARD introductory Speech for David L. Rimoin Michael Kaback A Half Century of Medical Genetics—Where Do We Go from Here? David L. Rimoin ARTICLES A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2 Sami Amr, Cindy Heisey, Min Zhang, Xia-Juan Xia, Kathryn H. Shows, Kamel Ajlouni, Arti Pandya, Leslie S. Satin, Hatem El-Shanti, and Rita Shiang Simultaneous Discovery and Testing of Deletions for Disease Association in SNP Genotyping Studies Jared R. Kohler and David J. Cutler TBX22 Missense Mutations Found in Patients with X-Linked Cleft Palate Affect DNA Binding, Sumoylation, and Transcriptional Repression Artemisia M. Andreou, Erwin Pauws, Marius C. Jones, Manvendra K. Singh, Markus Bussen, Kit Doudney, Gudrun E. Moore, Andreas Kispert, Jan J. Brosens, and Philip Stanier Clinical and Molecular Phenotype of Aicardi-Goutiéres Syndrome Gillian Rice, Teresa Patrick, Rekha Parmar, Claire F. Taylor, Alec Aeby, Jean Aicardi, Rafael Artuch, Simon Attard Montalto, Carlos A. Bacino, Bruno Barroso, Peter Baxter, Willam S. Benko, Carsten Bergmann, Enrico Bertini, Roberta Biancheri, Edward M. Blair, Nenad Blau, David T. Bonthron, Tracy Briggs, Louise A. Brueton, Han G. Brunner, Christopher J. Burke, lan M. Carr, Daniel R. Carvalho, Kate E. Chandler, Hans-Jiirgen Christen, Peter C. Corry, Frances M. Cowan, Helen Cox, Stefano D’Arrigo, John Dean, Corinne De Laet, Claudine De Praeter, Catherine Déry, Colin D. Ferrie, Kim Flintoff, Suzanna G. M. Frints, Angels Garcia-Cazorla, Blanca Gener, Cyril Goizet, Francoise Goutiéres, Andrew J. Green, Agnés Guét, Ben C. J. Hamel, Bruce E. Hayward, Arvid Heiberg, Raoul C. Hennekam, Marie Husson, Andrew P. Jackson, Rasieka Jayatunga, Yong-Hui Jiang, Sarina G. Kant, Amy Kao, Mary D. King, Helen M. Kingston, Joerg Klepper, Marjo S. van der Knaap, Andrew J. Kornberg, Dieter Kotzot, Wilfried Kratzer, Didier Lacombe, Lieven Lagae, Pierre Georges Landrieu, Giovanni Lanzi, Andrea Leitch, Ming J. Lim, John H. Livingston, Charles M. Lourenco, E. G. Hermione Lyall, Sally A. Lynch, Michael J. Lyons, Daphna Marom, John P. McClure, Robert McWilliam, Serge B. Melancon, Leena D. Mewasingh, Marie-Laure Moutard, Ken K. Nischal, John R. Ostergaard, Julie Prendiville, Magnhild Rasmussen, R. Curtis Rogers, Dominique Roland, Elisabeth M. Rosser, Kevin Rostasy, Agathe Roubertie, Amparo Sanchis, Raphael Schiffmann, Sabine Scholl-Biirgi, Sunita Seal, Stavit A. Shalev, C. Sierra Corcoles, Gyan P. Sinha, Doriette Soler, Ronen Spiegel, John B. P. Stephenson, Uta Tacke, Tiong Yang Tan, Marianne Till, John L. Tolmie, Pam Tomlin, Federica Vagnarelli, Enza Maria Valente, Rudy N. A. Van Coster, Nathalie Van der Aa, Adeline Vanderver, Johannes S. H. Vles, Thomas Voit, Evangeline Wassmer, Bernhard Weschke, Margo L. Whiteford, Michel A. A. Willemsen, Andreas Zankl, Sameer M. Zuberi, Simona Orcesi, Elisa Fazzi, Pierre Lebon, and Yanick J. Crow Simultaneously Correcting for Population Stratification and for Genotyping Error in Case-Control Association Studies K. EF. Cheng and W. J. Lin www.ajhg.org The American journal of Human Genetics Volume 81 October 2007 A Chromosome 11q Quantitative-Trait Locus Influences Change of Blood-Pressure Measurements over Time in Mexican Americans of the San Antonio Family Heart Study Sue Rutherford, Guowen Cai, Juan C. Lopez-Alvarenga, Jack W. Kent Jr., V. Saroja Voruganti, J. Michael Proffitt, Joanne E. Curran, Mathew P. Johnson, Thomas D. Dyer, Jeremy B. Jowett, Raul A. Bastarrachea, Larry D. Atwood, Harald H. H. Goring, Jean W. MacCluer, Eric K. Moses, John Blangero, Anthony G. Comuzzie, and Shelley A. Cole Cowden Syndrome-Affected Patients with PTEN Promoter Mutations Demonstrate Abnormal Protein Translation Rosemary E. Teresi, Kevin M. Zbuk, Marcus G. Pezzolesi, Kristin A. Waite, and Charis Eng Copy-Number Variations Measured by Single-Nucleotide-Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation Janine Wagenstaller, Stephanie Spranger, Bettina Lorenz-Depiereux, Bernd Kazmierczak, Michaela Nathrath, Dagmar Wahl, Babett Heye, Dieter Glaser, Volkmar Liebscher, Thomas Meitinger, and Tim M. Strom An LRP8 Variant Is Associated with Familial and Premature Coronary Artery Disease and Myocardial Infarction Gong-Qing Shen, Lin Li, Domenico Girelli, Sara B. Seidelmann, Shaogi Rao, Chun Fan, Jeong Euy Park, Quansheng Xi, Jing Li, Ying Hu, Oliviero Olivieri, Kandice Marchant, John Barnard, Roberto Corrocher, Robert Elston, June Cassano, Susan Henderson, Stanley L. Hazen, Edward F. Plow, Eric J. Topol, and Qing K. Wang REPORTS A Defect in the lonotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation Mohammad Mahdi Motazacker, Benjamin Rainer Rost, Tim Hucho, Masoud Garshasbi, Kimia Kahrizi, Reinhard Ullmann, Seyedeh Sedigheh Abedini, Sahar Esmaeeli Nieh, Saeid Hosseini Amini, Chandan Goswami, Andreas Tzschach, Lars Riff Jensen, Dietmar Schmitz, Hans Hilger Ropers, Hossein Najmabadi, and Andreas Walter Kuss Common Variants in the BMP2, BMP4, and H/V Genes of the Hepcidin Regulation Pathway Modulate HFE Hemochromatosis Penetrance Jacqueline Milet, Valerie Déhais, Catherine Bourgain, Anne Marie Jouanolle, Annick Mosser, Michele Perrin, Jeff Morcet, Pierre Brissot, Véronique David, Yves Deugnier, and Jean Mosser A Bayesian Approach to Copy-Number-Polymorphism Analysis in Nuclear Pedigrees Konstantina Kosta, lan Sabroe, Jonathan G6ke, Robert J. Nibbs, John Tsanakas, Moira K. Whyte, and M. Dawn Teare Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia Anika H. D. M. Dam, Isabelle Koscinski, Jan A. M. Kremer, Celine Moutou, Anne-Sophie Jaeger, Astrid R. Oudakker, Herman Tournaye, Nicolas Charlet, Clotilde Lagier-Tourenne, Hans van Bokhoven, and Stéphane Viville Mutation in WNT1O0A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho- dermal Dysplasia Lynn Adaimy, Eliane Chouery, Hala Mégarbané, Salman Mroueh, Valérie Delague, Elsa Nicolas, Hanen Belguith, Philippe de Mazancourt, and André Mégarbane Allele-Specific Targeting of microRNAs to HLA-G and Risk of Asthma Zheng Tan, Glenn Randall, Jihua Fan, Blanca Camoretti-Mercado, Rebecca Brockman-Schneider, Lin Pan, Julian Solway, James E. Gern, Robert F. Lemanske, Jr., Dan Nicolae, and Carole Ober Mutations in CD96, a Member of the Immunoglobulin Superfamily, Cause a Form of the C (Opitz Trigonocephaly) Syndrome Tadashi Kaname, Kumiko Yanagi, Yasutsugu Chinen, Yoshio Makita, Nobuhiko Okamoto, Hiroki Maehara, Ichiro Owan, Fuminori Kanaya, Yoshiaki Kubota, Yuichi Oike, Toshiyuki Yamamoto, Kenji Kurosawa, Yoshimitsu Fukushima, Axel Bohring, John M. Opitz, Ko-ichiro Yoshiura, Norio Niikawa, and Kenji Naritomi The American Journal of Human Genetics Volume 81 October 2007 www.ajhg.org

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