Volume 84; Issue 5

The American Journal of Human Genetics

Volume 84; Issue 5

1

Ovaries and Female Phenotype in a Girl with 46,XY Karyotype and Mutations in the CBX2 Gene

Anna Biason-Lauber, Daniel Konrad, Monika Meyer, Carine deBeaufort, Eugen J. Schoenle

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 494 KB

english, 2009

2

Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

Manir Ali, Martin McKibbin, Adam Booth, David A. Parry, Payal Jain, S. Amer Riazuddin, J. Fielding Hejtmancik, Shaheen N. Khan, Sabika Firasat, Mike Shires, David F. Gilmour, Katherine Towns, Anna-Lou

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.05 MB

english, 2009

3

A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease

Andrew J. Duncan, Maria Bitner-Glindzicz, Brigitte Meunier, Harry Costello, Iain P. Hargreaves, Luis C. López, Michio Hirano, Catarina M. Quinzii, Michael I. Sadowski, John Hardy, Andrew Singleton, Pe

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 487 KB

english, 2009

4

Gain-of-Function Mutation of KIT Ligand on Melanin Synthesis Causes Familial Progressive Hyperpigmentation

Zhi-Qiang Wang, Lizhen Si, Quan Tang, Debao Lin, Zhangjie Fu, Jing Zhang, Bin Cui, Yufei Zhu, Xianghua Kong, Min Deng, Yu Xia, Heng Xu, Weidong Le, Landian Hu, Xiangyin Kong

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 539 KB

english, 2009

5

Multilocus Bayesian Meta-Analysis of Gene-Disease Associations

Paul J. Newcombe, Claudio Verzilli, Juan P. Casas, Aroon D. Hingorani, Liam Smeeth, John C. Whittaker

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 419 KB

english, 2009

6

Significant Linkage Evidence for a Predisposition Gene for Pelvic Floor Disorders on Chromosome 9q21

Kristina Allen-Brady, Peggy A. Norton, James M. Farnham, Craig Teerlink, Lisa A. Cannon-Albright

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 262 KB

english, 2009

7

Genome-wide Association Study of Vitamin B6, Vitamin B12, Folate, and Homocysteine Blood Concentrations

Toshiko Tanaka, Paul Scheet, Betti Giusti, Stefania Bandinelli, Maria Grazia Piras, Gianluca Usala, Sandra Lai, Antonella Mulas, Anna Maria Corsi, Anna Vestrini, Francesco Sofi, Anna Maria Gori, Rosan

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 29 KB

english, 2009

8

The Mitochondrial Disulfide Relay System Protein GFER Is Mutated in Autosomal-Recessive Myopathy with Cataract and Combined Respiratory-Chain Deficiency

Alessio Di Fonzo, Dario Ronchi, Tiziana Lodi, Elisa Fassone, Marco Tigano, Costanza Lamperti, Stefania Corti, Andreina Bordoni, Francesco Fortunato, Monica Nizzardo, Laura Napoli, Chiara Donadoni, Sab

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 2.31 MB

english, 2009

9

Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice

David A. Parry, Carmel Toomes, Lina Bida, Michael Danciger, Katherine V. Towns, Martin McKibbin, Samuel G. Jacobson, Clare V. Logan, Manir Ali, Jacquelyn Bond, Rebecca Chance, Steven Swendeman, Lauren

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.26 MB

english, 2009

10

Genome-wide Association Analysis Identifies PDE4D as an Asthma-Susceptibility Gene

Blanca E. Himes, Gary M. Hunninghake, James W. Baurley, Nicholas M. Rafaels, Patrick Sleiman, David P. Strachan, Jemma B. Wilk, Saffron A.G. Willis-Owen, Barbara Klanderman, Jessica Lasky-Su, Ross Laz

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 821 KB

english, 2009

11

Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease

Dong-Chuan Guo, Christina L. Papke, Van Tran-Fadulu, Ellen S. Regalado, Nili Avidan, Ralph Jay Johnson, Dong H. Kim, Hariyadarshi Pannu, Marcia C. Willing, Elizabeth Sparks, Reed E. Pyeritz, Michael N

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.42 MB

english, 2009

12

IFRD1 Is a Candidate Gene for SMNA on Chromosome 7q22-q23

Zoran Brkanac, David Spencer, Jay Shendure, Peggy D. Robertson, Mark Matsushita, Tiffany Vu, Thomas D. Bird, Maynard V. Olson, Wendy H. Raskind

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 471 KB

english, 2009

13

Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene

Stephen R.F. Twigg, Sarah L. Versnel, Gudrun Nürnberg, Melissa M. Lees, Meenakshi Bhat, Peter Hammond, Raoul C.M. Hennekam, A. Jeannette M. Hoogeboom, Jane A. Hurst, David Johnson, Alexis A. Robinson,

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.17 MB

english, 2009

14

Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder

Regina Waltes, Reinhard Kalb, Magtouf Gatei, Amanda W. Kijas, Markus Stumm, Alexandra Sobeck, Britta Wieland, Raymonda Varon, Yaniv Lerenthal, Martin F. Lavin, Detlev Schindler, Thilo Dörk

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 867 KB

english, 2009

15

This Month in Genetics

Kathryn B. Garber

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 46 KB

english, 2009

16

Genetic Effects on Environmental Vulnerability to Disease

Heather M. Ochs-Balcom

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 28 KB

english, 2009

17

The Diversity Present in 5140 Human Mitochondrial Genomes

Luísa Pereira, Fernando Freitas, Verónica Fernandes, Joana B. Pereira, Marta D. Costa, Stephanie Costa, Valdemar Máximo, Vincent Macaulay, Ricardo Rocha, David C. Samuels

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 674 KB

english, 2009

18

Mutations of KCNJ10 Together with Mutations of SLC26A4 Cause Digenic Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Syndrome

Tao Yang, Jose G. Gurrola II, Hao Wu, Sui M. Chiu, Philine Wangemann, Peter M. Snyder, Richard J.H. Smith

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 287 KB

english, 2009

19

Genome-wide Insights into the Patterns and Determinants of Fine-Scale Population Structure in Humans

Shameek Biswas, Laura B. Scheinfeldt, Joshua M. Akey

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 522 KB

english, 2009

20

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

Nathalie Dagoneau, Marie Goulet, David Geneviève, Yves Sznajer, Jelena Martinovic, Sarah Smithson, Céline Huber, Geneviève Baujat, Elisabeth Flori, Laura Tecco, Denise Cavalcanti, Anne-Lise Delezoide,

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 925 KB

english, 2009

21

This Month in The Journal

Kathryn D. Bungartz, Robin E. Williamson

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 45 KB

english, 2009

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