Volume 84; Issue 4

The American Journal of Human Genetics

Volume 84; Issue 4

1

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, 368 KB

english, 2009

2

Haplotype-Sharing Analysis Implicates Chromosome 7q36 Harboring DPP6 in Familial Idiopathic Ventricular Fibrillation

Marielle Alders, Tamara T. Koopmann, Imke Christiaans, Pieter G. Postema, Leander Beekman, Michael W.T. Tanck, Katja Zeppenfeld, Peter Loh, Karel T. Koch, Sophie Demolombe, Marcel M.A.M. Mannens, Conn

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.20 MB

english, 2009

3

Association Test for X-Linked QTL in Family-Based Designs

Li Zhang, Eden R. Martin, Richard W. Morris, Yi-Ju Li

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 338 KB

english, 2009

4

Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2

Katarina Dathe, Klaus W. Kjaer, Anja Brehm, Peter Meinecke, Peter Nürnberg, Jordao C. Neto, Decio Brunoni, Nils Tommerup, Claus E. Ott, Eva Klopocki, Petra Seemann, Stefan Mundlos

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 990 KB

english, 2009

5

Revisiting Race in a Genomic Age

Newton E. Morton

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 53 KB

english, 2009

6

TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy

Sylvain Hanein, Isabelle Perrault, Olivier Roche, Sylvie Gerber, Noman Khadom, Marlene Rio, Nathalie Boddaert, Marc Jean-Pierre, Nora Brahimi, Valérie Serre, Dominique Chretien, Nathalie Delphin, Luca

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.07 MB

english, 2009

7

Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein

Matthew R. Avenarius, Michael S. Hildebrand, Yuzhou Zhang, Nicole C. Meyer, Luke L.H. Smith, Kimia Kahrizi, Hossein Najmabadi, Richard J.H. Smith

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 890 KB

english, 2009

8

Genome-wide Linkage Screen in Familial Parkinson Disease Identifies Loci on Chromosomes 3 and 18

Xiaoyi Gao, Eden R. Martin, Yutao Liu, Gregory Mayhew, Jeffery M. Vance, William K. Scott

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 215 KB

english, 2009

9

Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3

Jan Senderek, Sean M. Garvey, Michael Krieger, Velina Guergueltcheva, Andoni Urtizberea, Andreas Roos, Miriam Elbracht, Claudia Stendel, Ivailo Tournev, Violeta Mihailova, Howard Feit, Jeff Tramonte,

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.03 MB

english, 2009

10

Oligodontia Is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3

Abdul Noor, Christian Windpassinger, Irina Vitcu, Marija Orlic, Muhammad Arshad Rafiq, Mahwish Khalid, Mahmood Nasir Malik, Muhammad Ayub, Benjamin Alman, John B. Vincent

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 521 KB

english, 2009

11

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

Andy Itsara, Gregory M. Cooper, Carl Baker, Santhosh Girirajan, Jun Li, Devin Absher, Ronald M. Krauss, Richard M. Myers, Paul M. Ridker, Daniel I. Chasman, Heather C. Mefford, Phyllis Ying, Deborah A

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 57 KB

english, 2009

12

Winter Temperature and UV Are Tightly Linked to Genetic Changes in the p53 Tumor Suppressor Pathway in Eastern Asia

Hong Shi, Si-jie Tan, Hua Zhong, Wenwei Hu, Arnold Levine, Chun-jie Xiao, Yi Peng, Xue-bin Qi, Wei-hua Shou, Run-lin Z. Ma, Yi Li, Bing Su, Xin Lu

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 566 KB

english, 2009

13

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Helen V. Firth, Shola M. Richards, A. Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M. Pettett, Nigel P. Carter

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.34 MB

english, 2009

14

Genetic Control of Human Brain Transcript Expression in Alzheimer Disease

Jennifer A. Webster, J. Raphael Gibbs, Jennifer Clarke, Monika Ray, Weixiong Zhang, Peter Holmans, Kristen Rohrer, Alice Zhao, Lauren Marlowe, Mona Kaleem, Donald S. McCorquodale III, Cindy Cuello, Do

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 729 KB

english, 2009

15

This Month in Genetics

Kathryn B. Garber

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 50 KB

english, 2009

16

This Month in The Journal

Kathryn D. Bungartz, Robin E. Williamson

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

17

IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

Frank Oeffner, Gayle Fischer, Rudolf Happle, Arne König, Regina C. Betz, Dorothea Bornholdt, Ulrike Neidel, María del Carmen Boente, Silke Redler, Javier Romero-Gomez, Aïcha Salhi, Ángel Vera-Casaño,

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1022 KB

english, 2009

18

Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome

Amy E. Merrill, Barry Merriman, Claire Farrington-Rock, Natalia Camacho, Eiman T. Sebald, Vincent A. Funari, Matthew J. Schibler, Marc H. Firestein, Zachary A. Cohn, Mary Ann Priore, Alicia K. Thompso

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.00 MB

english, 2009

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