Volume 86; Issue 4

The American Journal of Human Genetics

Volume 86; Issue 4

1

The LCR at the IKBKG Locus Is Prone to Recombine

Francesca Fusco, Michele D'Urso, Maria Giuseppina Miano, Matilde Valeria Ursini

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 147 KB

english, 2010

2

A Follow-Up Study of a Genome-wide Association Scan Identifies a Susceptibility Locus for Venous Thrombosis on Chromosome 6p24.1

Pierre-Emmanuel Morange, Irene Bezemer, Noémie Saut, Lance Bare, Gwenaelle Burgos, Jessy Brocheton, Hervé Durand, Christine Biron-Andreani, Jean-Francois Schved, Gilles Pernod, Pilar Galan, Ludovic Dr

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 143 KB

english, 2010

3

Strong Maternal Khoisan Contribution to the South African Coloured Population: A Case of Gender-Biased Admixture

Lluis Quintana-Murci, Christine Harmant, Hélène Quach, Oleg Balanovsky, Valery Zaporozhchenko, Connie Bormans, Paul D. van Helden, Eileen G. Hoal, Doron M. Behar

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 285 KB

english, 2010

4

Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction

Margit Schraders, Jaap Oostrik, Patrick L.M. Huygen, Tim M. Strom, Erwin van Wijk, Henricus P.M. Kunst, Lies H. Hoefsloot, Cor W.R.J. Cremers, Ronald J.C. Admiraal, Hannie Kremer

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 657 KB

english, 2010

5

Common Variants of Large Effect in F12, KNG1, and HRG Are Associated with Activated Partial Thromboplastin Time

Lorna M. Houlihan, Gail Davies, Albert Tenesa, Sarah E. Harris, Michelle Luciano, Alan J. Gow, Kevin A. McGhee, David C. Liewald, David J. Porteous, John M. Starr, Gordon D. Lowe, Peter M. Visscher, I

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 364 KB

english, 2010

6

A Variant in LIN28B Is Associated with 2D:4D Finger-Length Ratio, a Putative Retrospective Biomarker of Prenatal Testosterone Exposure

Sarah E. Medland, Tetyana Zayats, Beate Glaser, Dale R. Nyholt, Scott D. Gordon, Margaret J. Wright, Grant W. Montgomery, Megan J. Campbell, Anjali K. Henders, Nicholas J. Timpson, Leena Peltonen, Die

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 225 KB

english, 2010

7

A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis

Johanna Dahlqvist, Joakim Klar, Neha Tiwari, Jens Schuster, Hans Törmä, Jitendra Badhai, Ramon Pujol, Maurice A.M. van Steensel, Tjinta Brinkhuizen, Lieke Gijezen, Antonio Chaves, Gianluca Tadini, And

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 630 KB

english, 2010

8

On Genome-wide Association Studies for Family-Based Designs: An Integrative Analysis Approach Combining Ascertained Family Samples with Unselected Controls

Jessica Lasky-Su, Sungho Won, Eric Mick, Richard J.L. Anney, Barbara Franke, Benjamin Neale, Joseph Biederman, Susan L. Smalley, Sandra K. Loo, Alexandre Todorov, Stephen V. Faraone, Scott T. Weiss, C

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 229 KB

english, 2010

9

Integrating Pathway Analysis and Genetics of Gene Expression for Genome-wide Association Studies

Hua Zhong, Xia Yang, Lee M. Kaplan, Cliona Molony, Eric E. Schadt

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 388 KB

english, 2010

10

High-Resolution Detection of Identity by Descent in Unrelated Individuals

Sharon R. Browning, Brian L. Browning

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 401 KB

english, 2010

11

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

Yasemin Alanay, Hrispima Avaygan, Natalia Camacho, G. Eda Utine, Koray Boduroglu, Dilek Aktas, Mehmet Alikasifoglu, Ergul Tuncbilek, Diclehan Orhan, Filiz Tiker Bakar, Bernard Zabel, Andrea Superti-Fu

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.28 MB

english, 2010

12

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and Humans

Passorn Wonnapinij, Patrick F. Chinnery, David C. Samuels

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 447 KB

english, 2010

13

PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment

Arjan P.M. de Brouwer, Hans van Bokhoven, Sander B. Nabuurs, Willem Frans Arts, John Christodoulou, John Duley

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 861 KB

english, 2010

14

Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture

Yutaka Shimomura, Muhammad Wajid, Lynn Petukhova, Mazen Kurban, Angela M. Christiano

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1012 KB

english, 2010

15

Response to Fusco et al.

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 45 KB

english, 2010

16

Evidence for Polygenic Susceptibility to Multiple Sclerosis—The Shape of Things to Come

The International Multiple Sclerosis Genetics Consortium (IMSGC)

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 147 KB

english, 2010

17

Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor

Daniele Ghezzi, Irina Sevrioukova, Federica Invernizzi, Costanza Lamperti, Marina Mora, Pio D'Adamo, Francesca Novara, Orsetta Zuffardi, Graziella Uziel, Massimo Zeviani

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.42 MB

english, 2010

18

Robust Replication of Genotype-Phenotype Associations across Multiple Diseases in an Electronic Medical Record

Marylyn D. Ritchie, Joshua C. Denny, Dana C. Crawford, Andrea H. Ramirez, Justin B. Weiner, Jill M. Pulley, Melissa A. Basford, Kristin Brown-Gentry, Jeffrey R. Balser, Daniel R. Masys, Jonathan L. Ha

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 432 KB

english, 2010

19

This Month in Genetics

Kathryn B. Garber

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 55 KB

english, 2010

20

This Month in The Journal

Kathryn D. Bungartz, Robin E. Williamson

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 46 KB

english, 2010

21

Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia

Leana Doherty, Mee Rie Sheen, Adrianna Vlachos, Valerie Choesmel, Marie-Françoise O'Donohue, Catherine Clinton, Hal E. Schneider, Colin A. Sieff, Peter E. Newburger, Sarah E. Ball, Edyta Niewiadomska,

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 44 KB

english, 2010

22

A Follow-Up Study of a Genome-wide Association Scan Identifies a Susceptibility Locus for Venous Thrombosis on Chromosome 6p24.1

Pierre-Emmanuel Morange, Irene Bezemer, Noémie Saut, Lance Bare, Gwenaelle Burgos, Jessy Brocheton, Hervé Durand, Christine Biron-Andreani, Jean-Francois Schved, Gilles Pernod, Pilar Galan, Ludovic Dr

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 31 KB

english, 2010

23

A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis

Johanna Dahlqvist, Joakim Klar, Neha Tiwari, Jens Schuster, Hans Törmä, Jitendra Badhai, Ramon Pujol, Maurice A.M. van Steensel, Tjinta Brinkhuizen, Lieke Gijezen, Antonio Chaves, Gianluca Tadini, And

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 31 KB

english, 2010

24

Strong Maternal Khoisan Contribution to the South African Coloured Population: A Case of Gender-Biased Admixture

Lluis Quintana-Murci, Christine Harmant, Hélène Quach, Oleg Balanovsky, Valery Zaporozhchenko, Connie Bormans, Paul D. van Helden, Eileen G. Hoal, Doron M. Behar

Journal:

The American Journal of Human Genetics

Year:

2010

File:

PDF, 26 KB

2010

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