Volume 77; Issue 1

The American Journal of Human Genetics

Volume 77; Issue 1

1

Announcements

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 73 KB

english, 2005

2

Germline Susceptibility to Colorectal Cancer Due to Base-Excision Repair Gene Defects

Susan M. Farrington, Albert Tenesa, Rebecca Barnetson, Alice Wiltshire, James Prendergast, Mary Porteous, Harry Campbell, Malcolm G. Dunlop

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 271 KB

english, 2005

3

Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3

Wen-Qi Zeng, Eiman Al-Yamani, James S. Acierno, Susan Slaugenhaupt, Tammy Gillis, Marcy E. MacDonald, Pinar T. Ozand, James F. Gusella

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 816 KB

english, 2005

4

An Entropy-Based Statistic for Genomewide Association Studies

Jinying Zhao, Eric Boerwinkle, Momiao Xiong

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 494 KB

english, 2005

5

Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems

Alice S. Brooks, Aida M. Bertoli-Avella, Grzegorz M. Burzynski, Guido J. Breedveld, Jan Osinga, Ludolf G. Boven, Jane A. Hurst, Grazia M.S. Mancini, Maarten H. Lequin, Rene F. de Coo, Ivana Matera, Es

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.46 MB

english, 2005

6

Disentangling Fetal and Maternal Susceptibility for Pre-Eclampsia: A British Multicenter Candidate-Gene Study

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 193 KB

english, 2005

7

Mapping of a Single Locus Capable of Complementing the Defective Heterochromatin Phenotype of Roberts Syndrome Cells

Lisa D. McDaniel, Darrell J. Tomkins, Eric J. Stanbridge, Martin J. Somerville, Errol C. Friedberg, Roger A. Schultz

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 5.17 MB

english, 2005

8

Mutations in PIP5K3 Are Associated with François-Neetens Mouchetée Fleck Corneal Dystrophy

Shouling Li, Leila Tiab, Xiaodong Jiao, Francis L. Munier, Leonidas Zografos, Béatrice E. Frueh, Yuri Sergeev, Janine Smith, Benjamin Rubin, Mario A. Meallet, Richard K. Forster, J. Fielding Hejtmanci

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 7.44 MB

english, 2005

9

Polymorphisms within the C-Reactive Protein (CRP) Promoter Region Are Associated with Plasma CRP Levels

Christopher S. Carlson, Shelley Force Aldred, Philip K. Lee, Russell P. Tracy, Stephen M. Schwartz, Mark Rieder, Kiang Liu, O. Dale Williams, Carlos Iribarren, E. Cora Lewis, Myriam Fornage, Eric Boer

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.37 MB

english, 2005

10

Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia

Axel M. Hillmer, Sandra Hanneken, Sibylle Ritzmann, Tim Becker, Jan Freudenberg, Felix F. Brockschmidt, Antonia Flaquer, Yun Freudenberg-Hua, Rami Abou Jamra, Christine Metzen, Uwe Heyn, Nadine Schwei

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.13 MB

english, 2005

11

Strong Association of the Y402H Variant in Complement Factor H at 1q32 with Susceptibility to Age-Related Macular Degeneration

Sepideh Zareparsi, Kari E.H. Branham, Mingyao Li, Sapna Shah, Robert J. Klein, Jurg Ott, Josephine Hoh, Gonçalo R. Abecasis, Anand Swaroop

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 229 KB

english, 2005

12

Segmental Duplications and Copy-Number Variation in the Human Genome

Andrew J. Sharp, Devin P. Locke, Sean D. McGrath, Ze Cheng, Jeffrey A. Bailey, Rhea U. Vallente, Lisa M. Pertz, Royden A. Clark, Stuart Schwartz, Rick Segraves, Vanessa V. Oseroff, Donna G. Albertson,

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.55 MB

english, 2005

13

3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome

Lionel Willatt, James Cox, John Barber, Elisabet Dachs Cabanas, Amanda Collins, Dian Donnai, David R. FitzPatrick, Eddy Maher, Howard Martin, Josep Parnau, Lesley Pindar, Jacqueline Ramsay, Charles Sh

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.32 MB

english, 2005

14

Characterization of a New Syndrome That Associates Craniosynostosis, Delayed Fontanel Closure, Parietal Foramina, Imperforate Anus, and Skin Eruption: CDAGS

Roberto Mendoza-Londono, Edward Lammer, Rosemarie Watson, John Harper, Atsushi Hatamochi, Saori Hatamochi-Hayashi, Dobrawa Napierala, Pia Hermanns, Sinead Collins, Benjamin B. Roa, Madhuri R. Hedge, K

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.90 MB

english, 2005

15

Identification of a Major Recombination Hotspot in Patients with Short Stature and SHOX Deficiency

Katja U. Schneider, Nitin Sabherwal, Karin Jantz, Ralph Röth, Nadja Muncke, Werner F. Blum, Gordon B. Cutler, Gudrun Rappold

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.84 MB

english, 2005

16

Identifying Novel Genes for Atherosclerosis through Mouse-Human Comparative Genetics

Xiaosong Wang, Naoki Ishimori, Ron Korstanje, Jarod Rollins, Beverly Paigen

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.95 MB

english, 2005

17

A Powerful and Robust Method for Mapping Quantitative Trait Loci in General Pedigrees

G. Diao, D.Y. Lin

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 943 KB

english, 2005

18

This Month in the Journal

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 112 KB

english, 2005

19

Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene

Charles E. Schwartz, Melanie M. May, Nancy J. Carpenter, R. Curtis Rogers, Judith Martin, Martin G. Bialer, Jewell Ward, Javier Sanabria, Silvana Marsa, James A. Lewis, Roberto Echeverri, Herbert A. L

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.09 MB

english, 2005

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