Volume 78; Issue 1

The American Journal of Human Genetics

Volume 78; Issue 1

1

This Month in the Journal

Robin E. Williamson

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 49 KB

english, 2006

2

Announcements

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 47 KB

english, 2006

3

Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria

Laurent Gouya, Caroline Martin-Schmitt, Anne-Marie Robreau, Frédéric Austerlitz, Vasco Da Silva, Patrick Brun, Sylvie Simonin, Saïd Lyoumi, Bernard Grandchamp, Carole Beaumont, Hervé Puy, Jean-Charles

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 705 KB

english, 2006

4

Interruptions in the Expanded ATTCT Repeat of Spinocerebellar Ataxia Type 10: Repeat Purity as a Disease Modifier?

Tohru Matsuura, Ping Fang, Christopher E. Pearson, Parul Jayakar, Tetsuo Ashizawa, Benjamin B. Roa, David L. Nelson

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 201 KB

english, 2006

5

A Testing Framework for Identifying Susceptibility Genes in the Presence of Epistasis

Joshua Millstein, David V. Conti, Frank D. Gilliland, W. James Gauderman

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 998 KB

english, 2006

6

A Scan of Chromosome 10 Identifies a Novel Locus Showing Strong Association with Late-Onset Alzheimer Disease

Andrew Grupe, Yonghong Li, Charles Rowland, Petra Nowotny, Anthony L. Hinrichs, Scott Smemo, John S.K. Kauwe, Taylor J. Maxwell, Sara Cherny, Lisa Doil, Kristina Tacey, Ryan van Luchene, Amanda Myers,

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 817 KB

english, 2006

7

Deletion of PREPL, a Gene Encoding a Putative Serine Oligopeptidase, in Patients with Hypotonia-Cystinuria Syndrome

Jaak Jaeken, Kevin Martens, Inge François, François Eyskens, Claudine Lecointre, Rita Derua, Sandra Meulemans, Jerry W. Slootstra, Etienne Waelkens, Francis de Zegher, John W.M. Creemers, Gert Matthij

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 2.44 MB

english, 2006

8

Determinants of Exon 7 Splicing in the Spinal Muscular Atrophy Genes, SMN1 and SMN2

Luca Cartegni, Michelle L. Hastings, John A. Calarco, Elisa de Stanchina, Adrian R. Krainer

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 1.17 MB

english, 2006

9

Mutation of the LUNATIC FRINGE Gene in Humans Causes Spondylocostal Dysostosis with a Severe Vertebral Phenotype

D.B. Sparrow, G. Chapman, M.A. Wouters, N.V. Whittock, S. Ellard, D. Fatkin, P.D. Turnpenny, K. Kusumi, D. Sillence, S.L. Dunwoodie

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 774 KB

english, 2006

10

Mutational Spectrum of d-Bifunctional Protein Deficiency and Structure-Based Genotype-Phenotype Analysis

Sacha Ferdinandusse, Mari S. Ylianttila, Jolein Gloerich, M. Kristian Koski, Wendy Oostheim, Hans R. Waterham, J. Kalervo Hiltunen, Ronald J.A. Wanders, Tuomo Glumoff

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 618 KB

english, 2006

11

Erratum

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 32 KB

english, 2006

12

Strong Genetic Evidence of DCDC2 as a Susceptibility Gene for Dyslexia

Johannes Schumacher, Heidi Anthoni, Faten Dahdouh, Inke R. König, Axel M. Hillmer, Nadine Kluck, Malou Manthey, Ellen Plume, Andreas Warnke, Helmut Remschmidt, Jutta Hülsmann, Sven Cichon, Cecilia M.

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 958 KB

english, 2006

13

Mutations in TRIOBP, Which Encodes a Putative Cytoskeletal-Organizing Protein, Are Associated with Nonsyndromic Recessive Deafness

Saima Riazuddin, Shaheen N. Khan, Zubair M. Ahmed, Manju Ghosh, Kyle Caution, Sabiha Nazli, Madhulika Kabra, Ahmad U. Zafar, Kevin Chen, Sadaf Naz, Anthony Antonellis, William J. Pavan, Eric D. Green,

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 836 KB

english, 2006

14

Screening for Recently Selected Alleles by Analysis of Human Haplotype Similarity

Neil A. Hanchard, Kirk A. Rockett, Chris Spencer, Graham Coop, Margaret Pinder, Muminatou Jallow, Martin Kimber, Gil McVean, Richard Mott, Dominic P. Kwiatkowski

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 483 KB

english, 2006

15

Functional Variant in a Bitter-Taste Receptor (hTAS2R16) Influences Risk of Alcohol Dependence

Anthony L. Hinrichs, Jen C. Wang, Bernd Bufe, Jennifer M. Kwon, John Budde, Rebecca Allen, Sarah Bertelsen, Whitney Evans, Danielle Dick, John Rice, Tatiana Foroud, John Nurnberger, Jay A. Tischfield,

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 1.01 MB

english, 2006

16

Transactivation Function of an ∼800-bp Evolutionarily Conserved Sequence at the SHOX 3′ Region: Implication for the Downstream Enhancer

Maki Fukami, Fumiko Kato, Toshihiro Tajima, Susumu Yokoya, Tsutomu Ogata

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 339 KB

english, 2006

17

Variants Associated with Common Disease Are Not Unusually Differentiated in Frequency across Populations

Kirk E. Lohmueller, Matthew M. Mauney, David Reich, John M. Braverman

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 97 KB

english, 2006

18

A Germline Mutation in BLOC1S3/Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8)

Neil V. Morgan, Shanaz Pasha, Colin A. Johnson, John R. Ainsworth, Robin A.J. Eady, Ban Dawood, Carole McKeown, Richard C. Trembath, Jonathan Wilde, Steve P. Watson, Eamonn R. Maher

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 1.16 MB

english, 2006

19

Society News

Joann A. Boughman

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 34 KB

english, 2006

20

Mutations in a Novel Isoform of TRIOBP That Encodes a Filamentous-Actin Binding Protein Are Responsible for DFNB28 Recessive Nonsyndromic Hearing Loss

Hashem Shahin, Tom Walsh, Tama Sobe, Judeh Abu Sa’ed, Amal Abu Rayan, Eric D. Lynch, Ming K. Lee, Karen B. Avraham, Mary-Claire King, Moein Kanaan

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 2.37 MB

english, 2006

21

A Genetic and Cultural Odyssey: The Life and Work of L. Luca Cavalli-Sforza

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 36 KB

english, 2006

22

You Say Goodbye and I Say Hello…

Cynthia Casson Morton

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 146 KB

english, 2006

23

Epimerase-Deficiency Galactosemia Is Not a Binary Condition

Kimberly K. Openo, Jenny M. Schulz, Claudia A. Vargas, Corey S. Orton, Michael P. Epstein, Rhonda E. Schnur, Fernando Scaglia, Gerard T. Berry, Gary S. Gottesman, Can Ficicioglu, Alfred E. Slonim, Ric

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 530 KB

english, 2006