Volume 72; Issue 6

The American Journal of Human Genetics

Volume 72; Issue 6

1

This Month in the Journal

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 42 KB

english, 2003

2

Announcements

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 40 KB

english, 2003

3

Association of Specific Language Impairment (SLI) to the Region of 7q31

Erin K. O’Brien, Xuyang Zhang, Carla Nishimura, J. Bruce Tomblin, Jeffrey C. Murray

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 471 KB

english, 2003

4

Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations

Anne Fogli, Diana Rodriguez, Eléonore Eymard-Pierre, Françoise Bouhour, Pierre Labauge, Brandon F. Meaney, Susan Zeesman, Christine R. Kaneski, Raphael Schiffmann, Odile Boespflug-Tanguy

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 226 KB

english, 2003

5

Familial and Ovarian Cancer: Genetics, Screening and Management

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 37 KB

english, 2003

6

Errors, Phantom and Otherwise, in Human mtDNA Sequences

Corinna Herrnstadt, Gwen Preston, Neil Howell

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 48 KB

english, 2003

7

South Asia, the Andamanese, and the Genetic Evidence for an “Early” Human Dispersal out of Africa

Richard Cordaux, Mark Stoneking

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 272 KB

english, 2003

8

Reply to Cordaux and Stoneking

Phillip Endicott, Vincent Macaulay, Toomas Kivisild, Chris Stringer, Alan Cooper

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 65 KB

english, 2003

9

A Genomewide Screen for Generalized Vitiligo: Confirmation of AIS1 on Chromosome 1p31 and Evidence for Additional Susceptibility Loci

Pamela R. Fain, Katherine Gowan, Greggory S. LaBerge, Asem Alkhateeb, Gary L. Stetler, Janet Talbert, Dorothy C. Bennett, Richard A. Spritz

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 78 KB

english, 2003

10

A Locus for Autosomal Dominant Mitral Valve Prolapse on Chromosome 11p15.4

Lisa A. Freed, James S. Acierno Jr., Daisy Dai, Maire Leyne, Jane E. Marshall, Francesca Nesta, Robert A. Levine, Susan A. Slaugenhaupt

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.31 MB

english, 2003

11

A Populationwide Coalescent Analysis of Icelandic Matrilineal and Patrilineal Genealogies: Evidence for a Faster Evolutionary Rate of mtDNA Lineages than Y Chromosomes

Agnar Helgason, Birgir Hrafnkelsson, Jeffrey R. Gulcher, Ryk Ward, Kári Stefánsson

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 873 KB

english, 2003

12

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

Juha Kolehmainen, Graeme C.M. Black, Anne Saarinen, Kate Chandler, Jill Clayton-Smith, Ann-Liz Träskelin, Rahat Perveen, Satu Kivitie-Kallio, Reijo Norio, Mette Warburg, Jean-Pierre Fryns, Albert de l

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 832 KB

english, 2003

13

The Structure of Linkage Disequilibrium at the DBH Locus Strongly Influences the Magnitude of Association between Diallelic Markers and Plasma Dopamine β-Hydroxylase Activity

Cyrus P. Zabetian, Sarah G. Buxbaum, Robert C. Elston, Michael D. Köhnke, George M. Anderson, Joel Gelernter, Joseph F. Cubells

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.21 MB

english, 2003

14

A Whole-Genome Screen of a Quantitative Trait of Age-Related Maculopathy in Sibships from the Beaver Dam Eye Study

James H. Schick, Sudha K. Iyengar, Barbara E. Klein, Ronald Klein, Karlie Reading, Rachel Liptak, Christopher Millard, Kristine E. Lee, Sandra C. Tomany, Emily L. Moore, Bonnie A. Fijal, Robert C. Els

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.08 MB

english, 2003

15

Variation in the HLA-G Promoter Region Influences Miscarriage Rates

Carole Ober, Carrie L. Aldrich, Inna Chervoneva, Christine Billstrand, Fedik Rahimov, Heather L. Gray, Terry Hyslop

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 654 KB

english, 2003

16

Sequence Analysis of the Mitochondrial Genomes from Dutch Pedigrees with Leber Hereditary Optic Neuropathy

Neil Howell, Roelof-Jan Oostra, Piet A. Bolhuis, Liesbeth Spruijt, Lorne A. Clarke, David A. Mackey, Gwen Preston, Corinna Herrnstadt

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 317 KB

english, 2003

17

Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation

Vera M. Kalscheuer, Jiong Tao, Andrew Donnelly, Georgina Hollway, Eberhard Schwinger, Sabine Kübart, Corinna Menzel, Maria Hoeltzenbein, Niels Tommerup, Helen Eyre, Michael Harbord, Eric Haan, Grant R

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.19 MB

english, 2003

18

Mutations of the PAX6 Gene Detected in Patients with a Variety of Optic-Nerve Malformations

Noriyuki Azuma, Yuki Yamaguchi, Hiroshi Handa, Keiko Tadokoro, Atsuko Asaka, Eriko Kawase, Masao Yamada

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 328 KB

english, 2003

19

Genomewide Scan for Hand Osteoarthritis: A Novel Mutation in Matrilin-3

Stefán Einar Stefánsson, Helgi Jónsson, Thorvaldur Ingvarsson, Ileana Manolescu, Hjörtur H. Jónsson, Guðbjörg Ólafsdóttir, Ebba Pálsdóttir, Gerður Stefánsdóttir, Guðfinna Sveinbjörnsdóttir, Michael L.

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.63 MB

english, 2003

20

Essentials of Medical Genomics

Matthew E. Mealiffe

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 34 KB

english, 2003

21

Control of Confounding of Genetic Associations in Stratified Populations

Clive J. Hoggart, Esteban J. Parra, Mark D. Shriver, Carolina Bonilla, Rick A. Kittles, David G. Clayton, Paul M. McKeigue

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 123 KB

english, 2003

22

Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia

Alexandre Irrthum, Koenraad Devriendt, David Chitayat, Gert Matthijs, Conrad Glade, Peter M. Steijlen, Jean-Pierre Fryns, Maurice A. M. Van Steensel, Miikka Vikkula

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 486 KB

english, 2003

23

Reply to Bunce et al.

Bruno Copin, Antoine P. Brézin, Françoise Valtot, Jean-Claude Dascotte, Alain Béchetoille, Henri-Jean Garchon

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 52 KB

english, 2003

24

Single-Nucleotide Polymorphisms and Glaucoma Severity

Catey Bunce, Roger A. Hitchings, Shomi S. Bhattacharya, Ordan J. Lehmann

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 55 KB

english, 2003

25

Identification of a Novel Gene and a Common Variant Associated with Uric Acid Nephrolithiasis in a Sardinian Genetic Isolate

Fernando Gianfrancesco, Teresa Esposito, Maria Neve Ombra, Paola Forabosco, Giuseppe Maninchedda, Mauro Fattorini, Stefania Casula, Simona Vaccargiu, Giuseppina Casu, Francesco Cardia, Ivo Deiana, Pao

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.01 MB

english, 2003

26

Two Modes of Germline Instability at Human Minisatellite MS1 (Locus D1S7): Complex Rearrangements and Paradoxical Hyperdeletion

Ingrid Berg, Rita Neumann, Håkan Cederberg, Ulf Rannug, Alec J. Jeffreys

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.51 MB

english, 2003

27

Multiple Mutations ofMYO1A, a Cochlear-Expressed Gene, in Sensorineural Hearing Loss

Francesca Donaudy, Antonella Ferrara, Laura Esposito, Ronna Hertzano, Orit Ben-David, Rachel E. Bell, Salvatore Melchionda, Leopoldo Zelante, Karen B. Avraham, Paolo Gasparini

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 298 KB

english, 2003

28

Association and Interaction of the IL4R, IL4, and IL13 Loci with Type 1 Diabetes among Filipinos

Teodorica L. Bugawan, Daniel B. Mirel, Ana M. Valdes, Araceli Panelo, Paolo Pozzilli, Henry A. Erlich

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 807 KB

english, 2003

29

A Novel Class of Tests for the Detection of Mitochondrial DNA–Mutation Involvement in Diseases

Fengzhu Sun, Jing Cui, Haralambos Gavras, Faina Schwartz

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 194 KB

english, 2003

30

A Neutral Explanation for the Correlation of Diversity with Recombination Rates in Humans

Ines Hellmann, Ingo Ebersberger, Susan E. Ptak, Svante Pääbo, Molly Przeworski

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.03 MB

english, 2003

31

Definition of a Critical Region on Chromosome 18 for Congenital Aural Atresia by ArrayCGH

Joris A. Veltman, Yvonne Jonkers, Inge Nuijten, Irene Janssen, Walter van der Vliet, Erik Huys, Joris Vermeesch, Griet Van Buggenhout, Jean-Pierre Fryns, Ronald Admiraal, Paulien Terhal, Didier Lacomb

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 550 KB

english, 2003

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