| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Founding Locus within the RET Proto-Oncogene May Account for a Large Proportion of Apparently Sporadic Hirschsprung Disease and a Subset of Cases of Sporadic Medullary Thyroid Carcinoma
|
Borrego, Salud
|
|
2003
|
72 |
1 |
p. 88-100
13 p.
|
artikel
|
| 2 |
A 122.5-Kilobase Deletion of the P Gene Underlies the High Prevalence of Oculocutaneous Albinism Type 2 in the Navajo Population
|
Yi, Zanhua
|
|
2003
|
72 |
1 |
p. 62-72
11 p.
|
artikel
|
| 3 |
A Locus for Migraine without Aura Maps on Chromosome 14q21.2-q22.3
|
Soragna, D.
|
|
2003
|
72 |
1 |
p. 161-167
7 p.
|
artikel
|
| 4 |
A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia
|
van Swieten, John C.
|
|
2003
|
72 |
1 |
p. 191-199
9 p.
|
artikel
|
| 5 |
Announcements 1 1. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Room 301, Atlanta, GA 30322-3050; fax them to (404) 712-9984; or send via E-mail to ajhg@emory.edu. Submission must be received at least 7 weeks before the month of issue in which publication is requested. They must be double spaced with a 1½-inch margin on all sides. The maximum length is 250 words, excluding the address for correspondence. Please include a cover letter indicating the name of the sponsoring ASHG member.
|
|
|
2003
|
72 |
1 |
p. 223-224
2 p.
|
artikel
|
| 6 |
Another Case of Imprinting Defect in a Girl with Angelman Syndrome Who Was Conceived by Intracytoplasmic Sperm Injection
|
Ørstavik, K.H.
|
|
2003
|
72 |
1 |
p. 218-219
2 p.
|
artikel
|
| 7 |
Association between the Severity of Angiographic Coronary Artery Disease and Paraoxonase Gene Polymorphisms in the National Heart, Lung, and Blood Institute–Sponsored Women’s Ischemia Syndrome Evaluation (WISE) Study
|
Chen, Qi
|
|
2003
|
72 |
1 |
p. 13-22
10 p.
|
artikel
|
| 8 |
Association of In Vitro Fertilization with Beckwith-Wiedemann Syndrome and Epigenetic Alterations of LIT1 and H19
|
DeBaun, Michael R.
|
|
2003
|
72 |
1 |
p. 156-160
5 p.
|
artikel
|
| 9 |
Association of Neuregulin 1 with Schizophrenia Confirmed in a Scottish Population
|
Stefansson, Hreinn
|
|
2003
|
72 |
1 |
p. 83-87
5 p.
|
artikel
|
| 10 |
A Susceptibility Gene for Psoriatic Arthritis Maps to Chromosome 16q: Evidence for Imprinting
|
Karason, Ari
|
|
2003
|
72 |
1 |
p. 125-131
7 p.
|
artikel
|
| 11 |
Characterization of Genetic Miscoding Lesions Caused by Postmortem Damage
|
Gilbert, M. Thomas P.
|
|
2003
|
72 |
1 |
p. 48-61
14 p.
|
artikel
|
| 12 |
Common Sequence Variants of the Macrophage Scavenger Receptor 1 Gene Are Associated with Prostate Cancer Risk
|
Xu, Jianfeng
|
|
2003
|
72 |
1 |
p. 208-212
5 p.
|
artikel
|
| 13 |
Comparison of Genome Screens for Two Independent Cohorts Provides Replication of Suggestive Linkage of Bone Mineral Density to 3p21 and 1p36
|
Wilson, S.G.
|
|
2003
|
72 |
1 |
p. 144-155
12 p.
|
artikel
|
| 14 |
Distribution Patterns of Postmortem Damage in Human Mitochondrial DNA
|
Gilbert, M. Thomas P.
|
|
2003
|
72 |
1 |
p. 32-47
16 p.
|
artikel
|
| 15 |
Early-Onset Brain Tumor and Lymphoma in MSH2-Deficient Children
|
Bougeard, Gaëlle
|
|
2003
|
72 |
1 |
p. 213-216
4 p.
|
artikel
|
| 16 |
Erratum
|
|
|
2003
|
72 |
1 |
p. 225-
1 p.
|
artikel
|
| 17 |
Hereditary p16-Leiden Mutation in a Patient with Multiple Head and Neck Tumors
|
Schneider-Stock, Regine
|
|
2003
|
72 |
1 |
p. 216-218
3 p.
|
artikel
|
| 18 |
Identification of CRYM as a Candidate Responsible for Nonsyndromic Deafness, through cDNA Microarray Analysis of Human Cochlear and Vestibular Tissues * * Nucleotide sequence data reported herein are available in the DDBJ/EMBL/GenBank databases; for details, see the Electronic-Database Information section of this article.
|
Abe, Satoko
|
|
2003
|
72 |
1 |
p. 73-82
10 p.
|
artikel
|
| 19 |
Interacting Genetic Loci on Chromosomes 20 and 10 Influence Extreme Human Obesity
|
Dong, Chuanhui
|
|
2003
|
72 |
1 |
p. 115-124
10 p.
|
artikel
|
| 20 |
Mutations in COX15 Produce a Defect in the Mitochondrial Heme Biosynthetic Pathway, Causing Early-Onset Fatal Hypertrophic Cardiomyopathy
|
Antonicka, Hana
|
|
2003
|
72 |
1 |
p. 101-114
14 p.
|
artikel
|
| 21 |
NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes
|
Douglas, Jenny
|
|
2003
|
72 |
1 |
p. 132-143
12 p.
|
artikel
|
| 22 |
Pharmacogenomics.
|
Frueh, Felix
|
|
2003
|
72 |
1 |
p. 220-221
2 p.
|
artikel
|
| 23 |
Recombinant Enzyme Therapy for Fabry Disease: Absence of Editing of Human α-Galactosidase A mRNA
|
Blom, Daniël
|
|
2003
|
72 |
1 |
p. 23-31
9 p.
|
artikel
|
| 24 |
Significant Linkage on Chromosome 10p in Families with Bulimia Nervosa
|
Bulik, Cynthia M.
|
|
2003
|
72 |
1 |
p. 200-207
8 p.
|
artikel
|
| 25 |
Support for Association of Schizophrenia with Genetic Variation in the 6p22.3 Gene, Dysbindin, in Sib-Pair Families with Linkage and in an Additional Sample of Triad Families
|
Schwab, Sibylle G.
|
|
2003
|
72 |
1 |
p. 185-190
6 p.
|
artikel
|
| 26 |
Susceptibility Loci for Preeclampsia on Chromosomes 2p25 and 9p13 in Finnish Families
|
Laivuori, Hannele
|
|
2003
|
72 |
1 |
p. 168-177
10 p.
|
artikel
|
| 27 |
The Genetic Origins of the Andaman Islanders
|
Endicott, Phillip
|
|
2003
|
72 |
1 |
p. 178-184
7 p.
|
artikel
|
| 28 |
The Molecule Hunt.
|
de Knijff, Peter
|
|
2003
|
72 |
1 |
p. 221-222
2 p.
|
artikel
|
| 29 |
This Month in the Journal
|
Garber, Kathryn
|
|
2003
|
72 |
1 |
p. i-ii
nvt p.
|
artikel
|
| 30 |
Two Percent of Men with Early-Onset Prostate Cancer Harbor Germline Mutations in the BRCA2 Gene
|
Edwards, Stephen M.
|
|
2003
|
72 |
1 |
p. 1-12
12 p.
|
artikel
|
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