| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Global Perspective on Genetic Variation at the ADH Genes Reveals Unusual Patterns of Linkage Disequilibrium and Diversity
|
Osier, Michael V.
|
|
2002
|
71 |
1 |
p. 84-99
16 p.
|
artikel
|
| 2 |
A Major Susceptibility Locus for Specific Language Impairment Is Located on 13q21
|
Bartlett, Christopher W.
|
|
2002
|
71 |
1 |
p. 45-55
11 p.
|
artikel
|
| 3 |
Analysis of the RNASEL Gene in Familial and Sporadic Prostate Cancer
|
Wang, Liang
|
|
2002
|
71 |
1 |
p. 116-123
8 p.
|
artikel
|
| 4 |
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.
|
|
|
2002
|
71 |
1 |
p. 211-214
4 p.
|
artikel
|
| 5 |
A Novel Member of a Zinc Transporter Family Is Defective in Acrodermatitis Enteropathica
|
Wang, Kun
|
|
2002
|
71 |
1 |
p. 66-73
8 p.
|
artikel
|
| 6 |
A Parent-of-Origin Effect in Two Families with Retinoblastoma Is Associated with a Distinct Splice Mutation in the RB1 Gene
|
Klutz, Martina
|
|
2002
|
71 |
1 |
p. 174-179
6 p.
|
artikel
|
| 7 |
A Second Locus for Very-Late-Onset Alzheimer Disease: A Genome Scan Reveals Linkage to 20p and Epistasis between 20p and the Amyloid Precursor Protein Region
|
Olson, Jane M.
|
|
2002
|
71 |
1 |
p. 154-161
8 p.
|
artikel
|
| 8 |
BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance
|
Katsanis, Nicholas
|
|
2002
|
71 |
1 |
p. 22-29
8 p.
|
artikel
|
| 9 |
CARD15 Genetic Variation in a Quebec Population: Prevalence, Genotype-Phenotype Relationship, and Haplotype Structure
|
Vermeire, Severine
|
|
2002
|
71 |
1 |
p. 74-83
10 p.
|
artikel
|
| 10 |
Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, a Gene Highly Expressed in Polymorphonuclear Cells and Chondrocytes
|
Feldmann, Jérôme
|
|
2002
|
71 |
1 |
p. 198-203
6 p.
|
artikel
|
| 11 |
Connection between Elastin Haploinsufficiency and Increased Cell Proliferation in Patients with Supravalvular Aortic Stenosis and Williams-Beuren Syndrome
|
Urbán, Zsolt
|
|
2002
|
71 |
1 |
p. 30-44
15 p.
|
artikel
|
| 12 |
Erratum
|
|
|
2002
|
71 |
1 |
p. 215-
1 p.
|
artikel
|
| 13 |
Erratum
|
|
|
2002
|
71 |
1 |
p. 215-
1 p.
|
artikel
|
| 14 |
Erratum
|
|
|
2002
|
71 |
1 |
p. 215-
1 p.
|
artikel
|
| 15 |
Erratum
|
|
|
2002
|
71 |
1 |
p. 215-
1 p.
|
artikel
|
| 16 |
Erratum
|
|
|
2002
|
71 |
1 |
p. 215-
1 p.
|
artikel
|
| 17 |
Familial Deafness, Congenital Heart Defects, and Posterior Embryotoxon Caused by Cysteine Substitution in the First Epidermal-Growth-Factor–Like Domain of Jagged 1
|
Le Caignec, C.
|
|
2002
|
71 |
1 |
p. 180-186
7 p.
|
artikel
|
| 18 |
Genetic Dissection of Complex Traits
|
Todorov, Alexandre A.
|
|
2002
|
71 |
1 |
p. 209-210
2 p.
|
artikel
|
| 19 |
Genome Screen to Identify Susceptibility Genes for Parkinson Disease in a Sample without parkin Mutations
|
Pankratz, Nathan
|
|
2002
|
71 |
1 |
p. 124-135
12 p.
|
artikel
|
| 20 |
Hyperhomocysteinemia Due to Methionine Synthase Deficiency, cblG: Structure of the MTR Gene, Genotype Diversity, and Recognition of a Common Mutation, P1173L
|
Watkins, David
|
|
2002
|
71 |
1 |
p. 143-153
11 p.
|
artikel
|
| 21 |
Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain
|
Jackson, Andrew P.
|
|
2002
|
71 |
1 |
p. 136-142
7 p.
|
artikel
|
| 22 |
Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects
|
Cox, Gerald F.
|
|
2002
|
71 |
1 |
p. 162-164
3 p.
|
artikel
|
| 23 |
Intron-Size Constraint as a Mutational Mechanism in Rothmund-Thomson Syndrome
|
Wang, Lisa L.
|
|
2002
|
71 |
1 |
p. 165-167
3 p.
|
artikel
|
| 24 |
Meta-analysis of Genetic-Linkage Analysis of Quantitative-Trait Loci
|
Etzel, Carol J.
|
|
2002
|
71 |
1 |
p. 56-65
10 p.
|
artikel
|
| 25 |
Mitochondrial Genome Diversity of Native Americans Supports a Single Early Entry of Founder Populations into America
|
Silva, Wilson A.
|
|
2002
|
71 |
1 |
p. 187-192
6 p.
|
artikel
|
| 26 |
Mode of Inheritance and Susceptibility Locus for Restless Legs Syndrome, on Chromosome 12q
|
Kock, Norman
|
|
2002
|
71 |
1 |
p. 205-208
4 p.
|
artikel
|
| 27 |
Mutation of a Nuclear Respiratory Factor 2 Binding Site in the 5′ Untranslated Region of the ADSL Gene in Three Patients with Adenylosuccinate Lyase Deficiency
|
Marie, S.
|
|
2002
|
71 |
1 |
p. 14-21
8 p.
|
artikel
|
| 28 |
Parental Genotypes in the Risk of a Complex Disease
|
Labuda, Damian
|
|
2002
|
71 |
1 |
p. 193-197
5 p.
|
artikel
|
| 29 |
Presence of Large Deletions in Kindreds with Autism
|
Yu, Chang-En
|
|
2002
|
71 |
1 |
p. 100-115
16 p.
|
artikel
|
| 30 |
Refined Mapping of Suggestive Linkage to Renal Function in African Americans: The HyperGEN Study
|
DeWan, Andrew T.
|
|
2002
|
71 |
1 |
p. 204-205
2 p.
|
artikel
|
| 31 |
Reply to Kock et al.
|
Desautels, A.
|
|
2002
|
71 |
1 |
p. 208-
1 p.
|
artikel
|
| 32 |
Skewed X-Chromosome Inactivation Is a Common Feature of X-Linked Mental Retardation Disorders
|
Plenge, Robert M.
|
|
2002
|
71 |
1 |
p. 168-173
6 p.
|
artikel
|
| 33 |
Splitting p63
|
van Bokhoven, Hans
|
|
2002
|
71 |
1 |
p. 1-13
13 p.
|
artikel
|
| 34 |
This Month in the Journal
|
Beauregard, Kathryn
|
|
2002
|
71 |
1 |
p. i-ii
nvt p.
|
artikel
|
Tijdschrift beschrijving