| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Analyses of the Effects That Disease-Causing Missense Mutations Have on the Structure and Function of the Winged-Helix Protein FOXC1
|
Saleem, Ramsey A.
|
|
2001
|
68 |
3 |
p. 627-641
15 p.
|
artikel
|
| 2 |
Analysis of the Prostate Cancer–Susceptibility Locus HPC20 in 172 Families Affected by Prostate Cancer
|
Bock, Cathryn H.
|
|
2001
|
68 |
3 |
p. 795-801
7 p.
|
artikel
|
| 3 |
A New Locus for Autosomal Dominant Familial Exudative Vitreoretinopathy Maps to Chromosome 11p12-13
|
Downey, L.M.
|
|
2001
|
68 |
3 |
p. 778-781
4 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, Emory University School of Medicine, 1462 Clifton Road, Room B28, 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.
|
|
|
2001
|
68 |
3 |
p. 813-817
5 p.
|
artikel
|
| 5 |
A Phase 1/2 Clinical Trial of Enzyme Replacement in Fabry Disease: Pharmacokinetic, Substrate Clearance, and Safety Studies
|
Eng, Christine M.
|
|
2001
|
68 |
3 |
p. 711-722
12 p.
|
artikel
|
| 6 |
A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22
|
Héon, Elise
|
|
2001
|
68 |
3 |
p. 772-777
6 p.
|
artikel
|
| 7 |
Association between a Single-Nucleotide Polymorphism in the Promoter of the Human Interleukin-3 Gene and Rheumatoid Arthritis in Japanese Patients, and Maximum-Likelihood Estimation of Combinatorial Effect That Two Genetic Loci Have on Susceptibility to the Disease
|
Yamada, Ryo
|
|
2001
|
68 |
3 |
p. 674-685
12 p.
|
artikel
|
| 8 |
Atypical Forms of Incontinentia Pigmenti in Male Individuals Result from Mutations of a Cytosine Tract in Exon 10 of NEMO (IKK-γ)
|
Aradhya, Swaroop
|
|
2001
|
68 |
3 |
p. 765-771
7 p.
|
artikel
|
| 9 |
Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein
|
Brunkow, Mary E.
|
|
2001
|
68 |
3 |
p. 577-589
13 p.
|
artikel
|
| 10 |
Complete Loss of P/Q Calcium Channel Activity Caused by a CACNA1A Missense Mutation Carried by Patients with Episodic Ataxia Type 2
|
Guida, Serena
|
|
2001
|
68 |
3 |
p. 759-764
6 p.
|
artikel
|
| 11 |
Complex HLA-DR and -DQ Interactions Confer Risk of Narcolepsy-Cataplexy in Three Ethnic Groups
|
Mignot, Emmanuel
|
|
2001
|
68 |
3 |
p. 686-699
14 p.
|
artikel
|
| 12 |
Compound Heterozygosity for a Recurrent 16.5-kb Alu-Mediated Deletion Mutation and Single-Base-Pair Substitutions in the ABCC6 Gene Results in Pseudoxanthoma Elasticum
|
Ringpfeil, Franziska
|
|
2001
|
68 |
3 |
p. 642-652
11 p.
|
artikel
|
| 13 |
Connexin Mutations in Skin Disease and Hearing Loss
|
Kelsell, David P.
|
|
2001
|
68 |
3 |
p. 559-568
10 p.
|
artikel
|
| 14 |
Erratum
|
|
|
2001
|
68 |
3 |
p. 818-
1 p.
|
artikel
|
| 15 |
Estimation of Sibling Recurrence-Risk Ratio under Single Ascertainment in Two-Child Families
|
Wickramaratne, Priya J.
|
|
2001
|
68 |
3 |
p. 807-810
4 p.
|
artikel
|
| 16 |
Familial Dysautonomia Is Caused by Mutations of the IKAP Gene
|
Anderson, Sylvia L.
|
|
2001
|
68 |
3 |
p. 753-758
6 p.
|
artikel
|
| 17 |
Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of Other Loci
|
Beales, Philip L.
|
|
2001
|
68 |
3 |
p. 606-616
11 p.
|
artikel
|
| 18 |
Genomewide Genetic Linkage Analysis Confirms the Presence of Susceptibility Loci for Schizophrenia, on Chromosomes 1q32.2, 5q33.2, and 8p21-22 and Provides Support for Linkage to Schizophrenia, on Chromosomes 11q23.3-24 and 20q12.1-11.23
|
Gurling, Hugh M.D.
|
|
2001
|
68 |
3 |
p. 661-673
13 p.
|
artikel
|
| 19 |
Identification of the Gene for Oral-Facial-Digital Type I Syndrome
|
Ferrante, Maria I.
|
|
2001
|
68 |
3 |
p. 569-576
8 p.
|
artikel
|
| 20 |
In Southern Africa, Brown Oculocutaneous Albinism (BOCA) Maps to the OCA2 Locus on Chromosome 15q: P-Gene Mutations Identified
|
Manga, Prashiela
|
|
2001
|
68 |
3 |
p. 782-787
6 p.
|
artikel
|
| 21 |
Linkage of Benign Familial Infantile Convulsions to Chromosome 16p12-q12 Suggests Allelism to the Infantile Convulsions and Choreoathetosis Syndrome
|
Caraballo, Roberto
|
|
2001
|
68 |
3 |
p. 788-794
7 p.
|
artikel
|
| 22 |
mtDNA and the Islands of the North Atlantic: Estimating the Proportions of Norse and Gaelic Ancestry
|
Helgason, Agnar
|
|
2001
|
68 |
3 |
p. 723-737
15 p.
|
artikel
|
| 23 |
Origin of the Mutations in the parkin Gene in Europe: Exon Rearrangements Are Independent Recurrent Events, whereas Point Mutations May Result from Founder Effects
|
Periquet, Magali
|
|
2001
|
68 |
3 |
p. 617-626
10 p.
|
artikel
|
| 24 |
Patterns of Ancestral Human Diversity: An Analysis of Alu-Insertion and Restriction-Site Polymorphisms
|
Watkins, W.S.
|
|
2001
|
68 |
3 |
p. 738-752
15 p.
|
artikel
|
| 25 |
Prevalence and Penetrance of Germline BRCA1 and BRCA2 Mutations in a Population Series of 649 Women with Ovarian Cancer
|
Risch, Harvey A.
|
|
2001
|
68 |
3 |
p. 700-710
11 p.
|
artikel
|
| 26 |
Random Intracellular Drift Explains the Clonal Expansion of Mitochondrial DNA Mutations with Age
|
Elson, J.L.
|
|
2001
|
68 |
3 |
p. 802-806
5 p.
|
artikel
|
| 27 |
Reply to Wickramaratne and Hodge
|
Guo, Sun-Wei
|
|
2001
|
68 |
3 |
p. 810-812
3 p.
|
artikel
|
| 28 |
Spectrum of Perforin Gene Mutations in Familial Hemophagocytic Lymphohistiocytosis
|
Göransdotter Ericson, Kim
|
|
2001
|
68 |
3 |
p. 590-597
8 p.
|
artikel
|
| 29 |
This Month in the Journal
|
Beauregard, Kathryn
|
|
2001
|
68 |
3 |
p. i-ii
nvt p.
|
artikel
|
| 30 |
Tissue-Specific Expression of a Splicing Mutation in the IKBKAP Gene Causes Familial Dysautonomia
|
Slaugenhaupt, Susan A.
|
|
2001
|
68 |
3 |
p. 598-605
8 p.
|
artikel
|
| 31 |
Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia in Two Unrelated Families
|
Eden, Emily R.
|
|
2001
|
68 |
3 |
p. 653-660
8 p.
|
artikel
|
Tijdschrift beschrijving