| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Genetic Landscape Reshaped by Recent Events: Y-Chromosomal Insights into Central Asia
|
Zerjal, Tatiana
|
|
2002
|
71 |
3 |
p. 466-482
17 p.
|
artikel
|
| 2 |
A Major Susceptibility Gene for Asthma Maps to Chromosome 14q24
|
Hakonarson, Hakon
|
|
2002
|
71 |
3 |
p. 483-491
9 p.
|
artikel
|
| 3 |
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 |
3 |
p. 689-692
4 p.
|
artikel
|
| 4 |
Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encoding Noggin *
|
Brown, David J.
|
|
2002
|
71 |
3 |
p. 618-624
7 p.
|
artikel
|
| 5 |
BRCA2 T2722R Is a Deleterious Allele That Causes Exon Skipping
|
Fackenthal, James D.
|
|
2002
|
71 |
3 |
p. 625-631
7 p.
|
artikel
|
| 6 |
Contribution of BRCA1 and BRCA2 Mutations to Breast and Ovarian Cancer in Pakistan
|
Liede, Alexander
|
|
2002
|
71 |
3 |
p. 595-606
12 p.
|
artikel
|
| 7 |
Contributions of 18 Additional DNA Sequence Variations in the Gene Encoding Apolipoprotein E to Explaining Variation in Quantitative Measures of Lipid Metabolism
|
Stengård, Jari H.
|
|
2002
|
71 |
3 |
p. 501-517
17 p.
|
artikel
|
| 8 |
Disorders of Voluntary Muscle
|
Muntoni, Francesco
|
|
2002
|
71 |
3 |
p. 687-688
2 p.
|
artikel
|
| 9 |
Dissecting the Genetic Complexity of the Association between Human Leukocyte Antigens and Rheumatoid Arthritis
|
Jawaheer, Damini
|
|
2002
|
71 |
3 |
p. 585-594
10 p.
|
artikel
|
| 10 |
DNA Sequence Variation in a 3.7-kb Noncoding Sequence 5′ of the CYP1A2 Gene: Implications for Human Population History and Natural Selection
|
Wooding, S.P.
|
|
2002
|
71 |
3 |
p. 528-542
15 p.
|
artikel
|
| 11 |
Erratum
|
|
|
2002
|
71 |
3 |
p. 693-
1 p.
|
artikel
|
| 12 |
Evidence for the Role of PWCR1/HBII-85 C/D Box Small Nucleolar RNAs in Prader-Willi Syndrome
|
Gallagher, Renata C.
|
|
2002
|
71 |
3 |
p. 669-678
10 p.
|
artikel
|
| 13 |
Family-Based Analysis Using a Dense Single-Nucleotide Polymorphism–Based Map Defines Genetic Variation at PSORS1, the Major Psoriasis-Susceptibility Locus
|
Veal, Colin D.
|
|
2002
|
71 |
3 |
p. 554-564
11 p.
|
artikel
|
| 14 |
Genomewide Linkage Disequilibrium Mapping of Severe Bipolar Disorder in a Population Isolate
|
Ophoff, Roel A.
|
|
2002
|
71 |
3 |
p. 565-574
10 p.
|
artikel
|
| 15 |
Identical Mitochondrial DNA Deletion in a Woman with Ocular Myopathy and in Her Son with Pearson Syndrome
|
Shanske, Sara
|
|
2002
|
71 |
3 |
p. 679-683
5 p.
|
artikel
|
| 16 |
Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene
|
Eymard-Pierre, Eleonore
|
|
2002
|
71 |
3 |
p. 518-527
10 p.
|
artikel
|
| 17 |
KCNJ2 Mutation Results in Andersen Syndrome with Sex-Specific Cardiac and Skeletal Muscle Phenotypes
|
Andelfinger, Gregor
|
|
2002
|
71 |
3 |
p. 663-668
6 p.
|
artikel
|
| 18 |
London Dysmorphology Database, London Neurogenetics Database & Dysmorphology Photo Library on CD-ROM
|
Bass, Harold N.
|
|
2002
|
71 |
3 |
p. 687-
1 p.
|
artikel
|
| 19 |
Major Recessive Gene(s) with Considerable Residual Polygenic Effect Regulating Adult Height: Confirmation of Genomewide Scan Results for Chromosomes 6, 9, and 12
|
Xu, Jianfeng
|
|
2002
|
71 |
3 |
p. 646-650
5 p.
|
artikel
|
| 20 |
Mutations in a Novel Gene, TMIE, Are Associated with Hearing Loss Linked to the DFNB6 Locus
|
Naz, Sadaf
|
|
2002
|
71 |
3 |
p. 632-636
5 p.
|
artikel
|
| 21 |
Mutations in Two Genes Encoding Different Subunits of a Receptor Signaling Complex Result in an Identical Disease Phenotype
|
Paloneva, Juha
|
|
2002
|
71 |
3 |
p. 656-662
7 p.
|
artikel
|
| 22 |
Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro-α1(V) N-Propeptides and Ehlers-Danlos Syndrome Type I
|
Takahara, Kazuhiko
|
|
2002
|
71 |
3 |
p. 451-465
15 p.
|
artikel
|
| 23 |
Power Calculations for a General Class of Family-Based Association Tests: Dichotomous Traits
|
Lange, Christoph
|
|
2002
|
71 |
3 |
p. 575-584
10 p.
|
artikel
|
| 24 |
Reply to Veromann
|
Berry, Vanita
|
|
2002
|
71 |
3 |
p. 685-686
2 p.
|
artikel
|
| 25 |
The Brain-Derived Neurotrophic Factor Gene Confers Susceptibility to Bipolar Disorder: Evidence from a Family-Based Association Study
|
Neves-Pereira, Maria
|
|
2002
|
71 |
3 |
p. 651-655
5 p.
|
artikel
|
| 26 |
Theoretical Considerations Regarding the Study “Alpha-B Crystallin Gene (CRYAB) Mutation Causes Dominant Congenital Posterior Polar Cataract in Humans”
|
Veromann, Siiri
|
|
2002
|
71 |
3 |
p. 684-685
2 p.
|
artikel
|
| 27 |
The Xq22 Inversion Breakpoint Interrupted a Novel Ras-Like GTPase Gene in a Patient with Duchenne Muscular Dystrophy and Profound Mental Retardation
|
Saito-Ohara, Fumiko
|
|
2002
|
71 |
3 |
p. 637-645
9 p.
|
artikel
|
| 28 |
This Month in the Journal
|
Beauregard, Kathryn
|
|
2002
|
71 |
3 |
p. i-ii
nvt p.
|
artikel
|
| 29 |
Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin
|
Hackman, Peter
|
|
2002
|
71 |
3 |
p. 492-500
9 p.
|
artikel
|
| 30 |
Usher Syndrome Type III: Revised Genomic Structure of the USH3 Gene and Identification of Novel Mutations
|
Fields, Randall R.
|
|
2002
|
71 |
3 |
p. 607-617
11 p.
|
artikel
|
| 31 |
Visualizing Human Leukocyte Antigen Class II Risk Haplotypes in Human Systemic Lupus Erythematosus
|
Graham, Robert R.
|
|
2002
|
71 |
3 |
p. 543-553
11 p.
|
artikel
|
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