| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa
|
Breuer, Debra K.
|
|
2002
|
70 |
6 |
p. 1545-1554
10 p.
|
artikel
|
| 2 |
A Major Predisposition Locus for Severe Obesity, at 4p15-p14
|
Stone, Steven
|
|
2002
|
70 |
6 |
p. 1459-1468
10 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 toajhg@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 ½-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
|
70 |
6 |
p. 1603-1604
2 p.
|
artikel
|
| 4 |
Apolipoprotein E–Promoter Single-Nucleotide Polymorphisms Affect the Phenotype of Primary Open-Angle Glaucoma and Demonstrate Interaction with the Myocilin Gene
|
Copin, Bruno
|
|
2002
|
70 |
6 |
p. 1575-1581
7 p.
|
artikel
|
| 5 |
A Rheostat Model for a Rapid and Reversible Form of Imprinting-Dependent Evolution
|
Beaudet, Arthur L.
|
|
2002
|
70 |
6 |
p. 1389-1397
9 p.
|
artikel
|
| 6 |
Contiguous Deletion of the X-Linked Adrenoleukodystrophy Gene (ABCD1) and DXS1357E: A Novel Neonatal Phenotype Similar to Peroxisomal Biogenesis Disorders
|
Corzo, Deyanira
|
|
2002
|
70 |
6 |
p. 1520-1531
12 p.
|
artikel
|
| 7 |
Founding Mothers of Jewish Communities: Geographically Separated Jewish Groups Were Independently Founded by Very Few Female Ancestors
|
Thomas, Mark G.
|
|
2002
|
70 |
6 |
p. 1411-1420
10 p.
|
artikel
|
| 8 |
Genetic Evidence for the Expansion of Arabian Tribes into the Southern Levant and North Africa
|
Nebel, Almut
|
|
2002
|
70 |
6 |
p. 1594-1596
3 p.
|
artikel
|
| 9 |
Genomewide Comparison of DNA Sequences between Humans and Chimpanzees
|
Ebersberger, Ingo
|
|
2002
|
70 |
6 |
p. 1490-1497
8 p.
|
artikel
|
| 10 |
Krit1 Missense Mutations Lead to Splicing Errors in Cerebral Cavernous Malformation
|
Verlaan, Dominique J.
|
|
2002
|
70 |
6 |
p. 1564-1567
4 p.
|
artikel
|
| 11 |
Minimum-Recombinant Haplotyping in Pedigrees
|
Qian, Dajun
|
|
2002
|
70 |
6 |
p. 1434-1445
12 p.
|
artikel
|
| 12 |
Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy
|
Demir, Ercan
|
|
2002
|
70 |
6 |
p. 1446-1458
13 p.
|
artikel
|
| 13 |
New Mutations of CIAS1 That Are Responsible for Muckle-Wells Syndrome and Familial Cold Urticaria: A Novel Mutation Underlies Both Syndromes
|
Dodé, Catherine
|
|
2002
|
70 |
6 |
p. 1498-1506
9 p.
|
artikel
|
| 14 |
Paternally Transmitted FMR1 Alleles Are Less Stable than Maternally Transmitted Alleles in the Common and Intermediate Size Range
|
Sullivan, Amy K.
|
|
2002
|
70 |
6 |
p. 1532-1544
13 p.
|
artikel
|
| 15 |
Patterns of Meiotic Recombination in Human Fetal Oocytes
|
Tease, Charles
|
|
2002
|
70 |
6 |
p. 1469-1479
11 p.
|
artikel
|
| 16 |
Power Calculations for Genetic Association Studies Using Estimated Probability Distributions
|
Schork, Nicholas J.
|
|
2002
|
70 |
6 |
p. 1480-1489
10 p.
|
artikel
|
| 17 |
PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity
|
Tartaglia, Marco
|
|
2002
|
70 |
6 |
p. 1555-1563
9 p.
|
artikel
|
| 18 |
Recurrent Mutation of the Gene Encoding sequestosome 1 (SQSTM1/p62) in Paget Disease of Bone
|
Laurin, Nancy
|
|
2002
|
70 |
6 |
p. 1582-1588
7 p.
|
artikel
|
| 19 |
Reinvestigation of Peroxisomal 3-Ketoacyl-CoA Thiolase Deficiency: Identification of the True Defect at the Level of d-Bifunctional Protein
|
Ferdinandusse, S.
|
|
2002
|
70 |
6 |
p. 1589-1593
5 p.
|
artikel
|
| 20 |
Reply to Ogino and Wilson
|
Feldkötter, Markus
|
|
2002
|
70 |
6 |
p. 1598-1599
2 p.
|
artikel
|
| 21 |
SMN Dosage Analysis and Risk Assessment for Spinal Muscular Atrophy
|
Ogino, Shuji
|
|
2002
|
70 |
6 |
p. 1596-1598
3 p.
|
artikel
|
| 22 |
Stable Variants of Sperm Aneuploidy among Healthy Men Show Associations between Germinal and Somatic Aneuploidy
|
Rubes, Jiri
|
|
2002
|
70 |
6 |
p. 1507-1519
13 p.
|
artikel
|
| 23 |
Systematic Evaluation of Map Quality: Human Chromosome 22
|
Matise, Tara C.
|
|
2002
|
70 |
6 |
p. 1398-1410
13 p.
|
artikel
|
| 24 |
The Gene Encoding Nicastrin, a Major γ-Secretase Component, Modifies Risk for Familial Early-Onset Alzheimer Disease in a Dutch Population-Based Sample
|
Dermaut, Bart
|
|
2002
|
70 |
6 |
p. 1568-1574
7 p.
|
artikel
|
| 25 |
The National Institutes of Health Announces Online Availability of “Points to Consider When Planning a Genetic Study That Involves Members of Named Populations”
|
Greenberg, Judith H.
|
|
2002
|
70 |
6 |
p. 1602-
1 p.
|
artikel
|
| 26 |
The Power of Multivariate Quantitative-Trait Loci Linkage Analysis Is Influenced by the Correlation between Variables
|
Evans, David M.
|
|
2002
|
70 |
6 |
p. 1599-1602
4 p.
|
artikel
|
| 27 |
This Month in the Journal
|
Beauregard, Kathryn
|
|
2002
|
70 |
6 |
p. i-ii
nvt p.
|
artikel
|
| 28 |
Unusual Splice-Site Mutations in the RSK2 Gene and Suggestion of Genetic Heterogeneity in Coffin-Lowry Syndrome
|
Zeniou, Maria
|
|
2002
|
70 |
6 |
p. 1421-1433
13 p.
|
artikel
|
Tijdschrift beschrijving