| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Biologist’s Guide to Analysis of DNA Microarray Data
|
Feilotter, Harriet
|
|
2002
|
71 |
6 |
p. 1483-1484
2 p.
|
artikel
|
| 2 |
A Highly Significant Association between a COMT Haplotype and Schizophrenia
|
Shifman, Sagiv
|
|
2002
|
71 |
6 |
p. 1296-1302
7 p.
|
artikel
|
| 3 |
A Missense Mutation (R565W) in Cirhin (FLJ14728) in North American Indian Childhood Cirrhosis
|
Chagnon, Pierre
|
|
2002
|
71 |
6 |
p. 1443-1449
7 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 |
6 |
p. 1486-1488
3 p.
|
artikel
|
| 5 |
Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1
|
Dgany, Orly
|
|
2002
|
71 |
6 |
p. 1467-1474
8 p.
|
artikel
|
| 6 |
Direct Detection of Insertion/Deletion Polymorphisms in an Autosomal Region by Analyzing High-Density Markers in Individual Spermatozoa
|
Pramanik, Sreemanta
|
|
2002
|
71 |
6 |
p. 1342-1352
11 p.
|
artikel
|
| 7 |
Editorial Reviewers for 2002
|
|
|
2002
|
71 |
6 |
p. i-vi
nvt p.
|
artikel
|
| 8 |
Erratum
|
|
|
2002
|
71 |
6 |
p. 1489-
1 p.
|
artikel
|
| 9 |
Evidence That Paternal Expression of the ε-Sarcoglycan Gene Accounts for Reduced Penetrance in Myoclonus-Dystonia
|
Müller, Birgitt
|
|
2002
|
71 |
6 |
p. 1303-1311
9 p.
|
artikel
|
| 10 |
Haplotype Block Structure and Its Applications to Association Studies: Power and Study Designs
|
Zhang, Kui
|
|
2002
|
71 |
6 |
p. 1386-1394
9 p.
|
artikel
|
| 11 |
Male Mouse Recombination Maps for Each Autosome Identified by Chromosome Painting
|
Froenicke, Lutz
|
|
2002
|
71 |
6 |
p. 1353-1368
16 p.
|
artikel
|
| 12 |
Mapping Human History: Discovering the Past through Our Genes
|
Jorde, Lynn
|
|
2002
|
71 |
6 |
p. 1484-1485
2 p.
|
artikel
|
| 13 |
Meta-Analysis of Associations of the Ser217Leu and Ala541Thr Variants in ELAC2 (HPC2) and Prostate Cancer
|
Camp, Nicola J.
|
|
2002
|
71 |
6 |
p. 1475-1478
4 p.
|
artikel
|
| 14 |
3-Methylglutaconic Aciduria Type I Is Caused by Mutations in AUH
|
IJlst, Lodewijk
|
|
2002
|
71 |
6 |
p. 1463-1466
4 p.
|
artikel
|
| 15 |
Molecular Analysis of Collagen XVIII Reveals Novel Mutations, Presence of a Third Isoform, and Possible Genetic Heterogeneity in Knobloch Syndrome
|
Suzuki, O.T.
|
|
2002
|
71 |
6 |
p. 1320-1329
10 p.
|
artikel
|
| 16 |
Molecular Analysis of the Cyclic AMP-Dependent Protein Kinase A (PKA) Regulatory Subunit 1A (PRKAR1A) Gene in Patients with Carney Complex and Primary Pigmented Nodular Adrenocortical Disease (PPNAD) Reveals Novel Mutations and Clues For Pathophysiology: Augmented PKA Signaling is Associated with Adrenal Tumorigenesis in PPNAD
|
Groussin, Lionel
|
|
2002
|
71 |
6 |
p. 1433-1442
10 p.
|
artikel
|
| 17 |
Multiplex Relative Risk and Estimation of the Number of Loci Underlying an Inherited Disease
|
Schliekelman, Paul
|
|
2002
|
71 |
6 |
p. 1369-1385
17 p.
|
artikel
|
| 18 |
myotilin Mutation Found in Second Pedigree with LGMD1A
|
Hauser, Michael A.
|
|
2002
|
71 |
6 |
p. 1428-1432
5 p.
|
artikel
|
| 19 |
Parental Origin and Timing of De Novo Robertsonian Translocation Formation
|
Bandyopadhyay, Ruma
|
|
2002
|
71 |
6 |
p. 1456-1462
7 p.
|
artikel
|
| 20 |
Power and Design Considerations for a General Class of Family-Based Association Tests: Quantitative Traits
|
Lange, Christoph
|
|
2002
|
71 |
6 |
p. 1330-1341
12 p.
|
artikel
|
| 21 |
Regarding “Testing for Population Subdivision and Association in Four Case-Control Studies”
|
Pankow, James S.
|
|
2002
|
71 |
6 |
p. 1478-1480
3 p.
|
artikel
|
| 22 |
Rett Syndrome and MeCP2: Linking Epigenetics and Neuronal Function
|
Shahbazian, Mona D.
|
|
2002
|
71 |
6 |
p. 1259-1272
14 p.
|
artikel
|
| 23 |
RHD Maternal-Fetal Genotype Incompatibility Increases Schizophrenia Susceptibility
|
Palmer, Christina G.S.
|
|
2002
|
71 |
6 |
p. 1312-1319
8 p.
|
artikel
|
| 24 |
Structural Analysis of Insulin Minisatellite Alleles Reveals Unusually Large Differences in Diversity between Africans and Non-Africans
|
Stead, John D.H.
|
|
2002
|
71 |
6 |
p. 1273-1284
12 p.
|
artikel
|
| 25 |
Structural and Functional Characterization of Factor H Mutations Associated with Atypical Hemolytic Uremic Syndrome
|
Sánchez-Corral, Pilar
|
|
2002
|
71 |
6 |
p. 1285-1295
11 p.
|
artikel
|
| 26 |
The ABCA4 Gene in Autosomal Recessive Cone-Rod Dystrophies
|
Ducroq, Dominique
|
|
2002
|
71 |
6 |
p. 1480-1482
3 p.
|
artikel
|
| 27 |
The Deficiency of PIP2 5-Phosphatase in Lowe Syndrome Affects Actin Polymerization
|
Suchy, Sharon F.
|
|
2002
|
71 |
6 |
p. 1420-1427
8 p.
|
artikel
|
| 28 |
The Demographics and Distribution of Type B Niemann-Pick Disease: Novel Mutations Lead to New Genotype/Phenotype Correlations
|
Simonaro, Calogera M.
|
|
2002
|
71 |
6 |
p. 1413-1419
7 p.
|
artikel
|
| 29 |
The Founder Mutation MSH2*1906G→C Is an Important Cause of Hereditary Nonpolyposis Colorectal Cancer in the Ashkenazi Jewish Population
|
Foulkes, W.D.
|
|
2002
|
71 |
6 |
p. 1395-1412
18 p.
|
artikel
|
| 30 |
This Month in the Journal
|
Beauregard, Kathryn
|
|
2002
|
71 |
6 |
p. vii-viii
nvt p.
|
artikel
|
| 31 |
Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency
|
Laumonnier, Frédéric
|
|
2002
|
71 |
6 |
p. 1450-1455
6 p.
|
artikel
|
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