| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
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 Pathology, Box 357470, University of Washington, Seattle, WA 98195-7470; fax them to (206) 685-9684; or send via E-mail to ajhg@u.washington.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.
|
|
|
1997
|
61 |
6 |
p. 1464-1467
4 p.
|
artikel
|
| 2 |
Author Index for Volume 61
|
|
|
1997
|
61 |
6 |
p. 1474-1481
8 p.
|
artikel
|
| 3 |
Autosomal Dominant Postaxial Polydactyly, Nail Dystrophy, and Dental Abnormalities Map to Chromosome 4p16, in the Region Containing the Ellis–van Creveld Syndrome Locus
|
Howard, Timothy D.
|
|
1997
|
61 |
6 |
p. 1405-1412
8 p.
|
artikel
|
| 4 |
Centromere DNA Dynamics: Latent Centromeres and Neocentromere Formation
|
Choo, K.H. Andy
|
|
1997
|
61 |
6 |
p. 1225-1233
9 p.
|
artikel
|
| 5 |
Cloning of the Human Carnitine-Acylcarnitine Carrier cDNA and Identification of the Molecular Defect in a Patient
|
Huizing, Marjan
|
|
1997
|
61 |
6 |
p. 1239-1245
7 p.
|
artikel
|
| 6 |
Comparison of Nonparametric Statistics for Detection of Linkage in Nuclear Families: Single-Marker Evaluation
|
Davis, Sean
|
|
1997
|
61 |
6 |
p. 1431-1444
14 p.
|
artikel
|
| 7 |
Diversity and Age of the Four Major mtDNA Haplogroups, and Their Implications for the Peopling of the New World
|
Bonatto, Sandro L.
|
|
1997
|
61 |
6 |
p. 1413-1423
11 p.
|
artikel
|
| 8 |
Dynamic Interrelationships between DNA Replication, Methylation, and Repair
|
Robertson, Keith D.
|
|
1997
|
61 |
6 |
p. 1220-1224
5 p.
|
artikel
|
| 9 |
Editorial Reviewers for 1997
|
|
|
1997
|
61 |
6 |
p. 1469-1473
5 p.
|
artikel
|
| 10 |
Erratum
|
|
|
1997
|
61 |
6 |
p. 1468-
1 p.
|
artikel
|
| 11 |
Erratum
|
|
|
1997
|
61 |
6 |
p. 1468-
1 p.
|
artikel
|
| 12 |
Erratum
|
|
|
1997
|
61 |
6 |
p. 1468-
1 p.
|
artikel
|
| 13 |
Fragile X Premutations Are Not a Major Cause of Early Menopause
|
Kenneson, Aileen
|
|
1997
|
61 |
6 |
p. 1362-1369
8 p.
|
artikel
|
| 14 |
Genetic Segregation Analysis of Early-Onset Recurrent Unipolar Depression
|
Marazita, Mary L.
|
|
1997
|
61 |
6 |
p. 1370-1378
9 p.
|
artikel
|
| 15 |
Genomewide Scan of Multiple Sclerosis in Finnish Multiplex Families
|
Kuokkanen, Satu
|
|
1997
|
61 |
6 |
p. 1379-1387
9 p.
|
artikel
|
| 16 |
Genomewide Transmission/Disequilibrium Testing—Consideration of the Genotypic Relative Risks at Disease Loci
|
Camp, Nicola J.
|
|
1997
|
61 |
6 |
p. 1424-1430
7 p.
|
artikel
|
| 17 |
Genomic Imprinting: A Chromatin Connection
|
Feil, Robert
|
|
1997
|
61 |
6 |
p. 1213-1219
7 p.
|
artikel
|
| 18 |
Goosecoid-Like Sequences and the Smallest Region of Deletion Overlap in DiGeorge and Velocardiofacial Syndromes
|
Pragliola, Antonella
|
|
1997
|
61 |
6 |
p. 1456-1458
3 p.
|
artikel
|
| 19 |
Homogeneity of Kerato-Epithelin Codon 124 Mutations in Japanese Patients with Either of Two Types of Corneal Stromal Dystrophy
|
Mashima, Yukihiko
|
|
1997
|
61 |
6 |
p. 1448-1450
3 p.
|
artikel
|
| 20 |
Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations
|
Kayaalp, Emre
|
|
1997
|
61 |
6 |
p. 1309-1317
9 p.
|
artikel
|
| 21 |
Identification of an Interstitial Deletion in an Adult Female with Schizophrenia, Mental Retardation, and Dysmorphic Features: Further Support for a Putative Schizophrenia-Susceptibility Locus at 5q21-23.1
|
Bennett, Robin L.
|
|
1997
|
61 |
6 |
p. 1450-1454
5 p.
|
artikel
|
| 22 |
Inherited Interstitial Duplications of Proximal 15q: Genotype-Phenotype Correlations
|
Browne, C.E.
|
|
1997
|
61 |
6 |
p. 1342-1352
11 p.
|
artikel
|
| 23 |
Inherited Mutations in PTEN That Are Associated with Breast Cancer, Cowden Disease, and Juvenile Polyposis
|
Lynch, Eric D.
|
|
1997
|
61 |
6 |
p. 1254-1260
7 p.
|
artikel
|
| 24 |
Instability of the (CTG) n Repeat in Congenital Myotonic Dystrophy
|
Wong, Lee-Jun C.
|
|
1997
|
61 |
6 |
p. 1445-1448
4 p.
|
artikel
|
| 25 |
Isolation and Chromosomal Localization of a Cornea-Specific Human Keratin 12 Gene and Detection of Four Mutations in Meesmann Corneal Epithelial Dystrophy
|
Nishida, Kohji
|
|
1997
|
61 |
6 |
p. 1268-1275
8 p.
|
artikel
|
| 26 |
Linkage of Bipolar Affective Disorder to Chromosome 18 Markers in a New Pedigree Series
|
McMahon, Francis J.
|
|
1997
|
61 |
6 |
p. 1397-1404
8 p.
|
artikel
|
| 27 |
Localization of the Gene for Thiamine-Responsive Megaloblastic Anemia Syndrome, on the Long Arm of Chromosome 1, by Homozygosity Mapping
|
Neufeld, Ellis J.
|
|
1997
|
61 |
6 |
p. 1335-1341
7 p.
|
artikel
|
| 28 |
Meiotic Microdeletion Breakpoints in the BRCA1 Gene Are Significantly Associated with Symmetric DNA-Sequence Elements
|
Schmucker, Beatrice
|
|
1997
|
61 |
6 |
p. 1454-1456
3 p.
|
artikel
|
| 29 |
Molecular Analysis of the NF2 Tumor-Suppressor Gene in Schwannomatosis
|
Jacoby, Lee B.
|
|
1997
|
61 |
6 |
p. 1293-1302
10 p.
|
artikel
|
| 30 |
Mutations in PDX1, the Human Lipoyl-Containing Component X of the Pyruvate Dehydrogenase–Complex Gene on Chromosome 11p1, in Congenital Lactic Acidosis
|
Aral, Bernard
|
|
1997
|
61 |
6 |
p. 1318-1326
9 p.
|
artikel
|
| 31 |
Mutations of the Fanconi Anemia Group A Gene (FAA) in Italian Patients
|
Savino, Maria
|
|
1997
|
61 |
6 |
p. 1246-1253
8 p.
|
artikel
|
| 32 |
Novel Alleles of the Chemokine-Receptor Gene CCR5
|
Carrington, Mary
|
|
1997
|
61 |
6 |
p. 1261-1267
7 p.
|
artikel
|
| 33 |
Oxford Medical Databases
|
Friedman, J.M.
|
|
1997
|
61 |
6 |
p. 1462-1463
2 p.
|
artikel
|
| 34 |
Peutz-Jeghers Syndrome: Confirmation of Linkage to Chromosome 19p13.3 and Identification of a Potential Second Locus, on 19q13.4
|
Mehenni, Hamid
|
|
1997
|
61 |
6 |
p. 1327-1334
8 p.
|
artikel
|
| 35 |
Pharmacogenetics
|
Nebert, Daniel W.
|
|
1997
|
61 |
6 |
p. 1461-1462
2 p.
|
artikel
|
| 36 |
PTEN: Sometimes Taking It Off Can Be Better than Putting It On
|
Myers, Michael P.
|
|
1997
|
61 |
6 |
p. 1234-1238
5 p.
|
artikel
|
| 37 |
Reply to Pragliola et al.
|
Gottlieb, S.
|
|
1997
|
61 |
6 |
p. 1458-1459
2 p.
|
artikel
|
| 38 |
Skewed X-Chromosome Inactivation Is Common in Fetuses or Newborns Associated with Confined Placental Mosaicism
|
Lau, Aster W.
|
|
1997
|
61 |
6 |
p. 1353-1361
9 p.
|
artikel
|
| 39 |
Spectrum of Mutations in the RPGR Gene That Are Identified in 20% of Families with X-Linked Retinitis Pigmentosa
|
Buraczynska, Monika
|
|
1997
|
61 |
6 |
p. 1287-1292
6 p.
|
artikel
|
| 40 |
Splicing Defects in the COL3A1 Gene: Marked Preference for 5′ (Donor) Splice-Site Mutations in Patients with Exon-Skipping Mutations and Ehlers-Danlos Syndrome Type IV
|
Schwarze, Ulrike
|
|
1997
|
61 |
6 |
p. 1276-1286
11 p.
|
artikel
|
| 41 |
Subject Index for Volume 61
|
|
|
1997
|
61 |
6 |
p. 1482-1489
8 p.
|
artikel
|
| 42 |
The Frequency of the Methylenetetrahydrofolate Reductase–Gene Mutation Varies with Age in the Normal Population
|
Matsushita, Sachio
|
|
1997
|
61 |
6 |
p. 1459-1460
2 p.
|
artikel
|
| 43 |
This Month in the Journal
|
Ashkenas, John
|
|
1997
|
61 |
6 |
p. i-ii
nvt p.
|
artikel
|
| 44 |
Use of a Quantitative Trait to Map a Locus Associated with Severity of Positive Symptoms in Familial Schizophrenia to Chromosome 6p
|
Brzustowicz, L.M.
|
|
1997
|
61 |
6 |
p. 1388-1396
9 p.
|
artikel
|
| 45 |
Variable Levels of a Heteroplasmic Point Mutation in Individual Hair Roots
|
Bendall, Kate E.
|
|
1997
|
61 |
6 |
p. 1303-1308
6 p.
|
artikel
|
Tijdschrift beschrijving