nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A Breast Cancer Patient of Scottish Descent with Germ-Line Mutations in BRCA1 and BRCA2
|
Liede, Alexander |
|
1998 |
62 |
6 |
p. 1543-1544 2 p. |
artikel |
2 |
A Global Haplotype Analysis of the Myotonic Dystrophy Locus: Implications for the Evolution of Modern Humans and for the Origin of Myotonic Dystrophy Mutations
|
Tishkoff, S.A. |
|
1998 |
62 |
6 |
p. 1389-1402 14 p. |
artikel |
3 |
A Major Locus for Autosomal Recessive Retinitis Pigmentosa on 6q, Determined by Homozygosity Mapping of Chromosomal Regions That Contain Gamma-Aminobutyric Acid–Receptor Clusters
|
Ruiz, Agustín |
|
1998 |
62 |
6 |
p. 1452-1459 8 p. |
artikel |
4 |
Amerindian Pyruvate Carboxylase Deficiency Is Associated with Two Distinct Missense Mutations
|
Carbone, Mary Anna |
|
1998 |
62 |
6 |
p. 1312-1319 8 p. |
artikel |
5 |
A Model for Antagonistic Pleiotropic Gene Action for Mortality and Advanced Age
|
Toupance, Bruno |
|
1998 |
62 |
6 |
p. 1525-1534 10 p. |
artikel |
6 |
An Alternative Route for Multistep Tumorigenesis in a Novel Case of Hereditary Renal Cell Cancer and a t(2;3)(q35;q21) Chromosome Translocation
|
Bodmer, Daniëlle |
|
1998 |
62 |
6 |
p. 1475-1483 9 p. |
artikel |
7 |
Announcements 1 1 Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please send announcement text by E-mail to ajhg@u.washington.edu or by fax to (206) 685-9684. Please limit announcements to 150 words, excluding the address for correspondence, and indicate the name of the sponsoring ASHG member. Announcements will be posted on the electronic edition of the Journal within a week of receipt. For the print edition, submissions must be received 5 weeks before the month of the issue in which publication is requested.
|
|
|
1998 |
62 |
6 |
p. 1563-1564 2 p. |
artikel |
8 |
A Triplet Repeat on 17q Accounts for Most Expansions Detected by the Repeat-Expansion–Detection Technique
|
Sidransky, Ellen |
|
1998 |
62 |
6 |
p. 1548-1551 4 p. |
artikel |
9 |
Author Index for Volume 62
|
|
|
1998 |
62 |
6 |
p. 1565-1574 10 p. |
artikel |
10 |
Classification of Familial Adenomatous Polyposis: A Diagnostic Nightmare
|
Lynch, Henry T. |
|
1998 |
62 |
6 |
p. 1288-1289 2 p. |
artikel |
11 |
Cytosine Methylation and the Unequal Developmental Potentials of the Oocyte and Sperm Genomes
|
Bestor, Timothy H. |
|
1998 |
62 |
6 |
p. 1269-1273 5 p. |
artikel |
12 |
Dating the Origin of the CCR5-Δ32 AIDS-Resistance Allele by the Coalescence of Haplotypes
|
Stephens, J. Claiborne |
|
1998 |
62 |
6 |
p. 1507-1515 9 p. |
artikel |
13 |
Difficulties in the Estimation of Ethnic Affiliation
|
Brenner, Charles H. |
|
1998 |
62 |
6 |
p. 1558-1560 3 p. |
artikel |
14 |
Discriminating between True and False-Positive Peaks in a Genomewide Linkage Scan, by Use of the Peak Length
|
Knapp, Michael |
|
1998 |
62 |
6 |
p. 1561-1562 2 p. |
artikel |
15 |
Evidence for Autosomal Dominant Inheritance of Prostate Cancer
|
Schaid, Daniel J. |
|
1998 |
62 |
6 |
p. 1425-1438 14 p. |
artikel |
16 |
Evidence of Founder Mutations in Finnish BRCA1 and BRCA2 Families
|
Huusko, Pia |
|
1998 |
62 |
6 |
p. 1544-1548 5 p. |
artikel |
17 |
Familial Skewed X Inactivation and X-Linked Mutations: Unbalanced X Inactivation is a Powerful Means to Ascertain X-Linked Genes That Affect Cell Proliferation
|
Migeon, Barbara R. |
|
1998 |
62 |
6 |
p. 1555-1557 3 p. |
artikel |
18 |
Genetic Analysis of Meiotic Recombination in Humans by Use of Sperm Typing: Reduced Recombination within a Heterozygous Paracentric Inversion of Chromosome 9q32-q34.3
|
Brown, Graeme M. |
|
1998 |
62 |
6 |
p. 1484-1492 9 p. |
artikel |
19 |
Genetic Causes of Female Infertility: Targeted Mutagenesis in Mice
|
Greenhouse, Stephen |
|
1998 |
62 |
6 |
p. 1282-1287 6 p. |
artikel |
20 |
Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST and FGFR Mutations
|
Paznekas, William A. |
|
1998 |
62 |
6 |
p. 1370-1380 11 p. |
artikel |
21 |
Genetic Mapping of Ossification of the Posterior Longitudinal Ligament of the Spine
|
Koga, Hiroaki |
|
1998 |
62 |
6 |
p. 1460-1467 8 p. |
artikel |
22 |
Genotype-Phenotype Correlations in Attenuated Adenomatous Polyposis Coli
|
Soravia, Claudio |
|
1998 |
62 |
6 |
p. 1290-1301 12 p. |
artikel |
23 |
Haplotype and Phenotype Analysis of Nine Recurrent BRCA2 Mutations in 111 Families: Results of an International Study
|
Neuhausen, Susan L. |
|
1998 |
62 |
6 |
p. 1381-1388 8 p. |
artikel |
24 |
Haplotype Mapping of a Major Quantitative-Trait Locus for Fetal Hemoglobin Production, on Chromosome 6q23
|
Garner, C. |
|
1998 |
62 |
6 |
p. 1468-1474 7 p. |
artikel |
25 |
Hyperphenylalaninemia with High Levels of 7-Biopterin is Associated with Mutations in the PCBD Gene Encoding the Bifunctional Protein Pterin-4a-Carbinolamine Dehydratase and Transcriptional Coactivator (DCoH)
|
Thöny, Beat |
|
1998 |
62 |
6 |
p. 1302-1311 10 p. |
artikel |
26 |
Identification of a New Locus for a Peculiar Form of Congenital Muscular Dystrophy with Early Rigidity of the Spine, on Chromosome 1p35-36
|
Moghadaszadeh, Behzad |
|
1998 |
62 |
6 |
p. 1439-1445 7 p. |
artikel |
27 |
Identification of Cryptic Rearrangements in Patients with 18q− Deletion Syndrome
|
Brkanac, Zoran |
|
1998 |
62 |
6 |
p. 1500-1506 7 p. |
artikel |
28 |
Linkage of Familial Hibernian Fever to Chromosome 12p13
|
McDermott, Michael F. |
|
1998 |
62 |
6 |
p. 1446-1451 6 p. |
artikel |
29 |
Male Infertility and the Genetics of Spermatogenesis
|
Okabe, Masaru |
|
1998 |
62 |
6 |
p. 1274-1281 8 p. |
artikel |
30 |
Missense Mutations in Disease Genes: A Bayesian Approach to Evaluate Causality
|
Petersen, Gloria M. |
|
1998 |
62 |
6 |
p. 1516-1524 9 p. |
artikel |
31 |
Mutation Analysis of UBE3A in Angelman Syndrome Patients
|
Malzac, Perrine |
|
1998 |
62 |
6 |
p. 1353-1360 8 p. |
artikel |
32 |
Mutation Rate in Human Microsatellites: Influence of the Structure and Length of the Tandem Repeat
|
Brinkmann, Bernd |
|
1998 |
62 |
6 |
p. 1408-1415 8 p. |
artikel |
33 |
Novel Molecular Variants of the Na-K-2Cl Cotransporter Gene Are Responsible for Antenatal Bartter Syndrome
|
Vargas-Poussou, Rosa |
|
1998 |
62 |
6 |
p. 1332-1340 9 p. |
artikel |
34 |
Parental Origin–Dependent, Male Offspring–Specific Transmission-Ratio Distortion at Loci on the Human X Chromosome
|
Naumova, A.K. |
|
1998 |
62 |
6 |
p. 1493-1499 7 p. |
artikel |
35 |
Paternal Isodisomy of Chromosome 7 Associated with Complete Situs Inversus and Immotile Cilia
|
Pan, Yanzhen |
|
1998 |
62 |
6 |
p. 1551-1555 5 p. |
artikel |
36 |
Phosphomannose Isomerase Deficiency: A Carbohydrate-Deficient Glycoprotein Syndrome with Hepatic-Intestinal Presentation
|
Jaeken, Jaak |
|
1998 |
62 |
6 |
p. 1535-1539 5 p. |
artikel |
37 |
Predisposing Gene for Early-Onset Prostate Cancer, Localized on Chromosome 1q42.2-43
|
Berthon, Philippe |
|
1998 |
62 |
6 |
p. 1416-1424 9 p. |
artikel |
38 |
Reply to Brenner
|
Shriver, Mark D. |
|
1998 |
62 |
6 |
p. 1560-1561 2 p. |
artikel |
39 |
Reply to Migeon and Haisley-Royster
|
Hoffman, Eric |
|
1998 |
62 |
6 |
p. 1557-1558 2 p. |
artikel |
40 |
Spectrum and Frequency of Jagged1 (JAG1) Mutations in Alagille Syndrome Patients and Their Families
|
Krantz, Ian D. |
|
1998 |
62 |
6 |
p. 1361-1369 9 p. |
artikel |
41 |
Subject Index for Volume 62
|
|
|
1998 |
62 |
6 |
p. 1575-1583 9 p. |
artikel |
42 |
Systematic Analysis of Molecular Defects in the Ferrochelatase Gene from Patients with Erythropoietic Protoporphyria
|
Rüfenacht, U.B. |
|
1998 |
62 |
6 |
p. 1341-1352 12 p. |
artikel |
43 |
Temperature-Sensitive Phenotypes of Peroxisome-Assembly Processes Represent the Milder Forms of Human Peroxisome-Biogenesis Disorders
|
Imamura, Atsushi |
|
1998 |
62 |
6 |
p. 1539-1543 5 p. |
artikel |
44 |
The Hemochromatosis 845 G→A and 187 C→G Mutations: Prevalence in Non-Caucasian Populations
|
Cullen, Lara M. |
|
1998 |
62 |
6 |
p. 1403-1407 5 p. |
artikel |
45 |
This Month in the Journal
|
Ashkenas, John |
|
1998 |
62 |
6 |
p. i-ii nvt p. |
artikel |
46 |
X-Linked Chronic Granulomatous Disease: Mutations in the CYBB Gene Encoding the gp91-phox Component of Respiratory-Burst Oxidase
|
Rae, Julie |
|
1998 |
62 |
6 |
p. 1320-1331 12 p. |
artikel |