| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Absence of Mutations Raises Doubts about the Role of the 70-kD Peroxisomal Membrane Protein in Zellweger Syndrome
|
PATON, BARBARA C.
|
|
1997
|
60 |
6 |
p. 1535-1539
5 p.
|
artikel
|
| 2 |
A Common mtDNA Polymorphism Associated with Variation in Plasma Triglyceride Concentration
|
HEGELE, ROBERT A.
|
|
1997
|
60 |
6 |
p. 1552-1555
4 p.
|
artikel
|
| 3 |
A Mutation in the MTM1 Gene Invalidates a Previous Suggestion of Nonallelic Heterogeneity in X-Linked Myotubular Myopathy
|
GUIRAUD-CHAUMEIL, C.
|
|
1997
|
60 |
6 |
p. 1542-1544
3 p.
|
artikel
|
| 4 |
A New Locus for Dominant “Zonular Pulverulent” Cataract, on Chromosome 13
|
Mackay, Donna
|
|
1997
|
60 |
6 |
p. 1474-1478
5 p.
|
artikel
|
| 5 |
Announcements
|
|
|
1997
|
60 |
6 |
p. 1569-1570
2 p.
|
artikel
|
| 6 |
A Rare Branch-Point Mutation Is Associated with Missplicing of Fibrillin-2 in a Large Family with Congenital Contractural Arachnodactyly
|
Maslen, Cheryl
|
|
1997
|
60 |
6 |
p. 1389-1398
10 p.
|
artikel
|
| 7 |
Author Index for Volume 60
|
|
|
1997
|
60 |
6 |
p. 1572-1579
8 p.
|
artikel
|
| 8 |
Bilateral Retinoblastoma in a Male Patient with an X;13 Translocation: Evidence for Silencing of the RB1 Gene by the Spreading of X Inactivation
|
JONES, CARRIE
|
|
1997
|
60 |
6 |
p. 1558-1562
5 p.
|
artikel
|
| 9 |
Characterization of FMR1 Promoter Elements by In Vivo-Footprinting Analysis
|
Schwemmle, Sabine
|
|
1997
|
60 |
6 |
p. 1354-1362
9 p.
|
artikel
|
| 10 |
Chromosome Abnormalities and Genetic Counseling
|
Schinzel, Albert
|
|
1997
|
60 |
6 |
p. 1567-1568
2 p.
|
artikel
|
| 11 |
Detection of an Atypical 22q11 Deletion That Has No Overlap with the DiGeorge Syndrome Critical Region
|
O'DONNELL, HILARY
|
|
1997
|
60 |
6 |
p. 1544-1548
5 p.
|
artikel
|
| 12 |
Disease Relevance of the So-Called Secondary Leber Hereditary Optic Neuropathy Mutations
|
HOFMANN, SABINE
|
|
1997
|
60 |
6 |
p. 1539-1542
4 p.
|
artikel
|
| 13 |
Erratum
|
|
|
1997
|
60 |
6 |
p. 1571-
1 p.
|
artikel
|
| 14 |
Expression of Genes from the Human Active and Inactive X Chromosomes
|
Brown, Carolyn J.
|
|
1997
|
60 |
6 |
p. 1333-1343
11 p.
|
artikel
|
| 15 |
Fine-Scale Genetic Mapping Based on Linkage Disequilibrium: Theory and Applications
|
Xiong, Momiao
|
|
1997
|
60 |
6 |
p. 1513-1531
19 p.
|
artikel
|
| 16 |
Functional and Structural Features of a Tandem Duplication of the Human mtDNA Promoter Region
|
Hao, Huiling
|
|
1997
|
60 |
6 |
p. 1363-1372
10 p.
|
artikel
|
| 17 |
Gene Therapy: A Primer for Physicians
|
Kozarsky, Karen
|
|
1997
|
60 |
6 |
p. 1566-1567
2 p.
|
artikel
|
| 18 |
Genetic Influences in Childhood-Onset Psychiatric Disorders: Autism and Attention-Deficit/Hyperactivity Disorder
|
Smalley, Susan L.
|
|
1997
|
60 |
6 |
p. 1276-1282
7 p.
|
artikel
|
| 19 |
Genetic Mapping Using Microcell-Mediated Chromosome Transfer Suggests a Locus for Nijmegen Breakage Syndrome at Chromosome 8q21-24
|
Matsuura, Shinya
|
|
1997
|
60 |
6 |
p. 1487-1494
8 p.
|
artikel
|
| 20 |
Genetics of Narcolepsy and Other Sleep Disorders
|
Mignot, Emmanuel
|
|
1997
|
60 |
6 |
p. 1289-1302
14 p.
|
artikel
|
| 21 |
Genetic Variation and Human Disease: Principles and Evolutionary Approaches
|
Terwilliger, Joseph D.
|
|
1997
|
60 |
6 |
p. 1565-1566
2 p.
|
artikel
|
| 22 |
Haplotype Analysis of Hemochromatosis: Evaluation of Different Linkage-Disequilibrium Approaches and Evolution of Disease Chromosomes
|
Ajioka, Richard S.
|
|
1997
|
60 |
6 |
p. 1439-1447
9 p.
|
artikel
|
| 23 |
Haplotype and Mutation Analysis in Japanese Patients with Wilson Disease
|
Nanji, Manoj S.
|
|
1997
|
60 |
6 |
p. 1423-1429
7 p.
|
artikel
|
| 24 |
Haplotypes of Angiotensinogen in Essential Hypertension
|
Jeunemaitre, Xavier
|
|
1997
|
60 |
6 |
p. 1448-1460
13 p.
|
artikel
|
| 25 |
Heritability of Longitudinal Changes in Coronary-Heart-Disease Risk Factors in Women Twins
|
Friedlander, Yechiel
|
|
1997
|
60 |
6 |
p. 1502-1512
11 p.
|
artikel
|
| 26 |
Identification of Mutations in the Duplicated Region of the Polycystic Kidney Disease 1 Gene (PKD1) by a Novel Approach
|
Peral, Belén
|
|
1997
|
60 |
6 |
p. 1399-1410
12 p.
|
artikel
|
| 27 |
Identification of Proximal Spinal Muscular Atrophy Carriers and Patients by Analysis of SMNT and SMNC Gene Copy Number
|
McAndrew, P.E.
|
|
1997
|
60 |
6 |
p. 1411-1422
12 p.
|
artikel
|
| 28 |
Intracellular Mitochondrial Triplasmy in a Patient with Two Heteroplasmic Base Changes
|
Bidooki, S.K.
|
|
1997
|
60 |
6 |
p. 1430-1438
9 p.
|
artikel
|
| 29 |
Life as We Know It: A Father, a Family, and an Exceptional Child
|
Sybert, Virginia P.
|
|
1997
|
60 |
6 |
p. 1567-
1 p.
|
artikel
|
| 30 |
Linkage Disequilibrium between the Spinocerebellar Ataxia 3/Machado-Joseph Disease Mutation and Two Intragenic Polymorphisms, One of Which, X359Y, Affects the Stop Codon
|
STEVANIN, GIOVANNI
|
|
1997
|
60 |
6 |
p. 1548-1552
5 p.
|
artikel
|
| 31 |
Linkage of a Gene Causing High Bone Mass to Human Chromosome 11 (11q12-13)
|
Johnson, Mark L.
|
|
1997
|
60 |
6 |
p. 1326-1332
7 p.
|
artikel
|
| 32 |
Localization of a Novel X-Linked Progressive Cone Dystrophy Gene to Xq27: Evidence for Genetic Heterogeneity
|
Bergen, A.A.B.
|
|
1997
|
60 |
6 |
p. 1468-1473
6 p.
|
artikel
|
| 33 |
Lysinuric Protein Intolerance (LPI) Gene Maps to the Long Arm of Chromosome 14
|
Lauteala, Tuija
|
|
1997
|
60 |
6 |
p. 1479-1486
8 p.
|
artikel
|
| 34 |
Malignant-Hyperthermia Susceptibility Is Associated with a Mutation of the a1-Subunit of the Human Dihydropyridine-Sensitive L-Type Voltage-Dependent Calcium-Channel Receptor in Skeletal Muscle
|
Monnier, Nicole
|
|
1997
|
60 |
6 |
p. 1316-1325
10 p.
|
artikel
|
| 35 |
Meiotic Drive at the Myotonic Dystrophy and the Cone-Rod Dystrophy Loci on Chromosome 19q13.3
|
INGLEHEARN, CHRIS F.
|
|
1997
|
60 |
6 |
p. 1562-1563
2 p.
|
artikel
|
| 36 |
Molecular Biology Made Simple and Fun
|
Ashkenas, John
|
|
1997
|
60 |
6 |
p. 1568-
1 p.
|
artikel
|
| 37 |
Molecular Epidemiology and Diagnosis of PBG Deaminase Gene Defects in Acute Intermittent Porphyria
|
Puy, H.
|
|
1997
|
60 |
6 |
p. 1373-1383
11 p.
|
artikel
|
| 38 |
Mouse Genetics
|
Barsh, Gregory S.
|
|
1997
|
60 |
6 |
p. 1564-1565
2 p.
|
artikel
|
| 39 |
Recent Developments in Human Behavioral Genetics: Past Accomplishments and Future Directions
|
Sherman, Stephanie L.
|
|
1997
|
60 |
6 |
p. 1265-1275
11 p.
|
artikel
|
| 40 |
Searching for Gene Defects That Cause High Bone Mass
|
Whyte, Michael P.
|
|
1997
|
60 |
6 |
p. 1309-1311
3 p.
|
artikel
|
| 41 |
Skewed Segregation of the mtDNA nt 8993 (TrG) Mutation in Human Oocytes
|
Blok, Rozanne B.
|
|
1997
|
60 |
6 |
p. 1495-1501
7 p.
|
artikel
|
| 42 |
Spectrum of Mutations in the OCRL1Gene in the Lowe Oculocerebrorenal Syndrome
|
Lin, Ti
|
|
1997
|
60 |
6 |
p. 1384-1388
5 p.
|
artikel
|
| 43 |
Subject Index for Volume 60
|
|
|
1997
|
60 |
6 |
p. 1580-1588
9 p.
|
artikel
|
| 44 |
The Great Escape
|
Disteche, Christine M.
|
|
1997
|
60 |
6 |
p. 1312-1315
4 p.
|
artikel
|
| 45 |
The Val985Met Insulin-Receptor Variant in the Danish Caucasian Population: Lack of Associations with Non—Insulin-Dependent Diabetes Mellitus or Insulin Resistance
|
Hansen, Lars
|
|
1997
|
60 |
6 |
p. 1532-1535
4 p.
|
artikel
|
| 46 |
This Month in the Journal
|
ASHKENAS, JOHN
|
|
1997
|
60 |
6 |
p. i-ii
nvt p.
|
artikel
|
| 47 |
Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa
|
Schumann, Hauke
|
|
1997
|
60 |
6 |
p. 1344-1353
10 p.
|
artikel
|
| 48 |
To Fire the Train: A Second Malignant-Hyperthermia Gene
|
Hogan, Kirk
|
|
1997
|
60 |
6 |
p. 1303-1308
6 p.
|
artikel
|
| 49 |
Understanding the Genetic Basis of Mood Disorders: Where Do We Stand?
|
Reus, Victor I.
|
|
1997
|
60 |
6 |
p. 1283-1288
6 p.
|
artikel
|
| 50 |
Up-Regulation of the Brain and Purkinje-Cell Forms of Dystrophin Transcripts, in Becker Muscular Dystrophy
|
NAKAMURA, AKINORI
|
|
1997
|
60 |
6 |
p. 1555-1558
4 p.
|
artikel
|
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