| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Analysis of Alkaptonuria (AKU) Mutations and Polymorphisms Reveals that the CCC Sequence Motif Is a Mutational Hot Spot in the Homogentisate 1,2 Dioxygenase Gene ( HGO )
|
Beltrán-Valero de Bernabé, D.
|
|
1999
|
64 |
5 |
p. 1316-1322
7 p.
|
artikel
|
| 2 |
A New Locus for Autosomal Dominant Stargardt-Like Disease Maps to Chromosome 4
|
Kniazeva, Marina
|
|
1999
|
64 |
5 |
p. 1394-1399
6 p.
|
artikel
|
| 3 |
An mtDNA Mutation in the Initiation Codon of the Cytochrome C Oxidase Subunit II Gene Results in Lower Levels of the Protein and a Mitochondrial Encephalomyopathy
|
Clark, Kim M.
|
|
1999
|
64 |
5 |
p. 1330-1339
10 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 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.
|
|
|
1999
|
64 |
5 |
p. 1489-1490
2 p.
|
artikel
|
| 5 |
A Program for the Monte Carlo Evaluation of Significance of the Extended Transmission/Disequilibrium Test
|
Zhao, Jing Hua
|
|
1999
|
64 |
5 |
p. 1484-1485
2 p.
|
artikel
|
| 6 |
A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1-p32
|
Varret, Mathilde
|
|
1999
|
64 |
5 |
p. 1378-1387
10 p.
|
artikel
|
| 7 |
A Worldwide Assessment of the Frequency of Suicide, Suicide Attempts, or Psychiatric Hospitalization after Predictive Testing for Huntington Disease
|
Almqvist, Elisabeth W.
|
|
1999
|
64 |
5 |
p. 1293-1304
12 p.
|
artikel
|
| 8 |
Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous Sclerosis
|
Jones, Alistair C.
|
|
1999
|
64 |
5 |
p. 1305-1315
11 p.
|
artikel
|
| 9 |
Connexin46 Mutations in Autosomal Dominant Congenital Cataract
|
Mackay, Donna
|
|
1999
|
64 |
5 |
p. 1357-1364
8 p.
|
artikel
|
| 10 |
DNA Transfer to Cultured Cells
|
Davidson, Beverly L.
|
|
1999
|
64 |
5 |
p. 1488-
1 p.
|
artikel
|
| 11 |
Dominant Hereditary Inclusion-Body Myopathy Gene (IBM3) Maps to Chromosome Region 17p13.1
|
Martinsson, Tommy
|
|
1999
|
64 |
5 |
p. 1420-1426
7 p.
|
artikel
|
| 12 |
Errata
|
|
|
1999
|
64 |
5 |
p. 1491-
1 p.
|
artikel
|
| 13 |
Errata
|
|
|
1999
|
64 |
5 |
p. 1491-
1 p.
|
artikel
|
| 14 |
Evidence for Effective Suppression of Recombination in the Chromosome 17q21 Segment Spanning RNU2–BRCA1
|
Liu, Xudong
|
|
1999
|
64 |
5 |
p. 1427-1439
13 p.
|
artikel
|
| 15 |
Evidence for Linkage of Adolescent-Onset Idiopathic Generalized Epilepsies to Chromosome 8—and Genetic Heterogeneity
|
Durner, Martina
|
|
1999
|
64 |
5 |
p. 1411-1419
9 p.
|
artikel
|
| 16 |
Genomewide Scan for Familial Combined Hyperlipidemia Genes in Finnish Families, Suggesting Multiple Susceptibility Loci Influencing Triglyceride, Cholesterol, and Apolipoprotein B Levels
|
Pajukanta, Päivi
|
|
1999
|
64 |
5 |
p. 1453-1463
11 p.
|
artikel
|
| 17 |
Genomewide Transmission/Disequilibrium Testing: A Correction
|
Camp, Nicola J.
|
|
1999
|
64 |
5 |
p. 1485-1486
2 p.
|
artikel
|
| 18 |
Heterogeneous X Inactivation in Trophoblastic Cells of Human Full-Term Female Placentas
|
Looijenga, Leendert H.J.
|
|
1999
|
64 |
5 |
p. 1445-1452
8 p.
|
artikel
|
| 19 |
Identification of a Genetic Defect in the Hairless Gene in Atrichia with Papular Lesions: Evidence for Phenotypic Heterogeneity among Inherited Atrichias
|
Sprecher, Eli
|
|
1999
|
64 |
5 |
p. 1323-1329
7 p.
|
artikel
|
| 20 |
Immunoglobulin Class Switch Recombination: Will Genetics Provide New Clues to Mechanism?
|
Maizels, Nancy
|
|
1999
|
64 |
5 |
p. 1270-1275
6 p.
|
artikel
|
| 21 |
Juvenile Hemochromatosis Locus Maps to Chromosome 1q
|
Roetto, A.
|
|
1999
|
64 |
5 |
p. 1388-1393
6 p.
|
artikel
|
| 22 |
Localization of a Gene for Bitter-Taste Perception to Human Chromosome 5p15
|
Reed, Danielle R.
|
|
1999
|
64 |
5 |
p. 1478-1480
3 p.
|
artikel
|
| 23 |
Modification of BRCA1-Associated Breast Cancer Risk by the Polymorphic Androgen-Receptor CAG Repeat
|
Rebbeck, Timothy R.
|
|
1999
|
64 |
5 |
p. 1371-1377
7 p.
|
artikel
|
| 24 |
Mutation Rate in Human Microsatellites
|
Henke, Jürgen
|
|
1999
|
64 |
5 |
p. 1473-
1 p.
|
artikel
|
| 25 |
New Editor of The American Journal of Human Genetics
|
|
|
1999
|
64 |
5 |
p. 1492-
1 p.
|
artikel
|
| 26 |
Outrageous Fortune: The Risk of Suicide in Genetic Testing for Huntington Disease
|
Bird, Thomas D.
|
|
1999
|
64 |
5 |
p. 1289-1292
4 p.
|
artikel
|
| 27 |
Poly(ADP-Ribose) Polymerase in the Cellular Response to DNA Damage, Apoptosis, and Disease
|
Oliver, F. Javier
|
|
1999
|
64 |
5 |
p. 1282-1288
7 p.
|
artikel
|
| 28 |
Quantitative Analysis of Survival Motor Neuron Copies: Identification of Subtle SMN1 Mutations in Patients with Spinal Muscular Atrophy, Genotype-Phenotype Correlation, and Implications for Genetic Counseling
|
Wirth, Brunhilde
|
|
1999
|
64 |
5 |
p. 1340-1356
17 p.
|
artikel
|
| 29 |
Recurrent Williams-Beuren Syndrome in a Sibship Suggestive of Maternal Germ-Line Mosaicism
|
Kara-Mostefa, Ali
|
|
1999
|
64 |
5 |
p. 1475-1478
4 p.
|
artikel
|
| 30 |
Relationship Estimation by Markov-Process Models in a Sib-Pair Linkage Study
|
Olson, Jane M.
|
|
1999
|
64 |
5 |
p. 1464-1472
9 p.
|
artikel
|
| 31 |
Repair of mtDNA in Vertebrates
|
Bogenhagen, Daniel F.
|
|
1999
|
64 |
5 |
p. 1276-1281
6 p.
|
artikel
|
| 32 |
Reply to Henke and Henke
|
Rolf, B.
|
|
1999
|
64 |
5 |
p. 1473-1474
2 p.
|
artikel
|
| 33 |
Sperm Chromosome Analysis in a Man Heterozygous for a Paracentric Inversion of Chromosome 14 (q24.1q32.1)
|
Martin, R.H.
|
|
1999
|
64 |
5 |
p. 1480-1484
5 p.
|
artikel
|
| 34 |
The Critical Region for Behçet Disease in the Human Major Histocompatibility Complex Is Reduced to a 46-kb Segment Centromeric of HLA-B, by Association Analysis Using Refined Microsatellite Mapping
|
Ota, Masao
|
|
1999
|
64 |
5 |
p. 1406-1410
5 p.
|
artikel
|
| 35 |
The Fanconi Anemia Group E Gene, FANCE, Maps to Chromosome 6p
|
Waisfisz, Quinten
|
|
1999
|
64 |
5 |
p. 1400-1405
6 p.
|
artikel
|
| 36 |
The Mammalian Mre11-Rad50-Nbs1 Protein Complex: Integration of Functions in the Cellular DNA–Damage Response
|
Petrini, John H.J.
|
|
1999
|
64 |
5 |
p. 1264-1269
6 p.
|
artikel
|
| 37 |
The Promoters of the Survival Motor Neuron Gene (SMN) and Its Copy (SMNc) Share Common Regulatory Elements
|
Echaniz-Laguna, Andoni
|
|
1999
|
64 |
5 |
p. 1365-1370
6 p.
|
artikel
|
| 38 |
This Month in the Journal
|
Ashkenas, John
|
|
1999
|
64 |
5 |
p. i-ii
nvt p.
|
artikel
|
| 39 |
Transcription-Coupled Repair of DNA Damage: Unanticipated Players, Unexpected Complexities
|
Leadon, Steven A.
|
|
1999
|
64 |
5 |
p. 1259-1263
5 p.
|
artikel
|
| 40 |
Transmission of a Fully Functional Human Neocentromere through Three Generations
|
Tyler-Smith, Chris
|
|
1999
|
64 |
5 |
p. 1440-1444
5 p.
|
artikel
|
Tijdschrift beschrijving