| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Additional Copies of the Proteolipid Protein Gene Causing Pelizaeus-Merzbacher Disease Arise by Separate Integration into the X Chromosome
|
Hodes, M.E.
|
|
2000
|
67 |
1 |
p. 14-22
9 p.
|
artikel
|
| 2 |
A Genomic Scan of Families with Prostate Cancer Identifies Multiple Regions of Interest
|
Gibbs, Mark
|
|
2000
|
67 |
1 |
p. 100-109
10 p.
|
artikel
|
| 3 |
Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus (AGS1) on Chromosome 3p21
|
Crow, Y.J.
|
|
2000
|
67 |
1 |
p. 213-221
9 p.
|
artikel
|
| 4 |
A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene
|
Mersiyanova, Irina V.
|
|
2000
|
67 |
1 |
p. 37-46
10 p.
|
artikel
|
| 5 |
Announcements1 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, Emory University School of Medicine, 1462 Clifton Road, Room B28, Atlanta, GA 30322-3050; fax them to (404) 712-9984; or send via E-mail toajhg@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.
|
|
|
2000
|
67 |
1 |
p. 267-269
3 p.
|
artikel
|
| 6 |
A Short Tandem Repeat–Based Phylogeny for the Human Y Chromosome
|
Forster, Peter
|
|
2000
|
67 |
1 |
p. 182-196
15 p.
|
artikel
|
| 7 |
Association Mapping in Structured Populations
|
Pritchard, Jonathan K.
|
|
2000
|
67 |
1 |
p. 170-181
12 p.
|
artikel
|
| 8 |
A Test for Linkage and Association in General Pedigrees: The Pedigree Disequilibrium Test
|
Martin, Eden R.
|
|
2000
|
67 |
1 |
p. 146-154
9 p.
|
artikel
|
| 9 |
Axonal Charcot-Marie-Tooth Disease and the Neurofilament Light Gene (NF-L)
|
Lupski, James R.
|
|
2000
|
67 |
1 |
p. 8-10
3 p.
|
artikel
|
| 10 |
Bayesian Fine-Scale Mapping of Disease Loci, by Hidden Markov Models
|
Morris, A.P.
|
|
2000
|
67 |
1 |
p. 155-169
15 p.
|
artikel
|
| 11 |
Breaking Away from Home
|
Hudson, Lynn D.
|
|
2000
|
67 |
1 |
p. 1-3
3 p.
|
artikel
|
| 12 |
Comparison of Tests for Association and Linkage in Incomplete Families
|
Cervino, A.C.L.
|
|
2000
|
67 |
1 |
p. 120-132
13 p.
|
artikel
|
| 13 |
Data Mining Applied to Linkage Disequilibrium Mapping
|
Toivonen, Hannu T.T.
|
|
2000
|
67 |
1 |
p. 133-145
13 p.
|
artikel
|
| 14 |
Elastic-Fiber Pathologies: Primary Defects in Assembly—and Secondary Disorders in Transport and Delivery
|
Urbán, Zsolt
|
|
2000
|
67 |
1 |
p. 4-7
4 p.
|
artikel
|
| 15 |
Erratum
|
|
|
2000
|
67 |
1 |
p. 270-
1 p.
|
artikel
|
| 16 |
Erratum
|
|
|
2000
|
67 |
1 |
p. 270-
1 p.
|
artikel
|
| 17 |
Evidence for a Prostate Cancer–Susceptibility Locus on Chromosome 20
|
Berry, Rebecca
|
|
2000
|
67 |
1 |
p. 82-91
10 p.
|
artikel
|
| 18 |
Genes, Peoples, and Languages. By Luigi Luca Cavalli-Sforza. New York: Farrar, Straus & Giroux, 2000. Pp. 224. $24.00 (hardcover).
|
Barbujani, Guido
|
|
2000
|
67 |
1 |
p. 264-266
3 p.
|
artikel
|
| 19 |
Genomewide Scan for Prostate Cancer–Aggressiveness Loci
|
Witte, John S.
|
|
2000
|
67 |
1 |
p. 92-99
8 p.
|
artikel
|
| 20 |
High Incidence of Propionic Acidemia in Greenland Is Due to a Prevalent Mutation, 1540insCCC, in the Gene for the β-Subunit of Propionyl CoA Carboxylase
|
Ravn, Kirstine
|
|
2000
|
67 |
1 |
p. 203-206
4 p.
|
artikel
|
| 21 |
Impaired Elastic-Fiber Assembly by Fibroblasts from Patients with Either Morquio B Disease or Infantile GM1-Gangliosidosis Is Linked to Deficiency in the 67-kD Spliced Variant of β-Galactosidase
|
Hinek, Aleksander
|
|
2000
|
67 |
1 |
p. 23-36
14 p.
|
artikel
|
| 22 |
Inflated False-Positive Rates in Hardy-Weinberg and Linkage-Equilibrium Tests Are Due to Sampling on the Basis of Rare Familial Phenotypes in Finite Populations
|
Terwilliger, Joseph D.
|
|
2000
|
67 |
1 |
p. 258-259
2 p.
|
artikel
|
| 23 |
Interpretation of Linkage Data for a Huntington-Like Disorder Mapping to 4p15.3
|
Lesperance, Marci M.
|
|
2000
|
67 |
1 |
p. 262-263
2 p.
|
artikel
|
| 24 |
Localization of a Recessive Gene for North American Indian Childhood Cirrhosis to Chromosome Region 16q22—and Identification of a Shared Haplotype
|
Bétard, Christine
|
|
2000
|
67 |
1 |
p. 222-228
7 p.
|
artikel
|
| 25 |
Mapping of a New Locus for Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease to 19q13.1-13.3 in a Large Consanguineous Lebanese Family: Exclusion of MAG as a Candidate Gene
|
Delague, Valérie
|
|
2000
|
67 |
1 |
p. 236-243
8 p.
|
artikel
|
| 26 |
Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental Retardation
|
Herman-Bert, Alexandra
|
|
2000
|
67 |
1 |
p. 229-235
7 p.
|
artikel
|
| 27 |
Neurofibromatosis: Phenotype, Natural History, and Pathogenesis, 3d ed. Edited by J. M. Friedman, David H. Gutmann, Mia MacCollin, and Vincent M. Riccardi. Baltimore: Johns Hopkins Press, 1999. Pp. 380. $99.95 (hardcover only).
|
Margaret R. Wallace,
|
|
2000
|
67 |
1 |
p. 264-
1 p.
|
artikel
|
| 28 |
N-myc Downstream-Regulated Gene 1 Is Mutated in Hereditary Motor and Sensory Neuropathy–Lom
|
Kalaydjieva, Luba
|
|
2000
|
67 |
1 |
p. 47-58
12 p.
|
artikel
|
| 29 |
No Evidence for Parent of Origin Influencing Premature Ovarian Failure in Fragile X Premutation Carriers
|
Murray, Anna
|
|
2000
|
67 |
1 |
p. 253-254
2 p.
|
artikel
|
| 30 |
Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome
|
Goodman, Frances R.
|
|
2000
|
67 |
1 |
p. 197-202
6 p.
|
artikel
|
| 31 |
Premature Ovarian Failure among Fragile X Premutation Carriers: Parent-of-Origin Effect?
|
Sherman, Stephanie L.
|
|
2000
|
67 |
1 |
p. 11-13
3 p.
|
artikel
|
| 32 |
Premature Ovarian Failure Is Associated with Maternally and Paternally Inherited Premutation in Brazilian Families with Fragile X
|
Vianna-Morgante, Angela M.
|
|
2000
|
67 |
1 |
p. 254-255
2 p.
|
artikel
|
| 33 |
QTL Fine Mapping, in Extreme Samples of Finite Populations, for Complex Traits with Familial Correlation Due to Polygenes
|
Deng, Hong-Wen
|
|
2000
|
67 |
1 |
p. 259-261
3 p.
|
artikel
|
| 34 |
Reply to Deng and Chen
|
Terwilliger, Joseph D.
|
|
2000
|
67 |
1 |
p. 261-262
2 p.
|
artikel
|
| 35 |
Reply to Lesperance and Burmeister
|
Kambouris, Marios
|
|
2000
|
67 |
1 |
p. 263-
1 p.
|
artikel
|
| 36 |
Reply to the Letters from Murray et al. and Vianna-Morgante and Costa
|
Hundscheid, Rubin D.L.
|
|
2000
|
67 |
1 |
p. 256-258
3 p.
|
artikel
|
| 37 |
Segregation Analysis of Esophageal Cancer in a Moderately High–Incidence Area of Northern China
|
Zhang, Weihua
|
|
2000
|
67 |
1 |
p. 110-119
10 p.
|
artikel
|
| 38 |
Split-Hand/Split-Foot Malformation Is Caused by Mutations in the p63 Gene on 3q27
|
Ianakiev, Peter
|
|
2000
|
67 |
1 |
p. 59-66
8 p.
|
artikel
|
| 39 |
Testing Linkage Disequilibrium in Sibships
|
Siegmund, Kimberly D.
|
|
2000
|
67 |
1 |
p. 244-248
5 p.
|
artikel
|
| 40 |
Testing the Robustness of the New Haseman-Elston Quantitative-Trait Loci–Mapping Procedure
|
Allison, David B.
|
|
2000
|
67 |
1 |
p. 249-252
4 p.
|
artikel
|
| 41 |
The Exon 13 Duplication in the BRCA1 Gene Is a Founder Mutation Present in Geographically Diverse Populations
|
Mazoyer, S.
|
|
2000
|
67 |
1 |
p. 207-212
6 p.
|
artikel
|
| 42 |
This Month in the Journal
|
Beauregard, Kathryn
|
|
2000
|
67 |
1 |
p. i-ii
nvt p.
|
artikel
|
| 43 |
Two Genetic Loci Regulate T Cell–Dependent Islet Inflammation and Drive Autoimmune Diabetes Pathogenesis
|
Fox, Casey J.
|
|
2000
|
67 |
1 |
p. 67-81
15 p.
|
artikel
|
Tijdschrift beschrijving