| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Age and Origin of the PRNP E200K Mutation Causing Familial Creutzfeldt-Jacob Disease in Libyan Jews
|
Colombo, Roberto
|
|
2000
|
67 |
2 |
p. 528-531
4 p.
|
artikel
|
| 2 |
All LODs Are Not Created Equal * * A Microsoft Excel spreadsheet, for performing easy calculations of P values for the LOD scores described in this review, is available on request from the author.
|
Nyholt, Dale R.
|
|
2000
|
67 |
2 |
p. 282-288
7 p.
|
artikel
|
| 3 |
A New Locus for Autosomal Recessive Spastic Paraplegia Associated with Mental Retardation and Distal Motor Neuropathy, SPG14, Maps to Chromosome 3q27-q28
|
Vazza, G.
|
|
2000
|
67 |
2 |
p. 504-509
6 p.
|
artikel
|
| 4 |
A New Locus on Chromosome 12p13.3 for Pseudohypoaldosteronism Type II, an Autosomal Dominant Form of Hypertension
|
Disse-Nicodème, Sandra
|
|
2000
|
67 |
2 |
p. 302-310
9 p.
|
artikel
|
| 5 |
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, 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 to ajhg@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 |
2 |
p. 538-540
3 p.
|
artikel
|
| 6 |
An Optimized Set of Human Telomere Clones for Studying Telomere Integrity and Architecture
|
Knight, Samantha J.L.
|
|
2000
|
67 |
2 |
p. 320-332
13 p.
|
artikel
|
| 7 |
Another Look Back
|
Jenkins, Trefor
|
|
2000
|
67 |
2 |
p. 527-
1 p.
|
artikel
|
| 8 |
A Sensitive Denaturing Gradient-Gel Electrophoresis Assay Reveals a High Frequency of Heteroplasmy in Hypervariable Region 1 of the Human mtDNA Control Region * * Disclaimer: The opinions and assertions expressed herein are solely those of the authors and are not to be construed as official or the views of the United States Department of Defense, the United States Department of the Army, or the United States Department of Commerce. This paper is a contribution of the United States National Institute of Standards and Technology (NIST) and the United States Department of Defense and is not subject to copyright. Certain commercial equipment, instruments, or companies are identified in this paper to specify the experimental procedure. Such identification does not imply recommendation or endorsement by the government, nor does it imply that the materials or equipment identified are the best available for this purpose.
|
Tully, Lois A.
|
|
2000
|
67 |
2 |
p. 432-443
12 p.
|
artikel
|
| 9 |
A Single Genetic Origin for the G101W CDKN2A Mutation in 20 Melanoma-Prone Families
|
Ciotti, Paola
|
|
2000
|
67 |
2 |
p. 311-319
9 p.
|
artikel
|
| 10 |
Autozygosity Mapping of a Seckel Syndrome Locus to Chromosome 3q22.1-q24
|
Goodship, Judith
|
|
2000
|
67 |
2 |
p. 498-503
6 p.
|
artikel
|
| 11 |
Chromosomal Instability Syndrome of Total Premature Chromatid Separation with Mosaic Variegated Aneuploidy Is Defective in Mitotic-Spindle Checkpoint
|
Matsuura, Shinya
|
|
2000
|
67 |
2 |
p. 483-486
4 p.
|
artikel
|
| 12 |
Chromosome 7q: Where Autism Meets Language Disorder?
|
Folstein, Susan E.
|
|
2000
|
67 |
2 |
p. 278-281
4 p.
|
artikel
|
| 13 |
Congenital Hereditary Lymphedema Caused by a Mutation That Inactivates VEGFR3 Tyrosine Kinase
|
Irrthum, Alexandre
|
|
2000
|
67 |
2 |
p. 295-301
7 p.
|
artikel
|
| 14 |
Erratum
|
|
|
2000
|
67 |
2 |
p. 541-
1 p.
|
artikel
|
| 15 |
Erratum
|
|
|
2000
|
67 |
2 |
p. 541-
1 p.
|
artikel
|
| 16 |
Further Evidence for an Association of ABCR Alleles with Age-Related Macular Degeneration
|
Allikmets, Rando
|
|
2000
|
67 |
2 |
p. 487-491
5 p.
|
artikel
|
| 17 |
Genetic Predisposition to Clinical Tuberculosis: Bridging the Gap between Simple and Complex Inheritance
|
Abel, Laurent
|
|
2000
|
67 |
2 |
p. 274-277
4 p.
|
artikel
|
| 18 |
Identification of a Novel Gene on Chromosome 7q31 That Is Interrupted by a Translocation Breakpoint in an Autistic Individual
|
Vincent, John B.
|
|
2000
|
67 |
2 |
p. 510-514
5 p.
|
artikel
|
| 19 |
Imprinting of Human GRB10 and Its Mutations in Two Patients with Russell-Silver Syndrome
|
Yoshihashi, Hiroshi
|
|
2000
|
67 |
2 |
p. 476-482
7 p.
|
artikel
|
| 20 |
Linkage of Tuberculosis to Chromosome 2q35 Loci, Including NRAMP1, in a Large Aboriginal Canadian Family
|
Greenwood, Celia M.T.
|
|
2000
|
67 |
2 |
p. 405-416
12 p.
|
artikel
|
| 21 |
Localization of a Gene for Syndactyly Type 1 to Chromosome 2q34-q36
|
Bosse, Kristin
|
|
2000
|
67 |
2 |
p. 492-497
6 p.
|
artikel
|
| 22 |
Localization of Multiple Melanoma Tumor–Suppressor Genes on Chromosome 11 by Use of Homozygosity Mapping-of-Deletions Analysis
|
Goldberg, Eleonora K.
|
|
2000
|
67 |
2 |
p. 417-431
15 p.
|
artikel
|
| 23 |
Meiotic Recombination and Flanking Marker Exchange at the Highly Unstable Human Minisatellite CEB1 (D2S90)
|
Buard, Jérôme
|
|
2000
|
67 |
2 |
p. 333-344
12 p.
|
artikel
|
| 24 |
Multipoint Linkage Analysis of the Pseudoautosomal Regions, Using Affected Sibling Pairs
|
Dupuis, Josée
|
|
2000
|
67 |
2 |
p. 462-475
14 p.
|
artikel
|
| 25 |
News from the Editor
|
Warren, Stephen T.
|
|
2000
|
67 |
2 |
p. 271-
1 p.
|
artikel
|
| 26 |
Pseudoautosomal Linkage of Hodgkin Disease
|
Whittemore, Alice S.
|
|
2000
|
67 |
2 |
p. 535-537
3 p.
|
artikel
|
| 27 |
Repeat Polymorphisms within Gene Regions: Phenotypic and Evolutionary Implications
|
Wren, Jonathan D.
|
|
2000
|
67 |
2 |
p. 345-356
12 p.
|
artikel
|
| 28 |
Reply to Horvath et al.
|
Huang, Jian
|
|
2000
|
67 |
2 |
p. 534-535
2 p.
|
artikel
|
| 29 |
Reply to Jenkins
|
Byers, Peter H.
|
|
2000
|
67 |
2 |
p. 527-
1 p.
|
artikel
|
| 30 |
Reply to Whittemore and Shih
|
Horwitz, Marshall
|
|
2000
|
67 |
2 |
p. 537-
1 p.
|
artikel
|
| 31 |
SNPing Away at Complex Diseases: Analysis of Single-Nucleotide Polymorphisms around APOE in Alzheimer Disease
|
Martin, Eden R.
|
|
2000
|
67 |
2 |
p. 383-394
12 p.
|
artikel
|
| 32 |
Statement on Gene Therapy, April 2000
|
|
|
2000
|
67 |
2 |
p. 272-273
2 p.
|
artikel
|
| 33 |
Statistical Approaches to Gene Mapping
|
Ott, Jurg
|
|
2000
|
67 |
2 |
p. 289-294
6 p.
|
artikel
|
| 34 |
The Accuracy of Statistical Methods for Estimation of Haplotype Frequencies: An Example from the CD4 Locus
|
Tishkoff, S.A.
|
|
2000
|
67 |
2 |
p. 518-522
5 p.
|
artikel
|
| 35 |
The Ancestry of Brazilian mtDNA Lineages
|
Alves-Silva, Juliana
|
|
2000
|
67 |
2 |
p. 444-461
18 p.
|
artikel
|
| 36 |
The Disequilibrium Maximum-Likelihood–Binomial Test Does Not Replace the Transmission/Disequilibrium Test
|
Horvath, Steve
|
|
2000
|
67 |
2 |
p. 531-533
3 p.
|
artikel
|
| 37 |
The Inheritance of Neuropsychological Dysfunction in Twins Discordant for Schizophrenia
|
Cannon, Tyrone D.
|
|
2000
|
67 |
2 |
p. 369-382
14 p.
|
artikel
|
| 38 |
The Problems of Using the Transmission/Disequilibrium Test to Infer Tight Linkage
|
Whittaker, J.C.
|
|
2000
|
67 |
2 |
p. 523-526
4 p.
|
artikel
|
| 39 |
The SPCH1 Region on Human 7q31: Genomic Characterization of the Critical Interval and Localization of Translocations Associated with Speech and Language Disorder
|
Lai, Cecilia S.L.
|
|
2000
|
67 |
2 |
p. 357-368
12 p.
|
artikel
|
| 40 |
The X Chromosome and the Rate of Deleterious Mutations in Humans
|
Giannelli, Francesco
|
|
2000
|
67 |
2 |
p. 515-517
3 p.
|
artikel
|
| 41 |
This Month in the Journal
|
Beauregard, Kathryn
|
|
2000
|
67 |
2 |
p. i-ii
nvt p.
|
artikel
|
| 42 |
Trisomic Pregnancy and Earlier Age at Menopause
|
Kline, Jennie
|
|
2000
|
67 |
2 |
p. 395-404
10 p.
|
artikel
|
Tijdschrift beschrijving