| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Locus for an Autosomal Dominant Form of Progressive Renal Failure and Hypertension at Chromosome 1q21
|
Cohn, Daniel H.
|
|
2000
|
67 |
3 |
p. 647-651
5 p.
|
artikel
|
| 2 |
A Member of a Gene Family on Xp22.3, VCX-A, Is Deleted in Patients with X-Linked Nonspecific Mental Retardation
|
Fukami, Maki
|
|
2000
|
67 |
3 |
p. 563-573
11 p.
|
artikel
|
| 3 |
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 receivedat 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 |
3 |
p. 770-774
5 p.
|
artikel
|
| 4 |
A Novel Locus for Autosomal Recessive Peripheral Neuropathy in the EGR2 Region on 10q23
|
Rogers, Tamara
|
|
2000
|
67 |
3 |
p. 664-671
8 p.
|
artikel
|
| 5 |
Autosomal Recessive Nonsyndromic Neurosensory Deafness at DFNB1 Not Associated with the Compound-Heterozygous GJB2 (Connexin 26) Genotype M34T/167delT
|
Griffith, Andrew J.
|
|
2000
|
67 |
3 |
p. 745-749
5 p.
|
artikel
|
| 6 |
Characterization of Terminal Deletions at 7q32 and 22q13.3 Healed by De Novo Telomere Addition
|
Varley, Helen
|
|
2000
|
67 |
3 |
p. 610-622
13 p.
|
artikel
|
| 7 |
Complementation Analysis in Fanconi Anemia: Assignment of the Reference FA-H Patient to Group A
|
Joenje, Hans
|
|
2000
|
67 |
3 |
p. 759-762
4 p.
|
artikel
|
| 8 |
Correction
|
Muenke, Maximilian
|
|
2000
|
67 |
3 |
p. 769-
1 p.
|
artikel
|
| 9 |
Erratum
|
|
|
2000
|
67 |
3 |
p. 775-
1 p.
|
artikel
|
| 10 |
Erratum
|
|
|
2000
|
67 |
3 |
p. 775-
1 p.
|
artikel
|
| 11 |
Erratum
|
|
|
2000
|
67 |
3 |
p. 775-
1 p.
|
artikel
|
| 12 |
Estimating Scandinavian and Gaelic Ancestry in the Male Settlers of Iceland
|
Helgason, Agnar
|
|
2000
|
67 |
3 |
p. 697-717
21 p.
|
artikel
|
| 13 |
Familial Aggregation of Absolute Pitch
|
Baharloo, Siamak
|
|
2000
|
67 |
3 |
p. 755-758
4 p.
|
artikel
|
| 14 |
Familial Primary Pulmonary Hypertension (Gene PPH1) Is Caused by Mutations in the Bone Morphogenetic Protein Receptor–II Gene
|
Deng, Zemin
|
|
2000
|
67 |
3 |
p. 737-744
8 p.
|
artikel
|
| 15 |
Human mtDNA Haplogroups Associated with High or Reduced Spermatozoa Motility
|
Ruiz-Pesini, Eduardo
|
|
2000
|
67 |
3 |
p. 682-696
15 p.
|
artikel
|
| 16 |
Identification and Analysis of Error Types in High-Throughput Genotyping
|
Ewen, Kelly R.
|
|
2000
|
67 |
3 |
p. 727-736
10 p.
|
artikel
|
| 17 |
Inactivation of Germline Mutant APC Alleles by Attenuated Somatic Mutations: A Molecular Genetic Mechanism for Attenuated Familial Adenomatous Polyposis
|
Su, Li-Kuo
|
|
2000
|
67 |
3 |
p. 582-590
9 p.
|
artikel
|
| 18 |
Iron-Dependent Self-Assembly of Recombinant Yeast Frataxin: Implications for Friedreich Ataxia
|
Adamec, Jiri
|
|
2000
|
67 |
3 |
p. 549-562
14 p.
|
artikel
|
| 19 |
Male Sperm Motility Dictated by Mother's mtDNA
|
Moore, Frederick L.
|
|
2000
|
67 |
3 |
p. 543-548
6 p.
|
artikel
|
| 20 |
Meiotic Studies of a Human Male Carrier of the Common Translocation, t(11;22), Suggests Postzygotic Selection rather than Preferential 3:1 MI Segregation as the Cause of Liveborn Offspring with an Unbalanced Translocation
|
Armstrong, Susan J.
|
|
2000
|
67 |
3 |
p. 601-609
9 p.
|
artikel
|
| 21 |
mtDNA Variation among Greenland Eskimos: The Edge of the Beringian Expansion
|
Saillard, Juliette
|
|
2000
|
67 |
3 |
p. 718-726
9 p.
|
artikel
|
| 22 |
Multicenter Linkage Study of Schizophrenia Candidate Regions on Chromosomes 5q, 6q, 10p, and 13q: Schizophrenia Linkage Collaborative Group III * * The Schizophrenia Linkage Collaborative Group III includes all authors, who are listed in the following order: study coordinators (Levinson, Holmans), principal investigators of each research group (Straub, Owen, Wildenauer, Gejman, Pulver, Laurent), and additional authors from each group, with groups listed according to the number of pedigrees contributed. Participating research groups are identified in the paper as “MCV/Ireland” (Straub, Kendler, Walsh), “U Wales” (Owen, Norton, Williams), “U Bonn” (Wildenauer, Schwab, Lerer); “US/Aust” (Levinson, Mowry), “U Chicago” (Gejman, Sanders), “JHU” (Pulver, Antonarakis, Blouin), and “CNRS” (Laurent, DeLeuze, Mallet).
|
Levinson, Douglas F.
|
|
2000
|
67 |
3 |
p. 652-663
12 p.
|
artikel
|
| 23 |
OTOF Encodes Multiple Long and Short Isoforms: Genetic Evidence That the Long Ones Underlie Recessive Deafness DFNB9
|
Yasunaga, Shin'ichiro
|
|
2000
|
67 |
3 |
p. 591-600
10 p.
|
artikel
|
| 24 |
Polymorphisms in Genes Involved in Folate Metabolism as Maternal Risk Factors for Down Syndrome
|
Hobbs, Charlotte A.
|
|
2000
|
67 |
3 |
p. 623-630
8 p.
|
artikel
|
| 25 |
Rare Etiology of Autosomal Recessive Disease in a Child with Noncarrier Parents
|
Lebo, Roger V.
|
|
2000
|
67 |
3 |
p. 750-754
5 p.
|
artikel
|
| 26 |
Segregation Analysis of Phenotypic Components of Learning Disabilities. I. Nonword Memory and Digit Span
|
Wijsman, Ellen M.
|
|
2000
|
67 |
3 |
p. 631-646
16 p.
|
artikel
|
| 27 |
Somatic and Germline Mosaic Mutations in the doublecortin Gene Are Associated with Variable Phenotypes
|
Gleeson, Joseph G.
|
|
2000
|
67 |
3 |
p. 574-581
8 p.
|
artikel
|
| 28 |
The Turner Syndrome–Associated Neurocognitive Phenotype Maps to Distal Xp
|
Ross, Judith L.
|
|
2000
|
67 |
3 |
p. 672-681
10 p.
|
artikel
|
| 29 |
This Month in the Journal
|
Beauregard, Kathryn
|
|
2000
|
67 |
3 |
p. i-ii
nvt p.
|
artikel
|
| 30 |
Tightly Clustered 11q23 and 22q11 Breakpoints Permit PCR-Based Detection of the Recurrent Constitutional t(11;22)
|
Kurahashi, Hiroki
|
|
2000
|
67 |
3 |
p. 763-768
6 p.
|
artikel
|
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