| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Accounting for Unmeasured Population Substructure in Case-Control Studies of Genetic Association Using a Novel Latent-Class Model
|
Satten, Glen A.
|
|
2001
|
68 |
2 |
p. 466-477
12 p.
|
artikel
|
| 2 |
A Duplication in Chromosome 4q35 Is Associated with Hereditary Benign Intraepithelial Dyskeratosis
|
Allingham, R.Rand
|
|
2001
|
68 |
2 |
p. 491-494
4 p.
|
artikel
|
| 3 |
After BRCA1 and BRCA2—What Next? Multifactorial Segregation Analyses of Three-Generation, Population-Based Australian Families Affected by Female Breast Cancer
|
Cui, Jisheng
|
|
2001
|
68 |
2 |
p. 420-431
12 p.
|
artikel
|
| 4 |
A Genomewide Linkage-Disequilibrium Scan Localizes the Saguenay–Lac-Saint-Jean Cytochrome Oxidase Deficiency to 2p16
|
Lee, Nana
|
|
2001
|
68 |
2 |
p. 397-409
13 p.
|
artikel
|
| 5 |
Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study
|
Gaspar, C.
|
|
2001
|
68 |
2 |
p. 523-528
6 p.
|
artikel
|
| 6 |
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.
|
|
|
2001
|
68 |
2 |
p. 550-556
7 p.
|
artikel
|
| 7 |
A Novel Form of “Central Pouchlike” Cataract, with Sutural Opacities, Maps to Chromosome 15q21-22
|
Vanita, A.
|
|
2001
|
68 |
2 |
p. 509-514
6 p.
|
artikel
|
| 8 |
A Novel Syndrome Affecting Multiple Mitochondrial Functions, Located by Microcell-Mediated Transfer to Chromosome 2p14-2p13
|
Seyda, Agnieszka
|
|
2001
|
68 |
2 |
p. 386-396
11 p.
|
artikel
|
| 9 |
A Predominantly Indigenous Paternal Heritage for the Austronesian-Speaking Peoples of Insular Southeast Asia and Oceania
|
Capelli, Cristian
|
|
2001
|
68 |
2 |
p. 432-443
12 p.
|
artikel
|
| 10 |
A Quantitative-Trait Analysis of Human Plasma–Dopamine β-Hydroxylase Activity: Evidence for a Major Functional Polymorphism at the DBH Locus
|
Zabetian, Cyrus P.
|
|
2001
|
68 |
2 |
p. 515-522
8 p.
|
artikel
|
| 11 |
A Second Gene for Otosclerosis, OTSC2, Maps to Chromosome 7q34-36
|
Van Den Bogaert, Kris
|
|
2001
|
68 |
2 |
p. 495-500
6 p.
|
artikel
|
| 12 |
A Spectrum of FOXC1 Mutations Suggests Gene Dosage as a Mechanism for Developmental Defects of the Anterior Chamber of the Eye
|
Nishimura, Darryl Y.
|
|
2001
|
68 |
2 |
p. 364-372
9 p.
|
artikel
|
| 13 |
Bilineal Disease and Trans-Heterozygotes in Autosomal Dominant Polycystic Kidney Disease
|
Pei, York
|
|
2001
|
68 |
2 |
p. 355-363
9 p.
|
artikel
|
| 14 |
Clustering of Missense Mutations in the C-Terminal Region of Factor H in Atypical Hemolytic Uremic Syndrome
|
Pérez-Caballero, David
|
|
2001
|
68 |
2 |
p. 478-484
7 p.
|
artikel
|
| 15 |
Conflicting Reports of Imprinting Status of Human GRB10 in Developing Brain: How Reliable Are Somatic Cell Hybrids for Predicting Allelic Origin of Expression?
|
Mergenthaler, Susanne
|
|
2001
|
68 |
2 |
p. 543-544
2 p.
|
artikel
|
| 16 |
Erratum
|
|
|
2001
|
68 |
2 |
p. 557-
1 p.
|
artikel
|
| 17 |
Erratum
|
|
|
2001
|
68 |
2 |
p. 557-
1 p.
|
artikel
|
| 18 |
Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell Recognition
|
Richards, Anna
|
|
2001
|
68 |
2 |
p. 485-490
6 p.
|
artikel
|
| 19 |
Founder Mutations of BRCA1 and BRCA2 in North American Families of Polish Origin That Are Affected with Breast Cancer
|
de los Rios, Patricia
|
|
2001
|
68 |
2 |
p. 546-
1 p.
|
artikel
|
| 20 |
Genetics and Analysis of Quantitative Traits
|
Leal, Suzanne M.
|
|
2001
|
68 |
2 |
p. 548-549
2 p.
|
artikel
|
| 21 |
Genetics of Schizophrenia and the New Millennium: Progress and Pitfalls
|
Baron, Miron
|
|
2001
|
68 |
2 |
p. 299-312
14 p.
|
artikel
|
| 22 |
Genomic Divergences between Humans and Other Hominoids and the Effective Population Size of the Common Ancestor of Humans and Chimpanzees
|
Chen, Feng-Chi
|
|
2001
|
68 |
2 |
p. 444-456
13 p.
|
artikel
|
| 23 |
High Residual Activity of PMM2 in Patients’ Fibroblasts: Possible Pitfall in the Diagnosis of CDG-Ia (Phosphomannomutase Deficiency)
|
Grünewald, Stephanie
|
|
2001
|
68 |
2 |
p. 347-354
8 p.
|
artikel
|
| 24 |
Homozygosity Mapping of Portuguese and Japanese Forms of Ataxia-Oculomotor Apraxia to 9p13, and Evidence for Genetic Heterogeneity
|
Moreira, Maria do Céu
|
|
2001
|
68 |
2 |
p. 501-508
8 p.
|
artikel
|
| 25 |
Measurement of Mutational Flow Implies Both a High New-Mutation Rate for Huntington Disease and Substantial Underascertainment of Late-Onset Cases
|
Falush, Daniel
|
|
2001
|
68 |
2 |
p. 373-385
13 p.
|
artikel
|
| 26 |
Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy
|
Boerkoel, Cornelius F.
|
|
2001
|
68 |
2 |
p. 325-333
9 p.
|
artikel
|
| 27 |
Point Mutations of the mtDNA Control Region in Normal and Neurodegenerative Human Brains
|
Chinnery, P.F.
|
|
2001
|
68 |
2 |
p. 529-532
4 p.
|
artikel
|
| 28 |
Problems in the Definition, Interpretation, and Evaluation of Genetic Heterogeneity
|
Whittemore, Alice S.
|
|
2001
|
68 |
2 |
p. 457-465
9 p.
|
artikel
|
| 29 |
Random Genetic Drift Determines the Level of Mutant mtDNA in Human Primary Oocytes
|
Brown, D.T.
|
|
2001
|
68 |
2 |
p. 533-536
4 p.
|
artikel
|
| 30 |
Reply to Mergenthaler et al.
|
Yoshihashi, Hiroshi
|
|
2001
|
68 |
2 |
p. 544-545
2 p.
|
artikel
|
| 31 |
The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism
|
Gallardo, M.Esther
|
|
2001
|
68 |
2 |
p. 334-346
13 p.
|
artikel
|
| 32 |
This Month in the Journal
|
Beauregard, Kathryn
|
|
2001
|
68 |
2 |
p. i-ii
nvt p.
|
artikel
|
| 33 |
Vacuoliting Megalencephalic Leukoencephalopathy
|
Pras, Elon
|
|
2001
|
68 |
2 |
p. 546-547
2 p.
|
artikel
|
| 34 |
Variation in Cancer Risks, by Mutation Position, in BRCA2 Mutation Carriers
|
Thompson, Deborah
|
|
2001
|
68 |
2 |
p. 410-419
10 p.
|
artikel
|
| 35 |
Wild-Type Huntingtin Reduces the Cellular Toxicity of Mutant Huntingtin In Vivo
|
Leavitt, Blair R.
|
|
2001
|
68 |
2 |
p. 313-324
12 p.
|
artikel
|
| 36 |
Y-Chromosome Lineages Trace Diffusion of People and Languages in Southwestern Asia
|
Quintana-Murci, Lluís
|
|
2001
|
68 |
2 |
p. 537-542
6 p.
|
artikel
|
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