nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Absence of Significant Linkage between Phonological Coding Dyslexia and Chromosome 6p23-21.3, as Determined by Use of Quantitative-Trait Methods: Confirmation of Qualitative Analyses
|
Petryshen, Tracey L. |
|
2000 |
66 |
2 |
p. 708-714 7 p. |
artikel |
2 |
A Coalescent Approach to Study Linkage Disequilibrium between Single-Nucleotide Polymorphisms
|
Zöllner, Sebastian |
|
2000 |
66 |
2 |
p. 615-628 14 p. |
artikel |
3 |
Age Estimate of the N370S Mutation Causing Gaucher Disease in Ashkenazi Jews and European Populations: A Reappraisal of Haplotype Data
|
Colombo, Roberto |
|
2000 |
66 |
2 |
p. 692-697 6 p. |
artikel |
4 |
A Locus for Autosomal Dominant “Pure” Hereditary Spastic Paraplegia Maps to Chromosome 19q13
|
Reid, E. |
|
2000 |
66 |
2 |
p. 728-732 5 p. |
artikel |
5 |
A New Locus for Autosomal Dominant Pure Spastic Paraplegia, on Chromosome 2q24-q34
|
Fontaine, Bertrand |
|
2000 |
66 |
2 |
p. 702-707 6 p. |
artikel |
6 |
A New Locus for Autosomal Recessive Hypercholesterolemia Maps to Human Chromosome 15q25-q26
|
Ciccarese, Milco |
|
2000 |
66 |
2 |
p. 453-460 8 p. |
artikel |
7 |
A New Locus for Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2
|
Lopes-Cendes, I. |
|
2000 |
66 |
2 |
p. 698-701 4 p. |
artikel |
8 |
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 |
66 |
2 |
p. 749-752 4 p. |
artikel |
9 |
Application and Interpretation of Transmission/Disequilibrium Tests: Transmission of HLA-DQ Haplotypes to Unaffected Siblings in 526 Families with Type 1 Diabetes
|
Lie, Benedicte A. |
|
2000 |
66 |
2 |
p. 740-743 4 p. |
artikel |
10 |
Assignment of a Form of Congenital Muscular Dystrophy with Secondary Merosin Deficiency to Chromosome 1q42
|
Brockington, Martin |
|
2000 |
66 |
2 |
p. 428-435 8 p. |
artikel |
11 |
A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34
|
Moynihan, Leanne |
|
2000 |
66 |
2 |
p. 724-727 4 p. |
artikel |
12 |
ATM-Heterozygous Germline Mutations Contribute to Breast Cancer–Susceptibility
|
Broeks, Annegien |
|
2000 |
66 |
2 |
p. 494-500 7 p. |
artikel |
13 |
A Unique Form of Mental Retardation with a Distinctive Phenotype Maps to Xq26-q27
|
Shashi, Vandana |
|
2000 |
66 |
2 |
p. 469-479 11 p. |
artikel |
14 |
Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene
|
Melkoniemi, Miia |
|
2000 |
66 |
2 |
p. 368-377 10 p. |
artikel |
15 |
Chromosome 6p Influences on Different Dyslexia-Related Cognitive Processes: Further Confirmation
|
Grigorenko, Elena L. |
|
2000 |
66 |
2 |
p. 715-723 9 p. |
artikel |
16 |
Detection of Chromosomal Aberrations by a Whole-Genome Microsatellite Screen
|
Rosenberg, Marjorie J. |
|
2000 |
66 |
2 |
p. 419-427 9 p. |
artikel |
17 |
Effects of Stratification in the Analysis of Affected-Sib-Pair Data: Benefits and Costs
|
Leal, Suzanne M. |
|
2000 |
66 |
2 |
p. 567-575 9 p. |
artikel |
18 |
Erratum
|
|
|
2000 |
66 |
2 |
p. 753- 1 p. |
artikel |
19 |
Erratum
|
|
|
2000 |
66 |
2 |
p. 753- 1 p. |
artikel |
20 |
Erratum
|
|
|
2000 |
66 |
2 |
p. 753- 1 p. |
artikel |
21 |
Erratum
|
|
|
2000 |
66 |
2 |
p. 753- 1 p. |
artikel |
22 |
Estimation of Variance Components of Quantitative Traits in Inbred Populations
|
Abney, Mark |
|
2000 |
66 |
2 |
p. 629-650 22 p. |
artikel |
23 |
Evidence for Heterogeneity in Recombination in the Human Pseudoautosomal Region: High Resolution Analysis by Sperm Typing and Radiation-Hybrid Mapping
|
Lien, Sigbjørn |
|
2000 |
66 |
2 |
p. 557-566 10 p. |
artikel |
24 |
Exon Skipping in IVD RNA Processing in Isovaleric Acidemia Caused by Point Mutations in the Coding Region of the IVD Gene
|
Vockley, Jerry |
|
2000 |
66 |
2 |
p. 356-367 12 p. |
artikel |
25 |
Familial Syndromic Esophageal Atresia Maps to 2p23-p24
|
Celli, Jacopo |
|
2000 |
66 |
2 |
p. 436-444 9 p. |
artikel |
26 |
Family-Based Tests of Association and Linkage That Use Unaffected Sibs, Covariates, and Interactions
|
Lunetta, Kathryn L. |
|
2000 |
66 |
2 |
p. 605-614 10 p. |
artikel |
27 |
Fine Localization of a Major Disease-Susceptibility Locus for Diffuse Panbronchiolitis
|
Keicho, Naoto |
|
2000 |
66 |
2 |
p. 501-507 7 p. |
artikel |
28 |
Genome Screening in Human Systemic Lupus Erythematosus: Results from a Second Minnesota Cohort and Combined Analyses of 187 Sib-Pair Families
|
Gaffney, Patrick M. |
|
2000 |
66 |
2 |
p. 547-556 10 p. |
artikel |
29 |
Haplotype Fine Mapping by Evolutionary Trees
|
Lam, Johnny C. |
|
2000 |
66 |
2 |
p. 659-673 15 p. |
artikel |
30 |
Imprinting Effect in Premature Ovarian Failure Confined to Paternally Inherited Fragile X Premutations
|
Hundscheid, Rubin D.L. |
|
2000 |
66 |
2 |
p. 413-418 6 p. |
artikel |
31 |
Individual Estimates of European Genetic Admixture Associated with Lower Body-Mass Index, Plasma Glucose, and Prevalence of Type 2 Diabetes in Pima Indians
|
Williams, Robert C. |
|
2000 |
66 |
2 |
p. 527-538 12 p. |
artikel |
32 |
Letter to Human Genetics Journals
|
Ayme, Segolene |
|
2000 |
66 |
2 |
p. 747-748 2 p. |
artikel |
33 |
Linkage Analyses at the Chromosome 1 Loci 1q24-25 (HPC1), 1q42.2-43 (PCAP), and 1p36 (CAPB) in Families with Hereditary Prostate Cancer
|
Berry, Rebecca |
|
2000 |
66 |
2 |
p. 539-546 8 p. |
artikel |
34 |
Localization of the Gene for a Novel Autosomal Recessive Neurodegenerative Huntington-Like Disorder to 4p15.3
|
Kambouris, M. |
|
2000 |
66 |
2 |
p. 445-452 8 p. |
artikel |
35 |
Methionine Adenosyltransferase I/III Deficiency: Novel Mutationsand Clinical Variations
|
Chamberlin, Margaret E. |
|
2000 |
66 |
2 |
p. 347-355 9 p. |
artikel |
36 |
Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome
|
Witsch-Baumgartner, M. |
|
2000 |
66 |
2 |
p. 402-412 11 p. |
artikel |
37 |
Mutations in the AIRE Gene: Effects on Subcellular Location and Transactivation Function of the Autoimmune Polyendocrinopathy-Candidiasis–Ectodermal Dystrophy Protein
|
Björses, Petra |
|
2000 |
66 |
2 |
p. 378-392 15 p. |
artikel |
38 |
New Estimates of Intergenerational Time Intervals for the Calculation of Age and Origins of Mutations
|
Tremblay, Marc |
|
2000 |
66 |
2 |
p. 651-658 8 p. |
artikel |
39 |
Removing the Sampling Restrictions from Family-Based Tests of Association for a Quantitative-Trait Locus
|
Monks, S.A. |
|
2000 |
66 |
2 |
p. 576-592 17 p. |
artikel |
40 |
Reply to Donnelly
|
van der Put, Nathalie M.J. |
|
2000 |
66 |
2 |
p. 744-745 2 p. |
artikel |
41 |
Reproducibility and Complications in Gene Searches: Linkage on Chromosome 6, Heterogeneity, Association, and Maternal Inheritance in Juvenile Myoclonic Epilepsy
|
Greenberg, David A. |
|
2000 |
66 |
2 |
p. 508-516 9 p. |
artikel |
42 |
Special Oversight Groups to Add Protections for Population-Based Repository Samples
|
Greenberg, Judith H. |
|
2000 |
66 |
2 |
p. 745-747 3 p. |
artikel |
43 |
Survey of the Fragile X Syndrome CGG Repeat and the Short-Tandem-Repeat and Single-Nucleotide-Polymorphism Haplotypes in an African American Population
|
Crawford, Dana C. |
|
2000 |
66 |
2 |
p. 480-493 14 p. |
artikel |
44 |
The 1298(A→C) Mutation of Methylenetetrahydrofolate Reductase Should Be Designated to the 1289 Position of the Gene
|
Donnelly, James G. |
|
2000 |
66 |
2 |
p. 744- 1 p. |
artikel |
45 |
The Relationship between the Sibling Recurrence-Risk Ratio and Genotype Relative Risk
|
Rybicki, Benjamin A. |
|
2000 |
66 |
2 |
p. 593-604 12 p. |
artikel |
46 |
The X Chromosome Frequently Lags Behind in Female Lymphocyte Anaphase
|
Catalán, Julia |
|
2000 |
66 |
2 |
p. 687-691 5 p. |
artikel |
47 |
This Month in the Journal
|
Beauregard, Kathryn |
|
2000 |
66 |
2 |
p. i-ii nvt p. |
artikel |
48 |
Toward a Survey of Somatic Mutation of the NF1 Gene in Benign Neurofibromas of Patients with Neurofibromatosis Type 1
|
Eisenbarth, Ingrid |
|
2000 |
66 |
2 |
p. 393-401 9 p. |
artikel |
49 |
Vacuoliting Megalencephalic Leukoencephalopathy with Subcortical Cysts, Mapped to Chromosome 22qtel
|
Topçu, Meral |
|
2000 |
66 |
2 |
p. 733-739 7 p. |
artikel |
50 |
Variation in the Interleukin 4–Receptor α Gene Confers Susceptibility to Asthma and Atopy in Ethnically Diverse Populations
|
Ober, Carole |
|
2000 |
66 |
2 |
p. 517-526 10 p. |
artikel |
51 |
X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea Maps to Xp11.23-Xq13.3
|
Bennett, Craig L. |
|
2000 |
66 |
2 |
p. 461-468 8 p. |
artikel |
52 |
Y Chromosomes Traveling South: The Cohen Modal Haplotype and the Origins of the Lemba—the “Black Jews of Southern Africa”
|
Thomas, Mark G. |
|
2000 |
66 |
2 |
p. 674-686 13 p. |
artikel |