| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Accuracy of Haplotype Frequency Estimation for Biallelic Loci, via the Expectation-Maximization Algorithm for Unphased Diploid Genotype Data
|
Fallin, Daniele
|
|
2000
|
67 |
4 |
p. 947-959
13 p.
|
artikel
|
| 2 |
A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration
|
Rivera, Andrea
|
|
2000
|
67 |
4 |
p. 800-813
14 p.
|
artikel
|
| 3 |
A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31
|
Cormier-Daire, Valérie
|
|
2000
|
67 |
4 |
p. 991-993
3 p.
|
artikel
|
| 4 |
A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in Males
|
Meloni, Ilaria
|
|
2000
|
67 |
4 |
p. 982-985
4 p.
|
artikel
|
| 5 |
An Isochore Transition in the NF1 Gene Region Coincides with a Switch in the Extent of Linkage Disequilibrium
|
Eisenbarth, Ingrid
|
|
2000
|
67 |
4 |
p. 873-880
8 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 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 |
4 |
p. 1040-1044
5 p.
|
artikel
|
| 7 |
A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1
|
Johnston, Jennifer J.
|
|
2000
|
67 |
4 |
p. 814-821
8 p.
|
artikel
|
| 8 |
Apolipoprotein E Variation at the Sequence Haplotype Level: Implications for the Origin and Maintenance of a Major Human Polymorphism
|
Fullerton, Stephanie M.
|
|
2000
|
67 |
4 |
p. 881-900
20 p.
|
artikel
|
| 9 |
Association of HPC2/ELAC2 Genotypes and Prostate Cancer
|
Rebbeck, Timothy R.
|
|
2000
|
67 |
4 |
p. 1014-1019
6 p.
|
artikel
|
| 10 |
A Unified Haseman-Elston Method for Testing Linkage with Quantitative Traits
|
Xu, Xin
|
|
2000
|
67 |
4 |
p. 1025-1028
4 p.
|
artikel
|
| 11 |
Consistent Long-Range Linkage Disequilibrium Generated by Admixture in a Bantu-Semitic Hybrid Population
|
Wilson, James F.
|
|
2000
|
67 |
4 |
p. 926-935
10 p.
|
artikel
|
| 12 |
Defective Peroxisome Membrane Synthesis Due To Mutations in Human PEX3 Causes Zellweger Syndrome, Complementation Group G
|
Muntau, Ania C.
|
|
2000
|
67 |
4 |
p. 967-975
9 p.
|
artikel
|
| 13 |
Distinct Mutations in the Receptor Tyrosine Kinase Gene ROR2 Cause Brachydactyly Type B
|
Schwabe, Georg C.
|
|
2000
|
67 |
4 |
p. 822-831
10 p.
|
artikel
|
| 14 |
Errata
|
|
|
2000
|
67 |
4 |
p. 1045-
1 p.
|
artikel
|
| 15 |
Erratum
|
|
|
2000
|
67 |
4 |
p. 1045-
1 p.
|
artikel
|
| 16 |
Genetic Testing Should Not Be Advocated as a Diagnostic Tool in Familial Forms of Dementia
|
Croes, Esther A.
|
|
2000
|
67 |
4 |
p. 1033-1035
3 p.
|
artikel
|
| 17 |
Genomewide Scan in German Families Reveals Evidence for a Novel Psoriasis-Susceptibility Locus on Chromosome 19p13
|
Lee, Young-Ae
|
|
2000
|
67 |
4 |
p. 1020-1024
5 p.
|
artikel
|
| 18 |
Genomic Sequence, Splicing, and Gene Annotation
|
Mount, Stephen M.
|
|
2000
|
67 |
4 |
p. 788-792
5 p.
|
artikel
|
| 19 |
Hypervariable Sites in the mtDNA Control Region Are Mutational Hotspots
|
Stoneking, Mark
|
|
2000
|
67 |
4 |
p. 1029-1032
4 p.
|
artikel
|
| 20 |
Mapping a Dominant Form of Multinodular Goiter to Chromosome Xp22
|
Capon, F.
|
|
2000
|
67 |
4 |
p. 1004-1007
4 p.
|
artikel
|
| 21 |
Mapping of the Locus for Cholestasis-Lymphedema Syndrome (Aagenaes Syndrome) to a 6.6-cM Interval on Chromosome 15q
|
Bull, Laura N.
|
|
2000
|
67 |
4 |
p. 994-999
6 p.
|
artikel
|
| 22 |
Mechanisms of Genomic Imprinting
|
Pfeifer, Karl
|
|
2000
|
67 |
4 |
p. 777-787
11 p.
|
artikel
|
| 23 |
Multicolor FISH Analysis of Chromosomal Breaks, Duplications, Deletions, and Numerical Abnormalities in the Sperm of Healthy Men
|
Sloter, Eddie D.
|
|
2000
|
67 |
4 |
p. 862-872
11 p.
|
artikel
|
| 24 |
Multipoint Genetic Mapping with Uniparental Disomy Data
|
Zhao, Hongyu
|
|
2000
|
67 |
4 |
p. 851-861
11 p.
|
artikel
|
| 25 |
Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy
|
Maugeri, Alessandra
|
|
2000
|
67 |
4 |
p. 960-966
7 p.
|
artikel
|
| 26 |
Neonatal and Fetal Methylenetetrahydrofolate Reductase Genetic Polymorphisms: An Examination of C677T and A1298C Mutations
|
Isotalo, Phillip A.
|
|
2000
|
67 |
4 |
p. 986-990
5 p.
|
artikel
|
| 27 |
PEX3 Is the Causal Gene Responsible for Peroxisome Membrane Assembly–Defective Zellweger Syndrome of Complementation Group G
|
Ghaedi, Kamran
|
|
2000
|
67 |
4 |
p. 976-981
6 p.
|
artikel
|
| 28 |
Remapping of the RP15 Locus for X-Linked Cone-Rod Degeneration to Xp11.4-p21.1, and Identification of a De Novo Insertion in the RPGR Exon ORF15
|
Mears, Alan J.
|
|
2000
|
67 |
4 |
p. 1000-1003
4 p.
|
artikel
|
| 29 |
Reply to Croes et al.
|
Finckh, Ulrich
|
|
2000
|
67 |
4 |
p. 1035-1036
2 p.
|
artikel
|
| 30 |
Screening for Genomic Rearrangements in Families with Breast and Ovarian Cancer Identifies BRCA1 Mutations Previously Missed by Conformation-Sensitive Gel Electrophoresis or Sequencing
|
Unger, Meredith A.
|
|
2000
|
67 |
4 |
p. 841-850
10 p.
|
artikel
|
| 31 |
Short Tandem-Repeat Polymorphism/Alu Haplotype Variation at the PLAT Locus: Implications for Modern Human Origins
|
Tishkoff, S.A.
|
|
2000
|
67 |
4 |
p. 901-925
25 p.
|
artikel
|
| 32 |
Significant Linkage for Tourette Syndrome in a Large French Canadian Family
|
Mérette, Chantal
|
|
2000
|
67 |
4 |
p. 1008-1013
6 p.
|
artikel
|
| 33 |
Simple and Complex ABCR: Genetic Predisposition to Retinal Disease
|
Allikmets, Rando
|
|
2000
|
67 |
4 |
p. 793-799
7 p.
|
artikel
|
| 34 |
The Efficiency of Pooling in the Detection of Rare Mutations
|
Gastwirth, Joseph L.
|
|
2000
|
67 |
4 |
p. 1036-1039
4 p.
|
artikel
|
| 35 |
The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation
|
Aula, Nina
|
|
2000
|
67 |
4 |
p. 832-840
9 p.
|
artikel
|
| 36 |
This Month in the Journal
|
Beauregard, Kathryn
|
|
2000
|
67 |
4 |
p. i-ii
nvt p.
|
artikel
|
| 37 |
Transmission/Disequilibrium Tests Using Multiple Tightly Linked Markers
|
Zhao, Hongyu
|
|
2000
|
67 |
4 |
p. 936-946
11 p.
|
artikel
|
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