| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
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.
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2001
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68 |
6 |
p. 1538-1541
4 p.
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artikel
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| 2 |
A Recurrent RNA-Splicing Mutation in the SEDL Gene Causes X-Linked Spondyloepiphyseal Dysplasia Tarda
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Tiller, George E.
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2001
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68 |
6 |
p. 1398-1407
10 p.
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artikel
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| 3 |
Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK
|
Reichenberger, Ernst
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2001
|
68 |
6 |
p. 1321-1326
6 p.
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artikel
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| 4 |
Benign Familial Infantile Convulsions: Mapping of a Novel Locus on Chromosome 2q24 and Evidence for Genetic Heterogeneity
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Malacarne, Michela
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2001
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68 |
6 |
p. 1521-1526
6 p.
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artikel
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| 5 |
De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy
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Claes, Lieve
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2001
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68 |
6 |
p. 1327-1332
6 p.
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artikel
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| 6 |
Dominant Inheritance of Sialuria, an Inborn Error of Feedback Inhibition
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Leroy, Jules G.
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2001
|
68 |
6 |
p. 1419-1427
9 p.
|
artikel
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| 7 |
Effects of 5′ Regulatory-Region Polymorphisms on Paraoxonase-Gene (PON1) Expression
|
Brophy, Victoria H.
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2001
|
68 |
6 |
p. 1428-1436
9 p.
|
artikel
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| 8 |
Equivalence between Haseman-Elston and Variance-Components Linkage Analyses for Sib Pairs
|
Sham, P.C.
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2001
|
68 |
6 |
p. 1527-1532
6 p.
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artikel
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| 9 |
Erratum
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2001
|
68 |
6 |
p. 1542-
1 p.
|
artikel
|
| 10 |
Evaluation of Candidate Genes in Case-Control Studies: A Statistical Method to Account for Related Subjects
|
Slager, S.L.
|
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2001
|
68 |
6 |
p. 1457-1462
6 p.
|
artikel
|
| 11 |
Evidence for a Susceptibility Gene for Autism on Chromosome 2 and for Genetic Heterogeneity
|
Buxbaum, Joseph D.
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2001
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68 |
6 |
p. 1514-1520
7 p.
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artikel
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| 12 |
Genetic Differentiation in South Amerindians Is Related to Environmental and Cultural Diversity: Evidence from the Y Chromosome
|
Tarazona-Santos, Eduardo
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2001
|
68 |
6 |
p. 1485-1496
12 p.
|
artikel
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| 13 |
Genomewide Screen and Identification of Gene-Gene Interactions for Asthma-Susceptibility Loci in Three U.S. Populations: Collaborative Study on the Genetics of Asthma
|
Xu, Jianfeng
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2001
|
68 |
6 |
p. 1437-1446
10 p.
|
artikel
|
| 14 |
Impaired Heme Binding and Aggregation of Mutant Cystathionine β-Synthase Subunits in Homocystinuria
|
Janošík, Miroslav
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2001
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68 |
6 |
p. 1506-1513
8 p.
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artikel
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| 15 |
Is Breast Cancer Part of the Tumor Spectrum of Hereditary Nonpolyposis Colorectal Cancer?
|
Vasen, H.F.A.
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2001
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68 |
6 |
p. 1533-1534
2 p.
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artikel
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| 16 |
Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency
|
Bénit, Paule
|
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2001
|
68 |
6 |
p. 1344-1352
9 p.
|
artikel
|
| 17 |
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency *
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Andresen, Brage Storstein
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2001
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68 |
6 |
p. 1408-1418
11 p.
|
artikel
|
| 18 |
Missense Mutations in the N-Terminal Domain of Human Phenylalanine Hydroxylase Interfere with Binding of Regulatory Phenylalanine
|
Gjetting, Torben
|
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2001
|
68 |
6 |
p. 1353-1360
8 p.
|
artikel
|
| 19 |
Mitochondria and the Quality of Human Gametes
|
Giannelli, Francesco
|
|
2001
|
68 |
6 |
p. 1535-1537
3 p.
|
artikel
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| 20 |
Nemaline Myopathy Caused by Mutations in the Muscle α-Skeletal-Actin Gene
|
Ilkovski, Biljana
|
|
2001
|
68 |
6 |
p. 1333-1343
11 p.
|
artikel
|
| 21 |
Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and of the Cysteine-Rich Luminal Loop
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Millat, Gilles
|
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2001
|
68 |
6 |
p. 1373-1385
13 p.
|
artikel
|
| 22 |
Niemann-Pick C Variant Detection by Altered Sphingolipid Trafficking and Correlation with Mutations within a Specific Domain of NPC1
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Sun, Xiaofeng
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2001
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68 |
6 |
p. 1361-1372
12 p.
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artikel
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| 23 |
Phylogenetic Network for European mtDNA
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Finnilä, Saara
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2001
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68 |
6 |
p. 1475-1484
10 p.
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artikel
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| 24 |
Reply to Vasen et al.
|
Scott, Rodney J.
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2001
|
68 |
6 |
p. 1534-1535
2 p.
|
artikel
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| 25 |
The Effect That Genotyping Errors Have on the Robustness of Common Linkage-Disequilibrium Measures
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Akey, Joshua M.
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2001
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68 |
6 |
p. 1447-1456
10 p.
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artikel
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| 26 |
The Human Aminophospholipid-Transporting ATPase Gene ATP10C Maps Adjacent to UBE3A and Exhibits Similar Imprinted Expression
|
Herzing, Laura B.K.
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2001
|
68 |
6 |
p. 1501-1505
5 p.
|
artikel
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| 27 |
The Mitochondrial Gene Tree Comes of Age
|
Richards, Martin
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2001
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68 |
6 |
p. 1315-1320
6 p.
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artikel
|
| 28 |
The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda
|
Gedeon, A.K.
|
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2001
|
68 |
6 |
p. 1386-1397
12 p.
|
artikel
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| 29 |
The Power to Detect Linkage Disequilibrium with Quantitative Traits in Selected Samples
|
Abecasis, Gonçalo R.
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2001
|
68 |
6 |
p. 1463-1474
12 p.
|
artikel
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| 30 |
This Month in the Journal
|
Beauregard, Kathryn
|
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2001
|
68 |
6 |
p. i-ii
nvt p.
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artikel
|
| 31 |
X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome
|
Salomons, Gajja S.
|
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2001
|
68 |
6 |
p. 1497-1500
4 p.
|
artikel
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