| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Comprehensive Survey of Human Y-Chromosomal Microsatellites
|
Kayser, Manfred
|
|
2004
|
74 |
6 |
p. 1183-1197
15 p.
|
artikel
|
| 2 |
A Genomewide Scan Identifies Novel Early-Onset Primary Open-Angle Glaucoma Loci on 9q22 and 20p12
|
Wiggs, J.L.
|
|
2004
|
74 |
6 |
p. 1314-1320
7 p.
|
artikel
|
| 3 |
AICA-Ribosiduria: A Novel, Neurologically Devastating Inborn Error of Purine Biosynthesis Caused by Mutation of ATIC
|
Marie, Sandrine
|
|
2004
|
74 |
6 |
p. 1276-1281
6 p.
|
artikel
|
| 4 |
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, Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Room 301, 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.
|
|
|
2004
|
74 |
6 |
p. 1328-
1 p.
|
artikel
|
| 5 |
Bias toward the Null Hypothesis in Model-Free Linkage Analysis Is Highly Dependent on the Test Statistic Used
|
Cordell, Heather J.
|
|
2004
|
74 |
6 |
p. 1294-1302
9 p.
|
artikel
|
| 6 |
CHEK2*1100delC and Susceptibility to Breast Cancer: A Collaborative Analysis Involving 10,860 Breast Cancer Cases and 9,065 Controls from 10 Studies
|
|
|
2004
|
74 |
6 |
p. 1175-1182
8 p.
|
artikel
|
| 7 |
Chromosomal Abnormalities among Offspring of Childhood-Cancer Survivors in Denmark: A Population-Based Study
|
Winther, Jeanette Falck
|
|
2004
|
74 |
6 |
p. 1282-1285
4 p.
|
artikel
|
| 8 |
Comparative Genomic Hybridization–Array Analysis Enhances the Detection of Aneuploidies and Submicroscopic Imbalances in Spontaneous Miscarriages
|
Schaeffer, Anthony J.
|
|
2004
|
74 |
6 |
p. 1168-1174
7 p.
|
artikel
|
| 9 |
Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome
|
Fernandez, Thomas
|
|
2004
|
74 |
6 |
p. 1286-1293
8 p.
|
artikel
|
| 10 |
DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)
|
Chen, Ying-Zhang
|
|
2004
|
74 |
6 |
p. 1128-1135
8 p.
|
artikel
|
| 11 |
Extended Linkage Disequilibrium Surrounding the Hemoglobin E Variant Due to Malarial Selection
|
Ohashi, Jun
|
|
2004
|
74 |
6 |
p. 1198-1208
11 p.
|
artikel
|
| 12 |
Fibroblast Growth Factor 20 Polymorphisms and Haplotypes Strongly Influence Risk of Parkinson Disease
|
van der Walt, Joelle M.
|
|
2004
|
74 |
6 |
p. 1121-1127
7 p.
|
artikel
|
| 13 |
Genetic Signatures of Strong Recent Positive Selection at the Lactase Gene
|
Bersaglieri, Todd
|
|
2004
|
74 |
6 |
p. 1111-1120
10 p.
|
artikel
|
| 14 |
Genomewide Significant Linkage to Recurrent, Early-Onset Major Depressive Disorder on Chromosome 15q
|
Holmans, Peter
|
|
2004
|
74 |
6 |
p. 1154-1167
14 p.
|
artikel
|
| 15 |
Graphical Modeling of the Joint Distribution of Alleles at Associated Loci
|
Thomas, Alun
|
|
2004
|
74 |
6 |
p. 1088-1101
14 p.
|
artikel
|
| 16 |
Highly Significant Linkage to the SLI1 Locus in an Expanded Sample of Individuals Affected by Specific Language Impairment
|
|
|
2004
|
74 |
6 |
p. 1225-1238
14 p.
|
artikel
|
| 17 |
Insulin Receptor Splicing Alteration in Myotonic Dystrophy Type 2
|
Savkur, R.S.
|
|
2004
|
74 |
6 |
p. 1309-1313
5 p.
|
artikel
|
| 18 |
Linkage Analysis of a Complex Disease through Use of Admixed Populations
|
Zhu, Xiaofeng
|
|
2004
|
74 |
6 |
p. 1136-1153
18 p.
|
artikel
|
| 19 |
Lost Paradises and the Ethics of Research and Publication.
|
Turner, Trudy R.
|
|
2004
|
74 |
6 |
p. 1326-1327
2 p.
|
artikel
|
| 20 |
Missense Mutation in Pseudouridine Synthase 1 (PUS1) Causes Mitochondrial Myopathy and Sideroblastic Anemia (MLASA)
|
Bykhovskaya, Yelena
|
|
2004
|
74 |
6 |
p. 1303-1308
6 p.
|
artikel
|
| 21 |
Modes of Action of HLA-DR Susceptibility Specificities in Multiple Sclerosis
|
Modin, Helena
|
|
2004
|
74 |
6 |
p. 1321-1322
2 p.
|
artikel
|
| 22 |
Mutated MESP2 Causes Spondylocostal Dysostosis in Humans
|
Whittock, Neil V.
|
|
2004
|
74 |
6 |
p. 1249-1254
6 p.
|
artikel
|
| 23 |
Mutations in the Human TBX4 Gene Cause Small Patella Syndrome
|
Bongers, Ernie M.H.F.
|
|
2004
|
74 |
6 |
p. 1239-1248
10 p.
|
artikel
|
| 24 |
Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome
|
Wieland, Ilse
|
|
2004
|
74 |
6 |
p. 1209-1215
7 p.
|
artikel
|
| 25 |
Nuclear Factor TDP-43 Binds to the Polymorphic TG Repeats in CFTR Intron 8 and Causes Skipping of Exon 9: A Functional Link with Disease Penetrance
|
Buratti, Emanuele
|
|
2004
|
74 |
6 |
p. 1322-1325
4 p.
|
artikel
|
| 26 |
Offspring Gender Ratio and the Rate of Recurrent Spontaneous Miscarriages in Jewish Women at High Risk for Breast/Ovarian Cancer
|
Gal, Inbar
|
|
2004
|
74 |
6 |
p. 1270-1275
6 p.
|
artikel
|
| 27 |
Penetrance and Expressivity of MSH6 Germline Mutations in Seven Kindreds Not Ascertained by Family History
|
Buttin, Barbara M.
|
|
2004
|
74 |
6 |
p. 1262-1269
8 p.
|
artikel
|
| 28 |
Relevance of Connexin Deafness (DFNB1) to Human Evolution * * This article represents the opinions of the authors and has not been peer-reviewed.
|
Nance, Walter E.
|
|
2004
|
74 |
6 |
p. 1081-1087
7 p.
|
artikel
|
| 29 |
Somatic and Germline Instability of the ATTCT Repeat in Spinocerebellar Ataxia Type 10
|
Matsuura, Tohru
|
|
2004
|
74 |
6 |
p. 1216-1224
9 p.
|
artikel
|
| 30 |
The Novel Gene Encoding a Putative Transmembrane Protein Is Mutated in Gnathodiaphyseal Dysplasia (GDD)
|
Tsutsumi, Satoshi
|
|
2004
|
74 |
6 |
p. 1255-1261
7 p.
|
artikel
|
| 31 |
The T Allele of a Single-Nucleotide Polymorphism 13.9 kb Upstream of the Lactase Gene (LCT) (C−13.9kbT) Does Not Predict or Cause the Lactase-Persistence Phenotype in Africans
|
Mulcare, Charlotte A.
|
|
2004
|
74 |
6 |
p. 1102-1110
9 p.
|
artikel
|
| 32 |
This Month in the Journal
|
Garber, Kathryn
|
|
2004
|
74 |
6 |
p. i-ii
nvt p.
|
artikel
|
Tijdschrift beschrijving