| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Dual Phenotype of Periventricular Nodular Heterotopia and Frontometaphyseal Dysplasia in One Patient Caused by a Single FLNA Mutation Leading to Two Functionally Different Aberrant Transcripts
|
Zenker, Martin
|
|
2004
|
74 |
4 |
p. 731-737
7 p.
|
artikel
|
| 2 |
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 |
4 |
p. 783-787
5 p.
|
artikel
|
| 3 |
A Simple Correction for Multiple Testing for Single-Nucleotide Polymorphisms in Linkage Disequilibrium with Each Other
|
Nyholt, Dale R.
|
|
2004
|
74 |
4 |
p. 765-769
5 p.
|
artikel
|
| 4 |
Crohn Disease: Frequency and Nature of CARD15 Mutations in Ashkenazi and Sephardi/Oriental Jewish Families
|
Tukel, Turgut
|
|
2004
|
74 |
4 |
p. 623-636
14 p.
|
artikel
|
| 5 |
Entwined Lives: Twins and What They Tell Us about Human Behavior
|
Fraser, F. Clarke
|
|
2004
|
74 |
4 |
p. 782-
1 p.
|
artikel
|
| 6 |
Epigenetics and Assisted Reproductive Technology: A Call for Investigation
|
Niemitz, Emily L.
|
|
2004
|
74 |
4 |
p. 599-609
11 p.
|
artikel
|
| 7 |
Errata
|
|
|
2004
|
74 |
4 |
p. 788-
1 p.
|
artikel
|
| 8 |
Errata
|
|
|
2004
|
74 |
4 |
p. 788-
1 p.
|
artikel
|
| 9 |
Germline Mutations of the Paired–Like Homeobox 2B (PHOX2B) Gene in Neuroblastoma
|
Trochet, Delphine
|
|
2004
|
74 |
4 |
p. 761-764
4 p.
|
artikel
|
| 10 |
Haplotype Diversity across 100 Candidate Genes for Inflammation, Lipid Metabolism, and Blood Pressure Regulation in Two Populations
|
Crawford, Dana C.
|
|
2004
|
74 |
4 |
p. 610-622
13 p.
|
artikel
|
| 11 |
High Proportion of Mutant Osteoblasts Is Compatible with Normal Skeletal Function in Mosaic Carriers of Osteogenesis Imperfecta * * Presented as a platform presentation at the National Meeting of the American Society of Bone and Mineral Research (Late-Breaking Research Session), San Antonio, TX, September 2002.
|
Cabral, Wayne A.
|
|
2004
|
74 |
4 |
p. 752-760
9 p.
|
artikel
|
| 12 |
Huntington’s Disease
|
Reddy, P. Hemachandra
|
|
2004
|
74 |
4 |
p. 781-782
2 p.
|
artikel
|
| 13 |
Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in Patients with Usher Syndrome Type II
|
van Wijk, Erwin
|
|
2004
|
74 |
4 |
p. 738-744
7 p.
|
artikel
|
| 14 |
Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q
|
Toomes, Carmel
|
|
2004
|
74 |
4 |
p. 721-730
10 p.
|
artikel
|
| 15 |
Natural Selection and Molecular Evolution in PTC, a Bitter-Taste Receptor Gene
|
Wooding, Stephen
|
|
2004
|
74 |
4 |
p. 637-646
10 p.
|
artikel
|
| 16 |
Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)
|
Donaudy, Francesca
|
|
2004
|
74 |
4 |
p. 770-776
7 p.
|
artikel
|
| 17 |
Novel Analytical Methods Applied to Type 1 Diabetes Genome-Scan Data
|
Pociot, Flemming
|
|
2004
|
74 |
4 |
p. 647-660
14 p.
|
artikel
|
| 18 |
Novel Truncating Mutations in the Polyglutamine Tract Binding Protein 1 Gene (PQBP1) Cause Renpenning Syndrome and X-Linked Mental Retardation in Another Family with Microcephaly
|
Lenski, Claus
|
|
2004
|
74 |
4 |
p. 777-780
4 p.
|
artikel
|
| 19 |
Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome
|
Baujat, Geneviève
|
|
2004
|
74 |
4 |
p. 715-720
6 p.
|
artikel
|
| 20 |
Power for Genetic Association Studies with Random Allele Frequencies and Genotype Distributions
|
Ambrosius, Walter T.
|
|
2004
|
74 |
4 |
p. 683-693
11 p.
|
artikel
|
| 21 |
Ribose-5-Phosphate Isomerase Deficiency: New Inborn Error in the Pentose Phosphate Pathway Associated with a Slowly Progressive Leukoencephalopathy
|
Huck, Jojanneke H.J.
|
|
2004
|
74 |
4 |
p. 745-751
7 p.
|
artikel
|
| 22 |
The Etruscans: A Population-Genetic Study
|
Vernesi, Cristiano
|
|
2004
|
74 |
4 |
p. 694-704
11 p.
|
artikel
|
| 23 |
The Western and Eastern Roots of the Saami—the Story of Genetic “Outliers” Told by Mitochondrial DNA and Y Chromosomes
|
Tambets, Kristiina
|
|
2004
|
74 |
4 |
p. 661-682
22 p.
|
artikel
|
| 24 |
This Month in the Journal
|
Garber, Kathryn
|
|
2004
|
74 |
4 |
p. i-ii
nvt p.
|
artikel
|
| 25 |
Variations in GABRA2, Encoding the α2 Subunit of the GABAA Receptor, Are Associated with Alcohol Dependence and with Brain Oscillations
|
Edenberg, Howard J.
|
|
2004
|
74 |
4 |
p. 705-714
10 p.
|
artikel
|
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