| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Combined Genomewide Linkage Scan of 1,233 Families for Prostate Cancer–Susceptibility Genes Conducted by the International Consortium for Prostate Cancer Genetics
|
Xu, Jianfeng
|
|
2005
|
77 |
2 |
p. 219-229
11 p.
|
artikel
|
| 2 |
A “Fille du Roy” Introduced the T14484C Leber Hereditary Optic Neuropathy Mutation in French Canadians
|
Laberge, Anne-Marie
|
|
2005
|
77 |
2 |
p. 313-317
5 p.
|
artikel
|
| 3 |
A Genomewide Scan for Intelligence Identifies Quantitative Trait Loci on 2q and 6p
|
Posthuma, Danielle
|
|
2005
|
77 |
2 |
p. 318-326
9 p.
|
artikel
|
| 4 |
Allelic Heterogeneity at the Serotonin Transporter Locus (SLC6A4) Confers Susceptibility to Autism and Rigid-Compulsive Behaviors
|
Sutcliffe, James S.
|
|
2005
|
77 |
2 |
p. 265-279
15 p.
|
artikel
|
| 5 |
A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma
|
Sprecher, Eli
|
|
2005
|
77 |
2 |
p. 242-251
10 p.
|
artikel
|
| 6 |
A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy
|
Vorgerd, Matthias
|
|
2005
|
77 |
2 |
p. 297-304
8 p.
|
artikel
|
| 7 |
An Autosomal Dominant Cerebellar Ataxia Linked to Chromosome 16q22.1 Is Associated with a Single-Nucleotide Substitution in the 5′ Untranslated Region of the Gene Encoding a Protein with Spectrin Repeat and Rho Guanine-Nucleotide Exchange-Factor Domains
|
Ishikawa, Kinya
|
|
2005
|
77 |
2 |
p. 280-296
17 p.
|
artikel
|
| 8 |
Announcements 1 1. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please e-mail announcements 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.
|
|
|
2005
|
77 |
2 |
p. 335-336
2 p.
|
artikel
|
| 9 |
“Antley-Bixler Syndrome”—A Reply to Cragun and Hopkin
|
Miller, Walter L.
|
|
2005
|
77 |
2 |
p. 328-330
3 p.
|
artikel
|
| 10 |
Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome
|
Beysen, D.
|
|
2005
|
77 |
2 |
p. 205-218
14 p.
|
artikel
|
| 11 |
Dysregulation of Chondrogenesis in Human Cleidocranial Dysplasia
|
Zheng, Qiping
|
|
2005
|
77 |
2 |
p. 305-312
8 p.
|
artikel
|
| 12 |
Erratum
|
|
|
2005
|
77 |
2 |
p. 334-
1 p.
|
artikel
|
| 13 |
Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations
|
Tatton-Brown, Katrina
|
|
2005
|
77 |
2 |
p. 193-204
12 p.
|
artikel
|
| 14 |
Guide to Mutation Detection
|
Coffee, Bradford
|
|
2005
|
77 |
2 |
p. 333-
1 p.
|
artikel
|
| 15 |
How Malaria Has Affected the Human Genome and What Human Genetics Can Teach Us about Malaria
|
Kwiatkowski, Dominic P.
|
|
2005
|
77 |
2 |
p. 171-192
22 p.
|
artikel
|
| 16 |
Identification of Risk and Age-at-Onset Genes on Chromosome 1p in Parkinson Disease
|
Oliveira, Sofia A.
|
|
2005
|
77 |
2 |
p. 252-264
13 p.
|
artikel
|
| 17 |
LRRK2 Haplotype Analyses in European and North African Families with Parkinson Disease: A Common Founder for the G2019S Mutation Dating from the 13th Century
|
Lesage, Suzanne
|
|
2005
|
77 |
2 |
p. 330-332
3 p.
|
artikel
|
| 18 |
This Month in the Journal
|
Garber, Kathryn
|
|
2005
|
77 |
2 |
p. i-ii
nvt p.
|
artikel
|
| 19 |
Use of the Term “Antley-Bixler Syndrome”: Minimizing Confusion
|
Cragun, Deborah
|
|
2005
|
77 |
2 |
p. 327-328
2 p.
|
artikel
|
| 20 |
Weighting Affected Sib Pairs by Marker Informativity
|
Franke, Daniel
|
|
2005
|
77 |
2 |
p. 230-241
12 p.
|
artikel
|
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