| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Accommodating Chromosome Inversions in Linkage Analysis
|
Chen, Gary K.
|
|
2006
|
79 |
2 |
p. 238-251
14 p.
|
artikel
|
| 2 |
A Coalescence-Guided Hierarchical Bayesian Method for Haplotype Inference
|
Zhang, Yu
|
|
2006
|
79 |
2 |
p. 313-322
10 p.
|
artikel
|
| 3 |
A Geographically Explicit Genetic Model of Worldwide Human-Settlement History
|
Liu, Hua
|
|
2006
|
79 |
2 |
p. 230-237
8 p.
|
artikel
|
| 4 |
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@ajhg.net. 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.
|
|
|
2006
|
79 |
2 |
p. 416-417
2 p.
|
artikel
|
| 5 |
ASHG Honors Its Own
|
Boughman, Joann A.
|
|
2006
|
79 |
2 |
p. 415-
1 p.
|
artikel
|
| 6 |
Characterization of SHOX Deletions in Léri-Weill Dyschondrosteosis (LWD) Reveals Genetic Heterogeneity and No Recombination Hotspots
|
Benito-Sanz, Sara
|
|
2006
|
79 |
2 |
p. 409-414
6 p.
|
artikel
|
| 7 |
Epigenetic Regulation of Human γ-Glutamyl Hydrolase Activity in Acute Lymphoblastic Leukemia Cells
|
Cheng, Qing
|
|
2006
|
79 |
2 |
p. 264-274
11 p.
|
artikel
|
| 8 |
Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit
|
Hoffmann, Katrin
|
|
2006
|
79 |
2 |
p. 303-312
10 p.
|
artikel
|
| 9 |
Evidence That Translation Reinitiation Leads to a Partially Functional Menkes Protein Containing Two Copper-Binding Sites
|
Paulsen, Marianne
|
|
2006
|
79 |
2 |
p. 214-229
16 p.
|
artikel
|
| 10 |
Genomewide Association Analysis of Human Narcolepsy and a New Resistance Gene
|
Kawashima, Minae
|
|
2006
|
79 |
2 |
p. 252-263
12 p.
|
artikel
|
| 11 |
Homozygous Nonsense Mutation in the FOXE3 Gene as a Cause of Congenital Primary Aphakia in Humans
|
Valleix, Sophie
|
|
2006
|
79 |
2 |
p. 358-364
7 p.
|
artikel
|
| 12 |
Increased Sensitivity of the Neuronal Nicotinic Receptor α2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear
|
Aridon, Paolo
|
|
2006
|
79 |
2 |
p. 342-350
9 p.
|
artikel
|
| 13 |
Introduction
|
Motulsky, Arno G.
|
|
2006
|
79 |
2 |
p. 193-
1 p.
|
artikel
|
| 14 |
Linkage Analysis Using Co-Phenotypes in the BRIGHT Study Reveals Novel Potential Susceptibility Loci for Hypertension
|
Wallace, Chris
|
|
2006
|
79 |
2 |
p. 323-331
9 p.
|
artikel
|
| 15 |
Linkage Disequilibrium and Heritability of Copy-Number Polymorphisms within Duplicated Regions of the Human Genome
|
Locke, Devin P.
|
|
2006
|
79 |
2 |
p. 275-290
16 p.
|
artikel
|
| 16 |
Linkage of Monogenic Infantile Hypertrophic Pyloric Stenosis to Chromosome 16p12-p13 and Evidence for Genetic Heterogeneity
|
Capon, Francesca
|
|
2006
|
79 |
2 |
p. 378-382
5 p.
|
artikel
|
| 17 |
Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome
|
Kleefstra, Tjitske
|
|
2006
|
79 |
2 |
p. 370-377
8 p.
|
artikel
|
| 18 |
Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations
|
Guan, Min-Xin
|
|
2006
|
79 |
2 |
p. 291-302
12 p.
|
artikel
|
| 19 |
Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome
|
Morgan, Neil V.
|
|
2006
|
79 |
2 |
p. 390-395
6 p.
|
artikel
|
| 20 |
Mutations in the Novel Mitochondrial Protein REEP1 Cause Hereditary Spastic Paraplegia Type 31
|
Züchner, Stephan
|
|
2006
|
79 |
2 |
p. 365-369
5 p.
|
artikel
|
| 21 |
Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome
|
Woods, C.G.
|
|
2006
|
79 |
2 |
p. 402-408
7 p.
|
artikel
|
| 22 |
Reply to Benito-Sanz et al.
|
Zinn, Andrew R.
|
|
2006
|
79 |
2 |
p. 414-
1 p.
|
artikel
|
| 23 |
Sequencing of the Reannotated LMNB2 Gene Reveals Novel Mutations in Patients with Acquired Partial Lipodystrophy
|
Hegele, Robert A.
|
|
2006
|
79 |
2 |
p. 383-389
7 p.
|
artikel
|
| 24 |
Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes
|
Merla, Giuseppe
|
|
2006
|
79 |
2 |
p. 332-341
10 p.
|
artikel
|
| 25 |
The Affected-/Discordant-Sib-Pair Design Can Guarantee Validity of Multipoint Model-Free Linkage Analysis of Incomplete Pedigrees When There Is Marker-Marker Disequilibrium
|
Xing, Chao
|
|
2006
|
79 |
2 |
p. 396-401
6 p.
|
artikel
|
| 26 |
The Alexander Disease–Causing Glial Fibrillary Acidic Protein Mutant, R416W, Accumulates into Rosenthal Fibers by a Pathway That Involves Filament Aggregation and the Association of αB-Crystallin and HSP27
|
Perng, Ming Der
|
|
2006
|
79 |
2 |
p. 197-213
17 p.
|
artikel
|
| 27 |
This Month in the Journal
|
Williamson, Robin E.
|
|
2006
|
79 |
2 |
p. i-ii
nvt p.
|
artikel
|
| 28 |
To Reveal the Genomes
|
Sinsheimer, Robert L.
|
|
2006
|
79 |
2 |
p. 194-196
3 p.
|
artikel
|
| 29 |
ZFYVE27 (SPG33), a Novel Spastin-Binding Protein, Is Mutated in Hereditary Spastic Paraplegia
|
Mannan, Ashraf U.
|
|
2006
|
79 |
2 |
p. 351-357
7 p.
|
artikel
|
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