| 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 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.
|
|
|
2007
|
81 |
3 |
p. 638-640
3 p.
|
artikel
|
| 2 |
Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1
|
de Brouwer, Arjan P.M.
|
|
2007
|
81 |
3 |
p. 507-518
12 p.
|
artikel
|
| 3 |
ASHG Statement * on Direct-to-Consumer Genetic Testing in the United States
|
Hudson, Kathy
|
|
2007
|
81 |
3 |
p. 635-637
3 p.
|
artikel
|
| 4 |
CHMP4B, a Novel Gene for Autosomal Dominant Cataracts Linked to Chromosome 20q
|
Shiels, Alan
|
|
2007
|
81 |
3 |
p. 596-606
11 p.
|
artikel
|
| 5 |
Classification of Human Chromosome 21 Gene-Expression Variations in Down Syndrome: Impact on Disease Phenotypes
|
Aït Yahya-Graison, E.
|
|
2007
|
81 |
3 |
p. 475-491
17 p.
|
artikel
|
| 6 |
DLX5 and DLX6 Expression Is Biallelic and Not Modulated by MeCP2 Deficiency
|
Schüle, Birgitt
|
|
2007
|
81 |
3 |
p. 492-506
15 p.
|
artikel
|
| 7 |
Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study
|
Faivre, L.
|
|
2007
|
81 |
3 |
p. 454-466
13 p.
|
artikel
|
| 8 |
Erratum
|
|
|
2007
|
81 |
3 |
p. 634-
1 p.
|
artikel
|
| 9 |
Erratum
|
|
|
2007
|
81 |
3 |
p. 634-
1 p.
|
artikel
|
| 10 |
Evidence of Still-Ongoing Convergence Evolution of the Lactase Persistence T-13910 Alleles in Humans
|
Enattah, Nabil Sabri
|
|
2007
|
81 |
3 |
p. 615-625
11 p.
|
artikel
|
| 11 |
Flexible Design for Following Up Positive Findings
|
Yu, Kai
|
|
2007
|
81 |
3 |
p. 540-551
12 p.
|
artikel
|
| 12 |
Genomewide Weighted Hypothesis Testing in Family-Based Association Studies, with an Application to a 100K Scan
|
Ionita-Laza, Iuliana
|
|
2007
|
81 |
3 |
p. 607-614
8 p.
|
artikel
|
| 13 |
Identification of Genetic Variants Contributing to Cisplatin-Induced Cytotoxicity by Use of a Genomewide Approach
|
Huang, R. Stephanie
|
|
2007
|
81 |
3 |
p. 427-437
11 p.
|
artikel
|
| 14 |
Lethal Congenital Contractural Syndrome Type 2 (LCCS2) Is Caused by a Mutation in ERBB3 (Her3), a Modulator of the Phosphatidylinositol-3-Kinase/Akt Pathway
|
Narkis, Ginat
|
|
2007
|
81 |
3 |
p. 589-595
7 p.
|
artikel
|
| 15 |
Lethal Contractural Syndrome Type 3 (LCCS3) Is Caused by a Mutation in PIP5K1C, Which Encodes PIPKIγ of the Phophatidylinsitol Pathway
|
Narkis, Ginat
|
|
2007
|
81 |
3 |
p. 530-539
10 p.
|
artikel
|
| 16 |
Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5)
|
Kim, Hee-Jin
|
|
2007
|
81 |
3 |
p. 552-558
7 p.
|
artikel
|
| 17 |
NOBOX Homeobox Mutation Causes Premature Ovarian Failure
|
Qin, Yingying
|
|
2007
|
81 |
3 |
p. 576-581
6 p.
|
artikel
|
| 18 |
Oral Curcumin Mitigates the Clinical and Neuropathologic Phenotype of the Trembler-J Mouse: A Potential Therapy for Inherited Neuropathy
|
Khajavi, Mehrdad
|
|
2007
|
81 |
3 |
p. 438-453
16 p.
|
artikel
|
| 19 |
Physical Exercise–Induced Hypoglycemia Caused by Failed Silencing of Monocarboxylate Transporter 1 in Pancreatic β Cells
|
Otonkoski, Timo
|
|
2007
|
81 |
3 |
p. 467-474
8 p.
|
artikel
|
| 20 |
PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses
|
Purcell, Shaun
|
|
2007
|
81 |
3 |
p. 559-575
17 p.
|
artikel
|
| 21 |
Recent Genetic Selection in the Ancestral Admixture of Puerto Ricans
|
Tang, Hua
|
|
2007
|
81 |
3 |
p. 626-633
8 p.
|
artikel
|
| 22 |
The Genetics of Congenital Amusia (Tone Deafness): A Family-Aggregation Study
|
Peretz, Isabelle
|
|
2007
|
81 |
3 |
p. 582-588
7 p.
|
artikel
|
| 23 |
This Month in the Journal
|
Williamson, Robin E.
|
|
2007
|
81 |
3 |
p. i-ii
nvt p.
|
artikel
|
| 24 |
Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia–Anauxetic Dysplasia Spectrum
|
Thiel, Christian T.
|
|
2007
|
81 |
3 |
p. 519-529
11 p.
|
artikel
|
Tijdschrift beschrijving