| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Bayesian Measure of the Probability of False Discovery in Genetic Epidemiology Studies
|
Wakefield, Jon
|
|
2007
|
81 |
2 |
p. 208-227
20 p.
|
artikel
|
| 2 |
A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome)
|
Kato, Mitsuhiro
|
|
2007
|
81 |
2 |
p. 361-366
6 p.
|
artikel
|
| 3 |
A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN
|
Lehmann, K.
|
|
2007
|
81 |
2 |
p. 388-396
9 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.
|
|
|
2007
|
81 |
2 |
p. 424-426
3 p.
|
artikel
|
| 5 |
Bayesian Mapping of Quantitative Trait Loci for Multiple Complex Traits with the Use of Variance Components
|
Liu, Jianfeng
|
|
2007
|
81 |
2 |
p. 304-320
17 p.
|
artikel
|
| 6 |
Case-Control Association Testing with Related Individuals: A More Powerful Quasi-Likelihood Score Test
|
Thornton, Timothy
|
|
2007
|
81 |
2 |
p. 321-337
17 p.
|
artikel
|
| 7 |
Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background
|
Hudson, Gavin
|
|
2007
|
81 |
2 |
p. 228-233
6 p.
|
artikel
|
| 8 |
Combining Evidence of Natural Selection with Association Analysis Increases Power to Detect Malaria-Resistance Variants
|
Ayodo, George
|
|
2007
|
81 |
2 |
p. 234-242
9 p.
|
artikel
|
| 9 |
Copy-Number Variations and Human Disease
|
Hegele, Robert A.
|
|
2007
|
81 |
2 |
p. 414-415
2 p.
|
artikel
|
| 10 |
Deficiency of the α Subunit of Succinate–Coenzyme A Ligase Causes Fatal Infantile Lactic Acidosis with Mitochondrial DNA Depletion
|
Ostergaard, Elsebet
|
|
2007
|
81 |
2 |
p. 383-387
5 p.
|
artikel
|
| 11 |
Enriching the Analysis of Genomewide Association Studies with Hierarchical Modeling
|
Chen, Gary K.
|
|
2007
|
81 |
2 |
p. 397-404
8 p.
|
artikel
|
| 12 |
Evolutionary Conservation of a Coding Function for D4Z4, the Tandem DNA Repeat Mutated in Facioscapulohumeral Muscular Dystrophy
|
Clapp, Jannine
|
|
2007
|
81 |
2 |
p. 264-279
16 p.
|
artikel
|
| 13 |
Human microRNA-155 on Chromosome 21 Differentially Interacts with Its Polymorphic Target in the AGTR1 3′ Untranslated Region: A Mechanism for Functional Single-Nucleotide Polymorphisms Related to Phenotypes
|
Sethupathy, Praveen
|
|
2007
|
81 |
2 |
p. 405-413
9 p.
|
artikel
|
| 14 |
Looking Back; Moving Forward
|
Boughman, Joann
|
|
2007
|
81 |
2 |
p. 422-423
2 p.
|
artikel
|
| 15 |
Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum
|
Boland, Elena
|
|
2007
|
81 |
2 |
p. 292-303
12 p.
|
artikel
|
| 16 |
Molecular Dissection of Isolated Disease Features in Mosaic Neurofibromatosis Type 1
|
Maertens, Ophélia
|
|
2007
|
81 |
2 |
p. 243-251
9 p.
|
artikel
|
| 17 |
Mutations in Cardiac T-Box Factor Gene TBX20 Are Associated with Diverse Cardiac Pathologies, Including Defects of Septation and Valvulogenesis and Cardiomyopathy
|
Kirk, Edwin P.
|
|
2007
|
81 |
2 |
p. 280-291
12 p.
|
artikel
|
| 18 |
Mutations in the BRWD3 Gene Cause X-Linked Mental Retardation Associated with Macrocephaly
|
Field, Michael
|
|
2007
|
81 |
2 |
p. 367-374
8 p.
|
artikel
|
| 19 |
Natural Gene-Expression Variation in Down Syndrome Modulates the Outcome of Gene-Dosage Imbalance
|
Prandini, Paola
|
|
2007
|
81 |
2 |
p. 252-263
12 p.
|
artikel
|
| 20 |
New Perspectives for the Elucidation of Genetic Disorders
|
Ropers, Hans-Hilger
|
|
2007
|
81 |
2 |
p. 199-207
9 p.
|
artikel
|
| 21 |
Numbers of Copy-Number Variations and False-Negative Rates Will Be Underestimated If We Do Not Account for the Dependence between Repeated Experiments
|
Lynch, Andy G.
|
|
2007
|
81 |
2 |
p. 418-419
2 p.
|
artikel
|
| 22 |
Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional Effects
|
Ellard, Sian
|
|
2007
|
81 |
2 |
p. 375-382
8 p.
|
artikel
|
| 23 |
Reply to Dr. Robert A. Hegele
|
Wong, Kendy K.
|
|
2007
|
81 |
2 |
p. 415-
1 p.
|
artikel
|
| 24 |
Reply to Lynch et al.
|
deLeeuw, Ronald J.
|
|
2007
|
81 |
2 |
p. 420-
1 p.
|
artikel
|
| 25 |
Sequence-Based Prioritization of Nonsynonymous Single-Nucleotide Polymorphisms for the Study of Disease Mutations
|
Jiang, Rui
|
|
2007
|
81 |
2 |
p. 346-360
15 p.
|
artikel
|
| 26 |
TAF1 as the Most Plausible Disease Gene for XDP/DYT3
|
Tamiya, Gen
|
|
2007
|
81 |
2 |
p. 417-418
2 p.
|
artikel
|
| 27 |
The TAF1/DYT3 Multiple Transcript System in X-Linked Dystonia-Parkinsonism
|
Müller, Ulrich
|
|
2007
|
81 |
2 |
p. 415-416
2 p.
|
artikel
|
| 28 |
This Month in the Journal
|
Williamson, Robin E.
|
|
2007
|
81 |
2 |
p. i-ii
nvt p.
|
artikel
|
| 29 |
Type 2 Diabetes Whole-Genome Association Study in Four Populations: The DiaGen Consortium
|
Salonen, Jukka T.
|
|
2007
|
81 |
2 |
p. 338-345
8 p.
|
artikel
|
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