| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Admixture Mapping of an Allele Affecting Interleukin 6 Soluble Receptor and Interleukin 6 Levels
|
Reich, David
|
|
2007
|
80 |
4 |
p. 716-726
11 p.
|
artikel
|
| 2 |
A Genetic Association Study of Chromosome 11q22-24 in Two Different Samples Implicates the FXYD6 Gene, Encoding Phosphohippolin, in Susceptibility to Schizophrenia
|
Choudhury, Khalid
|
|
2007
|
80 |
4 |
p. 664-672
9 p.
|
artikel
|
| 3 |
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
|
80 |
4 |
p. 818-821
4 p.
|
artikel
|
| 4 |
Assessing the Functional Characteristics of Synonymous and Nonsynonymous Mutation Candidates by Use of Large DNA Constructs
|
Eeds, A.M.
|
|
2007
|
80 |
4 |
p. 740-750
11 p.
|
artikel
|
| 5 |
Association Mapping via Regularized Regression Analysis of Single-Nucleotide–Polymorphism Haplotypes in Variable-Sized Sliding Windows
|
Li, Yi
|
|
2007
|
80 |
4 |
p. 705-715
11 p.
|
artikel
|
| 6 |
Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype
|
Potocki, Lorraine
|
|
2007
|
80 |
4 |
p. 633-649
17 p.
|
artikel
|
| 7 |
Congress 110
|
Boughman, Joann A.
|
|
2007
|
80 |
4 |
p. 817-
1 p.
|
artikel
|
| 8 |
Disruption of Diacylglycerol Kinase Delta (DGKD) Associated with Seizures in Humans and Mice
|
Leach, Natalia T.
|
|
2007
|
80 |
4 |
p. 792-799
8 p.
|
artikel
|
| 9 |
Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux
|
Lu, Weining
|
|
2007
|
80 |
4 |
p. 616-632
17 p.
|
artikel
|
| 10 |
Erratum
|
|
|
2007
|
80 |
4 |
p. 816-
1 p.
|
artikel
|
| 11 |
Filamin A Is Mutated in X-Linked Chronic Idiopathic Intestinal Pseudo-Obstruction with Central Nervous System Involvement
|
Gargiulo, Annagiusi
|
|
2007
|
80 |
4 |
p. 751-758
8 p.
|
artikel
|
| 12 |
Genetic Analysis of 103 Candidate Genes for Coronary Artery Disease and Associated Phenotypes in a Founder Population Reveals a New Association between Endothelin-1 and High-Density Lipoprotein Cholesterol
|
Paré, Guillaume
|
|
2007
|
80 |
4 |
p. 673-682
10 p.
|
artikel
|
| 13 |
Germline Mutation of INI1/SMARCB1 in Familial Schwannomatosis
|
Hulsebos, Theo J.M.
|
|
2007
|
80 |
4 |
p. 805-810
6 p.
|
artikel
|
| 14 |
Heterozygous Mutations in TREX1 Cause Familial Chilblain Lupus and Dominant Aicardi-Goutières Syndrome
|
Rice, Gillian
|
|
2007
|
80 |
4 |
p. 811-815
5 p.
|
artikel
|
| 15 |
Identification of a Novel Risk Locus for Progressive Supranuclear Palsy by a Pooled Genomewide Scan of 500,288 Single-Nucleotide Polymorphisms
|
Melquist, Stacey
|
|
2007
|
80 |
4 |
p. 769-778
10 p.
|
artikel
|
| 16 |
Leveraging the HapMap Correlation Structure in Association Studies
|
Zaitlen, Noah
|
|
2007
|
80 |
4 |
p. 683-691
9 p.
|
artikel
|
| 17 |
Medical Sequencing at the Extremes of Human Body Mass
|
Ahituv, Nadav
|
|
2007
|
80 |
4 |
p. 779-791
13 p.
|
artikel
|
| 18 |
Mendelian Inheritance in Man and Its Online Version, OMIM
|
McKusick, Victor A.
|
|
2007
|
80 |
4 |
p. 588-604
17 p.
|
artikel
|
| 19 |
Mitochondrial DNA Variation of Modern Tuscans Supports the Near Eastern Origin of Etruscans
|
Achilli, Alessandro
|
|
2007
|
80 |
4 |
p. 759-768
10 p.
|
artikel
|
| 20 |
Most Rare Missense Alleles Are Deleterious in Humans: Implications for Complex Disease and Association Studies
|
Kryukov, Gregory V.
|
|
2007
|
80 |
4 |
p. 727-739
13 p.
|
artikel
|
| 21 |
Overcoming the Winner’s Curse: Estimating Penetrance Parameters from Case-Control Data
|
Zöllner, Sebastian
|
|
2007
|
80 |
4 |
p. 605-615
11 p.
|
artikel
|
| 22 |
Peakwide Mapping on Chromosome 3q13 Identifies the Kalirin Gene as a Novel Candidate Gene for Coronary Artery Disease
|
Wang, Liyong
|
|
2007
|
80 |
4 |
p. 650-663
14 p.
|
artikel
|
| 23 |
Robert J. Gorlin, 1923–2006: Evolution of His Phenotype
|
Cohen, M. Michael
|
|
2007
|
80 |
4 |
p. 585-587
3 p.
|
artikel
|
| 24 |
The Strength of Selection on Ultraconserved Elements in the Human Genome
|
Chen, Christina T.L.
|
|
2007
|
80 |
4 |
p. 692-704
13 p.
|
artikel
|
| 25 |
This Month in the Journal
|
Williamson, Robin E.
|
|
2007
|
80 |
4 |
p. i-ii
nvt p.
|
artikel
|
| 26 |
Transcription Factor SIX5 Is Mutated in Patients with Branchio-Oto-Renal Syndrome
|
Hoskins, Bethan E.
|
|
2007
|
80 |
4 |
p. 800-804
5 p.
|
artikel
|
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