| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Bayesian Approach to Copy-Number–Polymorphism Analysis in Nuclear Pedigrees
|
Kosta, Konstantina
|
|
2007
|
81 |
4 |
p. 808-812
5 p.
|
artikel
|
| 2 |
A Chromosome 11q Quantitative-Trait Locus Influences Change of Blood-Pressure Measurements over Time in Mexican Americans of the San Antonio Family Heart Study
|
Rutherford, Sue
|
|
2007
|
81 |
4 |
p. 744-755
12 p.
|
artikel
|
| 3 |
A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation
|
Motazacker, Mohammad Mahdi
|
|
2007
|
81 |
4 |
p. 792-798
7 p.
|
artikel
|
| 4 |
A Half Century of Medical Genetics—Where Do We Go from Here? *
|
Rimoin, David L.
|
|
2007
|
81 |
4 |
p. 670-672
3 p.
|
artikel
|
| 5 |
A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2
|
Amr, Sami
|
|
2007
|
81 |
4 |
p. 673-683
11 p.
|
artikel
|
| 6 |
Allele-Specific Targeting of microRNAs to HLA-G and Risk of Asthma
|
Tan, Zheng
|
|
2007
|
81 |
4 |
p. 829-834
6 p.
|
artikel
|
| 7 |
An LRP8 Variant Is Associated with Familial and Premature Coronary Artery Disease and Myocardial Infarction
|
Shen, Gong-Qing
|
|
2007
|
81 |
4 |
p. 780-791
12 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@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 |
4 |
p. 870-871
2 p.
|
artikel
|
| 9 |
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome
|
Rice, Gillian
|
|
2007
|
81 |
4 |
p. 713-725
13 p.
|
artikel
|
| 10 |
Common Variants in the BMP2, BMP4, and HJV Genes of the Hepcidin Regulation Pathway Modulate HFE Hemochromatosis Penetrance
|
Milet, Jacqueline
|
|
2007
|
81 |
4 |
p. 799-807
9 p.
|
artikel
|
| 11 |
Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation
|
Wagenstaller, Janine
|
|
2007
|
81 |
4 |
p. 768-779
12 p.
|
artikel
|
| 12 |
2006 Cotterman Award Winners
|
|
|
2007
|
81 |
4 |
p. 641-
1 p.
|
artikel
|
| 13 |
Cowden Syndrome–Affected Patients with PTEN Promoter Mutations Demonstrate Abnormal Protein Translation
|
Teresi, Rosemary E.
|
|
2007
|
81 |
4 |
p. 756-767
12 p.
|
artikel
|
| 14 |
Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia
|
Edvardson, Simon
|
|
2007
|
81 |
4 |
p. 857-862
6 p.
|
artikel
|
| 15 |
GeneTests: Integrating Genetic Services into Patient Care *
|
Pagon, Roberta A.
|
|
2007
|
81 |
4 |
p. 658-659
2 p.
|
artikel
|
| 16 |
Geographically Separate Increases in the Frequency of the Derived ADH1B*47His Allele in Eastern and Western Asia
|
Li, Hui
|
|
2007
|
81 |
4 |
p. 842-846
5 p.
|
artikel
|
| 17 |
Having It All *
|
Warburton, Dorothy
|
|
2007
|
81 |
4 |
p. 648-656
9 p.
|
artikel
|
| 18 |
Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia
|
Dam, Anika H.D.M.
|
|
2007
|
81 |
4 |
p. 813-820
8 p.
|
artikel
|
| 19 |
Impact of Array Comparative Genomic Hybridization–Derived Information on Genetic Counseling Demonstrated by Prenatal Diagnosis of the TAR (Thrombocytopenia-Absent-Radius) Syndrome–Associated Microdeletion 1q21.1
|
Uhrig, Sabine
|
|
2007
|
81 |
4 |
p. 866-868
3 p.
|
artikel
|
| 20 |
Introductory Speech for David L. Rimoin *
|
Kaback, Michael
|
|
2007
|
81 |
4 |
p. 668-669
2 p.
|
artikel
|
| 21 |
Introductory Speech for Dorothy Warburton *
|
Jacobs, Patricia A.
|
|
2007
|
81 |
4 |
p. 646-647
2 p.
|
artikel
|
| 22 |
Introductory Speech for Hal Dietz *
|
McKusick, Victor A.
|
|
2007
|
81 |
4 |
p. 660-661
2 p.
|
artikel
|
| 23 |
Introductory Speech for Roberta A. Pagon *
|
Hirschhorn, Kurt
|
|
2007
|
81 |
4 |
p. 657-
1 p.
|
artikel
|
| 24 |
Marfan Syndrome: From Molecules to Medicines *
|
Dietz, Harry C.
|
|
2007
|
81 |
4 |
p. 662-667
6 p.
|
artikel
|
| 25 |
Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia
|
Adaimy, Lynn
|
|
2007
|
81 |
4 |
p. 821-828
8 p.
|
artikel
|
| 26 |
Mutations in CD96, a Member of the Immunoglobulin Superfamily, Cause a Form of the C (Opitz Trigonocephaly) Syndrome
|
Kaname, Tadashi
|
|
2007
|
81 |
4 |
p. 835-841
7 p.
|
artikel
|
| 27 |
Our Society and the Scientist-Citizen *
|
Warren, Stephen T.
|
|
2007
|
81 |
4 |
p. 642-645
4 p.
|
artikel
|
| 28 |
Reply to Peter Kraft and Daniel O. Stram
|
Lin, D.Y.
|
|
2007
|
81 |
4 |
p. 865-866
2 p.
|
artikel
|
| 29 |
Re: The Use of Inferred Haplotypes in Downstream Analysis
|
Kraft, Peter
|
|
2007
|
81 |
4 |
p. 863-865
3 p.
|
artikel
|
| 30 |
Simultaneous Discovery and Testing of Deletions for Disease Association in SNP Genotyping Studies
|
Kohler, Jared R.
|
|
2007
|
81 |
4 |
p. 684-699
16 p.
|
artikel
|
| 31 |
Simultaneously Correcting for Population Stratification and for Genotyping Error in Case-Control Association Studies
|
Cheng, K.F.
|
|
2007
|
81 |
4 |
p. 726-743
18 p.
|
artikel
|
| 32 |
TBX22 Missense Mutations Found in Patients with X-Linked Cleft Palate Affect DNA Binding, Sumoylation, and Transcriptional Repression
|
Andreou, Artemisia M.
|
|
2007
|
81 |
4 |
p. 700-712
13 p.
|
artikel
|
| 33 |
The Variant inv(2)(p11.2q13) Is a Genuinely Recurrent Rearrangement but Displays Some Breakpoint Heterogeneity
|
Fickelscher, Ina
|
|
2007
|
81 |
4 |
p. 847-856
10 p.
|
artikel
|
| 34 |
The World of AJHG
|
Boughman, Joann
|
|
2007
|
81 |
4 |
p. 869-
1 p.
|
artikel
|
| 35 |
This Month in the Journal
|
Williamson, Robin E.
|
|
2007
|
81 |
4 |
p. i-ii
nvt p.
|
artikel
|
Tijdschrift beschrijving