nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Accumulation of Mitochondrial DNA Mutations in Human Immunodeficiency Virus–Infected Patients Treated with Nucleoside-Analogue Reverse-Transcriptase Inhibitors
|
Martin, Annalise M. |
|
2003 |
72 |
3 |
p. 549-560 12 p. |
artikel |
2 |
Announcements 1 1. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Room 301, Atlanta, GA 30322-3050; fax them to (404) 712-9984; or send via E-mail to ajhg@emory.edu. 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.
|
|
|
2003 |
72 |
3 |
p. 775-778 4 p. |
artikel |
3 |
A Novel NOD2/CARD15 Haplotype Conferring Risk for Crohn Disease in Ashkenazi Jews
|
Sugimura, Kazuhito |
|
2003 |
72 |
3 |
p. 509-518 10 p. |
artikel |
4 |
A Tobit Variance-Component Method for Linkage Analysis of Censored Trait Data
|
Epstein, Michael P. |
|
2003 |
72 |
3 |
p. 611-620 10 p. |
artikel |
5 |
Confirmation of Linkage of Prostate Cancer Aggressiveness with Chromosome 19q
|
Slager, S.L. |
|
2003 |
72 |
3 |
p. 759-762 4 p. |
artikel |
6 |
Epimutations in Prader-Willi and Angelman Syndromes: A Molecular Study of 136 Patients with an Imprinting Defect
|
Buiting, Karin |
|
2003 |
72 |
3 |
p. 571-577 7 p. |
artikel |
7 |
Erratum
|
|
|
2003 |
72 |
3 |
p. 779- 1 p. |
artikel |
8 |
Erratum
|
|
|
2003 |
72 |
3 |
p. 779- 1 p. |
artikel |
9 |
Erratum
|
|
|
2003 |
72 |
3 |
p. 780- 1 p. |
artikel |
10 |
Extensive Linkage Disequilibrium, a Common 16.7-Kilobase Deletion, and Evidence of Balancing Selection in the Human Protocadherin α Cluster
|
Noonan, James P. |
|
2003 |
72 |
3 |
p. 621-635 15 p. |
artikel |
11 |
Failure to Find DUP25 in Patients with Anxiety Disorders, in Control Individuals, or in Previously Reported Positive Control Cell Lines
|
Tabiner, Melody |
|
2003 |
72 |
3 |
p. 535-538 4 p. |
artikel |
12 |
Fine Mapping of Autistic Disorder to Chromosome 15q11-q13 by Use of Phenotypic Subtypes
|
Shao, Yujun |
|
2003 |
72 |
3 |
p. 539-548 10 p. |
artikel |
13 |
Genes and Mechanisms in Vertebrate Sex Determination, The Genetics and Biology of Sex Determination.
|
Opitz, John M. |
|
2003 |
72 |
3 |
p. 773-774 2 p. |
artikel |
14 |
HLA-DR2 Dose Effect on Susceptibility to Multiple Sclerosis and Influence on Disease Course
|
Barcellos, L.F. |
|
2003 |
72 |
3 |
p. 710-716 7 p. |
artikel |
15 |
Human Population Genetic Structure and Inference of Group Membership
|
Bamshad, Michael J. |
|
2003 |
72 |
3 |
p. 578-589 12 p. |
artikel |
16 |
Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2
|
Badano, José L. |
|
2003 |
72 |
3 |
p. 650-658 9 p. |
artikel |
17 |
Improving the Prediction of Complex Diseases by Testing for Multiple Disease-Susceptibility Genes
|
Yang, Quanhe |
|
2003 |
72 |
3 |
p. 636-649 14 p. |
artikel |
18 |
Informative Missingness in Genetic Association Studies: Case-Parent Designs
|
Allen, Andrew S. |
|
2003 |
72 |
3 |
p. 671-680 10 p. |
artikel |
19 |
Large Differences between LINE-1 Amplification Rates in the Human and Chimpanzee Lineages
|
Mathews, Lauren M. |
|
2003 |
72 |
3 |
p. 739-748 10 p. |
artikel |
20 |
Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2
|
Zollino, Marcella |
|
2003 |
72 |
3 |
p. 590-597 8 p. |
artikel |
21 |
Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes
|
Sung, Sandy S. |
|
2003 |
72 |
3 |
p. 681-690 10 p. |
artikel |
22 |
Mutations in PRKCSH Cause Isolated Autosomal Dominant Polycystic Liver Disease
|
Li, Airong |
|
2003 |
72 |
3 |
p. 691-703 13 p. |
artikel |
23 |
Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy
|
Verhoeven, Kristien |
|
2003 |
72 |
3 |
p. 722-727 6 p. |
artikel |
24 |
Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome
|
Ruiz-Perez, Victor L. |
|
2003 |
72 |
3 |
p. 728-732 5 p. |
artikel |
25 |
Overgrowth Syndromes.
|
Olney, Ann Haskins |
|
2003 |
72 |
3 |
p. 772-773 2 p. |
artikel |
26 |
Reciprocal and Nonreciprocal Recombination at the Glucocerebrosidase Gene Region: Implications for Complexity in Gaucher Disease
|
Tayebi, Nahid |
|
2003 |
72 |
3 |
p. 519-534 16 p. |
artikel |
27 |
SCA8 Repeat Expansion: Large CTA/CTG Repeat Alleles Are More Common in Ataxic Patients, Including Those with SCA6
|
Izumi, Yuishin |
|
2003 |
72 |
3 |
p. 704-709 6 p. |
artikel |
28 |
Six Novel Missense Mutations in the LDL Receptor-Related Protein 5 (LRP5) Gene in Different Conditions with an Increased Bone Density
|
Van Wesenbeeck, Liesbeth |
|
2003 |
72 |
3 |
p. 763-771 9 p. |
artikel |
29 |
The Constitutional t(17;22): Another Translocation Mediated by Palindromic AT-Rich Repeats
|
Kurahashi, Hiroki |
|
2003 |
72 |
3 |
p. 733-738 6 p. |
artikel |
30 |
The Genetic Legacy of the Mongols
|
Zerjal, Tatiana |
|
2003 |
72 |
3 |
p. 717-721 5 p. |
artikel |
31 |
The Pedigree Rate of Sequence Divergence in the Human Mitochondrial Genome: There Is a Difference Between Phylogenetic and Pedigree Rates
|
Howell, Neil |
|
2003 |
72 |
3 |
p. 659-670 12 p. |
artikel |
32 |
This Month in the Journal
|
Garber, Kathryn |
|
2003 |
72 |
3 |
p. i-ii nvt p. |
artikel |
33 |
Tissue-Specific Reduction in Splicing Efficiency of IKBKAP Due to the Major Mutation Associated with Familial Dysautonomia
|
Cuajungco, Math P. |
|
2003 |
72 |
3 |
p. 749-758 10 p. |
artikel |
34 |
Undetected Genotyping Errors Cause Apparent Overtransmission of Common Alleles in the Transmission/Disequilibrium Test
|
Mitchell, Adele A. |
|
2003 |
72 |
3 |
p. 598-610 13 p. |
artikel |
35 |
Use of Multivariate Linkage Analysis for Dissection of a Complex Cognitive Trait
|
Marlow, Angela J. |
|
2003 |
72 |
3 |
p. 561-570 10 p. |
artikel |