| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Genomewide Scan Identifies Two Novel Loci Involved in Specific Language Impairment* * Members of the consortium are listed in the Appendix.
|
Consortium, The SLI
|
|
2002
|
70 |
2 |
p. 384-398
15 p.
|
artikel
|
| 2 |
A Genomewide Search for Type 2 Diabetes–Susceptibility Genes in Indigenous Australians
|
Busfield, Frances
|
|
2002
|
70 |
2 |
p. 349-357
9 p.
|
artikel
|
| 3 |
A 117-kb Microdeletion Removing HOXD9–HOXD13 and EVX2 Causes Synpolydactyly
|
Goodman, Frances R.
|
|
2002
|
70 |
2 |
p. 547-555
9 p.
|
artikel
|
| 4 |
… And Know the Place for the First Time* * Previously presented at the annual meeting of The American Society of Human Genetics, in San Diego, on October 16, 2001.
|
Scriver, Charles R.
|
|
2002
|
70 |
2 |
p. 317-323
7 p.
|
artikel
|
| 5 |
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.
|
|
|
2002
|
70 |
2 |
p. 560-564
5 p.
|
artikel
|
| 6 |
A Perspective on Epistasis: Limits of Models Displaying No Main Effect
|
Culverhouse, Robert
|
|
2002
|
70 |
2 |
p. 461-471
11 p.
|
artikel
|
| 7 |
A Score-Statistic Approach for the Mapping of Quantitative-Trait Loci with Sibships of Arbitrary Size
|
Wang, K.
|
|
2002
|
70 |
2 |
p. 412-424
13 p.
|
artikel
|
| 8 |
A Statistical Method for Identification of Polymorphisms That Explain a Linkage Result
|
Sun, Lei
|
|
2002
|
70 |
2 |
p. 399-411
13 p.
|
artikel
|
| 9 |
Complex Signatures of Natural Selection at the Duffy Blood Group Locus
|
Hamblin, Martha T.
|
|
2002
|
70 |
2 |
p. 369-383
15 p.
|
artikel
|
| 10 |
Detection and Integration of Genotyping Errors in Statistical Genetics
|
Sobel, Eric
|
|
2002
|
70 |
2 |
p. 496-508
13 p.
|
artikel
|
| 11 |
Digenic Inheritance of Early-Onset Glaucoma: CYP1B1, a Potential Modifier Gene
|
Vincent, Andrea L.
|
|
2002
|
70 |
2 |
p. 448-460
13 p.
|
artikel
|
| 12 |
Erratum
|
|
|
2002
|
70 |
2 |
p. 565-
1 p.
|
artikel
|
| 13 |
Evidence for Linkage of Stature to Chromosome 3p26 in a Large U.K. Family Data Set Ascertained for Type 2 Diabetes
|
Wiltshire, Steven
|
|
2002
|
70 |
2 |
p. 543-546
4 p.
|
artikel
|
| 14 |
From Down Syndrome to the “Human” in “Human Genetics”* * Previously presented at the annual meeting of The American Society of Human Genetics, in San Diego, on October 15, 2001.
|
Epstein, Charles J.
|
|
2002
|
70 |
2 |
p. 300-313
14 p.
|
artikel
|
| 15 |
Gdnf Haploinsufficiency Causes Hirschsprung-Like Intestinal Obstruction and Early-Onset Lethality in Mice
|
Shen, Liya
|
|
2002
|
70 |
2 |
p. 435-447
13 p.
|
artikel
|
| 16 |
Genomewide Search for Type 2 Diabetes Mellitus Susceptibility Loci in Finnish Families: The Botnia Study
|
Lindgren, C.M.
|
|
2002
|
70 |
2 |
p. 509-516
8 p.
|
artikel
|
| 17 |
Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis
|
Kan, Shih-hsin
|
|
2002
|
70 |
2 |
p. 472-486
15 p.
|
artikel
|
| 18 |
HLODs Remain Powerful Tools for Detection of Linkage in the Presence of Genetic Heterogeneity
|
Hodge, Susan E.
|
|
2002
|
70 |
2 |
p. 556-558
3 p.
|
artikel
|
| 19 |
Inherited Interleukin-12 Deficiency: IL12B Genotype and Clinical Phenotype of 13 Patients from Six Kindreds
|
Picard, Capucine
|
|
2002
|
70 |
2 |
p. 336-348
13 p.
|
artikel
|
| 20 |
Introductory Speech for Charles J. Epstein* * Previously presented at the annual meeting of The American Society of Human Genetics, in San Diego, on October 15, 2001.
|
Motulsky, Arno G.
|
|
2002
|
70 |
2 |
p. 297-299
3 p.
|
artikel
|
| 21 |
Introductory Speech for Charles Scriver* * Amended from the introduction previously presented at the annual meeting of The American Society of Human Genetics, in San Diego, on October 16, 2001.
|
Valle, David
|
|
2002
|
70 |
2 |
p. 314-316
3 p.
|
artikel
|
| 22 |
Linkage of Paget Disease of Bone to a Novel Region on Human Chromosome 18q23
|
Good, David A.
|
|
2002
|
70 |
2 |
p. 517-525
9 p.
|
artikel
|
| 23 |
Mutations in a Novel CLN6-Encoded Transmembrane Protein Cause Variant Neuronal Ceroid Lipofuscinosis in Man and Mouse
|
Gao, Hanlin
|
|
2002
|
70 |
2 |
p. 324-335
12 p.
|
artikel
|
| 24 |
Nonpaternity in Linkage Studies of Extremely Discordant Sib Pairs
|
Neale, Michael C.
|
|
2002
|
70 |
2 |
p. 526-529
4 p.
|
artikel
|
| 25 |
On Black Boxes and Storytellers: Lessons Learned in Human Genetics* * Previously presented at the annual meeting of The American Society of Human Genetics, in San Diego, on October 13, 2001.
|
Willard, Huntington F.
|
|
2002
|
70 |
2 |
p. 285-296
12 p.
|
artikel
|
| 26 |
Probability of Detection of Genotyping Errors and Mutations as Inheritance Inconsistencies in Nuclear-Family Data
|
Douglas, Julie A.
|
|
2002
|
70 |
2 |
p. 487-495
9 p.
|
artikel
|
| 27 |
Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy
|
Feldkötter, Markus
|
|
2002
|
70 |
2 |
p. 358-368
11 p.
|
artikel
|
| 28 |
Reply to Hodge et al.
|
Whittemore, Alice S.
|
|
2002
|
70 |
2 |
p. 558-559
2 p.
|
artikel
|
| 29 |
Score Tests for Association between Traits and Haplotypes when Linkage Phase Is Ambiguous
|
Schaid, Daniel J.
|
|
2002
|
70 |
2 |
p. 425-434
10 p.
|
artikel
|
| 30 |
The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein
|
Wheeler, Ruth B.
|
|
2002
|
70 |
2 |
p. 537-542
6 p.
|
artikel
|
| 31 |
This Month in the Journal
|
Beauregard, Kathryn
|
|
2002
|
70 |
2 |
p. i-ii
nvt p.
|
artikel
|
| 32 |
Truncation of the GABAA-Receptor γ2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus
|
Harkin, Louise A.
|
|
2002
|
70 |
2 |
p. 530-536
7 p.
|
artikel
|
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