241 related articles for article (PubMed ID: 10090896)
1. Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31.
Blumenfeld A; Slaugenhaupt SA; Liebert CB; Temper V; Maayan C; Gill S; Lucente DE; Idelson M; MacCormack K; Monahan MA; Mull J; Leyne M; Mendillo M; Schiripo T; Mishori E; Breakefield X; Axelrod FB; Gusella JF
Am J Hum Genet; 1999 Apr; 64(4):1110-8. PubMed ID: 10090896
[TBL] [Abstract][Full Text] [Related]
2. Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.
Blumenfeld A; Slaugenhaupt SA; Axelrod FB; Lucente DE; Maayan C; Liebert CB; Ozelius LJ; Trofatter JA; Haines JL; Breakefield XO
Nat Genet; 1993 Jun; 4(2):160-4. PubMed ID: 8102296
[TBL] [Abstract][Full Text] [Related]
3. Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews.
Glaser B; Chiu KC; Liu L; Anker R; Nestorowicz A; Cox NJ; Landau H; Kaiser N; Thornton PS; Stanley CA
Hum Mol Genet; 1995 May; 4(5):879-86. PubMed ID: 7633448
[TBL] [Abstract][Full Text] [Related]
4. Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33.
Eng CM; Slaugenhaupt SA; Blumenfeld A; Axelrod FB; Gusella JF; Desnick RJ
Am J Med Genet; 1995 Nov; 59(3):349-55. PubMed ID: 8599360
[TBL] [Abstract][Full Text] [Related]
5. Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.
Diaz GA; Gelb BD; Risch N; Nygaard TG; Frisch A; Cohen IJ; Miranda CS; Amaral O; Maire I; Poenaru L; Caillaud C; Weizberg M; Mistry P; Desnick RJ
Am J Hum Genet; 2000 Jun; 66(6):1821-32. PubMed ID: 10777718
[TBL] [Abstract][Full Text] [Related]
6. The trimmed-haplotype test for linkage disequilibrium.
MacLean CJ; Martin RB; Sham PC; Wang H; Straub RE; Kendler KS
Am J Hum Genet; 2000 Mar; 66(3):1062-75. PubMed ID: 10712218
[TBL] [Abstract][Full Text] [Related]
7. Exclusion of familial dysautonomia from more than 60% of the genome.
Blumenfeld A; Axelrod FB; Trofatter JA; Maayan C; Lucente DE; Slaugenhaupt SA; Liebert CB; Ozelius LJ; Haines JL; Breakefield XO
J Med Genet; 1993 Jan; 30(1):47-52. PubMed ID: 8093738
[TBL] [Abstract][Full Text] [Related]
8. Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes.
Slaugenhaupt SA; Acierno JS; Helbling LA; Bove C; Goldin E; Bach G; Schiffmann R; Gusella JF
Am J Hum Genet; 1999 Sep; 65(3):773-8. PubMed ID: 10441585
[TBL] [Abstract][Full Text] [Related]
9. Transmission/disequilibrium tests for extended marker haplotypes.
Clayton D; Jones H
Am J Hum Genet; 1999 Oct; 65(4):1161-9. PubMed ID: 10486335
[TBL] [Abstract][Full Text] [Related]
10. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.
Slaugenhaupt SA; Blumenfeld A; Gill SP; Leyne M; Mull J; Cuajungco MP; Liebert CB; Chadwick B; Idelson M; Reznik L; Robbins C; Makalowska I; Brownstein M; Krappmann D; Scheidereit C; Maayan C; Axelrod FB; Gusella JF
Am J Hum Genet; 2001 Mar; 68(3):598-605. PubMed ID: 11179008
[TBL] [Abstract][Full Text] [Related]
11. Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.
Ozelius LJ; Kramer PL; de Leon D; Risch N; Bressman SB; Schuback DE; Brin MF; Kwiatkowski DJ; Burke RE; Gusella JF
Am J Hum Genet; 1992 Mar; 50(3):619-28. PubMed ID: 1347197
[TBL] [Abstract][Full Text] [Related]
12. Prenatal diagnostic testing for familial dysautonomia using linked genetic markers.
Oddoux C; Reich E; Axelrod F; Blumenfeld A; Maayan C; Slaugenhaupt S; Gusella J; Ostrer H
Prenat Diagn; 1995 Sep; 15(9):817-26. PubMed ID: 8559751
[TBL] [Abstract][Full Text] [Related]
13. Localization of the familial Mediterranean fever gene (FMF) to a 250-kb interval in non-Ashkenazi Jewish founder haplotypes. The French FMF Consortium.
Am J Hum Genet; 1996 Sep; 59(3):603-12. PubMed ID: 8751861
[TBL] [Abstract][Full Text] [Related]
14. Familial dysautonomia is caused by mutations of the IKAP gene.
Anderson SL; Coli R; Daly IW; Kichula EA; Rork MJ; Volpi SA; Ekstein J; Rubin BY
Am J Hum Genet; 2001 Mar; 68(3):753-8. PubMed ID: 11179021
[TBL] [Abstract][Full Text] [Related]
15. Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data.
Colombo R
Am J Hum Genet; 2000 Feb; 66(2):692-7. PubMed ID: 10677327
[TBL] [Abstract][Full Text] [Related]
16. Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype.
Cerosaletti KM; Lange E; Stringham HM; Weemaes CM; Smeets D; Sölder B; Belohradsky BH; Taylor AM; Karnes P; Elliott A; Komatsu K; Gatti RA; Boehnke M; Concannon P
Am J Hum Genet; 1998 Jul; 63(1):125-34. PubMed ID: 9634525
[TBL] [Abstract][Full Text] [Related]
17. Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping.
Kibar Z; Dubé MP; Powell J; McCuaïg C; Hayflick SJ; Zonana J; Hovnanian A; Radhakrishna U; Antonarakis SE; Benohanian A; Sheeran AD; Stephan ML; Gosselin R; Kelsell DP; Christianson AL; Fraser FC; Der Kaloustian VM; Rouleau GA
Eur J Hum Genet; 2000 May; 8(5):372-80. PubMed ID: 10854098
[TBL] [Abstract][Full Text] [Related]
18. A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.
Weiler T; Greenberg CR; Zelinski T; Nylen E; Coghlan G; Crumley MJ; Fujiwara TM; Morgan K; Wrogemann K
Am J Hum Genet; 1998 Jul; 63(1):140-7. PubMed ID: 9634523
[TBL] [Abstract][Full Text] [Related]
19. Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews.
Durst R; Colombo R; Shpitzen S; Avi LB; Friedlander Y; Wexler R; Raal FJ; Marais DA; Defesche JC; Mandelshtam MY; Kotze MJ; Leitersdorf E; Meiner V
Am J Hum Genet; 2001 May; 68(5):1172-88. PubMed ID: 11309683
[TBL] [Abstract][Full Text] [Related]
20. Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12.
Xiong L; Labuda M; Li DS; Hudson TJ; Desbiens R; Patry G; Verret S; Langevin P; Mercho S; Seni MH; Scheffer I; Dubeau F; Berkovic SF; Andermann F; Andermann E; Pandolfo M
Am J Hum Genet; 1999 Dec; 65(6):1698-710. PubMed ID: 10577924
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
