480 related articles for article (PubMed ID: 10951524)
1. Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome.
Hadj-Rabia S; Salomon R; Pelet A; Penet C; Rotschild A; de Laët MH; Chaouachi B; Hannachi R; Bakiri F; Brauner R; Chaussain JL; Munnich A; Lyonnet S
Eur J Hum Genet; 2000 Aug; 8(8):613-20. PubMed ID: 10951524
[TBL] [Abstract][Full Text] [Related]
2. Mutant WD-repeat protein in triple-A syndrome.
Tullio-Pelet A; Salomon R; Hadj-Rabia S; Mugnier C; de Laet MH; Chaouachi B; Bakiri F; Brottier P; Cattolico L; Penet C; Bégeot M; Naville D; Nicolino M; Chaussain JL; Weissenbach J; Munnich A; Lyonnet S
Nat Genet; 2000 Nov; 26(3):332-5. PubMed ID: 11062474
[TBL] [Abstract][Full Text] [Related]
3. Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
Viollet L; Zarhrate M; Maystadt I; Estournet-Mathiaut B; Barois A; Desguerre I; Mayer M; Chabrol B; LeHeup B; Cusin V; Billette De Villemeur T; Bonneau D; Saugier-Veber P; Touzery-De Villepin A; Delaubier A; Kaplan J; Jeanpierre M; Feingold J; Munnich A
Eur J Hum Genet; 2004 Jun; 12(6):483-8. PubMed ID: 15054395
[TBL] [Abstract][Full Text] [Related]
4. Segregation of Allgrove (triple-A) syndrome in Puerto Rican kindreds with chromosome 12 (12q13) polymorphic markers.
Stratakis CA; Lin JP; Pras E; Rennert OM; Bourdony CJ; Chan WY
Proc Assoc Am Physicians; 1997 Sep; 109(5):478-82. PubMed ID: 9285947
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster.
Weber A; Wienker TF; Jung M; Easton D; Dean HJ; Heinrichs C; Reis A; Clark AJ
Hum Mol Genet; 1996 Dec; 5(12):2061-6. PubMed ID: 8968764
[TBL] [Abstract][Full Text] [Related]
7. [From gene to disease; adrenocortical insufficiency, achalasia and disrupted tear secretion: Allgrove syndrome].
van Daele PL; de Herder WW; Huebner A
Ned Tijdschr Geneeskd; 2002 Nov; 146(48):2295-7. PubMed ID: 12497758
[TBL] [Abstract][Full Text] [Related]
8. Giant axonal neuropathy locus refinement to a < 590 kb critical interval.
Cavalier L; BenHamida C; Amouri R; Belal S; Bomont P; Lagarde N; Gressin L; Callen D; Demir E; Topaloglu H; Landrieu P; Ioos C; Hamida MB; Koenig M; Hentati F
Eur J Hum Genet; 2000 Jul; 8(7):527-34. PubMed ID: 10909853
[TBL] [Abstract][Full Text] [Related]
9. Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy).
Asaka T; Ikeuchi K; Okino S; Takizawa Y; Satake R; Nitta E; Komai K; Endo K; Higuchi S; Oyake T; Yoshimura T; Suenaga A; Uyama E; Saito T; Konagaya M; Sunohara N; Namba R; Takada H; Honke K; Nishina M; Tanaka H; Shinagawa M; Tanaka K; Matsushima A; Tsuji S; Takamori M
J Hum Genet; 2001; 46(11):649-55. PubMed ID: 11721884
[TBL] [Abstract][Full Text] [Related]
10. Mapping of the locus for autosomal dominant amelogenesis imperfecta (AIH2) to a 4-Mb YAC contig on chromosome 4q11-q21.
Kärrman C; Bäckman B; Dixon M; Holmgren G; Forsman K
Genomics; 1997 Jan; 39(2):164-70. PubMed ID: 9027503
[TBL] [Abstract][Full Text] [Related]
11. Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene.
Popovic M; Goobie S; Morrison J; Ellis L; Ehtesham N; Richards N; Boocock G; Durie PR; Rommens JM
Eur J Hum Genet; 2002 Apr; 10(4):250-8. PubMed ID: 12032733
[TBL] [Abstract][Full Text] [Related]
12. Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406.
Martinsson T; Bjursell C; Stibler H; Kristiansson B; Skovby F; Jaeken J; Blennow G; Strömme P; Hanefeld F; Wahlström J
Hum Mol Genet; 1994 Nov; 3(11):2037-42. PubMed ID: 7874123
[TBL] [Abstract][Full Text] [Related]
13. A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan.
Takashima M; Ishikawa K; Nagaoka U; Shoji S; Mizusawa H
J Hum Genet; 2001; 46(4):167-71. PubMed ID: 11322654
[TBL] [Abstract][Full Text] [Related]
14. Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41.
Watanabe Y; Murray JC; Bjork BC; Bird CP; Chiang PW; Gregory SG; Kurnit DM; Schutte BC
Hum Mutat; 2001 Nov; 18(5):422-34. PubMed ID: 11668635
[TBL] [Abstract][Full Text] [Related]
15. Refinement of the gene locus for autosomal recessive juvenile parkinsonism (AR-JP) on chromosome 6q25.2-27 and identification of markers exhibiting linkage disequilibrium.
Saito M; Matsumine H; Tanaka H; Ishikawa A; Shimoda-Matsubayashi S; Schäffer AA; Mizuno Y; Tsuji S
J Hum Genet; 1998; 43(1):22-31. PubMed ID: 9609994
[TBL] [Abstract][Full Text] [Related]
16. A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene.
Irobi J; Tissir F; De Jonghe P; De Vriendt E; Van Broeckhoven C; Timmerman V; Beuten J
Genomics; 2000 Apr; 65(1):34-43. PubMed ID: 10777663
[TBL] [Abstract][Full Text] [Related]
17. CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene.
Danciger M; Hendrickson J; Lyon J; Toomes C; McHale JC; Fishman GA; Inglehearn CF; Jacobson SG; Farber DB
Invest Ophthalmol Vis Sci; 2001 Oct; 42(11):2458-65. PubMed ID: 11581183
[TBL] [Abstract][Full Text] [Related]
18. A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium.
Machado RD; Pauciulo MW; Fretwell N; Veal C; Thomson JR; Vilariño Güell C; Aldred M; Brannon CA; Trembath RC; Nichols WC
Genomics; 2000 Sep; 68(2):220-8. PubMed ID: 10964520
[TBL] [Abstract][Full Text] [Related]
19. Refined mapping of the autosomal recessive non-syndromic deafness locus DFNB13 using eight novel microsatellite markers.
Masmoudi S; Charfedine I; Rebeh IB; Rebai A; Tlili A; Ghorbel AM; Belguith H; Petit C; Drira M; Ayadi H
Clin Genet; 2004 Oct; 66(4):358-64. PubMed ID: 15355440
[TBL] [Abstract][Full Text] [Related]
20. Physical mapping of the rippling muscle disease locus.
Stephan DA; Hoffman EP
Genomics; 1999 Feb; 55(3):268-74. PubMed ID: 10049580
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
