108 related articles for article (PubMed ID: 9450783)
1. Localization of the giant axonal neuropathy gene to chromosome 16q24.
Flanigan KM; Crawford TO; Griffin JW; Goebel HH; Kohlschütter A; Ranells J; Camfield PR; Ptácek LJ
Ann Neurol; 1998 Jan; 43(1):143-8. PubMed ID: 9450783
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Genetic heterogeneity in giant axonal neuropathy: an Algerian family not linked to chromosome 16q24.1.
Tazir M; Vallat JM; Bomont P; Zemmouri R; Sindou P; Assami S; Nouioua S; Hammadouche T; Grid D; Koenig M
Neuromuscul Disord; 2002 Nov; 12(9):849-52. PubMed ID: 12398836
[TBL] [Abstract][Full Text] [Related]
4. Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1.
Ben Hamida C; Cavalier L; Belal S; Sanhaji H; Nadal N; Barhoumi C; M'Rissa N; Marzouki N; Mandel JL; Ben Hamida M; Koenig M; Hentati F
Neurogenetics; 1997 Sep; 1(2):129-33. PubMed ID: 10732815
[TBL] [Abstract][Full Text] [Related]
5. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.
Bomont P; Cavalier L; Blondeau F; Ben Hamida C; Belal S; Tazir M; Demir E; Topaloglu H; Korinthenberg R; Tüysüz B; Landrieu P; Hentati F; Koenig M
Nat Genet; 2000 Nov; 26(3):370-4. PubMed ID: 11062483
[TBL] [Abstract][Full Text] [Related]
6. Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping.
Hand CK; Harmon DL; Kennedy SM; FitzSimon JS; Collum LM; Parfrey NA
Genomics; 1999 Oct; 61(1):1-4. PubMed ID: 10512674
[TBL] [Abstract][Full Text] [Related]
7. Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3.
Finckh U; Xu S; Kumaramanickavel G; Schürmann M; Mukkadan JK; Fernandez ST; John S; Weber JL; Denton MJ; Gal A
Genomics; 1998 Mar; 48(3):341-5. PubMed ID: 9545639
[TBL] [Abstract][Full Text] [Related]
8. Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder.
Nozaki J; Dakeishi M; Ohura T; Inoue K; Manabe M; Wada Y; Koizumi A
Biochem Biophys Res Commun; 2001 Jun; 284(2):255-60. PubMed ID: 11394870
[TBL] [Abstract][Full Text] [Related]
9. Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.
Lagier-Tourenne C; Tranebaerg L; Chaigne D; Gribaa M; Dollfus H; Silvestri G; Bétard C; Warter JM; Koenig M
Eur J Hum Genet; 2003 Oct; 11(10):770-8. PubMed ID: 14512967
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23.
Bomont P; Watanabe M; Gershoni-Barush R; Shizuka M; Tanaka M; Sugano J; Guiraud-Chaumeil C; Koenig M
Eur J Hum Genet; 2000 Dec; 8(12):986-90. PubMed ID: 11175288
[TBL] [Abstract][Full Text] [Related]
12. Identification of seven novel mutations in the GAN gene.
Bomont P; Ioos C; Yalcinkaya C; Korinthenberg R; Vallat JM; Assami S; Munnich A; Chabrol B; Kurlemann G; Tazir M; Koenig M
Hum Mutat; 2003 Apr; 21(4):446. PubMed ID: 12655563
[TBL] [Abstract][Full Text] [Related]
13. Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11.
Wissinger B; Jägle H; Kohl S; Broghammer M; Baumann B; Hanna DB; Hedels C; Apfelstedt-Sylla E; Randazzo G; Jacobson SG; Zrenner E; Sharpe LT
Genomics; 1998 Aug; 51(3):325-31. PubMed ID: 9721202
[TBL] [Abstract][Full Text] [Related]
14. A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family.
Riazuddin SA; Yasmeen A; Zhang Q; Yao W; Sabar MF; Ahmed Z; Riazuddin S; Hejtmancik JF
Invest Ophthalmol Vis Sci; 2005 Feb; 46(2):623-6. PubMed ID: 15671291
[TBL] [Abstract][Full Text] [Related]
15. Refinement of the chromosome 16 locus for benign familial infantile convulsions.
Callenbach PM; van den Boogerd EH; de Coo RF; ten Houten R; Oosterwijk JC; Hageman G; Frants RR; Brouwer OF; van den Maagdenberg AM
Clin Genet; 2005 Jun; 67(6):517-25. PubMed ID: 15857419
[TBL] [Abstract][Full Text] [Related]
16. Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family.
Kamatani N; Moritani M; Yamanaka H; Takeuchi F; Hosoya T; Itakura M
Arthritis Rheum; 2000 Apr; 43(4):925-9. PubMed ID: 10765940
[TBL] [Abstract][Full Text] [Related]
17. A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family.
Abu-Rashid M; Mahajnah M; Jaber L; Kornreich L; Bar-On E; Basel-Vanagaite L; Soffer D; Koenig M; Straussberg R
Eur J Paediatr Neurol; 2013 May; 17(3):259-64. PubMed ID: 23332420
[TBL] [Abstract][Full Text] [Related]
18. Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23.
Stuhrmann M; Hennies HC; Bukhari IA; Brakensiek K; Nürnberg G; Becker C; Huebener J; Miranda MC; Frye-Boukhriss H; Knothe S; Schmidtke J; El-Harith EH
Clin Genet; 2008 Jun; 73(6):566-72. PubMed ID: 18462451
[TBL] [Abstract][Full Text] [Related]
19. DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.
Mustapha M; Chouery E; Chardenoux S; Naboulsi M; Paronnaud J; Lemainque A; Mégarbané A; Loiselet J; Weil D; Lathrop M; Petit C
Eur J Hum Genet; 2002 Mar; 10(3):210-2. PubMed ID: 11973626
[TBL] [Abstract][Full Text] [Related]
20. Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.
Bidinost C; Matsumoto M; Chung D; Salem N; Zhang K; Stockton DW; Khoury A; Megarbane A; Bejjani BA; Traboulsi EI
Invest Ophthalmol Vis Sci; 2006 Apr; 47(4):1274-80. PubMed ID: 16565358
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
