BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

156 related articles for article (PubMed ID: 10909853)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 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. 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]  

  • 9. Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.
    Bolino A; Levy ER; Muglia M; Conforti FL; LeGuern E; Salih MA; Georgiou DM; Christodoulou RK; Hausmanowa-Petrusewicz I; Mandich P; Gambardella A; Quattrone A; Devoto M; Monaco AP
    Genomics; 2000 Jan; 63(2):271-8. PubMed ID: 10673338
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.
    Smaoui N; Beltaief O; BenHamed S; M'Rad R; Maazoul F; Ouertani A; Chaabouni H; Hejtmancik JF
    Invest Ophthalmol Vis Sci; 2004 Aug; 45(8):2716-21. PubMed ID: 15277496
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3.
    Uyguner O; Kayserili H; Li Y; Karaman B; Nürnberg G; Hennies H; Becker C; Nürnberg P; Başaran S; Apak MY; Wollnik B
    Clin Genet; 2007 Mar; 71(3):212-9. PubMed ID: 17309643
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population.
    Howard HC; Dubé MP; Prévost C; Bouchard JP; Mathieu J; Rouleau GA
    Eur J Hum Genet; 2002 Jul; 10(7):406-12. PubMed ID: 12107814
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Construction of a physical and transcript map for a 1-Mb genomic region containing the urofacial (Ochoa) syndrome gene on 10q23-q24 and localization of the disease gene within two overlapping BAC clones (<360 kb).
    Wang CY; Shi JD; Huang YQ; Cruz PE; Ochoa B; Hawkins-Lee B; Davoodi-Semiromi A; She JX
    Genomics; 1999 Aug; 60(1):12-9. PubMed ID: 10458906
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region.
    Fuchshuber A; Kroiss S; Karle S; Berthold S; Huck K; Burton C; Rahman N; Koptides M; Deltas C; Otto E; Rüschendorf F; Feest T; Hildebrandt F
    Genomics; 2001 Mar; 72(3):278-84. PubMed ID: 11401443
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1.
    Guilbot A; Ravisé N; Bouhouche A; Coullin P; Birouk N; Maisonobe T; Kuntzer T; Vial C; Grid D; Brice A; LeGuern E
    Eur J Hum Genet; 1999 Dec; 7(8):849-59. PubMed ID: 10602360
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan.
    Rafiq MA; Ansar M; Marshall CR; Noor A; Shaheen N; Mowjoodi A; Khan MA; Ali G; Amin-ud-Din M; Feuk L; Vincent JB; Scherer SW
    Clin Genet; 2010 Nov; 78(5):478-83. PubMed ID: 20345473
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3.
    Banerjee P; Lewis CA; Kleyn PW; Shugart YY; Ross BM; Penchaszadeh GK; Ott J; Jacobson SG; Gilliam TC; Knowles JA
    Genomics; 1998 Mar; 48(2):171-7. PubMed ID: 9521870
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.