BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

316 related articles for article (PubMed ID: 10441578)

  • 1. A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.
    Bouhouche A; Benomar A; Birouk N; Mularoni A; Meggouh F; Tassin J; Grid D; Vandenberghe A; Yahyaoui M; Chkili T; Brice A; LeGuern E
    Am J Hum Genet; 1999 Sep; 65(3):722-7. PubMed ID: 10441578
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.
    Leal A; Morera B; Del Valle G ; Heuss D; Kayser C; Berghoff M; Villegas R; Hernández E; Méndez M; Hennies HC; Neundörfer B; Barrantes R; Reis A; Rautenstrauss B
    Am J Hum Genet; 2001 Jan; 68(1):269-74. PubMed ID: 11112660
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.
    Delague V; Bareil C; Tuffery S; Bouvagnet P; Chouery E; Koussa S; Maisonobe T; Loiselet J; Mégarbané A; Claustres M
    Am J Hum Genet; 2000 Jul; 67(1):236-43. PubMed ID: 10848494
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
    Bouhouche A; Birouk N; Azzedine H; Benomar A; Durosier G; Ente D; Muriel MP; Ruberg M; Slassi I; Yahyaoui M; Dubourg O; Ouazzani R; LeGuern E
    Brain; 2007 Apr; 130(Pt 4):1062-75. PubMed ID: 17347251
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
    De Sandre-Giovannoli A; Chaouch M; Kozlov S; Vallat JM; Tazir M; Kassouri N; Szepetowski P; Hammadouche T; Vandenberghe A; Stewart CL; Grid D; Lévy N
    Am J Hum Genet; 2002 Mar; 70(3):726-36. PubMed ID: 11799477
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3.
    Barhoumi C; Amouri R; Ben Hamida C; Ben Hamida M; Machghoul S; Gueddiche M; Hentati F
    Neuromuscul Disord; 2001 Jan; 11(1):27-34. PubMed ID: 11166163
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33.
    LeGuern E; Guilbot A; Kessali M; Ravisé N; Tassin J; Maisonobe T; Grid D; Brice A
    Hum Mol Genet; 1996 Oct; 5(10):1685-8. PubMed ID: 8894708
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.
    Tazir M; Azzedine H; Assami S; Sindou P; Nouioua S; Zemmouri R; Hamadouche T; Chaouch M; Feingold J; Vallat JM; Leguern E; Grid D
    Brain; 2004 Jan; 127(Pt 1):154-63. PubMed ID: 14607793
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.
    Kennerson ML; Zhu D; Gardner RJ; Storey E; Merory J; Robertson SP; Nicholson GA
    Am J Hum Genet; 2001 Oct; 69(4):883-8. PubMed ID: 11533912
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.
    Othmane KB; Johnson E; Menold M; Graham FL; Hamida MB; Hasegawa O; Rogala AD; Ohnishi A; Pericak-Vance M; Hentati F; Vance JM
    Genomics; 1999 Dec; 62(3):344-9. PubMed ID: 10644431
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1.
    Verhoeven K; Villanova M; Rossi A; Malandrini A; De Jonghe P; Timmerman V
    Am J Hum Genet; 2001 Oct; 69(4):889-94. PubMed ID: 11533914
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35.
    Jordanova A; Thomas FP; Guergueltcheva V; Tournev I; Gondim FA; Ishpekova B; De Vriendt E; Jacobs A; Litvinenko I; Ivanova N; Buzhov B; De Jonghe P; Kremensky I; Timmerman V
    Am J Hum Genet; 2003 Dec; 73(6):1423-30. PubMed ID: 14606043
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ
    Acta Neurol Scand Suppl; 2012; (193):iv-22. PubMed ID: 23106488
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.
    Birouk N; Azzedine H; Dubourg O; Muriel MP; Benomar A; Hamadouche T; Maisonobe T; Ouazzani R; Brice A; Yahyaoui M; Chkili T; Le Guern E
    Arch Neurol; 2003 Apr; 60(4):598-604. PubMed ID: 12707075
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24.
    Tang BS; Luo W; Xia K; Xiao JF; Jiang H; Shen L; Tang JG; Zhao GH; Cai F; Pan Q; Dai HP; Yang QD; Xia JH; Evgrafov OV
    Hum Genet; 2004 May; 114(6):527-33. PubMed ID: 15021985
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Charcot-Marie-Tooth disease and related inherited neuropathies.
    Murakami T; Garcia CA; Reiter LT; Lupski JR
    Medicine (Baltimore); 1996 Sep; 75(5):233-50. PubMed ID: 8862346
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21.
    Ismailov SM; Fedotov VP; Dadali EL; Polyakov AV; Van Broeckhoven C; Ivanov VI; De Jonghe P; Timmerman V; Evgrafov OV
    Eur J Hum Genet; 2001 Aug; 9(8):646-50. PubMed ID: 11528513
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.
    Gabreëls-Festen A; van Beersum S; Eshuis L; LeGuern E; Gabreëls F; van Engelen B; Mariman E
    J Neurol Neurosurg Psychiatry; 1999 May; 66(5):569-74. PubMed ID: 10209165
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.
    Kwon JM; Elliott JL; Yee WC; Ivanovich J; Scavarda NJ; Moolsintong PJ; Goodfellow PJ
    Am J Hum Genet; 1995 Oct; 57(4):853-8. PubMed ID: 7573046
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.
    Mersiyanova IV; Perepelov AV; Polyakov AV; Sitnikov VF; Dadali EL; Oparin RB; Petrin AN; Evgrafov OV
    Am J Hum Genet; 2000 Jul; 67(1):37-46. PubMed ID: 10841809
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.