These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 9099841)

  • 1. Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).
    Janssen EA; Kemp S; Hensels GW; Sie OG; de Die-Smulders CE; Hoogendijk JE; de Visser M; Bolhuis PA
    Hum Genet; 1997 Apr; 99(4):501-5. PubMed ID: 9099841
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
    Bort S; Nelis E; Timmerman V; Sevilla T; Cruz-Martínez A; Martínez F; Millán JM; Arpa J; Vílchez JJ; Prieto F; Van Broeckhoven C; Palau F
    Hum Genet; 1997 Jun; 99(6):746-54. PubMed ID: 9187667
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.
    Ionasescu V; Searby C; Ionasescu R
    Hum Mol Genet; 1994 Feb; 3(2):355-8. PubMed ID: 8004109
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1.
    Pericak-Vance MA; Barker DF; Bergoffen JA; Chance P; Cochrane S; Dahl N; Exler MC; Fain PR; Fairweather ND; Fischbeck K
    Hum Hered; 1995; 45(3):121-8. PubMed ID: 7615296
    [TBL] [Abstract][Full Text] [Related]  

  • 7. X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene.
    Ressot C; Latour P; Blanquet-Grossard F; Sturtz F; Duthel S; Battin J; Corbillon E; Ollagnon E; Serville F; Vandenberghe A; Dautigny A; Pham-Dinh D
    Hum Genet; 1996 Aug; 98(2):172-5. PubMed ID: 8698335
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutation testing in Charcot-Marie-Tooth neuropathy.
    Nicholson GA
    Ann N Y Acad Sci; 1999 Sep; 883():383-8. PubMed ID: 10586262
    [TBL] [Abstract][Full Text] [Related]  

  • 9. X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).
    Senderek J; Bergmann C; Quasthoff S; Ramaekers VT; Schröder JM
    Acta Neuropathol; 1998 May; 95(5):443-9. PubMed ID: 9600589
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics.
    Ionasescu VV
    Muscle Nerve; 1995 Mar; 18(3):267-75. PubMed ID: 7870103
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
    Nelis E; Van Broeckhoven C; De Jonghe P; Löfgren A; Vandenberghe A; Latour P; Le Guern E; Brice A; Mostacciuolo ML; Schiavon F; Palau F; Bort S; Upadhyaya M; Rocchi M; Archidiacono N; Mandich P; Bellone E; Silander K; Savontaus ML; Navon R; Goldberg-Stern H; Estivill X; Volpini V; Friedl W; Gal A
    Eur J Hum Genet; 1996; 4(1):25-33. PubMed ID: 8800924
    [TBL] [Abstract][Full Text] [Related]  

  • 12. X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).
    Senderek J; Hermanns B; Bergmann C; Boroojerdi B; Bajbouj M; Hungs M; Ramaekers VT; Quasthoff S; Karch D; Schröder JM
    J Neurol Sci; 1999 Aug; 167(2):90-101. PubMed ID: 10521546
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy.
    Ionasescu V; Ionasescu R; Searby C
    Am J Med Genet; 1996 Jun; 63(3):486-91. PubMed ID: 8737658
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.
    Nicholson GA; Yeung L; Corbett A
    Neurology; 1998 Nov; 51(5):1412-6. PubMed ID: 9818870
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.
    Oterino A; Montón FI; Cabrera VM; Pinto F; Gonzalez A; Lavilla NR
    J Med Genet; 1996 May; 33(5):413-5. PubMed ID: 8733054
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).
    Fairweather N; Bell C; Cochrane S; Chelly J; Wang S; Mostacciuolo ML; Monaco AP; Haites NE
    Hum Mol Genet; 1994 Jan; 3(1):29-34. PubMed ID: 8162049
    [TBL] [Abstract][Full Text] [Related]  

  • 17. X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.
    Cochrane S; Bergoffen J; Fairweather ND; Müller E; Mostacciuolo ML; Monaco AP; Fischbeck KH; Haites NE
    J Med Genet; 1994 Mar; 31(3):193-6. PubMed ID: 7912286
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation.
    Leonardis L; Zidar J; Ekici A; Peterlin B; Rautenstrauss B
    Int J Mol Med; 1998 Feb; 1(2):495-501. PubMed ID: 9852256
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy.
    Ionasescu VV; Searby C; Ionasescu R; Neuhaus IM; Werner R
    Neurology; 1996 Aug; 47(2):541-4. PubMed ID: 8757034
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.
    Lee MJ; Nelson I; Houlden H; Sweeney MG; Hilton-Jones D; Blake J; Wood NW; Reilly MM
    J Neurol Neurosurg Psychiatry; 2002 Sep; 73(3):304-6. PubMed ID: 12185164
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.