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Journal Abstract Search

568 related items for PubMed ID: 7643352

  • 1. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
    Tranebjaerg L, Schwartz C, Eriksen H, Andreasson S, Ponjavic V, Dahl A, Stevenson RE, May M, Arena F, Barker D.
    J Med Genet; 1995 Apr; 32(4):257-63. PubMed ID: 7643352
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  • 4. Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome.
    Orstavik KH, Orstavik RE, Eiklid K, Tranebjaerg L.
    Am J Med Genet; 1996 Jul 12; 64(1):31-4. PubMed ID: 8826445
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  • 5. Characterisation and genetic mapping of a new X linked deafness syndrome.
    Martin DM, Probst FJ, Camper SA, Petty EM.
    J Med Genet; 2000 Nov 12; 37(11):836-41. PubMed ID: 11073537
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  • 6. Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.
    Cambi F, Tang XM, Cordray P, Fain PR, Keppen LD, Barker DF.
    Neurology; 1996 Apr 12; 46(4):1112-7. PubMed ID: 8780101
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  • 7. A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome.
    Swerdlow RH, Wooten GF.
    Ann Neurol; 2001 Oct 12; 50(4):537-40. PubMed ID: 11601506
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  • 8. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 12; 56(3):105-52. PubMed ID: 19728970
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  • 10. A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.
    Aguirre LA, Pérez-Bas M, Villamar M, López-Ariztegui MA, Moreno-Pelayo MA, Moreno F, del Castillo I.
    Neuromuscul Disord; 2008 Dec 12; 18(12):979-81. PubMed ID: 18952432
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  • 11. Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood.
    Kremer H, Hamel BC, van den Helm B, Arts WF, de Wijs IJ, Sistermans EA, Ropers HH, Mariman EC.
    Hum Genet; 1996 Nov 12; 98(5):513-7. PubMed ID: 8882866
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  • 12. Temporal bone histopathologic and genetic studies in Mohr-Tranebjaerg syndrome (DFN-1).
    Merchant SN, McKenna MJ, Nadol JB, Kristiansen AG, Tropitzsch A, Lindal S, Tranebjaeizrg L.
    Otol Neurotol; 2001 Jul 12; 22(4):506-11. PubMed ID: 11449109
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  • 13. A family with X-linked deafness showing linkage to the proximal Xq region of the X chromosome.
    Robinson D, Lamont M, Curtis G, Shields DC, Phelps P.
    Hum Genet; 1992 Nov 12; 90(3):316-8. PubMed ID: 1362559
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  • 14. A family with X-linked dystonia-deafness syndrome with a novel mutation of the DDP gene.
    Ujike H, Tanabe Y, Takehisa Y, Hayabara T, Kuroda S.
    Arch Neurol; 2001 Jun 12; 58(6):1004-7. PubMed ID: 11405816
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  • 15. Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21.
    Manolis EN, Eavey RD, Sangwatanaroj S, Halpin C, Rosenbaum S, Watkins H, Jarcho J, Seidman CE, Seidman JG.
    Am J Otol; 1999 Sep 12; 20(5):621-6. PubMed ID: 10503584
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  • 16. A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22.
    del Castillo I, Villamar M, Sarduy M, Romero L, Herraiz C, Hernández FJ, Rodríguez M, Borrás I, Montero A, Bellón J, Tapia MC, Moreno F.
    Hum Mol Genet; 1996 Sep 12; 5(9):1383-7. PubMed ID: 8872482
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  • 17. A new form of X-linked, high-frequency, sensorineural deafness.
    Wellesley D, Goldblatt J.
    Clin Genet; 1992 Feb 12; 41(2):79-81. PubMed ID: 1544216
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  • 18. The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
    Ha AD, Parratt KL, Rendtorff ND, Lodahl M, Ng K, Rowe DB, Sue CM, Hayes MW, Tranebjaerg L, Fung VS.
    Mov Disord; 2012 Jul 12; 27(8):1034-40. PubMed ID: 22736418
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  • 19. Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy.
    Wang H, Wang L, Yang J, Yin L, Lan L, Li J, Zhang Q, Wang D, Guan J, Wang Q.
    BMC Med Genet; 2019 Jan 11; 20(1):11. PubMed ID: 30634948
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  • 20. Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24.
    des Portes V, Soufir N, Carrié A, Billuart P, Bienvenu T, Vinet MC, Beldjord C, Ponsot G, Kahn A, Boué J, Chelly J.
    Am J Med Genet; 1997 Oct 31; 72(3):324-8. PubMed ID: 9332663
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