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Volumn 17, Issue 1, 2010, Pages 51-53

Identification of an X-linked deletion syndrome through comparative genomic hybridization microarray

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; PENDRIN; PERCHLORATE;

EID: 77952500370     PISSN: 10719091     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.spen.2010.02.008     Document Type: Article
Times cited : (6)

References (10)
  • 1
    • 0023471357 scopus 로고
    • Deletion of the DXS165 locus in patients with classical choroideremia
    • Cremers FP, Brunsmann R, van de Pol TJR, et al: Deletion of the DXS165 locus in patients with classical choroideremia. Clin Genet 32:421-423, 1987
    • (1987) Clin Genet , vol.32 , pp. 421-423
    • Cremers, F.P.1    Brunsmann, R.2    van de Pol, T.J.R.3
  • 2
    • 0028988233 scopus 로고
    • Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
    • De Kok YJM, van der Maarel SM, Bitner-Glindzicz M, et al: Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 267:685-688, 1995
    • (1995) Science , vol.267 , pp. 685-688
    • De Kok, Y.J.M.1    van der Maarel, S.M.2    Bitner-Glindzicz, M.3
  • 3
    • 0030852497 scopus 로고    scopus 로고
    • Gene for non-specific X-linked MR is located in Xq22.3-q24
    • Des Portes V, Soufir N, Carrie A, et al: Gene for non-specific X-linked MR is located in Xq22.3-q24. J Med Genet 72:324-328, 1997
    • (1997) J Med Genet , vol.72 , pp. 324-328
    • Des Portes, V.1    Soufir, N.2    Carrie, A.3
  • 4
    • 0030011779 scopus 로고    scopus 로고
    • Regional localization of two non-specific X-linked mental retardation genes (MRX30 and MRX31)
    • Donnelly AJ, Partington MW, Ryan AK, et al: Regional localization of two non-specific X-linked mental retardation genes (MRX30 and MRX31). Am J Med Genet 64:113-120, 1996
    • (1996) Am J Med Genet , vol.64 , pp. 113-120
    • Donnelly, A.J.1    Partington, M.W.2    Ryan, A.K.3
  • 5
    • 0041823333 scopus 로고    scopus 로고
    • X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3
    • Gedeon AK, Nelson J, Gecz J, et al: X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3. Am J Med Genet 120A:509-517, 2003
    • (2003) Am J Med Genet , vol.120 A , pp. 509-517
    • Gedeon, A.K.1    Nelson, J.2    Gecz, J.3
  • 6
    • 35848964818 scopus 로고    scopus 로고
    • Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness
    • Hildebrand MS, de Silva MG, Tan TY, et al: Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness. Am J Med Genet A 143A:2564-2575, 2007
    • (2007) Am J Med Genet A , vol.143 A , pp. 2564-2575
    • Hildebrand, M.S.1    de Silva, M.G.2    Tan, T.Y.3
  • 7
    • 0024444395 scopus 로고
    • Choroideremia and deafness with stapes fixation: A continuous gene deletion syndrome in Xq21
    • Merry DE, Leske JG, Sognoski DM, et al: Choroideremia and deafness with stapes fixation: A continuous gene deletion syndrome in Xq21. Am J Hum Genet 45:530-540, 1989
    • (1989) Am J Hum Genet , vol.45 , pp. 530-540
    • Merry, D.E.1    Leske, J.G.2    Sognoski, D.M.3
  • 8
    • 34547876065 scopus 로고    scopus 로고
    • Clinical and functional findings in choroideremia due to complete deletion of the CHM gene
    • Mura M, Sereda C, Jablowski MM, et al: Clinical and functional findings in choroideremia due to complete deletion of the CHM gene. Arch Ophthalmol 125:1107-1113, 2007
    • (2007) Arch Ophthalmol , vol.125 , pp. 1107-1113
    • Mura, M.1    Sereda, C.2    Jablowski, M.M.3
  • 9
    • 34848876981 scopus 로고    scopus 로고
    • PAK3 related mental disability: Further characterization of the phenotype
    • Peippo M, Koivisto AM, Särkämö T, et al: PAK3 related mental disability: Further characterization of the phenotype.AmJMedGenet 143A:2406-2416,2007
    • (2007) AmJMedGenet , vol.143 A , pp. 2406-2416
    • Peippo, M.1    Koivisto, A.M.2    Särkämö, T.3
  • 10
    • 84907113094 scopus 로고
    • Congenital deafness and mental retardation in a family with an X chromosomal deletion
    • Rosenberg T, Niebuhn E, Yang HM, et al: Congenital deafness and mental retardation in a family with an X chromosomal deletion. Ophthalmol Paediat Genet 8:139-143, 1987
    • (1987) Ophthalmol Paediat Genet , vol.8 , pp. 139-143
    • Rosenberg, T.1    Niebuhn, E.2    Yang, H.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.