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Volumn 84, Issue 1, 2013, Pages 86-90

OFD1 mutations in males: Phenotypic spectrum and ciliary basal body docking impairment

(25)  Thauvin Robinet, C a,b   Thomas, S c   Sinico, M d   Aral, B a,e   Burglen, L f   Gigot, N a,e   Dollfus, H g   Rossignol, S h   Raynaud, M i   Philippe, C j   Badens, C k   Touraine, R l   Gomes, C c   Franco, B m,n   Lopez, E a   Elkhartoufi, N o   Faivre, L a,b   Munnich, A c,o   Boddaert, N c,p   Maldergem, L Van a,q   more..


Author keywords

[No Author keywords available]

Indexed keywords

OFD1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

EID: 84879837496     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12013     Document Type: Letter
Times cited : (32)

References (7)
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    • A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome
    • Budny B, Chen W, Omran H et al. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum Genet 2006: 120: 171-178.
    • (2006) Hum Genet , vol.120 , pp. 171-178
    • Budny, B.1    Chen, W.2    Omran, H.3
  • 2
    • 70350494065 scopus 로고    scopus 로고
    • OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
    • Coene KL, Roepman R, Doherty D et al. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet 2009: 85: 465-481.
    • (2009) Am J Hum Genet , vol.85 , pp. 465-481
    • Coene, K.L.1    Roepman, R.2    Doherty, D.3
  • 3
    • 84862654933 scopus 로고    scopus 로고
    • Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia
    • Juric-Sekhar G, Adkins J, Doherty D, Hevner RF. Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia. Acta Neuropathol 2012: 123: 695-709.
    • (2012) Acta Neuropathol , vol.123 , pp. 695-709
    • Juric-Sekhar, G.1    Adkins, J.2    Doherty, D.3    Hevner, R.F.4
  • 4
    • 84863723277 scopus 로고    scopus 로고
    • Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations
    • Field M, Scheffer IE, Gill D et al. Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. Eur J Hum Genet 2012: 20: 806-809.
    • (2012) Eur J Hum Genet , vol.20 , pp. 806-809
    • Field, M.1    Scheffer, I.E.2    Gill, D.3
  • 5
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    • Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients
    • Epub 30 March . DOI: 10.1111/j.1399-0004.2012.01885.
    • Tsurusaki Y, Kosho T, Hatasaki K et al. Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients. Clin Genet. Epub 30 March 2012. DOI: 10.1111/j.1399-0004.2012.01885.
    • (2012) Clin Genet
    • Tsurusaki, Y.1    Kosho, T.2    Hatasaki, K.3
  • 6
    • 84865063293 scopus 로고    scopus 로고
    • Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)
    • Webb TR, Parfitt DA, Gardner JC et al. Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). Hum Mol Genet 2012: 21: 3647-3654.
    • (2012) Hum Mol Genet , vol.21 , pp. 3647-3654
    • Webb, T.R.1    Parfitt, D.A.2    Gardner, J.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.