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European Journal of Human Genetics
Volumn 22, Issue 3, 2014, Pages 435-
Clinical utility gene card for: Vici syndrome
Author keywords

[No Author keywords available]
Indexed keywords

EPG5 PROTEIN, HUMAN; KIAA1632 PROTEIN, HUMAN; PROTEIN; TUMOR ANTIGEN;
EID: 84894335641     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.142     Document Type: Article
Times cited : (15)
References (12)
  • 1
    • 84871952426 scopus 로고    scopus 로고
    • Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
    • Cullup T, Kho AL, Dionisi-Vici C et al: Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet 2013; 45: 83-87.
    • (2013) Nat Genet , vol.45 , pp. 83-87
    • Cullup, T.1    Kho, A.L.2    Dionisi-Vici, C.3
  • 2
    • 67651046936 scopus 로고    scopus 로고
    • Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting
    • Ellard S, Shields B, Tysoe C et al: Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting. Genet Test Mol Biomarkers 2009; 13: 381-386.
    • (2009) Genet Test Mol Biomarkers , vol.13 , pp. 381-386
    • Ellard, S.1    Shields, B.2    Tysoe, C.3
  • 3
    • 77954123367 scopus 로고    scopus 로고
    • Vici syndrome associated with unilateral lung hypoplasia and myopathy
    • Al-Owain M, Al-Hashem A, Al-Muhaizea M et al: Vici syndrome associated with unilateral lung hypoplasia and myopathy. AmJ Med Genet Part A 2010; 152A: 1849-1853.
    • (2010) AmJ Med Genet Part A , vol.152 , pp. 1849-1853
    • Al-Owain, M.1    Al-Hashem, A.2    Al-Muhaizea, M.3
  • 4
    • 0037089941 scopus 로고    scopus 로고
    • Sister and brother with Vici syndrome: Agenesis of the corpus callosum, albinism, and recurrent infections
    • Chiyonobu T, Yoshihara T, Fukushima Y et al: Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections. AmJ Med Genet Part A 2002; 109: 61-66.
    • (2002) AmJ Med Genet Part A , vol.109 , pp. 61-66
    • Chiyonobu, T.1    Yoshihara, T.2    Fukushima, Y.3
  • 5
    • 0033609847 scopus 로고    scopus 로고
    • Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance
    • del Campo M, Hall BD, Aeby A et al: Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance. AmJ Med Genet Part A 1999; 85: 479-485.
    • (1999) AmJ Med Genet Part A , vol.85 , pp. 479-485
    • Del Campo, M.1    Hall, B.D.2    Aeby, A.3
  • 6
    • 77649202003 scopus 로고    scopus 로고
    • Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy
    • McClelland V, Cullup T, Bodi I et al: Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy. AmJ Med Genet Part A 2010; 152A: 741-747.
    • (2010) AmJ Med Genet Part A , vol.152 , pp. 741-747
    • McClelland, V.1    Cullup, T.2    Bodi, I.3
  • 7
    • 33846004224 scopus 로고    scopus 로고
    • Sibling cases of Vici syndrome: Sleep abnormalities and complications of renal tubular acidosis
    • Miyata R, Hayashi M, Sato H et al: Sibling cases of Vici syndrome: sleep abnormalities and complications of renal tubular acidosis. AmJ Med Genet Part A 2007; 143: 189-194.
    • (2007) AmJ Med Genet Part A , vol.143 , pp. 189-194
    • Miyata, R.1    Hayashi, M.2    Sato, H.3
  • 8
    • 84867311766 scopus 로고    scopus 로고
    • Vici syndrome associated with sensorineural hearing loss and laryngomalacia
    • Ozkale M, Erol I, Gumus A, Ozkale Y, Alehan F: Vici syndrome associated with sensorineural hearing loss and laryngomalacia. Pediatr Neurol 2012; 47: 375-378.
    • (2012) Pediatr Neurol , vol.47 , pp. 375-378
    • Ozkale, M.1    Erol, I.2    Gumus, A.3    Ozkale, Y.4    Alehan, F.5
  • 9
    • 84871961450 scopus 로고    scopus 로고
    • Vici Syndrome: A rare autosomal recessive syndrome with brain anomalies, cardiomyopathy, and severe intellectual disability
    • Article ID 421582
    • Rogers CR, Aufmuth B, Monesson S: Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability. Case Reports in Genetics 2011; 2011: Article ID 421582.
    • (2011) Case Reports in Genetics , vol.2011
    • Rogers, C.R.1    Aufmuth, B.2    Monesson, S.3
  • 10
    • 0023845505 scopus 로고
    • Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers
    • Vici CD, Sabetta G, Gambarara M et al: Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers. AmJ Med Genet Part A 1988; 29: 1-8.
    • (1988) AmJ Med Genet Part A , vol.29 , pp. 1-8
    • Vici, C.D.1    Sabetta, G.2    Gambarara, M.3
  • 11
    • 84856173454 scopus 로고    scopus 로고
    • Vici syndrome-a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy
    • Said E, Soler D, Sewry C: Vici syndrome-a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy. AmJ Med Genet Part A 2012; 158A: 440-444.
    • (2012) AmJ Med Genet Part A , vol.158 , pp. 440-444
    • Said, E.1    Soler, D.2    Sewry, C.3
  • 12
    • 84856157292 scopus 로고    scopus 로고
    • Immunodeficiency in Vici syndrome: A heterogeneous phenotype
    • Finocchi A, Angelino G, Cantarutti N et al: Immunodeficiency in Vici syndrome: a heterogeneous phenotype. AmJ Med Genet Part A 2012; 158A: 434-439. e1000423.
    • (2012) AmJ Med Genet Part A , vol.158 , pp. 434-439
    • Finocchi, A.1    Angelino, G.2    Cantarutti, N.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.