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Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.
Netravathi, Manjunath; Kumari, Renu; Kapoor, Saketh; Dakle, Pushkar; Dwivedi, Manish Kumar; Roy, Sumitabho Deb; Pandey, Paritosh; Saini, Jitender; Ramakrishna, Anil; Navalli, Devaraddi; Satishchandra, Parthasarathy; Pal, Pramod Kumar; Kumar, Arun; Faruq, Mohammed.
Afiliação
  • Netravathi M; Department of Neurology, National Institute of mental health & Neurosciences (NIMHANS), Bangalore, 560029, India. sundernetra@yahoo.co.in.
  • Kumari R; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Mall Road, New Delhi, India. renu.kumari@igib.in.
  • Kapoor S; Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, 560012, India. kapoor.saketh@gmail.com.
  • Dakle P; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Mall Road, New Delhi, India. pushkar.dakle@igib.in.
  • Dwivedi MK; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Mall Road, New Delhi, India. mk.dwivedi@igib.in.
  • Roy SD; Proteomics and Structural Biology Unit, CSIR-Institute of Genomics and Integrative Biology, Mall Road, New Delhi, India. sumitabhodebroy@gmail.com.
  • Pandey P; Department of Neurosurgery, National Institute of mental health & Neurosciences (NIMHANS), Bangalore, 560029, India. paritosh2000@gmail.com.
  • Saini J; Department of Neuroimaging & Interventional Neuroradiology, National Institute of mental health & Neurosciences (NIMHANS), Bangalore, 560034, India. jsaini76@gmail.com.
  • Ramakrishna A; Department of Neurology, National Institute of mental health & Neurosciences (NIMHANS), Bangalore, 560029, India. anilramakrishna78@yahoo.co.in.
  • Navalli D; Department of Neurology, National Institute of mental health & Neurosciences (NIMHANS), Bangalore, 560029, India. devaraddi.navalli@rediffmail.com.
  • Satishchandra P; Department of Neurology, National Institute of mental health & Neurosciences (NIMHANS), Bangalore, 560029, India. drpsatishchandra@yahoo.com.
  • Pal PK; Department of Neurology, National Institute of mental health & Neurosciences (NIMHANS), Bangalore, 560029, India. pal.pramod@rediffmail.com.
  • Kumar A; Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, 560012, India. karun@mrdg.iisc.ernet.in.
  • Faruq M; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Mall Road, New Delhi, India. faruq.mohd@igib.res.in.
BMC Med Genet ; 16: 5, 2015 Feb 10.
Article em En | MEDLINE | ID: mdl-25928698
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Ataxia / Convulsões / Neoplasias Encefálicas / Calcinose / Análise de Sequência de DNA / Mutação de Sentido Incorreto / Cistos do Sistema Nervoso Central / Proteínas de Ligação a Telômeros / Dextrocardia Tipo de estudo: Prognostic_studies Limite: Animals / Child / Humans / Male País/Região como assunto: Asia Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Índia
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Ataxia / Convulsões / Neoplasias Encefálicas / Calcinose / Análise de Sequência de DNA / Mutação de Sentido Incorreto / Cistos do Sistema Nervoso Central / Proteínas de Ligação a Telômeros / Dextrocardia Tipo de estudo: Prognostic_studies Limite: Animals / Child / Humans / Male País/Região como assunto: Asia Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Índia