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DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.
Kerkhof, Jennifer; Squeo, Gabriella Maria; McConkey, Haley; Levy, Michael A; Piemontese, Maria Rosaria; Castori, Marco; Accadia, Maria; Biamino, Elisa; Della Monica, Matteo; Di Giacomo, Marilena Carmela; Gervasini, Cristina; Maitz, Silvia; Melis, Daniela; Milani, Donatella; Piccione, Maria; Prontera, Paolo; Selicorni, Angelo; Sadikovic, Bekim; Merla, Giuseppe.
Afiliação
  • Kerkhof J; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada.
  • Squeo GM; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy.
  • McConkey H; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada.
  • Levy MA; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada.
  • Piemontese MR; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy.
  • Castori M; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy.
  • Accadia M; Medical Genetics Service, Hospital "Cardinale G. Panico", Tricase, Lecce, Italy.
  • Biamino E; Department of Pediatrics, University of Turin, Italy.
  • Della Monica M; Medical Genetics Unit, Cardarelli Hospital, Largo A Cardarelli, Napoli, Italy.
  • Di Giacomo MC; UOC Anatomia Patologica, AOR "San Carlo", Hospital Potenza, Italy.
  • Gervasini C; Division of Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.
  • Maitz S; Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, Hospital San Gerardo, Monza, Italy.
  • Melis D; Medical, Surgical, and Dental Department, Università degli Studi di Salerno, Salerno, Italy.
  • Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
  • Piccione M; Medical Genetics Unit Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy.
  • Prontera P; Medical Genetics Unit, University of Perugia Hospital SM della Misericordia, Perugia, Italy.
  • Selicorni A; Pediatric Department, ASST Lariana, Sant'Anna General Hospital, Como, Italy.
  • Sadikovic B; Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada; Department of Pathology and Laboratory Medicine, Western University, London, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca.
  • Merla G; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Via S. Pansini 5, 80131 Naples, Italy. Electronic address: giuseppe.m
Genet Med ; 24(1): 51-60, 2022 01.
Article em En | MEDLINE | ID: mdl-34906459
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Doenças Vestibulares / Doenças Hematológicas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Canadá
Texto completo
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XML
PubMed Links
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Doenças Vestibulares / Doenças Hematológicas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Canadá