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Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.
Guida, Valentina; Sparascio, Francesca Piceci; Bernardini, Laura; Pancheri, Francesco; Melis, Daniela; Cocciadiferro, Dario; Pagnoni, Mario; Puzzo, Marianna; Goldoni, Marina; Barone, Chiara; Hozhabri, Hossein; Putotto, Carolina; Giuffrida, Maria Grazia; Briuglia, Silvana; Palumbo, Orazio; Bianca, Sebastiano; Stanzial, Franco; Benedicenti, Francesco; Kariminejad, Ariana; Forzano, Francesca; Baghernajad Salehi, Leila; Mattina, Teresa; Brancati, Francesco; Castori, Marco; Carella, Massimo; Fadda, Maria Teresa; Iannetti, Giorgio; Dallapiccola, Bruno; Digilio, Maria Cristina; Marino, Bruno; Tartaglia, Marco; De Luca, Alessandro.
Afiliación
  • Guida V; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Sparascio FP; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Bernardini L; Department of Experimental Medicine, "Sapienza" University of Rome, Rome, Italy.
  • Pancheri F; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Melis D; Department of Pediatrics, Obstetrics and Gynecology, "Sapienza" University of Rome, Rome, Italy.
  • Cocciadiferro D; Department of Translational Medical Sciences, Section of Pediatrics, University of Naples "Federico II", Naples, Italy.
  • Pagnoni M; Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", University of Salerno, Salerno, Italy.
  • Puzzo M; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Goldoni M; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Barone C; Department of Maxillo-Facial Surgery, Policlinico Umberto I, Rome, Italy.
  • Hozhabri H; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Putotto C; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Giuffrida MG; Medical Genetics, Referral Center for Rare Genetic Diseases, ARNAS Garibaldi, Catania, Italy.
  • Briuglia S; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Palumbo O; Department of Pediatrics, Obstetrics and Gynecology, "Sapienza" University of Rome, Rome, Italy.
  • Bianca S; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Stanzial F; Department of Human Pathology of Adult and Childhood "Gaetano Barresi", Unit of Emergency Pediatrics, University of Messina, Messina, Italy.
  • Benedicenti F; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Kariminejad A; Medical Genetics, Referral Center for Rare Genetic Diseases, ARNAS Garibaldi, Catania, Italy.
  • Forzano F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
  • Baghernajad Salehi L; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
  • Mattina T; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
  • Brancati F; Clinical Genetics Department, Guy's & St Thomas' NHS Foundation Trust, London, UK.
  • Castori M; Medical Genetics Unit, Tor Vergata University Hospital, PTV, Rome, Italy.
  • Carella M; Unit of Medical Genetics, University of Catania, Catania, Italy.
  • Fadda MT; Department of Life, Health and Environmental Sciences, Unit of Medical Genetics University of L'Aquila, L'Aquila, Italy.
  • Iannetti G; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Dallapiccola B; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Digilio MC; Department of Maxillo-Facial Surgery, Policlinico Umberto I, Rome, Italy.
  • Marino B; Department of Maxillo-Facial Surgery, Policlinico Umberto I, Rome, Italy.
  • Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • De Luca A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Clin Genet ; 100(3): 268-279, 2021 09.
Article en En | MEDLINE | ID: mdl-33988253
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variaciones en el Número de Copia de ADN / Síndrome de Goldenhar / Cardiopatías Congénitas Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Dinamarca
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variaciones en el Número de Copia de ADN / Síndrome de Goldenhar / Cardiopatías Congénitas Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Dinamarca