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Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.
Piceci-Sparascio, Francesca; Micale, Lucia; Torres, Barbara; Guida, Valentina; Consoli, Federica; Torrente, Isabella; Onori, Annamaria; Frustaci, Emanuela; D'Asdia, Maria Cecilia; Petrizzelli, Francesco; Bernardini, Laura; Mancini, Cecilia; Soli, Fiorenza; Cocciadiferro, Dario; Guadagnolo, Daniele; Mastromoro, Gioia; Putotto, Carolina; Fontana, Franco; Brunetti-Pierri, Nicola; Novelli, Antonio; Pizzuti, Antonio; Marino, Bruno; Digilio, Maria Cristina; Mazza, Tommaso; Dallapiccola, Bruno; Ruiz-Perez, Victor Luis; Tartaglia, Marco; Castori, Marco; De Luca, Alessandro.
Afiliação
  • Piceci-Sparascio F; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Micale L; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Torres B; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Guida V; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Consoli F; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Torrente I; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Onori A; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Frustaci E; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • D'Asdia MC; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Petrizzelli F; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Bernardini L; Laboratory of Bioinformatics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Mancini C; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Soli F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Cocciadiferro D; Medical Genetic Unit, Santa Chiara Hospital APSS, Trento, Italy.
  • Guadagnolo D; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital and Research Institute, IRCCS, Rome, Italy.
  • Mastromoro G; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Putotto C; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Fontana F; Department of Pediatrics, Obstetrics and Gynecology, "Sapienza" University of Rome, Rome, Italy.
  • Brunetti-Pierri N; Pediatric Hospital, Tortona, Italy.
  • Novelli A; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
  • Pizzuti A; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Marino B; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital and Research Institute, IRCCS, Rome, Italy.
  • Digilio MC; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Mazza T; Department of Pediatrics, Obstetrics and Gynecology, "Sapienza" University of Rome, Rome, Italy.
  • Dallapiccola B; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Ruiz-Perez VL; Laboratory of Bioinformatics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Castori M; Instituto de Investigaciones Biomédicas 'Alberto Sols', CSIC-UAM, Madrid, Spain.
  • De Luca A; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
Eur J Hum Genet ; 31(4): 479-484, 2023 04.
Article em En | MEDLINE | ID: mdl-36599940
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Ellis-Van Creveld / Polidactilia / Dineínas do Citoplasma / Ciliopatias Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Ellis-Van Creveld / Polidactilia / Dineínas do Citoplasma / Ciliopatias Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Itália