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Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Leone, Maria Pia; Morlino, Silvia; Nardella, Grazia; Pracella, Riccardo; Giachino, Daniela; Celli, Luca; Baldo, Demetrio; Turolla, Licia; Piccione, Maria; Salzano, Emanuela; Busè, Martina; Lastella, Patrizia; Zollino, Marcella; Cantone, Rachele; Grosso, Enrico; Zonta, Andrea; Pasini, Barbara; Piscopo, Carmelo; De Maggio, Ilaria; Priolo, Manuela; Mammi, Corrado; Foiadelli, Thomas; Trabatti, Chiara; Savasta, Salvatore; Iolascon, Achille; Ferraris, Alessandro; Lodato, Valentina; Di Giosaffatte, Niccolò; Majore, Silvia; Selicorni, Angelo; Petracca, Antonio; Fusco, Carmela; Celli, Mauro; Guarnieri, Vito; Micale, Lucia; Castori, Marco.
Afiliación
  • Leone MP; Division of Medical Genetics, Poliambulatorio "Giovanni Paolo II", Fondazione IRCCS-Casa Sollievo della Sofferenza, Viale Padre Pio 7, 71013, San Giovanni Rotondo, Italy.
  • Morlino S; Division of Medical Genetics, Poliambulatorio "Giovanni Paolo II", Fondazione IRCCS-Casa Sollievo della Sofferenza, Viale Padre Pio 7, 71013, San Giovanni Rotondo, Italy.
  • Nardella G; Division of Medical Genetics, Poliambulatorio "Giovanni Paolo II", Fondazione IRCCS-Casa Sollievo della Sofferenza, Viale Padre Pio 7, 71013, San Giovanni Rotondo, Italy.
  • Pracella R; Division of Medical Genetics, Poliambulatorio "Giovanni Paolo II", Fondazione IRCCS-Casa Sollievo della Sofferenza, Viale Padre Pio 7, 71013, San Giovanni Rotondo, Italy.
  • Giachino D; Medical Genetics Unit, Department of Clinical and Biological Sciences, University of Turin, AOU 'S. Luigi Gonzaga', Orbassano, Turin, Italy.
  • Celli L; Center for Rare Diseases, AOU Policlinico 'Umberto I', Rome, Italy.
  • Baldo D; Medical Genetics Unit, AULSS2 Marca Trevigiana, Treviso, Italy.
  • Turolla L; Medical Genetics Unit, AULSS2 Marca Trevigiana, Treviso, Italy.
  • Piccione M; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy.
  • Salzano E; Division of Medical Genetics, AOOR Villa Sofia-Cervello, Palermo, Italy.
  • Busè M; Division of Medical Genetics, AOOR Villa Sofia-Cervello, Palermo, Italy.
  • Lastella P; Division of Medical Genetics, AOOR Villa Sofia-Cervello, Palermo, Italy.
  • Zollino M; Centro Sovraziendale Malattie Rare - UOC Medicina Interna Universitaria "C. Frugoni" - AOU Policlinico Consorziale di Bari, Bari, Italy.
  • Cantone R; Institute of Genomic Medicine, Department of Life Sciences and Public Health, 'Sacro Cuore' Catholic University of Rome, Rome, Italy.
  • Grosso E; Medical Genetics Unit, Foundation IRCCS AOU Policlinico 'A. Gemelli', Rome, Italy.
  • Zonta A; Medical Genetics Unit, AOU 'Città della Salute e della Scienza' - 'Molinette' Hospital, Turin, Italy.
  • Pasini B; Medical Genetics Unit, AOU 'Città della Salute e della Scienza' - 'Molinette' Hospital, Turin, Italy.
  • Piscopo C; Medical Genetics Unit, AOU 'Città della Salute e della Scienza' - 'Molinette' Hospital, Turin, Italy.
  • De Maggio I; Medical Genetics Unit, AOU 'Città della Salute e della Scienza' - 'Molinette' Hospital, Turin, Italy.
  • Priolo M; Medical and Laboratory Genetics Unit, AORN 'Antonio Cardarelli', Naples, Italy.
  • Mammi C; Medical and Laboratory Genetics Unit, AORN 'Antonio Cardarelli', Naples, Italy.
  • Foiadelli T; Medical Genetics Unit, Grande Ospedale Metropolitano 'Bianchi Melacrino Morelli', Reggio Calabria, Italy.
  • Trabatti C; Medical Genetics Unit, Grande Ospedale Metropolitano 'Bianchi Melacrino Morelli', Reggio Calabria, Italy.
  • Savasta S; Clinica Pediatrica, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
  • Iolascon A; Division of Pediatrics, Azienda Socio Sanitaria Territoriale (ASST) Crema, Crema, Italy.
  • Ferraris A; Division of Pediatrics, Azienda Socio Sanitaria Territoriale (ASST) Crema, Crema, Italy.
  • Lodato V; Department of Molecular Medicine and Medical Biotechnologies, Federico II' University of Naples, Naples, Italy.
  • Di Giosaffatte N; CEINGE Biotecnologie Avanzate, Naples, Italy.
  • Majore S; Clinical Genetics Unit, UOC Laboratory of Medical Genetics, Department of Experimental Medicine at, Sapienza University, AO San Camillo-Forlanini, Rome, Italy.
  • Selicorni A; Clinical Genetics Unit, UOC Laboratory of Medical Genetics, Department of Experimental Medicine at, Sapienza University, AO San Camillo-Forlanini, Rome, Italy.
  • Petracca A; Clinical Genetics Unit, UOC Laboratory of Medical Genetics, Department of Experimental Medicine at, Sapienza University, AO San Camillo-Forlanini, Rome, Italy.
  • Fusco C; Clinical Genetics Unit, UOC Laboratory of Medical Genetics, Department of Experimental Medicine at, Sapienza University, AO San Camillo-Forlanini, Rome, Italy.
  • Celli M; Department of Pediatrics, Center for Fragile Child, ASST Lariana Sant'Anna Hospital, Como, San Fermo della Battaglia, Italy.
  • Guarnieri V; Division of Medical Genetics, Poliambulatorio "Giovanni Paolo II", Fondazione IRCCS-Casa Sollievo della Sofferenza, Viale Padre Pio 7, 71013, San Giovanni Rotondo, Italy.
  • Micale L; Division of Medical Genetics, Poliambulatorio "Giovanni Paolo II", Fondazione IRCCS-Casa Sollievo della Sofferenza, Viale Padre Pio 7, 71013, San Giovanni Rotondo, Italy.
  • Castori M; Center for Rare Diseases, AOU Policlinico 'Umberto I', Rome, Italy.
Hum Genet ; 142(6): 785-808, 2023 Jun.
Article en En | MEDLINE | ID: mdl-37079061
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Inestabilidad de la Articulación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Humans País/Región como asunto: America do norte Idioma: En Revista: Hum Genet Año: 2023 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Alemania
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: Variación Genética / Inestabilidad de la Articulación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Humans País/Región como asunto: America do norte Idioma: En Revista: Hum Genet Año: 2023 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Alemania