Congenital heart defects in the recurrent 2q13 deletion syndrome

Autor: Digilio, M.C., Dentici, M.L., Loddo, S., Laino, L., Calcagni, G., Genovese, S., Capolino, R., Bottillo, I., Calvieri, G., Dallapiccola, B., Marino, B., Novelli, A., Versacci, P.

Publikováno v: In European Journal of Medical Genetics January 2022 65(1)

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

Autor: Dentici ML; Rare Diseases and Medical Genetics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Niceta M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Lepri FR; Translational Cytogenomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Mancini C; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Priolo M; Medical and Molecular Genetics, Ospedale Cardarelli, 80131, Naples, Italy., Bonnard AA; Service de de Génétique Moléculaire Hôpital Robert Debré, GHU AP-HP Nord - Université Paris Cité, INSERM UMR_S1131, Institut Universitaire d'Hématologie, Université Paris Cité, Paris-Cité, 75019, Paris, France., Cappelletti C; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.; Department of Biomedicine and Prevention, Università di Roma 'Tor Vergata', 00133, Rome, Italy., Leoni C; Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Rome, Italy.; Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168, Rome, Italy., Ciolfi A; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Pizzi S; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Cordeddu V; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161, Rome, Italy., Rossi C; Medical Genetics, IRCSS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy., Ferilli M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Mucciolo M; Translational Cytogenomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Colona VL; Rare Diseases and Medical Genetics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Fauth C; Institute for Human Genetics, Medical University Innsbruck, 6020, Innsbruck, Austria., Bellini M; Pediatrics and Neonatology, Gugliemo da Saliceto Hospital, 29121, Piacenza, Italy., Biasucci G; Pediatrics and Neonatology, Gugliemo da Saliceto Hospital, 29121, Piacenza, Italy., Sinibaldi L; Rare Diseases and Medical Genetics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Briuglia S; Genetics and Pharmacogenetics, Ospedale Universitario 'Gaetano Martino', 98125, Messina, Italy., Gazzin A; Pediatric Clinical Genetics, Ospedale Pediatrico 'Regina Margherita', 10126, Torino, Italy., Carli D; Department of Medical Sciences, Università of Torino, 10126, Torino, Italy., Memo L; Medical Genetics, Institute for Maternal and Child Health-IRCCS, Burlo Garofolo, 34127, Trieste, Italy., Trevisson E; Department of Women's and Children's Health, Università di Padova, 35128, Padova, Italy., Schiavariello C; Department of Pediatrics, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy., Luca M; Department of Medical Sciences, Università of Torino, 10126, Torino, Italy., Novelli A; Translational Cytogenomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Michot C; Center for Skeletal Dysplasia, Necker-Enfants Malades Hospital, Paris Cité University, INSERM UMR 1163, Imagine Institute, 75015, Paris, France., Sweertvaegher A; Service de Pédiatrie, Centre hospitalier de Saint-Quentin, 02321, Saint-Quentin, France., Germanaud D; Département de Génétique, CEA Paris-Saclay, NeuroSpin, Gif-sur-Yvette, France.; Service de Génétique Clinique, AP-HP, Hôpital Robert-Debré, 75019, Paris, France., Scarano E; Department of Pediatrics, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy., De Luca A; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013, San Giovanni, Rotondo, Italy., Zampino G; Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Rome, Italy.; Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168, Rome, Italy., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, 39120, Magdeburg, Germany., Mussa A; Department of Medical Sciences, Università of Torino, 10126, Torino, Italy., Dallapiccola B; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Cavé H; Service de de Génétique Moléculaire Hôpital Robert Debré, GHU AP-HP Nord - Université Paris Cité, INSERM UMR_S1131, Institut Universitaire d'Hématologie, Université Paris Cité, Paris-Cité, 75019, Paris, France., Digilio MC; Rare Diseases and Medical Genetics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy. marco.tartaglia@opbg.net.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Aug; Vol. 32 (8), pp. 954-963. Date of Electronic Publication: 2024 Jun 01.

DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.

Autor: Niceta M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Ciolfi A; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Ferilli M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Department of Computer, Control and Management Engineering, Sapienza University, 00185, Rome, Italy., Pedace L; Department of Pediatric Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy., Cappelletti C; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Nardini C; Department of Pediatric Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy., Hildonen M; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshopsitalet, 2600, Glostrup, Denmark., Chiriatti L; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Miele E; Department of Pediatric Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy., Dentici ML; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Gnazzo M; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Cesario C; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Pisaneschi E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Baban A; Pediatric Cardiology and Cardiac Arrhythmias Unit, Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Maitz S; Genetica Clinica Pediatrica, Fondazione MBBM, ASST Monza Ospedale San Gerardo, 20900, Monza, Italy., Selicorni A; Pediatria, Ospedale Sant'Anna, ASST Lariana, 22100, Como, Italy., Squeo GM; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013, Foggia, Italy., Merla G; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013, Foggia, Italy.; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131, Naples, Italy., Dallapiccola B; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Tumer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshopsitalet, 2600, Glostrup, Denmark.; Department of Clinical Medicine, Faculty of Medicine and Health Sciences, University of Copenhagen, 2200, Copenhagen, Denmark., Digilio MC; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Priolo M; Medical and Laboratory Genetics, Antonio Cardarelli Hospital, 80131, Naples, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy. marco.tartaglia@opbg.net.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jul; Vol. 32 (7), pp. 819-826. Date of Electronic Publication: 2024 Mar 25.

Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing lossHow to cite this article: Kornak U, Brancati F, Le Merrer M, Lichtenbelt K, Höhne W, Tinschert S, Garaci FG, Dallapiccola B, Nürnberg P. 2010. Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. Am J Med Genet Part A 152A:870–874.

Autor: Kornak, Uwe, Brancati, Francesco, Le Merrer, Martine, Lichtenbelt, Klaske, Höhne, Wolfgang, Tinschert, Sigrid, Garaci, Francesco Giuseppe, Dallapiccola, Bruno, Nürnberg, Peter

Publikováno v: American Journal of Medical Genetics. Part A; April 2010, Vol. 152 Issue: 4 p870-874, 5p

Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtiaHow to cite this article: Salpietro CD, Briuglia S, Cutrupi MC, Gallizzi R, Rigoli L, Dallapiccola B. 2009. Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia. Am J Med Genet Part A 149A:2270–2273.

Autor: Salpietro, Carmelo Damiano, Briuglia, Silvana, Cutrupi, Maria Concetta, Gallizzi, Romina, Rigoli, Luciana, Dallapiccola, Bruno

Publikováno v: American Journal of Medical Genetics. Part A; October 2009, Vol. 149 Issue: 10 p2270-2273, 4p