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المؤلفون: Dario Cocciadiferro, Natascia Malerba, Alessandra Vancini, Bartolomeo Augello, Giuseppe Merla, Francesca Romana Lepri, Valentina Pes, Bruno Dallapiccola, Antonio Novelli, Paolo Alfieri, Stefano Sotgiu, Renzo Gherardi, Cristina Caciolo, Iolanda Adipietro, Maria Cristina Digilio, Gabriella Maria Squeo

المساهمون: Lepri, Fr, Cocciadiferro, D, Augello, B, Alfieri, P, Pes, V, Vancini, A, Caciolo, C, Squeo, Gm, Malerba, N, Adipietro, I, Novelli, A, Sotgiu, S, Gherardi, R, Digilio, Mc, Dallapiccola, B, Merla, G

المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 19, Iss 1, p 82 (2017)

مصطلحات موضوعية: 0301 basic medicine, KMT2D gene, Nonsense mutation, Case Report, KMT2D/MLL2, Biology, Catalysis, Frameshift mutation, Inorganic Chemistry, lcsh:Chemistry, 03 medical and health sciences, Intellectual disability, medicine, Physical and Theoretical Chemistry, Molecular Biology, lcsh:QH301-705.5, Spectroscopy, Genetic testing, Genetics, medicine.diagnostic_test, Organic Chemistry, Chromatin modifier, General Medicine, medicine.disease, Computer Science Applications, developmental delay, kabuki syndrome, 030104 developmental biology, mosaicism, lcsh:Biology (General), lcsh:QD1-999, Kabuki syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c400ba4601bf525454988a8b116788b
http://europepmc.org/articles/PMC5796032

المؤلفون: Antonella Sgura, Cecilia Surace, Adriano Angioni, Serena Russo, Andrea Masotti, Raffaella Cusmai, Simona Grotta, Letizia Da Sacco, Maria Cristina Digilio, Stefano Petrocchi, Francesco Berardinelli, Pietro Sirleto, Elisa Pisaneschi, Laura Ciocca, May El Hachem, Maria Cristina Roberti, Gemma D'Elia, Francesca Romana Lepri

المساهمون: Surace, C, Berardinelli, Francesco, Masotti, A, Roberti, Mc, Da Sacco, L, D'Elia, G, Sirleto, P, Digilio, Mc, Cusmai, R, Grotta, S, Petrocchi, S, Hachem, Me, Pisaneschi, E, Ciocca, L, Russo, S, Lepri, Fr, Sgura, Antonella, Angioni, A.

المصدر: Epigenetics & Chromatin

مصطلحات موضوعية: Genetics, Euchromatin, Research, Ring chromosome, Biology, Phenotype, Human genetics, Telomere, Ring 17 chromosome, Telomere shortening, Chromosome 17 (human), Abnormality, Telomere position effect, Molecular Biology, Genetic syndrome, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa9ae0e374fa03f1c561bedfc14b1e75
http://europepmc.org/articles/PMC3892072

المؤلفون: Olivieri G; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Greco B; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Cairoli S; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Catesini G; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Lepri FR; Laboratory of Medical Genetics, Translational Cytogenomics Research Unity, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Orazi L; National Centre of Services and Research for the Prevention of Blindness and Rehabilitation of Visually Impaired, IAPB Italia Onlus, Rome, Italy.; Ophthalmology Unit, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy., Mallardi M; Clinical Psychology Unit, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy., Martinelli D; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Ricci D; National Centre of Services and Research for the Prevention of Blindness and Rehabilitation of Visually Impaired, IAPB Italia Onlus, Rome, Italy.; Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy., Simeoli R; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dionisi-Vici C; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Aug 17. Date of Electronic Publication: 2024 Aug 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

المؤلفون: 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.

المصدر: 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.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Craniosynostoses*/genetics , Craniosynostoses*/pathology , Noonan Syndrome*/genetics , Noonan Syndrome*/pathology , Phenotype*, Humans ; Female ; Male ; Child ; Child, Preschool ; Infant ; Loss of Function Mutation ; Adolescent ; Repressor Proteins/genetics ; Adult

المؤلفون: Artesani MC; Allergy Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Santarsiero S; Otorhinolaryngology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Sitzia E; Otorhinolaryngology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Lepri FR; Laboratory of Medical Genetics, Translational Cytogenomics Research Unity, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Magliozzi M; Laboratory of Medical Genetics, Translational Cytogenomics Research Unity, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Majo F; Paediatric Pulmonology and Cystic Fibrosis Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Ullmann N; Paediatric Pulmonology and Cystic Fibrosis Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Stracuzzi A; Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unity, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Cristalli G; Otorhinolaryngology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Fiocchi A; Allergy Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

المصدر: Frontiers in pediatrics [Front Pediatr] 2024 May 30; Vol. 12, pp. 1345265. Date of Electronic Publication: 2024 May 30 (Print Publication: 2024).

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE

المؤلفون: Tagliaferri F; Division of Metabolism, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Iannuzzi R; Residency School of Pediatrics, Tor Vergata University of Rome, Rome, Italy.; Academic Department of Pediatrics (DPUO), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Canciani G; Residency School of Pediatrics, Tor Vergata University of Rome, Rome, Italy.; Academic Department of Pediatrics (DPUO), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Bernabei SM; Nutritional Rehabilitation Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Campana C; Nutritional Rehabilitation Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Caviglia S; Unit of Clinical Psychology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Greco B; Division of Metabolism, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Unit of Clinical Psychology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Lepri FR; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Pizzoferro M; Nuclear Medicine Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Garganese MC; Nuclear Medicine Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Spada M; Unit of Hepato-biliary-pancreatic Surgery, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Francalanci P; Pathology Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Dionisi-Vici C; Division of Metabolism, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Maiorana A; Division of Metabolism, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.

المصدر: Hormone research in paediatrics [Horm Res Paediatr] 2024 May 28, pp. 1-13. Date of Electronic Publication: 2024 May 28.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Karger Country of Publication: Switzerland NLM ID: 101525157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1663-2826 (Electronic) Linking ISSN: 16632818 NLM ISO Abbreviation: Horm Res Paediatr Subsets: MEDLINE

المؤلفون: Ventresca S; Pediatric Section, University Hospital Arcispedale Sant'Anna, University of Ferrara, Ferrara, Italy.; Endocrinology and Diabetology Unit, Pediatric University Department, Bambino Gesù Children's Hospital, Rome, Italy., Lepri FR; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, Rome, Italy., Criscuolo S; Endocrinology and Diabetology Unit, Pediatric University Department, Bambino Gesù Children's Hospital, Rome, Italy.; Pediatric University Department, Bambino Gesù Children's Hospital, Rome, Italy., Bottaro G; Endocrinology and Diabetology Unit, Pediatric University Department, Bambino Gesù Children's Hospital, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, Rome, Italy., Loche S; Research Area for Innovative Therapies in Endocrinopathies, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Cappa M; Research Area for Innovative Therapies in Endocrinopathies, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

المصدر: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Mar 26; Vol. 15, pp. 1364234. Date of Electronic Publication: 2024 Mar 26 (Print Publication: 2024).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE

مواضيع طبية MeSH: Silver-Russell Syndrome*/drug therapy , Silver-Russell Syndrome*/genetics , Silver-Russell Syndrome*/diagnosis , Human Growth Hormone*/therapeutic use , Human Growth Hormone*/genetics, Child ; Female ; Humans ; Growth Hormone/genetics ; Paternal Inheritance ; Phenotype ; Fetal Growth Retardation/genetics ; Insulin-Like Growth Factor II/genetics

المؤلفون: Siri B; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy. barbara.siri@unito.it.; Department of Paediatrics, Città della Salute e della Scienza, OIRM, University of Turin, Turin, Italy. barbara.siri@unito.it., Olivieri G; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy., Lepri FR; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Poms M; Division of Clinical Chemistry and Biochemistry and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Goffredo BM; Division of Metabolism and Metabolic Diseases Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Commone A; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy., Novelli A; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Dionisi-Vici C; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jan 02; Vol. 19 (1), pp. 3. Date of Electronic Publication: 2024 Jan 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Ornithine Carbamoyltransferase Deficiency Disease*/genetics , Ornithine Carbamoyltransferase Deficiency Disease*/diagnosis , Hyperammonemia*/genetics, Male ; Infant, Newborn ; Humans ; Female ; Nuclear Family ; Heterozygote ; Fathers ; Ornithine Carbamoyltransferase/genetics

المؤلفون: Peluso F; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Caraffi SG; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Contrò G; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Valeri L; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy.; Department of Pediatrics, University of Modena and Reggio Emilia Faculty of Medicine and Surgery, Modena, Emilia-Romagna, Italy., Napoli M; Neuroradiology Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Carboni G; Radiology Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Seth A; Radiology, Rigshospitalet, Kobenhavn, Denmark., Zuntini R; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Coccia E; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Astrea G; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy., Bisgaard AM; Center for Rare Diseases, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Kobenhavn, Denmark., Ivanovski I; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Maitz S; Service of Medical Genetics, IOSI, EOC, Lugano, Switzerland., Brischoux-Boucher E; Hunter Genetics, John Hunter Hospital, New Lambton Heights, New South Wales, Australia., Carter MT; The University of Newcastle, Callaghan, New South Wales, Australia., Dentici ML; Department of Clinical Genetics, Copenhagen University Hospital, Kobenhavn, Denmark., Devriendt K; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark., Bellini M; Department of Pediatrics, University of Modena and Reggio Emilia, Modena, Italy., Digilio MC; Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy., Doja A; The University of Newcastle, Callaghan, New South Wales, Australia., Dyment DA; The University of Newcastle, Callaghan, New South Wales, Australia., Farholt S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands., Ferreira CR; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Coimbra, Portugal., Wolfe LA; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Coimbra, Portugal., Gahl WA; National Human Genome Research Institute, Bethesda, Maryland, USA., Gnazzo M; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy., Goel H; Hunter Genetics, John Hunter Hospital, New Lambton Heights, New South Wales, Australia.; The University of Newcastle, Callaghan, New South Wales, Australia., Grønborg SW; Center for Rare Diseases, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Kobenhavn, Denmark.; Department of Clinical Genetics, Copenhagen University Hospital, Kobenhavn, Denmark., Hammer T; Department of Clinical Genetics, Copenhagen University Hospital, Kobenhavn, Denmark.; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark., Iughetti L; Department of Pediatrics, University of Modena and Reggio Emilia, Modena, Italy.; Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands., Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands., Lepri FR; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy., Lemire G; Department of Genetics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Ontario, Canada., Louro P; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Coimbra, Portugal., McCullagh G; Royal Manchester Children's Hospital and University of Manchester, Royal Manchester Children's Hospital, Manchester, Manchester, UK., Madeo SF; Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy., Milone A; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy., Milone R; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy., Nielsen JEK; Department of Pediatrics, Zealand University Hospital Roskilde, Roskilde, Sjaelland, Denmark., Novelli A; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands., Pascarella R; Neuroradiology Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Pippucci T; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna Policlinico S Orsola, Bologna, Emilia-Romagna, Italy., Ricca I; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy., Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Sawyer S; Department of Genetics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Ontario, Canada., Falkenberg Smeland M; Department of Medical Genetics, University Hospital of North Norway, Tromso, Troms, Norway., Stegmann S; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, Limburg, Netherlands., Stumpel CT; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, Limburg, Netherlands., Goel A; University of Newcastle, Callaghan, The University of Newcastle, Callaghan, New South Wales, Australia., Taylor JM; Genetic Health Service - Northern Hub, Genetic Health Service - Northern Hub, Aukland, New Zealand., Barbuti D; Radiology and Bioimaging Unit, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy., Soresina A; Paediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Ex-perimental Sciences, ASST Spedali Civili di Brescia, Brescia, Lombardia, Italy., Bedeschi MF; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Battini R; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Calambrone, Toscana, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Toscana, Italy., Cavalli A; Child Neurology and Psychiatry Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Fusco C; Child Neurology and Psychiatry Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy., Iascone M; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Lombardia, Italy., Van Maldergem L; Centre de génétique humaine, Université de Franche-Comté, Centre Hospitalier Universitaire de Besancon, Besancon, France., Venkateswaran S; The University of Newcastle, Callaghan, New South Wales, Australia., Zuffardi O; Department of Molecular Medicine, University of Pavia, Pavia, Lombardia, Italy., Vergano S; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Garavelli L; Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Emilia-Romagna, Italy livia.garavelli@ausl.re.it., Bayat A; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services Research, University of Southern Denmark, Odense, Syddanmark, Denmark.

المصدر: Journal of medical genetics [J Med Genet] 2023 Nov 27; Vol. 60 (12), pp. 1224-1234. Date of Electronic Publication: 2023 Nov 27.

نوع المنشور: Review; Journal Article

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/diagnosis , Intellectual Disability*/genetics , Abnormalities, Multiple*/diagnosis , Abnormalities, Multiple*/genetics , Bone Diseases, Developmental*/diagnostic imaging , Bone Diseases, Developmental*/genetics , Tooth Abnormalities*/diagnostic imaging , Tooth Abnormalities*/genetics, Humans ; Facies ; Phenotype ; Repressor Proteins/genetics ; Transcription Factors ; Neuroimaging

SCR Disease Name: KBG syndrome