An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.

Autor: Lucia-Campos C; Department of Pharmacology and Physiology, Unit of Clinical Genetics and Functional Genomics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain., Parenti I; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Latorre-Pellicer A; Department of Pharmacology and Physiology, Unit of Clinical Genetics and Functional Genomics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain., Gil-Salvador M; Department of Pharmacology and Physiology, Unit of Clinical Genetics and Functional Genomics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain., Bestetti I; SS Medical Genetics Laboratory, SC Clinical Pathology, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Finelli P; SS Medical Genetics Laboratory, SC Clinical Pathology, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, Milan, Italy., Larizza L; Experimental Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy., Arnedo M; Department of Pharmacology and Physiology, Unit of Clinical Genetics and Functional Genomics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain., Ayerza-Casas A; Department of Pharmacology and Physiology, Unit of Clinical Genetics and Functional Genomics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Paediatric Cardiology, Service of Paediatrics, University Hospital 'Miguel Servet', Zaragoza, Spain., Del Rincón J; Department of Pharmacology and Physiology, Unit of Clinical Genetics and Functional Genomics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain., Trujillano L; Department of Pharmacology and Physiology, Unit of Clinical Genetics and Functional Genomics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Morte B; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Pérez-Jurado LA; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Genetics Service, Hospital del Mar Research Institute (IMIM), Barcelona, Spain.; Genetics Unit, University Pompeu Fabra, Barcelona, Spain., Lapunzina P; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Institute of Medical and Molecular Genetics (INGEMM), University Hospital 'La Paz'-IdiPAZ, Madrid, Spain.; ERN-ITHACA, University Hospital La Paz, Madrid, Spain., Leitão E; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Beygo J; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Lich C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Kilpert F; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Kaya S; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Depienne C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Kaiser FJ; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Center for Rare Diseases (Essener Zentrum für Seltene Erkrankungen, EZSE), University Hospital Essen, Essen, Germany., Ramos FJ; Department of Paediatrics, Unit of Clinical Genetics, Service of Paediatrics, University Hospital 'Lozano Blesa', School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain., Puisac B; Department of Pharmacology and Physiology, Unit of Clinical Genetics and Functional Genomics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain., Pié J; Department of Pharmacology and Physiology, Unit of Clinical Genetics and Functional Genomics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.

Publikováno v: Frontiers in genetics [Front Genet] 2024 Nov 01; Vol. 15, pp. 1472543. Date of Electronic Publication: 2024 Nov 01 (Print Publication: 2024).

Editorial: The clinical utility of long read sequencing to improve diagnostic yield and uncover biological mechanisms in rare disease.

Autor: Larizza L; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy., Watson CM; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, United Kingdom.; North East and Yorkshire Genomic Laboratory Hub, Central Lab, St James's University Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom., Gillentine MA; Department of Laboratories, Seattle Children's Hospital, Seattle, WA, United States., Finelli P; Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, University of Milan, Milan, Italy.; Medical Genetics Laboratory, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Publikováno v: Frontiers in genetics [Front Genet] 2024 Oct 04; Vol. 15, pp. 1494860. Date of Electronic Publication: 2024 Oct 04 (Print Publication: 2024).

Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.

Autor: Cogliati F; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy., Straniero L; Department of Biomedical Sciences, Humanitas University, Milan, Italy.; IRCCS Humanitas Research Hospital, Milan, Italy., Rimoldi V; Department of Biomedical Sciences, Humanitas University, Milan, Italy.; IRCCS Humanitas Research Hospital, Milan, Italy., Masciadri M; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy., Perego S; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy., Rinaldi B; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Medical Genetics Unit, Milan, Italy., Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Gentilini D; Bioinformatics and Statistical Genomics Unit, IRCCS Istituto Auxologico Italiano, Cusano Milanino, Italy.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Larizza L; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy., Asselta R; Department of Biomedical Sciences, Humanitas University, Milan, Italy.; IRCCS Humanitas Research Hospital, Milan, Italy., Russo S; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy., Bedeschi MF; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Medical Genetics Unit, Milan, Italy.

Publikováno v: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2024 Sep; Vol. 195 (6), pp. e32976. Date of Electronic Publication: 2024 Feb 22.

Prenatal diagnosis of a small chromosome 2‐derived supernumerary marker, and review of the reported casesHow to cite this article: Giardino D, Valtorta E, De Canal G, Corti C, Valtorta C, Finelli P, Vardè C, Iandolo M, Marchese C, Larizza L. 2007. Prenatal diagnosis of a small chromosome 2‐derived supernumerary marker, and review of the reported cases. Am J Med Genet Part A 143A:2200–2203.

Autor: Giardino, Daniela, Valtorta, Emanuele, De Canal, Gabriella, Corti, Cecilia, Valtorta, Chiara, Finelli, Palma, Vardè, Concetta, Iandolo, Maria, Marchese, Cristiana, Larizza, Lidia

Publikováno v: American Journal of Medical Genetics. Part A; September 2007, Vol. 143 Issue: 18 p2200-2203, 4p

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

Autor: Lacombe D; Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France didier.lacombe@chu-bordeaux.fr., Bloch-Zupan A; Faculté de Chirurgie Dentaire, Université de Strasbourg, and Centre de référence des maladies rares orales et dentaires, Hôpitaux Universitaires de Strasbourg, Strasbourg, and Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, Illkirch, France., Bredrup C; Department of Clinical Medicine, University of Bergen, 5020 Bergen, Norway., Cooper EB; Department of Anesthesiology, Cincinnati Children's Hospital, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Houge SD; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway and Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., García-Miñaúr S; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Kayserili H; Department of Medical Genetics, Koc University School of Medicine (KUSOM), 34010 Istanbul, Turkey., Larizza L; Laboratorio di Ricerca in Citogenetica medica e Genetica Molecolare, Centro di Ricerche e Tecnologie Biomediche IRCCS-Istituto Auxologico Italiano, Milano, Italy., Lopez Gonzalez V; Department of Pediatrics, Medical Genetics Section, Virgen de la Arrixaca University Hospital, IMIB, CIBERER, Murcia, Spain., Menke LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Milani D; Fondazione IRCCS, Ca'Granda Ospedale Maggiore, 20122 Milan, Italy., Saettini F; Fondazione Matilde Tettamanti Menotti De Marchi Onlus, Fondazione Monza e Brianza per il Bambino e la sua Mamma, Monza, Italy., Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA., Tooke L; Department of Pediatrics, Groote Schuur Hospital, University of Cape Town, Cape Town, South Africa., Van der Zee JA; Department of Pediatric Urology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Van Genderen MM; Bartiméus Diagnostic Center for complex visual disorders, Zeist and Department of Ophthalmology, University Medical Center Utrecht, Utrecht, Netherlands., Van-Gils J; Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France., Waite J; School of Psychology, College of Health and Life Sciences, Aston University, Birmingham, UK., Adrien JL; Université de Paris, Laboratoire de Psychopathologie et Processus de Santé, Boulogne Billancourt, France., Bartsch O; MVZ - Humangenetik, University Medical Center, Johannes Gutenberg University Mainz, 55131 Mainz, Germany., Bitoun P; Département de Genetique, SIDVA 91, Juvisy-sur-Orge, France., Bouts AHM; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Cueto-González AM; Department of Clinical and Molecular Genetics, University Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Dominguez-Garrido E; Molecular Diagnostics Laboratory, Fundacion Rioja Salud, La Rioja, Spain., Duijkers FA; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Fergelot P; Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France., Halstead E; Psychology and Human Development Department, University College London, London, UK., Huisman SA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Zodiak, Prinsenstichting, Purmerend, Netherlands., Meossi C; Fondazione IRCCS, Ca'Granda Ospedale Maggiore, 20122 Milan, Italy., Mullins J; Rubinstein-Taybi Syndrome Support Group, Registered Charity, Rickmansworth, UK., Nikkel SM; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Oliver C; School of Psychology, University of Birmingham, Edgbaston, UK., Prada E; Fondazione IRCCS, Ca'Granda Ospedale Maggiore, 20122 Milan, Italy., Rei A; Associazione Rubinstein-Taybi Syndrome-Una Vita Speciale, Organizzazione di Volontariato (ODV), Gornate Olona, Varese, Italy., Riddle I; Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA., Rodriguez-Fonseca C; Asociación Española para el Sindrome de Rubinstein-Taybi (AESRT), Madrid, Spain., Rodríguez Pena R; Immunology, Hospital Universitario La Paz, IdiPaz, Madrid, Spain., Russell J; Associazione Rubinstein-Taybi Syndrome-Una Vita Speciale, Organizzazione di Volontariato (ODV), Gornate Olona, Varese, Italy., Saba A; French RTS Support Group, Paris, France., Santos-Simarro F; Unit of Molecular Diagnostics and Clinical Genetics, Hospital Universitari Son Espases, Health Research Institute of the Balearic Islands (IdISBa), Palma, Spain., Simpson BN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, Cincinnati School of Medicine, Cincinnati, Ohio, USA., Smith DF; Department of Pediatric Otolaryngology, Cincinnati Children's Hospital Medical Center, and Department of Otolaryngology - Head and Neck Surgery, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Stevens MF; Department of Anesthesiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Szakszon K; Institution of Pediatrics, University of Debrecen Clinical Centre, Debrecen, Hungary., Taupiac E; Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France., Totaro N; Associazione Rubinstein-Taybi Syndrome-Una Vita Speciale, Organizzazione di Volontariato (ODV), Gornate Olona, Varese, Italy., Valenzuena Palafoll I; Department of Clinical and Molecular Genetics, University Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Van Der Kaay DCM; Division of Paediatric Endocrinology, Department of Paediatrics, Erasmus University Medical Centre, Sophia Children's Hospital, Rotterdam, The Netherlands., Van Wijk MP; Department of Pediatric Gastroenterology, Emma Children's Hospital, Amsterdam UMC, University Amsterdam, Amsterdam, Netherlands., Vyshka K; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Robert Debré University Hospital, Paris, France., Wiley S; Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA., Hennekam RC; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.

Publikováno v: Journal of medical genetics [J Med Genet] 2024 May 21; Vol. 61 (6), pp. 503-519. Date of Electronic Publication: 2024 May 21.