A long way to syndromic short stature.

Autor: Gaudioso F; Clinical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, 20122, Italy., Meossi C; Clinical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, 20122, Italy. Camilla.meossi@fsm.unipi.it.; Unità di Genetica medica, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Via della Commenda, 9, Milano, 20122, Italy. Camilla.meossi@fsm.unipi.it.; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy. Camilla.meossi@fsm.unipi.it., Pezzani L; Clinical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, 20122, Italy.; Paediatric Unit, ASST Papa Giovanni XXIII, Bergamo, 24127, Italy., Grilli F; Clinical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, 20122, Italy., Silipigni R; Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy., Russo S; Experimental Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, Milano, 20145, Italy., Masciadri M; Experimental Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, Milano, 20145, Italy., Vimercati A; Experimental Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, Milano, 20145, Italy., Marchisio PG; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, 20122, Italy.; Department of Pathophysiology and Transplantation, University of Milan, Milano, Italy., Bedeschi MF; Clinical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, 20122, Italy., Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, 20122, Italy.

Publikováno v: Italian journal of pediatrics [Ital J Pediatr] 2024 Sep 27; Vol. 50 (1), pp. 192. Date of Electronic Publication: 2024 Sep 27.

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.

CATSHL syndrome, a new family and phenotypic expansion.

Autor: Cannova S; Università degli Studi di Milano, Milano, Italy., Meossi C; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy., Grilli F; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy., Milani D; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy., Alberti F; Università degli Studi di Milano, Milano, Italy., Cesaretti C; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy., Marchisio PG; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy.; Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti, Università degli Studi di Milano, Milano, Italy., Crosti F; UO Genetica Medica, IRCCS San Gerardo, Monza, Italy., Pezzani L; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy.; UO Pediatria, ASST Papa Giovanni XXIII, Bergamo, Italy.

Publikováno v: Clinical genetics [Clin Genet] 2024 Mar; Vol. 105 (3), pp. 313-316. Date of Electronic Publication: 2023 Nov 22.

Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW-related prenatal findings.

Autor: Ronzoni L; Clinical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Policlinico di Milano, Milan, Italy., Boito S; Fetal Medicine and Surgery Service, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Meossi C; Clinical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Policlinico di Milano, Milan, Italy., Cesaretti C; Clinical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Policlinico di Milano, Milan, Italy., Rinaldi B; Clinical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Policlinico di Milano, Milan, Italy., Agolini E; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Rizzuti T; Division of Pathology, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Pezzoli L; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy., Silipigni R; Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Novelli A; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Iascone M; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy., Persico N; Fetal Medicine and Surgery Service, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Natacci F; Clinical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Policlinico di Milano, Milan, Italy.

Publikováno v: Prenatal diagnosis [Prenat Diagn] 2022 Nov; Vol. 42 (12), pp. 1493-1502. Date of Electronic Publication: 2022 Jul 19.

Maturity-onset diabetes of the young in children with incidental hyperglycemia: A multicenter Italian study of 172 families

Autor: Lorini, R., Klersy, C., D'Annunzio, G., Massa, O., Minuto, N., Iafusco, D., Bellanne-Chantelot, C., Frongia, A. P., Toni, S., Meschi, F., Cerutti, F., Barbetti, F., Banin, P., Cadario, F., Calisti, L., Cappa, M., Crino, A., Cherubini, V., Chiari, G., Vanelli, M., Cotellessa, M., D'Amato, E., Cauvin, V., Franzese, A., Guazzarotti, L., Iughetti, L., Mancabitti, M. L., Meossi, C., Pinelli, L., Pocecco, M., Scaramuzza, A., Sulli, N., Visentin, A.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3674::0f52a0895bc9edddacbd38a8be3f1705
https://hdl.handle.net/11380/1280799