Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease.
Autorzy:
Siri B; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy. .; Department of Paediatrics, Città della Salute e della Scienza, OIRM, University of Turin, Turin, Italy. . Olivieri G; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy. LepriFR; 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.
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Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jan 02; Vol. 19 (1), pp. 3. Date of Electronic Publication: 2024 Jan 02.
Deep Intronic LINE-1 Insertions in NF1 : Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements.
Autorzy:
Alesi V; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy. Genovese S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy. LepriFR; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy. Catino G; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy. Loddo S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy. Orlando V; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy. Di Tommaso S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy. Morgia A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy. Martucci L; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy. Di Donato M; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy. Digilio MC; Medical Genetics Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.; Genetics and Rare Disease Research Division, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy. Dallapiccola B; Genetics and Rare Disease Research Division, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy. Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy. Capolino R; Medical Genetics Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.; Genetics and Rare Disease Research Division, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
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Biomolecules [Biomolecules] 2023 Apr 23; Vol. 13 (5). Date of Electronic Publication: 2023 Apr 23.
AIRE mutation triggering acute liver failure: between genetic testing and treatment options.
Autorzy:
Pietrobattista A; Hepatology Gastroenterology and Nutrition, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization, and Health Care, Rome, Italy. Della Corte C; Hepatology Gastroenterology and Nutrition, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization, and Health Care, Rome, Italy. Francalanci P; Department of Pathology, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization, and Health Care, Rome, Italy. LepriFR; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization, and Health Care, Rome, Italy. Maggiore G; Hepatology Gastroenterology and Nutrition, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization, and Health Care, Rome, Italy.
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Pediatric transplantation [Pediatr Transplant] 2021 Dec; Vol. 25 (8), pp. e14118. Date of Electronic Publication: 2021 Aug 16.
The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature.
Autorzy:
Pepi C; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Member of European Reference Network EpiCARE, 00165 Rome, Italy. de Palma L; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Member of European Reference Network EpiCARE, 00165 Rome, Italy. Trivisano M; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Member of European Reference Network EpiCARE, 00165 Rome, Italy. Pietrafusa N; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Member of European Reference Network EpiCARE, 00165 Rome, Italy. LepriFR; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesù Children Hospital, IRCCS, 00165 Rome, Italy. Diociaiuti A; Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Member of European Reference Network SKIN, 00165 Rome, Italy. Camassei FD; Department of Laboratories-Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy. Carfi-Pavia G; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Member of European Reference Network EpiCARE, 00165 Rome, Italy. De Benedictis A; Neurosurgery Unit, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Member of European Reference Network EpiCARE, 00165 Rome, Italy. Rossi-Espagnet C; Neuroradiology Unit, Imaging Department, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Neuroradiology Unit, NESMOS Department, Sapienza University, 00165 Rome, Italy. Vigevano F; Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Member of European Reference Network EpiCARE, 00165 Rome, Italy. Marras CE; Neurosurgery Unit, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Member of European Reference Network EpiCARE, 00165 Rome, Italy. Novelli A; Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Gesù Children Hospital, IRCCS, 00165 Rome, Italy. Bluemcke I; Institute of Neuropathology, Member of European Reference Network EpiCARE, University Hospitals Erlangen, 91054 Erlangen, Germany. Specchio N; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Member of European Reference Network EpiCARE, 00165 Rome, Italy.
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Źródło:
Brain sciences [Brain Sci] 2021 Jun 16; Vol. 11 (6). Date of Electronic Publication: 2021 Jun 16.
Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature.
Autorzy:
Lodi M; Department of Paediatric Haematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy. Boccuto L; School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, Clemson, SC 29634, USA.; JC Self Research Institute of the Greenwood Genetic Center, Greenwood, SC 29646, USA. Carai A; Neurosurgery Unit, Department of Neuroscience and Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy. Cacchione A; Department of Paediatric Haematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy. Miele E; Department of Paediatric Haematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy. Colafati GS; Neuroradiology Unit, Department of Imaging, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy. Diomedi Camassei F; Department of Laboratories, Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy. De Palma L; Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy. De Benedictis A; Neurosurgery Unit, Department of Neuroscience and Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy. Ferretti E; Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy. Catanzaro G; Department of Experimental Medicine, Sapienza University, 00161 Rome, Italy. Pò A; Department of Molecular Medicine, Sapienza University, 00161 Rome, Italy. De Luca A; Medical Genetics Division, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71043 San Giovanni Rotondo, Italy. Rinelli M; Laboratory of Medical Genetics, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy. LepriFR; Laboratory of Medical Genetics, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy. Agolini E; Laboratory of Medical Genetics, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy. Tartaglia M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy. Locatelli F; Department of Paediatric Haematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Department of Pediatric Hematology and Oncology Cell and Gene Therapy, Bambino Gesù Hospital, IRCCS, University La Sapienza, 00165 Rome, Italy. Mastronuzzi A; Department of Paediatric Haematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation.
Autorzy:
Ponzi E; Division of Metabolism, Department of Pediatrics Specialties, Bambino Gesù Children's Hospital, Rome, Italy. Alesi V; Medical Genetics Unit, Medical Genetics Laboratory, Bambino Gesù Children's Hospital, Rome, Italy. LepriFR; Medical Genetics Unit, Medical Genetics Laboratory, Bambino Gesù Children's Hospital, Rome, Italy. Genovese S; Medical Genetics Unit, Medical Genetics Laboratory, Bambino Gesù Children's Hospital, Rome, Italy. Loddo S; Medical Genetics Unit, Medical Genetics Laboratory, Bambino Gesù Children's Hospital, Rome, Italy. Mucciolo M; Medical Genetics Unit, Medical Genetics Laboratory, Bambino Gesù Children's Hospital, Rome, Italy. Novelli A; Medical Genetics Unit, Medical Genetics Laboratory, Bambino Gesù Children's Hospital, Rome, Italy. Dionisi-Vici C; Division of Metabolism, Department of Pediatrics Specialties, Bambino Gesù Children's Hospital, Rome, Italy. Maiorana A; Division of Metabolism, Department of Pediatrics Specialties, Bambino Gesù Children's Hospital, Rome, Italy.
Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary.
Autorzy:
Penta L; Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Piazza Lucio Severi 1, 06132 Perugia, Italy. . Bizzarri C; Unit of Endocrinology and Diabetes, IRCCS Bambino Gesù Children's Hospital, Piazza Sant'Onofrio 4, 00165 Rome, Italy. . Panichi M; Unit of Pediatrics, Città di Castello Hospital, Via L. Angelini, 10, 06012 Città di Castello, Italy. . Novelli A; Laboratory of Medical Genetics, IRCCS Bambino Gesù Children Hospital and Research Institute, Piazza Sant'Onofrio 4, 00165 Rome, Italy. . LepriFR; Laboratory of Medical Genetics, IRCCS Bambino Gesù Children Hospital and Research Institute, Piazza Sant'Onofrio 4, 00165 Rome, Italy. francescaromana.lepri@opbg.net. Cappa M; Unit of Endocrinology and Diabetes, IRCCS Bambino Gesù Children's Hospital, Piazza Sant'Onofrio 4, 00165 Rome, Italy. . Esposito S; Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Piazza Lucio Severi 1, 06132 Perugia, Italy. .
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
Autorzy:
LepriFR; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy. francescaromana.lepri@opbg.net. Cocciadiferro D; Division of Medical Genetics, IRCSS Casa Sollievo della Sofferenza Hospital, viale Cappuccini, 71013 San Giovanni Rotondo, Italy. .; PhD Program in Experimental and Regenerative Medicine, Faculty of Medicine, University of Foggia, 71122 Foggia, Italy. . Augello B; Division of Medical Genetics, IRCSS Casa Sollievo della Sofferenza Hospital, viale Cappuccini, 71013 San Giovanni Rotondo, Italy. . Alfieri P; Department of Neurosciences, Child Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy. . Pes V; Child Neuropsychiatry Unit, Department of Clinical and Experimental Medicine, University of Sassari, 07100 Sassari, Italy. . Vancini A; Neonatal Intensive Care Unit, Maggiore Hospital, 40133 Bologna, Italy. . Caciolo C; Department of Neurosciences, Child Neuropsychiatry Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy. . Squeo GM; Division of Medical Genetics, IRCSS Casa Sollievo della Sofferenza Hospital, viale Cappuccini, 71013 San Giovanni Rotondo, Italy. . Malerba N; Division of Medical Genetics, IRCSS Casa Sollievo della Sofferenza Hospital, viale Cappuccini, 71013 San Giovanni Rotondo, Italy. .; PhD Program in Experimental and Regenerative Medicine, Faculty of Medicine, University of Foggia, 71122 Foggia, Italy. . Adipietro I; Division of Medical Genetics, IRCSS Casa Sollievo della Sofferenza Hospital, viale Cappuccini, 71013 San Giovanni Rotondo, Italy. . Novelli A; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy. . Sotgiu S; Child Neuropsychiatry Unit, Department of Clinical and Experimental Medicine, University of Sassari, 07100 Sassari, Italy. . Gherardi R; Child Neuropsychiatry Unit, UO Casalecchio Porretta Bologna District, 40124 Bologna, Italy. . Digilio MC; Medical Genetic Unit, Bambino Gesù Children's, IRCCS, 00165 Rome, Italy. . Dallapiccola B; Scientific Directorate, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy. . Merla G; Division of Medical Genetics, IRCSS Casa Sollievo della Sofferenza Hospital, viale Cappuccini, 71013 San Giovanni Rotondo, Italy. .
Spinal ependymoma in a patient with Kabuki syndrome: a case report.
Autorzy:
Roma D; University Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS - 'Tor Vergata' University, Rome, Italy. . Palma P; Department of Neuroscience and Neurorehabilitation, Neurosurgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. . Capolino R; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. . Figà-Talamanca L; Department of Radiology, Unit of Neuroradiology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. . Diomedi-Camassei F; Department of Anatomical Pathology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. . LepriFR; Cytogenetics and Molecular Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. francescaromana.lepri@opbg.net. Digilio MC; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. . Marras CE; Department of Neuroscience and Neurorehabilitation, Neurosurgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. . Messina R; Department of Neuroscience and Neurorehabilitation, Neurosurgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. . Carai A; Department of Neuroscience and Neurorehabilitation, Neurosurgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. . Randi F; Department of Neuroscience and Neurorehabilitation, Neurosurgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. . Mastronuzzi A; Department of Hematology/Oncology and Stem Cell Transplantation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. .
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Źródło:
BMC medical genetics [BMC Med Genet] 2015 Sep 05; Vol. 16, pp. 80. Date of Electronic Publication: 2015 Sep 05.
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