Overexpression of H2AFX gene in neuroblastoma is associated with worse prognosis.

Autor: Ognibene M; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Parodi S; Epidemiologia e Biostatistica, Direzione Scientifica, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Amoroso L; UOC Oncologia Pediatrica, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Zara F; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Pezzolo A; IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Publikováno v: Pediatric blood & cancer [Pediatr Blood Cancer] 2024 Sep; Vol. 71 (9), pp. e31146. Date of Electronic Publication: 2024 Jun 27.

Multiple Tumors in a Patient with Interleukin-2-Inducible T-Cell Kinase Deficiency: A Case Report.

Autor: Di Filippo M; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal-Infantile Sciences, University of Genoa, 16147 Genoa, Italy., Tallone R; D.O.P.O. Clinic, Department of Pediatric Hematology and Oncology, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy., Muraca M; D.O.P.O. Clinic, Department of Pediatric Hematology and Oncology, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy., Pelanconi L; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal-Infantile Sciences, University of Genoa, 16147 Genoa, Italy., Faravelli F; Genomics and Clinical Genetics, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy., Capra V; Genomics and Clinical Genetics, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy., De Marco P; Medical Genetics Unit, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy., Ognibene M; Medical Genetics Unit, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy., Baldassari S; Medical Genetics Unit, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy., Terranova P; Hematology Unit, Department of Pediatric Hematology and Oncology, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy., Livellara V; Oncology Unit, Department of Pediatric Hematology and Oncology, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy., Vellone VG; Pathology Unit, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy.; Department of Integrated Surgical &Diagnostic Sciences (DISC), University of Genoa, 16147 Genoa, Italy., Miano M; Hematology Unit, Department of Pediatric Hematology and Oncology, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy., Amoroso L; Pediatric Oncology and Oncohematology Unit, Department of Maternal Infantile and Urological Sciences, Policlinico Umberto I, Sapienza University of Rome, 00161 Rome, Italy., Beccaria A; D.O.P.O. Clinic, Department of Pediatric Hematology and Oncology, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2024 Dec 07; Vol. 25 (23). Date of Electronic Publication: 2024 Dec 07.

E2F3 gene expression is a potential negative prognostic marker for localised and MYCN not-amplified neuroblastoma: Results of in silico analysis of 786 samples.

Autor: Ognibene M; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genova, Italy., Cangelosi D; Unità di Bioinformatica Clinica, Direzione Scientifica, IRCCS Istituto Giannina Gaslini, Genova, Italy., Sorrentino S; U.O.C. Divisione di Oncologia, IRCCS Istituto Giannina Gaslini, Genova, Italy., Zanardi S; U.O.S.I.D. Epidemiologia e Biostatistica, Direzione Scientifica, IRCCS Istituto Giannina Gaslini, Genova, Italy., Zara F; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genova, Italy., Pezzolo A; IRCCS Istituto Giannina Gaslini, Genova, Italy., Parodi S; Direzione Scientifica, IRCCS Istituto Giannina Gaslini, Genova, Italy.

Publikováno v: Pediatric blood & cancer [Pediatr Blood Cancer] 2022 Oct; Vol. 69 (10), pp. e29800. Date of Electronic Publication: 2022 Jun 02.

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.

Autor: Bosch E; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Popp B; Berlin Institute of Health at Charitè, Universitätsklinikum Berlin, Centre of Functional Genomics, Berlin, Germany; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Güse E; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Skinner C; Greenwood Genetic Center, Greenwood, SC., van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium., Pinto AM; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Renieri A; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy; Medical Genetics Unit, University of Siena, Siena, Italy., Bruno LP; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Granata S; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy; Medical Genetics Unit, University of Siena, Siena, Italy., Marcelis C; Human Genetics department, Radboud university medical center, Nijmegen, The Netherlands., Baysal Ö; Human Genetics department, Radboud university medical center, Nijmegen, The Netherlands., Hartwich D; Institute of Human Genetics - University Medical Center of the Johannes Gutenberg University Mainz, Germany., Holthöfer L; Institute of Human Genetics - University Medical Center of the Johannes Gutenberg University Mainz, Germany., Isidor B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Cogne B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany., Capra V; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., De Marco P; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Ognibene M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Carter LB; Department of Pediatrics, Division of Medical Genetics, Levine Children's Hospital, Atrium Health, Charlotte, NC., Kuismin O; Department of Clinical Genetics, Research Unit of Clinical Medicine, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Valenzuela I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Cuscó I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Martinez-Agosto JA; Departments of Human Genetics, Pediatrics, and Psychiatry, UCLA David Geffen School of Medicine, Los Angeles, CA., Rabani AM; Department of Pediatrics & Institute for Precision Health, UCLA David Geffen School of Medicine, Los Angeles, CA., Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN., Pereira EM; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY., Close C; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY., Anyane-Yeboa K; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY., Wagner M; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, University of Michigan, Ann Arbor, MI., Hannibal MC; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, University of Michigan, Ann Arbor, MI., Zacher P; Epilepsy Center Kleinwachau, Radeberg, Germany., Thiffault I; Department of Pediatrics and Pathology, Genomic Medicine Center, Children's Mercy Kansas City and Children's Mercy Research Institute, Kansas City, MO., Beunders G; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan., Bhola PT; Department of Genetics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Canada., McGinnis E; Division of Neurology, Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Millichap J; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL., van de Kamp JM; Department of Human Genetics, Amsterdam UMC, location VU Medical Center, Amsterdam, The Netherlands., Prijoles EJ; Greenwood Genetic Center, Greenwood, SC., Dobson A; Greenwood Genetic Center, Greenwood, SC., Shillington A; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH., Graham BH; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN., Garcia EJ; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN., Galindo MK; Department of Pediatrics, University of Arizona, Tucson, AZ., Ropers FG; Willem-Alexander Children's Hospital, Department of Pediatrics, Leiden University Medical Center, The Netherlands., Nibbeling EAR; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Hubbard G; Department of Medical Genetics, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, CA., Karimov C; Department of Medical Genetics, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, CA., Goj G; Vestische Kinder- und Jugendklinik, Datteln, Germany., Bend R; PreventionGenetics, Part of Exact Sciences, Marshfield, WI., Rath J; PreventionGenetics, Part of Exact Sciences, Marshfield, WI., Morrow MM; GeneDx, Gaithersburg, MD., Millan F; GeneDx, Gaithersburg, MD., Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, United Kingdom; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy., Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Kurki M; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA., Stevenson RE; Greenwood Genetic Center, Greenwood, SC., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Zweier M; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, Switzerland., Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany., Accogli A; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre; Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC, Canada., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany. Electronic address: georgia.vasileiou@uk-erlangen.de.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Nov; Vol. 25 (11), pp. 100950. Date of Electronic Publication: 2023 Aug 05.

Roniciclib down-regulates stemness and inhibits cell growth by inducing nucleolar stress in neuroblastoma.

Autor: Ognibene M; Laboratorio Cellule Staminali Post Natali e Terapie Cellulari, IRCCS Istituto Gaslini, 16147, Genova, Italy. marziaognibene@gaslini.org.; Unità di Genetica Medica, IRCCS Istituto Gaslini, 16147, Genova, Italy. marziaognibene@gaslini.org., Pezzolo A; Laboratorio Cellule Staminali Post Natali e Terapie Cellulari, IRCCS Istituto Gaslini, 16147, Genova, Italy. annalisapezzolo@gaslini.org.

Publikováno v: Scientific reports [Sci Rep] 2020 Jul 31; Vol. 10 (1), pp. 12902. Date of Electronic Publication: 2020 Jul 31.