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Wyświetlanie 1-20 z 1782
Tytuł:
Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature.
Autorzy:
Elefante P; Department of Medicine, Surgery, and Health Sciences, University of Trieste, Via dell'Istria 65/1, Trieste, 34137, Italy. .
Spedicati B; Department of Medicine, Surgery, and Health Sciences, University of Trieste, Via dell'Istria 65/1, Trieste, 34137, Italy.
Faletra F; Medical Genetics, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
Pignata L; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy.
Cerrato F; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy.
Riccio A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy.; Institute of Genetics and Biophysics (IGB) 'Adriano Buzzati-Traverso', Consiglio Nazionale delle Ricerche (CNR), Naples, Italy.
Barbi E; Department of Medicine, Surgery, and Health Sciences, University of Trieste, Via dell'Istria 65/1, Trieste, 34137, Italy.; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
Memo L; Clinical Genetics, Department of Pediatrics, Ospedale San Bortolo, Vicenza, Italy.
Travan L; Neonatal Intensive Care Unit, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
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Źródło:
Italian journal of pediatrics [Ital J Pediatr] 2023 Sep 25; Vol. 49 (1), pp. 127. Date of Electronic Publication: 2023 Sep 25.
Typ publikacji:
Review; Case Reports; Journal Article
MeSH Terms:
Beckwith-Wiedemann Syndrome*/diagnosis
Beckwith-Wiedemann Syndrome*/genetics
Beckwith-Wiedemann Syndrome*/therapy
Female ; Child ; Pregnancy ; Humans ; Genotype ; Phenotype ; Siblings ; Twins
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Co-Occurrence of Beckwith-Wiedemann Syndrome and Early-Onset Colorectal Cancer.
Autorzy:
Cecere F; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', 81100 Caserta, Italy.
Pignata L; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', 81100 Caserta, Italy.
Hay Mele B; Department of Biology, Università degli Studi di Napoli 'Federico II', 80126 Napoli, Italy.
Saadat A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', 81100 Caserta, Italy.
D'Angelo E; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', 81100 Caserta, Italy.
Palumbo O; Division of Medical Genetics, Fondazione IRCCS 'Casa Sollievo della Sofferenza', 71013 San Giovanni Rotondo, Italy.
Palumbo P; Division of Medical Genetics, Fondazione IRCCS 'Casa Sollievo della Sofferenza', 71013 San Giovanni Rotondo, Italy.
Carella M; Division of Medical Genetics, Fondazione IRCCS 'Casa Sollievo della Sofferenza', 71013 San Giovanni Rotondo, Italy.
Scarano G; Medical Genetics Unit, Azienda Ospedaliera 'San Pio' P.'Gaetano Rummo', 82100 Benevento, Italy.
Rossi GB; Istituto Nazionale Tumori, IRCCS Fondazione G. Pascale, 80131 Napoli, Italy.
Angelini C; Istituto per le Applicazioni del Calcolo (IAC) 'Mauro Picone', Consiglio Nazionale delle Ricerche (CNR), 80131 Napoli, Italy.
Sparago A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', 81100 Caserta, Italy.
Cerrato F; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', 81100 Caserta, Italy.
Riccio A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', 81100 Caserta, Italy.; Institute of Genetics and e Biophysics (IGB) 'Adriano Buzzati-Traverso', Consiglio Nazionale delle Ricerche (CNR), 80131 Napoli, Italy.
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Źródło:
Cancers [Cancers (Basel)] 2023 Mar 23; Vol. 15 (7). Date of Electronic Publication: 2023 Mar 23.
Typ publikacji:
Journal Article
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
Autorzy:
Pignata L; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy.
Cecere F; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy.; Institute of Genetics and Biophysics (IGB), 'Adriano Buzzati-Traverso', Consiglio Nazionale Delle Ricerche (CNR), Naples, Italy.
Verma A; Institute of Genetics and Biophysics (IGB), 'Adriano Buzzati-Traverso', Consiglio Nazionale Delle Ricerche (CNR), Naples, Italy.
Hay Mele B; Department of Biology, Università Degli Studi Di Napoli 'Federico II', Naples, Italy.
Monticelli M; Department of Biology, Università Degli Studi Di Napoli 'Federico II', Naples, Italy.
Acurzio B; Institute of Genetics and Biophysics (IGB), 'Adriano Buzzati-Traverso', Consiglio Nazionale Delle Ricerche (CNR), Naples, Italy.
Giaccari C; Institute of Genetics and Biophysics (IGB), 'Adriano Buzzati-Traverso', Consiglio Nazionale Delle Ricerche (CNR), Naples, Italy.
Sparago A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy.
Hernandez Mora JR; Cancer Epigenetic and Biology Program (PEBC), Imprinting and Cancer Group, Institut d'Investigació Biomedica de Bellvitge (IDIBELL), Avinguda Granvia, L'Hospitalet de Llobregat, Barcelona, Spain.
Monteagudo-Sánchez A; Cancer Epigenetic and Biology Program (PEBC), Imprinting and Cancer Group, Institut d'Investigació Biomedica de Bellvitge (IDIBELL), Avinguda Granvia, L'Hospitalet de Llobregat, Barcelona, Spain.
Esteller M; Josep Carreras Leukeamia Research Institute, Can Ruti, Cami de les Escoles, Badalona, Barcelona, Spain.; Centro de Investigacion Biomedica en Red Cancer (CIBERONC), Madrid, Spain.; Institucio Catalana de Recerca I Estudis Avançats (ICREA), Barcelona, Catalonia, Spain.; Physiological Sciences Department, School of Medicine and Health Sciences, University of Barcelona (UB), Barcelona, Catalonia, Spain.
Pereda A; Molecular (Epi)Genetics Laboratory, Rare Diseases Research Group, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, C/Jose Atxotegi s/n, 01009, Vitoria-Gasteiz, Spain.
Tenorio-Castano J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; Institute of Medical and Molecular Genetics, INGEMM-Idipaz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium.
Palumbo O; Division of Medical Genetics, Fondazione IRCCS 'Casa Sollievo Della Sofferenza', 71013, San Giovanni Rotondo, FG, Italy.
Carella M; Division of Medical Genetics, Fondazione IRCCS 'Casa Sollievo Della Sofferenza', 71013, San Giovanni Rotondo, FG, Italy.
Prontera P; Medical Genetics Unit, University and Hospital of Perugia, Perugia, Italy.
Piscopo C; Medical and Laboratory Genetics Unit, 'Antonio Cardarelli' Hospital, 80131, Naples, Italy.
Accadia M; Medical Genetics Service, Hospital 'Cardinale G. Panico', 73039, Tricase, Lecce, Italy.
Lapunzina P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; Institute of Medical and Molecular Genetics, INGEMM-Idipaz, Madrid, Spain.; ITHACA, European Reference Network, Brussels, Belgium.
Cubellis MV; Department of Biology, Università Degli Studi Di Napoli 'Federico II', Naples, Italy.
de Nanclares GP; Molecular (Epi)Genetics Laboratory, Rare Diseases Research Group, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, C/Jose Atxotegi s/n, 01009, Vitoria-Gasteiz, Spain.
Monk D; Cancer Epigenetic and Biology Program (PEBC), Imprinting and Cancer Group, Institut d'Investigació Biomedica de Bellvitge (IDIBELL), Avinguda Granvia, L'Hospitalet de Llobregat, Barcelona, Spain.; School of Biological Sciences, University of East Anglia, Norwich, NR4 7TG, UK.
Riccio A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy. .; Institute of Genetics and Biophysics (IGB), 'Adriano Buzzati-Traverso', Consiglio Nazionale Delle Ricerche (CNR), Naples, Italy. .
Cerrato F; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università Degli Studi Della Campania 'Luigi Vanvitelli', Caserta, Italy. flavia.cerrato@unicampania.it.
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Źródło:
Clinical epigenetics [Clin Epigenetics] 2022 May 28; Vol. 14 (1), pp. 71. Date of Electronic Publication: 2022 May 28.
Typ publikacji:
Journal Article
MeSH Terms:
Beckwith-Wiedemann Syndrome*/diagnosis
Beckwith-Wiedemann Syndrome*/genetics
Pseudohypoparathyroidism*/genetics
DNA Methylation ; Genomic Imprinting ; Humans ; Proteins/genetics ; Pseudohypoparathyroidism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Clinically used selective oestrogen receptor modulators increase LDL receptor activity in primary human lymphocytes.
Autorzy:
Cerrato, F
Fernández ‐ Suárez, M E
Alonso, R
Alonso, M
Vázquez, C
Pastor, O
Mata, P
Lasunción, M A
Gómez ‐ Coronado, D
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Źródło:
British Journal of Pharmacology. Mar2015, Vol. 172 Issue 5, p1379-1394. 16p. 1 Color Photograph, 1 Chart, 7 Graphs.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Zfp57 inactivation illustrates the role of ICR methylation in imprinted gene expression during neural differentiation of mouse ESCs.
Autorzy:
Acurzio B; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', 81100, Caserta, Italy.; Institute of Genetics and Biophysics (IGB), Adriano Buzzati-Traverso', Consiglio Nazionale delle Ricerche (CNR), 80131, Naples, Italy.
Verma A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', 81100, Caserta, Italy.; Institute of Genetics and Biophysics (IGB), Adriano Buzzati-Traverso', Consiglio Nazionale delle Ricerche (CNR), 80131, Naples, Italy.
Polito A; Institute of Genetics and Biophysics (IGB), Adriano Buzzati-Traverso', Consiglio Nazionale delle Ricerche (CNR), 80131, Naples, Italy.; Department of Biology, Università degli Studi di Napoli 'Federico II', 80126, Napoli, Italy.; Department of Neuroscience and Brain Technologies, Istituto Italiano di Tecnologia, 16163, Genova, Italy.
Giaccari C; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', 81100, Caserta, Italy.; Institute of Genetics and Biophysics (IGB), Adriano Buzzati-Traverso', Consiglio Nazionale delle Ricerche (CNR), 80131, Naples, Italy.
Cecere F; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', 81100, Caserta, Italy.; Institute of Genetics and Biophysics (IGB), Adriano Buzzati-Traverso', Consiglio Nazionale delle Ricerche (CNR), 80131, Naples, Italy.
Fioriniello S; Institute of Genetics and Biophysics (IGB), Adriano Buzzati-Traverso', Consiglio Nazionale delle Ricerche (CNR), 80131, Naples, Italy.
Della Ragione F; Institute of Genetics and Biophysics (IGB), Adriano Buzzati-Traverso', Consiglio Nazionale delle Ricerche (CNR), 80131, Naples, Italy.
Fico A; Institute of Genetics and Biophysics (IGB), Adriano Buzzati-Traverso', Consiglio Nazionale delle Ricerche (CNR), 80131, Naples, Italy.
Cerrato F; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', 81100, Caserta, Italy.
Angelini C; Institute for Applied Mathematics (IAC) 'Mauro Picone', Consiglio Nazionale delle Ricerche (CNR), 80131, Naples, Italy.
Feil R; Institute of Molecular Genetics of Montpellier (IGMM), Centre National de Recherche Scientifique (CNRS), 34293, Montpellier, France.; University of Montpellier, 34090, Montpellier, France.
Riccio A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', 81100, Caserta, Italy. .; Institute of Genetics and Biophysics (IGB), Adriano Buzzati-Traverso', Consiglio Nazionale delle Ricerche (CNR), 80131, Naples, Italy. .
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Źródło:
Scientific reports [Sci Rep] 2021 Jul 05; Vol. 11 (1), pp. 13802. Date of Electronic Publication: 2021 Jul 05.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Methylation/*genetics
Genomic Imprinting/*genetics
Mouse Embryonic Stem Cells/*metabolism
Repressor Proteins/*genetics
Animals ; Cell Differentiation/genetics ; Chromosomes/genetics ; Gene Expression Regulation, Developmental/genetics ; Mice ; Neural Stem Cells/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Phylogenetic analysis of SARS-CoV-2 in Boston highlights the impact of superspreading events.
Autorzy:
Lemieux JE; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA. .; Division of Infectious Diseases, Massachusetts General Hospital, Boston, MA, USA.
Siddle KJ; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.; Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA.
Shaw BM; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.; Division of Infectious Diseases, Massachusetts General Hospital, Boston, MA, USA.
Loreth C; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.
Schaffner SF; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.; Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA.; Department of Immunology and Infectious Diseases, Harvard T. H. Chan School of Public Health, Harvard University, Boston, MA, USA.
Gladden-Young A; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.
Adams G; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.
Fink T; Massachusetts Department of Public Health, Boston, MA, USA.
Tomkins-Tinch CH; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.; Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA.
Krasilnikova LA; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.; Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA.
DeRuff KC; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.
Rudy M; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.
Bauer MR; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.; Harvard Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA 02115, USA.
Lagerborg KA; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.; Harvard Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA 02115, USA.
Normandin E; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA, USA.
Chapman SB; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.
Reilly SK; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.; Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA.
Anahtar MN; Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.
Lin AE; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.; Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA.
Carter A; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.
Myhrvold C; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.; Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA.
Kemball ME; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA, USA.
Chaluvadi S; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.
Cusick C; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.
Flowers K; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.
Neumann A; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.
Cerrato F; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.
Farhat M; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Division of Pulmonary and Critical Care, Massachusetts General Hospital, Boston, MA, USA.
Slater D; Division of Infectious Diseases, Massachusetts General Hospital, Boston, MA, USA.
Harris JB; Division of Infectious Diseases, Massachusetts General Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
Branda JA; Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.
Hooper D; Division of Infectious Diseases, Massachusetts General Hospital, Boston, MA, USA.
Gaeta JM; Institute for Research, Quality, and Policy in Homeless Health Care, Boston Health Care for the Homeless Program, Boston, MA, USA.; Section of General Internal Medicine, Boston University Medical Center, Boston, MA, USA.
Baggett TP; Institute for Research, Quality, and Policy in Homeless Health Care, Boston Health Care for the Homeless Program, Boston, MA, USA.; Division of General Internal Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.
O'Connell J; Institute for Research, Quality, and Policy in Homeless Health Care, Boston Health Care for the Homeless Program, Boston, MA, USA.; Division of General Internal Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.
Gnirke A; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.
Lieberman TD; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.; Institute for Medical Engineering and Sciences, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
Philippakis A; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.
Burns M; Massachusetts Department of Public Health, Boston, MA, USA.
Brown CM; Massachusetts Department of Public Health, Boston, MA, USA.
Luban J; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.; Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, MA 01605, USA.; Massachusetts Consortium on Pathogen Readiness, Boston, MA 02115, USA.
Ryan ET; Division of Infectious Diseases, Massachusetts General Hospital, Boston, MA, USA.; Department of Immunology and Infectious Diseases, Harvard T. H. Chan School of Public Health, Harvard University, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.
Turbett SE; Division of Infectious Diseases, Massachusetts General Hospital, Boston, MA, USA.; Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.
LaRocque RC; Division of Infectious Diseases, Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.
Hanage WP; Center for Communicable Disease Dynamics, Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, MA 02115, USA.
Gallagher GR; Massachusetts Department of Public Health, Boston, MA, USA.
Madoff LC; Massachusetts Department of Public Health, Boston, MA, USA.; University of Massachusetts Medical School, Infectious Diseases and Immunology, Worcester, MA 01655, USA.
Smole S; Massachusetts Department of Public Health, Boston, MA, USA.
Pierce VM; Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.; Pediatric Infectious Disease Unit, Massachusetts General Hospital for Children, Boston, MA, USA.; Department of Pathology, Harvard Medical School, Boston, MA, USA.
Rosenberg E; Division of Infectious Diseases, Massachusetts General Hospital, Boston, MA, USA.; Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.
Sabeti PC; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA. .; Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA.; Department of Immunology and Infectious Diseases, Harvard T. H. Chan School of Public Health, Harvard University, Boston, MA, USA.; Massachusetts Consortium on Pathogen Readiness, Boston, MA 02115, USA.; Howard Hughes Medical Institute, 4000 Jones Bridge Rd, Chevy Chase, MD 20815, USA.
Park DJ; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA.
MacInnis BL; Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, MA 02142, USA. .; Department of Immunology and Infectious Diseases, Harvard T. H. Chan School of Public Health, Harvard University, Boston, MA, USA.; Massachusetts Consortium on Pathogen Readiness, Boston, MA 02115, USA.
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Źródło:
Science (New York, N.Y.) [Science] 2021 Feb 05; Vol. 371 (6529). Date of Electronic Publication: 2020 Dec 10.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Genome, Viral*
Phylogeny*
COVID-19/*epidemiology
SARS-CoV-2/*genetics
Boston/epidemiology ; COVID-19/transmission ; Disease Outbreaks ; Epidemiological Monitoring ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Both Epimutations and Chromosome Aberrations Affect Multiple Imprinted Loci in Aggressive Wilms Tumors.
Autorzy:
Pignata L; Department of Environmental Biological and Pharmaceutical Sciences and Technologies, University of Campania 'Luigi Vanvitelli', 81100 Caserta, Italy.; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso' CNR, 80131-Napoli, Italy.
Palumbo O; Division of Medical Genetics, Fondazione IRCCS 'Casa Sollievo della Sofferenza', 71013 San Giovanni Rotondo (FG), Italy.
Cerrato F; Department of Environmental Biological and Pharmaceutical Sciences and Technologies, University of Campania 'Luigi Vanvitelli', 81100 Caserta, Italy.
Acurzio B; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso' CNR, 80131-Napoli, Italy.
de Álava E; Department of Pathology, Institute of Biomedicine of Sevilla (IBiS), Virgen del Rocio University Hospital/CSIC/University of Sevilla/CIBERONC, 41013 Seville, Spain.; Department of Normal and Pathological Cytology and Histology, School of Medicine, University of Seville, 08035 Seville, Spain.
Roma J; Group of Translational Research in Child and Adolescent Cancer, Vall d'Hebron Research Institute-Universitat Autònoma de Barcelona, 08193 Barcelona, Spain.
Gallego S; Group of Translational Research in Child and Adolescent Cancer, Vall d'Hebron Research Institute-Universitat Autònoma de Barcelona, 08193 Barcelona, Spain.
Mora J; Pediatric Cancer Center Barcelona (PCCB), Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain.
Carella M; Division of Medical Genetics, Fondazione IRCCS 'Casa Sollievo della Sofferenza', 71013 San Giovanni Rotondo (FG), Italy.
Riccio A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies, University of Campania 'Luigi Vanvitelli', 81100 Caserta, Italy.; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso' CNR, 80131-Napoli, Italy.
Verde G; Department of Environmental Biological and Pharmaceutical Sciences and Technologies, University of Campania 'Luigi Vanvitelli', 81100 Caserta, Italy.; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso' CNR, 80131-Napoli, Italy.
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Źródło:
Cancers [Cancers (Basel)] 2020 Nov 18; Vol. 12 (11). Date of Electronic Publication: 2020 Nov 18.
Typ publikacji:
Journal Article
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.
Autorzy:
Cubellis MV; Department of Biology, Università degli Studi di Napoli 'Federico II', Napoli, Italy.
Pignata L; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy.
Verma A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy.; Institute of Genetics and Biophysics (IGB) 'Adriano Buzzati-Traverso', Consiglio Nazionale delle Ricerche (CNR), Naples, Italy.
Sparago A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy.
Del Prete R; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy.
Monticelli M; Department of Biology, Università degli Studi di Napoli 'Federico II', Napoli, Italy.
Calzari L; Medical Cytogenetics and Molecular Genetics Laboratory, Centro di Ricerche e Tecnologie Biomediche IRCCS, Istituto Auxologico Italiano, Milan, Italy.
Antona V; Department of Sciences for Health Promotion and Mother and Child Care 'G. D'Alessandro', University of Palermo, Palermo, Italy.
Melis D; Medical, Surgical, and Dental Department, Università degli Studi di Salerno, Salerno, Italy.
Tenconi R; Department of Pediatrics, Clinical Genetics, Università di Padova, Padova, Italy.
Russo S; Medical Cytogenetics and Molecular Genetics Laboratory, Centro di Ricerche e Tecnologie Biomediche IRCCS, Istituto Auxologico Italiano, Milan, Italy.
Cerrato F; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy. flavia.cerrato@unicampania.it.
Riccio A; Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania 'Luigi Vanvitelli', Caserta, Italy. .; Institute of Genetics and Biophysics (IGB) 'Adriano Buzzati-Traverso', Consiglio Nazionale delle Ricerche (CNR), Naples, Italy. .
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Źródło:
Clinical epigenetics [Clin Epigenetics] 2020 Sep 14; Vol. 12 (1), pp. 139. Date of Electronic Publication: 2020 Sep 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Beckwith-Wiedemann Syndrome/*genetics
DNA Methylation/*genetics
Maternal Inheritance/*genetics
Protein-Arginine Deiminase Type 6/*genetics
Adolescent ; Adult ; Beckwith-Wiedemann Syndrome/diagnosis ; Child, Preschool ; Female ; Genomic Imprinting/genetics ; Heterozygote ; Humans ; Hydatidiform Mole/epidemiology ; Hydatidiform Mole/genetics ; Infant ; Infertility, Female/epidemiology ; Infertility, Female/genetics ; Male ; Mutation ; Oocytes/metabolism ; Pedigree ; Phenotype ; Pregnancy ; Siblings ; Exome Sequencing/methods
Czasopismo naukowe
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Tytuł:
Causes of Childhood Cancer: A Review of the Recent Literature: Part I—Childhood Factors.
Autorzy:
Ricci, Angela M. (AUTHOR)
Emeny, Rebecca T. (AUTHOR)
Bagley, Pamela J. (AUTHOR)
Blunt, Heather B. (AUTHOR)
Butow, Mary E. (AUTHOR)
Morgan, Alexandra (AUTHOR)
Alford-Teaster, Jennifer A. (AUTHOR)
Titus, Linda (AUTHOR)
Walston III, Raymond R. (AUTHOR)
Rees, Judy R. (AUTHOR)
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Źródło:
Cancers. Apr2024, Vol. 16 Issue 7, p1297. 16p.
Czasopismo naukowe
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Tytuł:
Endothelial gene regulatory elements associated with cardiopharyngeal lineage differentiation.
Autorzy:
Aurigemma, Ilaria (AUTHOR)
Lanzetta, Olga (AUTHOR)
Cirino, Andrea (AUTHOR)
Allegretti, Sara (AUTHOR)
Lania, Gabriella (AUTHOR)
Ferrentino, Rosa (AUTHOR)
Poondi Krishnan, Varsha (AUTHOR)
Angelini, Claudia (AUTHOR)
Illingworth, Elizabeth (AUTHOR)
Baldini, Antonio (AUTHOR)
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Źródło:
Communications Biology. 3/21/2024, Vol. 7 Issue 1, p1-16. 16p.
Czasopismo naukowe
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Wyświetlanie 1-20 z 1782

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