Anomalie cardiovascolari in un paziente con sospetta sindrome di Hennekam

Autor: DE BIASE, Luciano, Digilio, C., Cota, L., EGIDY ASSENZA, G., Autore, Camillo, Testa, M., Volpe, Massimo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3686::234111e89829863fccdfee7660a89542
http://hdl.handle.net/11573/205226

Molecular characterization of de novo ring chromosome 21 in a child with seizures, growth retardation, and multiple congenital anomalies.

Autor: Ambulkar, Prafulla S.¹ (AUTHOR) prafullaambulkar@mgims.ac.in, Liehr, Thomas² (AUTHOR), Jain, Manish³ (AUTHOR), Waghmare, Jwalant⁴ (AUTHOR), Gangane, Nitin^1,5,6 (AUTHOR), Narang, Pratibha^1,7 (AUTHOR), Pal, Asoke K.¹ (AUTHOR)

Publikováno v: Journal of Genetics. Dec2023, Vol. 102 Issue 2, p1-6. 6p.

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.

Autor: Cordeddu V; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161, Italy.; Dipartimento di Scienze Psicologiche, della Salute e del Territorio, Università degli Studi 'G. d'Annunzio', Chieti-Pescara, 66100, Italy., Yin JC; Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON, M5S, Canada., Gunnarsson C; Department of Clinical and Experimental Medicine, Division of Clinical Genetics, Faculty of Health Sciences, Linköping University, Linköping, 581 83, Sweden., Virtanen C; Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON, M5S, Canada., Drunat S; Département de Génétique, Hôpital Robert Debré, Paris, 75019, France., Lepri F; Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, 00165, Italy., De Luca A; IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, 00161, Italy., Rossi C; UO Genetica Medica, Policlinico S.Orsola-Malpighi, Bologna, 40138, Italy., Ciolfi A; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161, Italy., Pugh TJ; Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON, M5S, Canada., Bruselles A; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161, Italy., Priest JR; Division of Pediatric Cardiology, Stanford University School of Medicine, Stanford University, Stanford, California, 94305.; Child Health Research Institute, Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, California, 94305., Pennacchio LA; Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California, 94720.; US Department of Energy Joint Genome Institute, Walnut Creek, California, 94598., Lu Z; Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON, M5S, Canada., Danesh A; Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON, M5S, Canada., Quevedo R; Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON, M5S, Canada., Hamid A; Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON, M5S, Canada., Martinelli S; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161, Italy., Pantaleoni F; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161, Italy., Gnazzo M; Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, 00165, Italy., Daniele P; IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, 00161, Italy., Lissewski C; Institute of Human Genetics, University Hospital of Magdeburg, Otto-von-Guericke-University, Magdeburg, 39106, Germany., Bocchinfuso G; Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma 'Tor Vergata', Rome, 00133, Italy., Stella L; Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma 'Tor Vergata', Rome, 00133, Italy., Odent S; Service de Génétique Clinique, Hôpital SUD, Rennes, 35200, France., Philip N; Département de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille 13385, France., Faivre L; Centre de Génétique, Hôpital d'Enfants, Dijon, 21000, France., Vlckova M; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, 150 06, Czech Republic., Seemanova E; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, 150 06, Czech Republic., Digilio C; Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, 00165, Italy., Zenker M; Institute of Human Genetics, University Hospital of Magdeburg, Otto-von-Guericke-University, Magdeburg, 39106, Germany., Zampino G; Istituto di Pediatria, Università Cattolica del Sacro Cuore, Rome, 00168, Italy., Verloes A; Département de Génétique, Hôpital Robert Debré, Paris, 75019, France., Dallapiccola B; Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, 00165, Italy., Roberts AE; Department of Cardiology and Division of Genetics, Boston Children's Hospital, Boston, Massachusetts, 02115., Cavé H; Département de Génétique, Hôpital Robert Debré, Paris, 75019, France.; INSERM UMR_S1131, Institut Universitaire d'Hématologie, Université Paris Diderot, Paris-Sorbonne-Cité, Paris, 75205, France., Gelb BD; The Mindich Child Health and Development Institute, and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, 10029., Neel BG; Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON, M5S, Canada.; The Laura and Isaac Perlmutter Cancer Center, New York University School of Medicine, New York, New York, 10016., Tartaglia M; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161, Italy.; Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, 00165, Italy.

Publikováno v: Human mutation [Hum Mutat] 2015 Nov; Vol. 36 (11), pp. 1080-7. Date of Electronic Publication: 2015 Aug 03.

Quali-quantitative study of the social variables defining transmission scenarios of Argentine Hemorrhagic Fever in the provinces of Buenos Aires and Santa Fe, 2001-2010.

Autor: Mastrangelo A; ANLIS, CeNDIE, CONICET, Argentina., Tagliabue P; ANLIS, CeNDIE, Argentina., Berro L; Área comunicación, Universidad Nacional del Noroeste de Buenos Aires, Argentina., De Carolis D; Municipalidad de Rosario, Argentina., Sinchi A; ANLIS, INEVH, Argentina., Digilio C; ANLIS, INEVH, Argentina., Enria D; ANLIS, INEVH, Argentina.

Publikováno v: Salud colectiva [Salud Colect] 2014 Aug; Vol. 10 (2), pp. 171-84.

Dysfunctional Mitochondria in the Cardiac Fibers of a Williams–Beuren Syndrome Mouse Model.

Autor: Abdalla, Noura¹ (AUTHOR) nabdalla89@ub.edu, Tobías-Baraja, Ester^2,3,4 (AUTHOR) ggarrabou@ub.edu, Gonzalez, Alejandro¹ (AUTHOR) gegea@ub.edu, Garrabou, Gloria^2,3,4 (AUTHOR), Egea, Gustavo^1,4,5 (AUTHOR), Campuzano, Victoria^1,3,4 (AUTHOR) vcampuzanou@ub.edu

Publikováno v: International Journal of Molecular Sciences. Jun2023, Vol. 24 Issue 12, p10071. 13p.