Zobrazeno 1 - 10
of 9 537
pro vyhledávání: '"Noonan syndrome"'
Autor:
Hirano Y; Department of Pediatrics, Hiratsuka City Hospital, Hiratsuka, Kanagawa, Japan.; Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Yokohama, Japan., Kuroda Y; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan., Enomoto Y; Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan., Naruto T; Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan., Muroya K; Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Yokohama, Japan., Kurosawa K; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep; Vol. 194 (9), pp. e63652. Date of Electronic Publication: 2024 May 14.
Autor:
Samuels M; McGovern Medical School, UTHealth, Houston, Texas, USA., Northrup H; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, UTHealth, Houston, Texas, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63776. Date of Electronic Publication: 2024 Jun 07.
Autor:
Arrabito M; Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, 95100 Catania, Italy.; Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy., Li Volsi N; Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, 95100 Catania, Italy.; School of Medical Genetics, University of Catania, 95100 Catania, Italy., La Rosa M; Cytogenetic-Cytofluorimetric-Molecular Biology Lab, Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, Via Santa Sofia 78, 95123 Catania, Italy., Samperi P; Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, 95100 Catania, Italy., Pulvirenti G; School of Pediatrics, University of Catania, 95100 Catania, Italy., Cannata E; Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, 95100 Catania, Italy.; Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy., Russo G; Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, 95100 Catania, Italy.; Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy.; School of Pediatrics, University of Catania, 95100 Catania, Italy., Di Cataldo A; Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, 95100 Catania, Italy.; Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy.; School of Pediatrics, University of Catania, 95100 Catania, Italy., Lo Nigro L; Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, 95100 Catania, Italy.; Cytogenetic-Cytofluorimetric-Molecular Biology Lab, Center of Pediatric Hematology Oncology, Azienda Policlinico di Catania, Via Santa Sofia 78, 95123 Catania, Italy.
Publikováno v:
Genes [Genes (Basel)] 2024 Sep 10; Vol. 15 (9). Date of Electronic Publication: 2024 Sep 10.
Autor:
McGhee CA; Department of Psychiatry & Behavioral Sciences, Stanford University, Stanford, California. Electronic address: camcghee@stanford.edu., Honari H; Department of Psychiatry & Behavioral Sciences, Stanford University, Stanford, California., Siqueiros-Sanchez M; Department of Psychiatry & Behavioral Sciences, Stanford University, Stanford, California., Serur Y; Department of Psychiatry & Behavioral Sciences, Stanford University, Stanford, California., van Staalduinen EK; Department of Psychiatry & Behavioral Sciences, Stanford University, Stanford, California., Stevenson D; Division of Medical Genetics, Stanford University, Stanford, California., Bruno JL; Department of Psychiatry & Behavioral Sciences, Stanford University, Stanford, California., Raman MM; Department of Psychiatry & Behavioral Sciences, Stanford University, Stanford, California., Green T; Department of Psychiatry & Behavioral Sciences, Stanford University, Stanford, California.
Publikováno v:
Biological psychiatry. Cognitive neuroscience and neuroimaging [Biol Psychiatry Cogn Neurosci Neuroimaging] 2024 Sep; Vol. 9 (9), pp. 858-870. Date of Electronic Publication: 2024 Apr 15.
Autor:
Faienza MF; Pediatric Unit, Department of Precision and Regenerative Medicine and Ionian Area, University of Bari 'Aldo Moro', 70124 Bari, Italy., Meliota G; Department of Pediatric Cardiology, Giovanni XXIII Pediatric Hospital, 70126 Bari, Italy., Mentino D; Pediatric Unit, Department of Precision and Regenerative Medicine and Ionian Area, University of Bari 'Aldo Moro', 70124 Bari, Italy., Ficarella R; U.O.C. Laboratorio di Genetica Medica, PO Di Venere-ASL Bari, 70012 Bari, Italy., Gentile M; U.O.C. Laboratorio di Genetica Medica, PO Di Venere-ASL Bari, 70012 Bari, Italy., Vairo U; Department of Pediatric Cardiology, Giovanni XXIII Pediatric Hospital, 70126 Bari, Italy., D'amato G; Neonatal Intensive Care Unit, Di Venere Hospital, 70012 Bari, Italy.
Publikováno v:
Genes [Genes (Basel)] 2024 Aug 02; Vol. 15 (8). Date of Electronic Publication: 2024 Aug 02.
Autor:
Aidar MN; Department of Ophthalmology, Otorhinolaryngology and Head and Neck Surgery, University of São Paulo, School of Medicine of Ribeirão Preto, São Paulo, Brazil., Andrade MEA, Cruz AA
Publikováno v:
Ophthalmic plastic and reconstructive surgery [Ophthalmic Plast Reconstr Surg] 2024 Sep-Oct 01; Vol. 40 (5), pp. e193. Date of Electronic Publication: 2024 Apr 29.
Autor:
Kuo O; Department of Dermatology, Worcestershire Acute Hospitals NHS Trust, Worcester, UK., Molloy K; Department of Dermatology, Worcestershire Acute Hospitals NHS Trust, Worcester, UK., Sabir A; Department of Clinical Genetics, Birmingham Women's Hospital, Birmingham, UK.; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK., Fleming A; Department of Clinical Genetics and Genomics, Royal Brompton Hospital, London, UK., Edwards M; Department of Clinical Genetics and Genomics, Royal Brompton Hospital, London, UK., Morris-Rosendahl D; Department of Clinical Genetics and Genomics, Royal Brompton Hospital, London, UK., Fassihi H; Photodermatology Unit, St John's Institute of Dermatology, Guy's and St Thomas' NHS Trust, London, UK., Preston P; Department of Dermatology, Worcestershire Acute Hospitals NHS Trust, Worcester, UK.
Publikováno v:
Clinical and experimental dermatology [Clin Exp Dermatol] 2024 Aug 22; Vol. 49 (9), pp. 1101-1103.
Autor:
Dentici ML; Rare Diseases and Medical Genetics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Niceta M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Lepri FR; Translational Cytogenomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Mancini C; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Priolo M; Medical and Molecular Genetics, Ospedale Cardarelli, 80131, Naples, Italy., Bonnard AA; Service de de Génétique Moléculaire Hôpital Robert Debré, GHU AP-HP Nord - Université Paris Cité, INSERM UMR_S1131, Institut Universitaire d'Hématologie, Université Paris Cité, Paris-Cité, 75019, Paris, France., Cappelletti C; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.; Department of Biomedicine and Prevention, Università di Roma 'Tor Vergata', 00133, Rome, Italy., Leoni C; Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Rome, Italy.; Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168, Rome, Italy., Ciolfi A; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Pizzi S; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Cordeddu V; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161, Rome, Italy., Rossi C; Medical Genetics, IRCSS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy., Ferilli M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Mucciolo M; Translational Cytogenomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Colona VL; Rare Diseases and Medical Genetics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Fauth C; Institute for Human Genetics, Medical University Innsbruck, 6020, Innsbruck, Austria., Bellini M; Pediatrics and Neonatology, Gugliemo da Saliceto Hospital, 29121, Piacenza, Italy., Biasucci G; Pediatrics and Neonatology, Gugliemo da Saliceto Hospital, 29121, Piacenza, Italy., Sinibaldi L; Rare Diseases and Medical Genetics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Briuglia S; Genetics and Pharmacogenetics, Ospedale Universitario 'Gaetano Martino', 98125, Messina, Italy., Gazzin A; Pediatric Clinical Genetics, Ospedale Pediatrico 'Regina Margherita', 10126, Torino, Italy., Carli D; Department of Medical Sciences, Università of Torino, 10126, Torino, Italy., Memo L; Medical Genetics, Institute for Maternal and Child Health-IRCCS, Burlo Garofolo, 34127, Trieste, Italy., Trevisson E; Department of Women's and Children's Health, Università di Padova, 35128, Padova, Italy., Schiavariello C; Department of Pediatrics, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy., Luca M; Department of Medical Sciences, Università of Torino, 10126, Torino, Italy., Novelli A; Translational Cytogenomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Michot C; Center for Skeletal Dysplasia, Necker-Enfants Malades Hospital, Paris Cité University, INSERM UMR 1163, Imagine Institute, 75015, Paris, France., Sweertvaegher A; Service de Pédiatrie, Centre hospitalier de Saint-Quentin, 02321, Saint-Quentin, France., Germanaud D; Département de Génétique, CEA Paris-Saclay, NeuroSpin, Gif-sur-Yvette, France.; Service de Génétique Clinique, AP-HP, Hôpital Robert-Debré, 75019, Paris, France., Scarano E; Department of Pediatrics, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy., De Luca A; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013, San Giovanni, Rotondo, Italy., Zampino G; Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Rome, Italy.; Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168, Rome, Italy., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, 39120, Magdeburg, Germany., Mussa A; Department of Medical Sciences, Università of Torino, 10126, Torino, Italy., Dallapiccola B; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Cavé H; Service de de Génétique Moléculaire Hôpital Robert Debré, GHU AP-HP Nord - Université Paris Cité, INSERM UMR_S1131, Institut Universitaire d'Hématologie, Université Paris Cité, Paris-Cité, 75019, Paris, France., Digilio MC; Rare Diseases and Medical Genetics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy. marco.tartaglia@opbg.net.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Aug; Vol. 32 (8), pp. 954-963. Date of Electronic Publication: 2024 Jun 01.
Autor:
Gazzin A; Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center, University of Turin, Turin, Italy.; Department of Public Health and Pediatrics, University of Turin, Turin, Italy.; Clinical Pediatric Genetics Unit, Regina Margherita Children's Hospital, Turin, Italy., Fornari F; Postgraduate School of Pediatrics, University of Turin, Turin, Italy., Niceta M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital IRCCS, 00146, Rome, Italy., Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy., Dentici ML; Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Carli D; Department of Medical Sciences, University of Turin, Turin, Italy., Villar AM; Cardiology Department, Regina Margherita Children's Hospital, Turin, Italy., Calcagni G; Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Banaudi E; Cardiology Department, Regina Margherita Children's Hospital, Turin, Italy., Massuras S; Department of Public Health and Pediatrics, University of Turin, Turin, Italy., Cardaropoli S; Department of Public Health and Pediatrics, University of Turin, Turin, Italy., Airulo E; Department of Public Health and Pediatrics, University of Turin, Turin, Italy., Daniele P; Medical Genetics Unit, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Monda E; Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Naples, Italy., Limongelli G; Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Naples, Italy., Riggi C; Cardiology Department, Regina Margherita Children's Hospital, Turin, Italy., Zampino G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy., Digilio MC; Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., De Luca A; Medical Genetics Unit, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital IRCCS, 00146, Rome, Italy., Ferrero GB; Department of Clinical and Biological Sciences, University of Turin, Orbassano, Italy. giovannibattista.ferrero@unito.it., Mussa A; Department of Public Health and Pediatrics, University of Turin, Turin, Italy. alessandro.mussa@unito.it.; Clinical Pediatric Genetics Unit, Regina Margherita Children's Hospital, Turin, Italy. alessandro.mussa@unito.it.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Aug; Vol. 32 (8), pp. 964-971. Date of Electronic Publication: 2024 Jun 01.
Autor:
Draaisma F; Department of Pediatrics, Radboud Institute for Health Sciences, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands., Leenders EKSM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Erasmus CE; Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands., Braakman HMH; Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands., Burgers MCJ; Department of Pediatrics, Radboud Institute for Health Sciences, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands., Coppens CH; Department of Pediatrics, Radboud Institute for Health Sciences, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands., Rinne T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Reintjes W; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., van Engelen BGM; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., van Alfen N; Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Draaisma JMT; Department of Pediatrics, Radboud Institute for Health Sciences, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, The Netherlands.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Nov; Vol. 194 (11), pp. e63810. Date of Electronic Publication: 2024 Jul 03.