Zobrazeno 1 - 10
of 372
pro vyhledávání: '"Caberg JH"'
Autor:
Daly AF; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Dunnington LA; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center (UTHealth Houston), Houston, TX, USA.; Memorial Hermann-Texas Medical Center, University of Texas Health Science Center at Houston, Houston, TX, USA., Rodriguez-Buritica DF; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center (UTHealth Houston), Houston, TX, USA.; Memorial Hermann-Texas Medical Center, University of Texas Health Science Center at Houston, Houston, TX, USA., Spiegel E; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, 10032, USA., Brancati F; Department of Life, Health and Environmental Sciences, University of L'Aquila, Via Spennati N.1, L'Aquila, 67010, Italy.; Human Functional Genetics Laboratory, IRCCS San Raffaele Roma, Rome, Italy., Mantovani G; Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy., Rawal VM; Austin Diagnostic Clinic, 2400 Cedar Bend Dr, Austin, TX, 78758, USA., Faucz FR; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Bethesda, MD, USA., Hijazi H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Caberg JH; Department of Human Genetics, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Nardone AM; Medical Genetics Laboratory, Policlinico Tor Vergata Hospital, Viale Oxford 81, Rome, 00133, Italy., Bengala M; Medical Genetics Laboratory, Policlinico Tor Vergata Hospital, Viale Oxford 81, Rome, 00133, Italy., Fortugno P; Human Functional Genetics Laboratory, IRCCS San Raffaele Roma, Rome, Italy.; Università Telematica San Raffaele, Rome, Italy., Del Sindaco G; Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy., Ragonese M; Department of Human Pathology of Adulthood and Childhood DETEV, Endocrinology Unit, University of Messina, 98125, Messina, Italy., Gould H; Austin Maternal Fetal Medicine, 12200 Renfert Way Ste G3, Austin, TX, 78758, USA., Cannavò S; Department of Human Pathology of Adulthood and Childhood DETEV, Endocrinology Unit, University of Messina, 98125, Messina, Italy., Pétrossians P; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Lania A; Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, Pieve Emanuele, Milan, 20072, Italy.; IRCCS Humanitas Research Hospital, Milan, Italy., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Beckers A; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Stratakis CA; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Bethesda, MD, USA.; Human Genetics and Precision Medicine, Institute of Molecular Biology and Biotechnology (IMBB), Foundation for Research and Technology Hellas, Heraklion, Greece.; ASTREA Health, Athens, Greece., Levy B; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Trivellin G; Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, Pieve Emanuele, Milan, 20072, Italy. giampaolo.trivellin@hunimed.eu.; IRCCS Humanitas Research Hospital, Milan, Italy. giampaolo.trivellin@hunimed.eu., Franke M; Andalusian Center for Developmental Biology (CABD), Junta de Andalucia - Universidad Pablo de Olavide (UPO) - Consejo Superior de Investigaciones Cientificas (CSIC), Seville, Spain. mfra2@upo.es.
Publikováno v:
Genome medicine [Genome Med] 2024 Sep 13; Vol. 16 (1), pp. 112. Date of Electronic Publication: 2024 Sep 13.
Autor:
Jensen M; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA., Smolen C; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA., Tyryshkina A; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., Pizzo L; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., Banerjee D; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., Oetjens M; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA 17837, USA., Shimelis H; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA 17837, USA., Taylor CM; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA 17837, USA., Pounraja VK; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA., Song H; Department of Statistics, Pennsylvania State University, University Park, PA 16802, USA., Rohan L; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., Huber E; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., El Khattabi L; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., van de Laar I; Department of Clinical Genetics, Erasmus MC, Univ. Medical Center Rotterdam, Rotterdam, The Netherlands., Tadros R; Department of Clinical Genetics, Erasmus MC, Univ. Medical Center Rotterdam, Rotterdam, The Netherlands., Bezzina C; Department of Clinical Genetics, Erasmus MC, Univ. Medical Center Rotterdam, Rotterdam, The Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC, Univ. Medical Center Rotterdam, Rotterdam, The Netherlands., Kammeraad J; Department of Clinical Genetics, Erasmus MC, Univ. Medical Center Rotterdam, Rotterdam, The Netherlands., Prontera P; Medical Genetics Unit, Hospital Santa Maria della Misericordia, Perugia, Italy., Caberg JH; Centre Hospitalier Universitaire de Liège. Domaine Universitaire du Sart Tilman, Liège, Belgium., Fraser H; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals, NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, UK., Van Dijck A; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium., Schwartz C; Greenwood Genetic Center, Greenwood, SC 29646, USA., Voorhoeve E; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands., Callier P; Center for Rare Diseases and Reference Developmental Anomalies and Malformation Syndromes, CHU Dijon, Dijon, France., Mosca-Boidron AL; Center for Rare Diseases and Reference Developmental Anomalies and Malformation Syndromes, CHU Dijon, Dijon, France., Marle N; Center for Rare Diseases and Reference Developmental Anomalies and Malformation Syndromes, CHU Dijon, Dijon, France., Lefebvre M; Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, France., Pope K; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Australia., Snell P; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Australia., Boys A; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Australia., Lockhart PJ; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Ashfaq M; Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center, Houston, TX 77030, USA., McCready E; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada., Nowacyzk M; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada., Castiglia L; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy., Galesi O; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy., Avola E; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy., Mattina T; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy., Fichera M; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.; Section of Clinical Biochemistry and Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania School of Medicine, Catania, Italy., Bruccheri MG; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy., Mandarà GML; Medical Genetics, ASP Ragusa, Ragusa, Italy., Mari F; Laboratory of Clinical Molecular Genetics and Cytogenetics, IRCCS San Raffaele Scientific Institute, Milan, Italy., Privitera F; Laboratory of Clinical Molecular Genetics and Cytogenetics, IRCCS San Raffaele Scientific Institute, Milan, Italy., Longo I; Laboratory of Clinical Molecular Genetics and Cytogenetics, IRCCS San Raffaele Scientific Institute, Milan, Italy., Curró A; Laboratory of Clinical Molecular Genetics and Cytogenetics, IRCCS San Raffaele Scientific Institute, Milan, Italy., Renieri A; Laboratory of Clinical Molecular Genetics and Cytogenetics, IRCCS San Raffaele Scientific Institute, Milan, Italy., Keren B; Département de Génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, 75019 Paris, France., Charles P; Département de Génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, 75019 Paris, France., Cuinat S; CHU Nantes, Medical Genetics Department, Nantes, France., Nizon M; CHU Nantes, Medical Genetics Department, Nantes, France., Pichon O; CHU Nantes, Medical Genetics Department, Nantes, France., Bénéteau C; CHU Nantes, Medical Genetics Department, Nantes, France., Stoeva R; CHU Nantes, Medical Genetics Department, Nantes, France., Martin-Coignard D; Service de Cytogenetique, CHU de Le Mans, Le Mans, France., Blesson S; Department of Genetics, Bretonneau University Hospital, Tours, France., Le Caignec C; CHU Toulouse, Department of Medical Genetics, Toulouse, France.; Toulouse Neuro Imaging, Center, Inserm, UPS, Université de Toulouse, Toulouse, France., Mercier S; Department of Genetics, Bretonneau University Hospital, Tours, France., Vincent M; Department of Genetics, Bretonneau University Hospital, Tours, France., Martin C; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA 17837, USA., Mannik K; Institute of Genomics, University of Tartu, Estonia.; Health2030 Genome Center, Fondation Campus Biotech, Geneva, Switzerland., Reymond A; Center for Integrative Genomics, Faculty of Biology and Medicine, University of Lausanne, Switzerland., Faivre L; Center for Rare Diseases and Reference Developmental Anomalies and Malformation Syndromes, CHU Dijon, Dijon, France.; Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, France., Sistermans E; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands., Kooy RF; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium., Amor DJ; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands., Romano C; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.; Section of Clinical Biochemistry and Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania School of Medicine, Catania, Italy., Andrieux J; Institut de Genetique Medicale, Hopital Jeanne de Flandre, CHRU de Lille, Lille, France., Girirajan S; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA.; Department of Anthropology, Pennsylvania State University, University Park, PA 16802, USA.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2024 Aug 28. Date of Electronic Publication: 2024 Aug 28.
Autor:
Smolen C; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA., Jensen M; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA., Dyer L; GeneDx, Gaithersburg, MD 20877, USA., Pizzo L; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., Tyryshkina A; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Neuroscience Graduate Program, Pennsylvania State University, University Park, PA 16802, USA., Banerjee D; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA., Rohan L; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., Huber E; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., El Khattabi L; Assistance Publique-Hôpitaux de Paris, Department of Medical Genetics, Armand Trousseau and Pitié-Salpêtrière Hospitals, Paris, France., Prontera P; Medical Genetics Unit, Hospital 'Santa Maria della Misericordia', Perugia, Italy., Caberg JH; Centre Hospitalier Universitaire de Liège. Domaine Universitaire du Sart Tilman, Liège, Belgium., Van Dijck A; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium., Schwartz C; Greenwood Genetic Center, Greenwood, SC 29646, USA., Faivre L; Centre de Genetique et Cenre de Référence Anomalies du développement et syndromes malformatifs, Hôpital d'Enfants, CHU Dijon, Dijon, France; GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France., Callier P; Centre de Genetique et Cenre de Référence Anomalies du développement et syndromes malformatifs, Hôpital d'Enfants, CHU Dijon, Dijon, France; GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France., Mosca-Boidron AL; Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, Dijon, France., Lefebvre M; GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France., Pope K; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Snell P; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Lockhart PJ; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Bruce Lefroy Center, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Castiglia L; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy., Galesi O; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy., Avola E; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy., Mattina T; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy., Fichera M; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy., Luana Mandarà GM; Medical Genetics, ASP Ragusa, Ragusa, Italy., Bruccheri MG; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy., Pichon O; CHU Nantes, Department of Medical Genetics, Nantes, France., Le Caignec C; CHU Toulouse, Department of Medical Genetics, Toulouse, France; ToNIC, Toulouse Neuro Imaging, Center, Inserm, UPS, Université de Toulouse, Toulouse, France., Stoeva R; Service de Cytogenetique, CHU de Le Mans, Le Mans, France., Cuinat S; CHU Nantes, Department of Medical Genetics, Nantes, France., Mercier S; CHU Nantes, Department of Medical Genetics, Nantes, France., Bénéteau C; CHU Nantes, Department of Medical Genetics, Nantes, France., Blesson S; Department of Genetics, Bretonneau University Hospital, Tours, France., Nordsletten A; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., Martin-Coignard D; Department of Genetics, Bretonneau University Hospital, Tours, France., Sistermans E; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, the Netherlands., Kooy RF; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium., Amor DJ; Bruce Lefroy Center, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Romano C; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy; Medical Genetics, ASP Ragusa, Ragusa, Italy., Isidor B; CHU Nantes, Department of Medical Genetics, Nantes, France., Juusola J; GeneDx, Gaithersburg, MD 20877, USA., Girirajan S; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA; Neuroscience Graduate Program, Pennsylvania State University, University Park, PA 16802, USA; Department of Anthropology, Pennsylvania State University, University Park, PA 16802, USA. Electronic address: sxg47@psu.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2023 Dec 07; Vol. 110 (12), pp. 2015-2028. Date of Electronic Publication: 2023 Nov 17.
Autor:
Smolen C; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA., Jensen M; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA., Dyer L; GeneDx, Gaithersburg, MD 20877, USA., Pizzo L; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., Tyryshkina A; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Neuroscience Graduate program, Pennsylvania State University, University Park, PA 16802., Banerjee D; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA., Rohan L; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., Huber E; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., El Khattabi L; Assistance Publique-Hôpitaux de Paris, Department of Medical Genetics, Armand Trousseau and Pitié-Salpêtrière Hospitals, Paris, France., Prontera P; Medical Genetics Unit, Hospital 'Santa Maria della Misericordia', Perugia, Italy., Caberg JH; Centre Hospitalier Universitaire de Liège. Domaine Universitaire du Sart Tilman, Liège, Belgium., Van Dijck A; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium., Schwartz C; Greenwood Genetic Center, Greenwood, SC 29646, USA., Faivre L; Centre de Genetique et Cenre de Référence Anomalies du développement et syndromes malformatifs, Hôpital d'Enfants, CHU Dijon, Dijon, France.; GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France., Callier P; Centre de Genetique et Cenre de Référence Anomalies du développement et syndromes malformatifs, Hôpital d'Enfants, CHU Dijon, Dijon, France.; GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France., Mosca-Boidron AL; Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, France., Lefebvre M; GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France., Pope K; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Snell P; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Lockhart PJ; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Bruce Lefroy Center, Murdoch Children's Research Institute, Melbourne, Australia., Castiglia L; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy., Galesi O; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy., Avola E; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy., Mattina T; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy., Fichera M; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy.; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy., Mandarà GML; Medical Genetics, ASP Ragusa, Ragusa, Italy., Bruccheri MG; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy., Pichon O; CHU Nantes, Department of Medical Genetics, Nantes, France., Le Caignec C; CHU Toulouse, Department of Medical Genetics, Toulouse, France.; ToNIC, Toulouse Neuro Imaging, Center, Inserm, UPS, Université de Toulouse, Toulouse, France., Stoeva R; Service de Cytogenetique, CHU de Le Mans, Le Mans, France., Cuinat S; CHU Nantes, Department of Medical Genetics, Nantes, France., Mercier S; CHU Nantes, Department of Medical Genetics, Nantes, France., Bénéteau C; CHU Nantes, Department of Medical Genetics, Nantes, France., Blesson S; Department of Genetics, Bretonneau University Hospital, Tours, France., Nordsletten A; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., Martin-Coignard D; Department of Genetics, Bretonneau University Hospital, Tours, France., Sistermans E; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands., Kooy RF; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium., Amor DJ; Bruce Lefroy Center, Murdoch Children's Research Institute, Melbourne, Australia., Romano C; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy.; Medical Genetics, ASP Ragusa, Ragusa, Italy., Isidor B; CHU Nantes, Department of Medical Genetics, Nantes, France., Juusola J; GeneDx, Gaithersburg, MD 20877, USA., Girirajan S; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA.; Neuroscience Graduate program, Pennsylvania State University, University Park, PA 16802.; Department of Anthropology, Pennsylvania State University, University Park, PA 16802, USA.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2023 May 26. Date of Electronic Publication: 2023 May 26.
Autor:
Harvengt J; Human Genetics Department, CHU of Liège, Liège, Belgium.; GIGA Research, University of Liège, Liège, Belgium., Lumaka A; Human Genetics Department, CHU of Liège, Liège, Belgium.; GIGA Research, University of Liège, Liège, Belgium., Fasquelle C; Human Genetics Department, CHU of Liège, Liège, Belgium.; GIGA Research, University of Liège, Liège, Belgium., Caberg JH; Human Genetics Department, CHU of Liège, Liège, Belgium., Mastouri M; Pediatric Department, Hospital Center of Luxembourg, Luxembourg City, Luxembourg., Janssen A; Pediatric Department, CHU of Liège, Liège, Belgium., Palmeira L; Human Genetics Department, CHU of Liège, Liège, Belgium.; GIGA Research, University of Liège, Liège, Belgium., Bours V; Human Genetics Department, CHU of Liège, Liège, Belgium.; GIGA Research, University of Liège, Liège, Belgium.
Publikováno v:
Frontiers in genetics [Front Genet] 2023 Mar 22; Vol. 14, pp. 1137767. Date of Electronic Publication: 2023 Mar 22 (Print Publication: 2023).
Autor:
Boemer, F, Caberg, JH, Dideberg, V, Beckers, P, Marie, S, Marcelis, L, Bours, V, Dangouloff, T, Servais, L
Publikováno v:
Revue medicale de Liege, Vol. 74, no.9, p. 461-464 (2019)
The treatment of spinal muscular atrophy (SMA) has considerably changed over the last 3 years. Several approaches that aim to increase the deficient SMN protein have demonstrated an efficacy that is inversely correlated with disease duration. In this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b0d2afdf1038f48eefb2b9931358025f
https://pubmed.ncbi.nlm.nih.gov/31486315
https://pubmed.ncbi.nlm.nih.gov/31486315
Autor:
Jouret G; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg., Heide S; Service de Génétique Cytogénétique, Embryologie Hôpital Pitié-Salpétrière, France., Sorlin A; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg.; Centre de Génétique, CHU de Dijon, Dijon, France.; Génétique des Anomalies du Développement, Inserm 1231 GAD, Université de Bourgogne, France., Faivre L; Centre de Génétique, CHU de Dijon, Dijon, France.; Génétique des Anomalies du Développement, Inserm 1231 GAD, Université de Bourgogne, France., Chantot-Bastaraud S; Service de Génétique Et Embryologie Médicales, CHU Paris Est, Hôpital d'Enfants Armand-Trousseau, France., Beneteau C; Service de Génétique Médicale, CHU de Nantes, Institut de Biologie, France., Denis-Musquer M; Service d'Anatomie et Cytologie Pathologiques, Hôpital-Dieu, Nantes, France., Turnpenny PD; Clinical Genetics Department, Royal Devon and Exeter Hospital, UK., Coutton C; Service de Génétique Médicale, Grenoble, France., Vieville G; Service de Génétique Médicale, Grenoble, France., Thevenon J; Service de Génétique Médicale, Grenoble, France., Larson A; Clinical Genetics Department, Children's Hospital Colorado, Littleton, Colorado, USA., Petit F; Clinique de Génétique 'Guy Fontaine', CHU de Lille, France., Boudry E; Institut de Génétique Médicale, CHU de Lille, France., Smol T; Institut de Génétique Médicale, CHU de Lille, France., Delobel B; Centre de Génétique Chromosomique, GH de l'Institut, Catholique de Lille, France., Duban-Bedu B; Centre de Génétique Chromosomique, GH de l'Institut, Catholique de Lille, France., Fallerini C; Medical Genetics Department, University of Siena, Siena, Italy., Mari F; Medical Genetics Department, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Lo Rizzo C; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Renieri A; Medical Genetics Department, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Caberg JH; Centre de Génétique Humaine, CHU de Liège, Liège, Belgium., Denommé-Pichon AS; Centre de Génétique, CHU de Dijon, Dijon, France.; UF6254 Innovation en Diagnostic Genomique des Maladies Rares, Dijon, France., Tran Mau-Them F; Centre de Génétique, CHU de Dijon, Dijon, France.; UF6254 Innovation en Diagnostic Genomique des Maladies Rares, Dijon, France., Maystadt I; Centre de Genetique Humaine, Institut de Pathologie et de Genetique, Charleroi, Belgium., Courtin T; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France., Keren B; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France., Mouthon L; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France., Charles P; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France., Cuinat S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, France., Isidor B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, France., Theis P; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg., Müller C; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg., Kulisic M; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg., Türkmen S; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg., Stieber D; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg., Bourgeois D; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg., Scalais E; Pediatric Neurology Unit, Pediatric Department, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg., Klink B; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg.
Publikováno v:
Clinical genetics [Clin Genet] 2022 Aug; Vol. 102 (2), pp. 117-122. Date of Electronic Publication: 2022 Apr 25.
Autor:
Boemer F; Biochemical Genetics Laboratory, Department of Human Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium., Josse C; Department of Medical Oncology, CHU of Liege, University of Liege, 4000 Liege, Belgium.; Laboratory of Human Genetics, Department of Biomedical and Preclinical Sciences, Groupe Interdisciplinaire de Génoprotéomique Appliquée-Recherche (GIGA-R), University of Liege, 4000 Liege, Belgium., Luis G; Biochemical Genetics Laboratory, Department of Human Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium., Di Valentin E; Viral Vector Platform, Groupe Interdisciplinaire de Génoprotéomique Appliquée-Recherche (GIGA-R), University of Liege, 4000 Liege, Belgium., Thiry J; Department of Medical Oncology, CHU of Liege, University of Liege, 4000 Liege, Belgium., Cello C; Biochemical Genetics Laboratory, Department of Human Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium., Caberg JH; Molecular Genetics Laboratory, Department of Human Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium., Dadoumont C; Department of Pediatrics, CHC MontLégia, 4000 Liege, Belgium., Harvengt J; Center of Genetics, Department of Human Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium., Lumaka A; Laboratory of Human Genetics, Department of Biomedical and Preclinical Sciences, Groupe Interdisciplinaire de Génoprotéomique Appliquée-Recherche (GIGA-R), University of Liege, 4000 Liege, Belgium., Bours V; Center of Genetics, Department of Human Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium., Debray FG; Metabolic Unit, Department of Human Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2022 Feb 18; Vol. 23 (4). Date of Electronic Publication: 2022 Feb 18.
Autor:
Boemer F; Biochemical Genetics Laboratory, Human Genetics, CHU Sart-Tilman, University of Liège, B35, 4000, Liège, Belgium. F.Boemer@chuliege.be., Caberg JH; Molecular Genetics Lab, Department of Human Genetics, CHU of Liège, University of Liège, Liège, Belgium., Beckers P; Biochemical Genetics Laboratory, Human Genetics, CHU Sart-Tilman, University of Liège, B35, 4000, Liège, Belgium., Dideberg V; Molecular Genetics Lab, Department of Human Genetics, CHU of Liège, University of Liège, Liège, Belgium., di Fiore S; Biochemical Genetics Laboratory, Human Genetics, CHU Sart-Tilman, University of Liège, B35, 4000, Liège, Belgium., Bours V; Department of Human Genetics, CHU of Liège, University of Liège, Liège, Belgium., Marie S; Department of Laboratory Medicine, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium., Dewulf J; Department of Laboratory Medicine, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium., Marcelis L; Laboratory of Pediatric Research, Free University of Brussels, Brussels, Belgium., Deconinck N; Neuromuscular Reference Center, Hôpital des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles, Brussels, Belgium., Daron A; Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Pediatrics, CHR Citadelle, University of Liège, Liège, Belgium., Blasco-Perez L; Department of Clinical and Molecular Genetics, Hospital Valle Hebron, Barcelona, Spain., Tizzano E; Department of Clinical and Molecular Genetics, Hospital Valle Hebron, Barcelona, Spain., Hiligsmann M; Department of Health Services Research, CAPHRI Care and Public Health Research Institute, Maastricht University, Maastricht, The Netherlands., Lombet J; ONE, Office de la Naissance et de l'Enfance, Herstal, Belgium., Pereira T; ONE, Office de la Naissance et de l'Enfance, Herstal, Belgium., Lopez-Granados L; ONE, Office de la Naissance et de l'Enfance, Herstal, Belgium., Shalchian-Tehran S; Department of Neurology and Ethic Committee, CHR Citadelle, Liège, Belgium., van Assche V; ABMM, Association Belge contre les Maladies neuro-Musculaires ASBL, La Louvière, Belgium., Willems A; ABMM, Association Belge contre les Maladies neuro-Musculaires ASBL, La Louvière, Belgium., Huybrechts S; Biogen, Cambridge, MA, USA., Mast B; Roche, Basel, Switzerland., van Olden R; Novartis Gene Therapies Switzerland GmBH, Zürich, Switzerland., Dangouloff T; Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Pediatrics, CHR Citadelle, University of Liège, Liège, Belgium., Servais L; Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Pediatrics, CHR Citadelle, University of Liège, Liège, Belgium.; MDUK Neuromuscular Center, Department of Paediatrics, University of Oxford, Oxford, UK.
Publikováno v:
Scientific reports [Sci Rep] 2021 Oct 07; Vol. 11 (1), pp. 19922. Date of Electronic Publication: 2021 Oct 07.
Autor:
Quental, Rita1 (AUTHOR), Pinho, Diana2,3 (AUTHOR), Tkachenko, Natália4,5 (AUTHOR), Gonzaga, Diana6 (AUTHOR), Mota, Maria do Céu7 (AUTHOR), Garrido, Cristina6 (AUTHOR), Carmona, Carla4,5 (AUTHOR), Quental, Sofia2,3 (AUTHOR), Fortuna, Ana Maria4,5 (AUTHOR), Azevedo Soares, Célia3,4,5,8 (AUTHOR) celiasoares@chporto.min-saude.pt
Publikováno v:
Egyptian Journal of Medical Human Genetics. 9/3/2024, Vol. 25 Issue 1, p1-4. 4p.