المؤلفون: Faivre, L, Collod-Beroud, G, Adès, L, Arbustini, E, Child, A, Callewaert, BL, Loeys, B, Binquet, C, Gautier, E, Mayer, K, Arslan-Kirchner, M, Grasso, M, Beroud, C, Hamroun, D, Bonithon-Kopp, C, Plauchu, H, Robinson, PN, De Backer, J, Coucke, P, Francke, U

المصدر: Clinical Genetics; May2012, Vol. 81 Issue 5, p433-442, 10p, 1 Diagram, 2 Charts, 3 Graphs

مصطلحات موضوعية: MARFAN syndrome, NOSOLOGY, AORTIC aneurysms, MITRAL valve prolapse, MITRAL valve diseases, DIAGNOSIS

المؤلفون: Faivre L, Masurel-Paulet A, Collod-Béroud G, Callewaert BL, Child AH, Stheneur C, Binquet C, Gautier E, Chevallier B, Huet F, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Halliday DJ, Béroud C, Bonithon-Kopp C

المصدر: Pediatrics; Jan2009, Vol. 123 Issue 1, p391-398, 8p

المؤلفون: Szakszon K; Faculty of Medicine Institute of Pediatrics, University of Debrecen, Debrecen, Hungary szakszon.katalin@med.unideb.hu.; Rare Congenital Malformations and Rare intellectual Disability (ERN ITHACA), European Reference Networks, Debrecen, Hungary., Lourenco CM; Neurogenetics Unit - Inborn Errors of Metabolism Clinics, National Reference Center for Rare Diseases, Medicine School of Sao Jose do Rio Preto, Sao Jose do Rio Preto, Brazil., Callewaert BL; Center for Medical Genetics, University Hospital Ghent, Gent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Geneviève D; Montpellier University, Inserm Unit U1183, Reference Center for Rare Disease: Developmental Anomalies. Clinical Genetic Unit, CHU Montpellier, Montpellier, France.; Rare Congenital Malformations and Rare Intellectual Disability (ERN ITHACA), European Reference Networks, Montpellier, France., Rouxel F; Génétique Clinique, Départment de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU Montpellier, Montpellier University, Centre de Référence Anomalies du Développement SOOR, Montpellier, France., Morin D; Rare Kidney Disease Center, Montpellier University Hospital, Montpellier, France., Denommé-Pichon AS; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France., Vitobello A; Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, France.; Inserm UMR1231 team GAD, University of Burgundy, Dijon, France., Patterson WG; Greenwood Genetic Center Foundation, Greenwood, South Carolina, USA., Louie R; Greenwood Genetic Center Inc, Greenwood, South Carolina, USA., Pinto E Vairo F; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA., Klee E; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA., Kaiwar C; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA., Gavrilova RH; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA., Agre KE; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA., Jacquemont S; Sainte-Justine Research Center, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada.; Department of Medical Genetics, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada., Khadijé J; Department of Medical Genetics, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada., Giltay J; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., van Gassen K; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Merő G; Faculty of Medicine Institute of Pediatrics, University of Debrecen, Debrecen, Hungary., Gerkes E; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands., Van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Rinne T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Brunner HG; Klinische Genetica, Maastricht University Medical Centre, Maastricht, The Netherlands., Caluseriu O; Medical Genetics Clinic, University of Alberta, Edmonton, Alberta, Canada., Grasshoff U; Institute of Medical Genetics and Applied Genomics, University Clinic, Tübingen University, Tübingen, Germany., Kehrer M; Institute of Medical Genetics and Applied Genomics, University Clinic, Tübingen University, Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University Clinic, Tübingen University, Tübingen, Germany., Khelifa MM; Department of Human Genetics, Medical College Hannover, Hannover, Germany., Bergmann AK; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Rare Congenital Malformations and Rare intellectual Disability (ERN ITHACA), European Reference Networks, Barcelona, Spain., Martorell AC; Pediatric Endocrinology Department, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Endocrinology Group, Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Vall d'Hebron Research Institute, Barcelona, Spain., Ramachandrappa S; Clinical Genetics Department, Guy's & St Thomas' NHS Foundation Trust, London, UK., Sawyer LB; Department of Medical Genetics, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Fasel P; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland., Braun D; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland., Isis A; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland., Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland., McNiven V; University Health Network and Mount Sinai Hospital, Fred A Litwin Family Centre in Genetic Medicine, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Chitayat D; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, Ontario, Canada., Ahmed SA; University Health Network and Mount Sinai Hospital, Fred A Litwin Family Centre in Genetic Medicine, Toronto, Ontario, Canada., Brennenstuhl H; Insittute of Human Genetics, Heidelberg University, Heidelberg, Germany., Schwaibolf EM; Insittute of Human Genetics, Heidelberg University, Heidelberg, Germany., Battisti G; Centre de Génétique Humaine, Institut de Pathologie et de Genetique asbl, Gosselies, Belgium., Parmentier B; Centre de Génétique Humaine, Institut de Pathologie et de Genetique asbl, Gosselies, Belgium., Stevens SJC; Klinische Genetica, Maastricht University Medical Center, Maastricht, The Netherlands.

المصدر: Journal of medical genetics [J Med Genet] 2024 Jan 19; Vol. 61 (2), pp. 132-141. Date of Electronic Publication: 2024 Jan 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Intellectual Disability*/diagnosis , Leukoencephalopathies*, Humans ; Child ; Corpus Callosum ; Facies ; Mutation/genetics ; Phenotype ; Genotype ; Syndrome ; Developmental Disabilities/pathology ; DNA-Binding Proteins/genetics ; Transcription Factors/genetics

المؤلفون: Brunet T; Institute of Human Genetics, Technical University Munich, Munich, Germany. theresa.brunet@mri.tum.de., McWalter K; GeneDx, Inc., Gaithersburg, MD, USA., Mayerhanser K; Institute of Human Genetics, Technical University Munich, Munich, Germany., Anbouba GM; Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Armstrong-Javors A; Department of Pediatric Neurology, Massachusetts General Hospital, Boston, MA, USA., Bader I; Department of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, Austria., Baugh E; Institute for Genomic Medicine, Columbia University, New York, NY, USA., Begtrup A; GeneDx, Inc., Gaithersburg, MD, USA., Bupp CP; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI, USA.; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, USA., Callewaert BL; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Cereda A; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy., Cousin MA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA., Del Rey Jimenez JC; St George's Genomics Service, St George's University Hospitals NHS FT, London, UK., Demmer L; Medical Genetics, Atrium Health Levine Children's Hospital, Charlotte, NC, USA., Dsouza NR; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA., Fleischer N; FDNA Inc., Boston, MA, USA., Gavrilova RH; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Department of Neurology, Mayo Clinic, Rochester, MN, USA., Ghate S; St Vincent Hospital Medical Genetics Clinic, Green Bay, WI, USA., Graf E; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Green A; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland., Green SR; University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Springdale, AR, USA., Iascone M; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy., Kdissa A; CENTOGENE AG, Rostock, Germany., Klee D; Department of Diagnostic and Interventional Radiology, Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Lancaster E; UPMC Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Lindstrom K; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA., Mayr JA; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria., McEntagart M; Medical Genetics, St George's University Hospitals NHS FT, London, UK., Meeks NJL; Department of Pediatrics, Section of Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Mittag D; Medical Genetics, Atrium Health Levine Children's Hospital, Charlotte, NC, USA., Moore H; INTEGRIS Pediatric Specialties/Medical Genetics, Oklahoma City, OK, USA., Olsen AK; Department of Pediatric, Soerlandet Sykehus Kristiansand, Kristiansand, Norway., Ortiz D; UPMC Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Parsons G; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI, USA., Pena LDM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Person RE; GeneDx, Inc., Gaithersburg, MD, USA., Punj S; GeneDx, Inc., Gaithersburg, MD, USA., Ramos-Rivera GA; Department of Pediatric Neurology, National Institute of Children's Diseases, Bratislava, Slovakia., Sacoto MJG; GeneDx, Inc., Gaithersburg, MD, USA., Bradley Schaefer G; University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Springdale, AR, USA., Schnur RE; GeneDx, Inc., Gaithersburg, MD, USA., Scott TM; Texas Children's Hospital, Houston, TX, USA.; Department of Microbiology and Molecular Biology, College of Life Sciences, Brigham Young University, Provo, UT, USA., Scott DA; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA., Serbinski CR; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA., Siu VM; Department of Pediatrics, Western University, London, ON, Canada., Stadheim BF; Department of Clinical Genetics, Oslo University Hospital, Oslo, Norway., Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA., Švantnerová J; Second Department of Neurology, Faculty of Medicine, Comenius University, University Hospital Bratislava, Bratislava, Slovakia., Velsher L; Genetics Program, North York General Hospital, Toronto, ON, Canada., Wargowski DS; Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; St Vincent Hospital Medical Genetics Clinic, Green Bay, WI, USA., Wentzensen IM; GeneDx, Inc., Gaithersburg, MD, USA., Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany., Winkelmann J; Institute of Human Genetics, Technical University Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.; Neurogenetics, Technische Universität München, Munich, Germany., Yap P; Genetic Health Service New Zealand (Northern Hub), Auckland, New Zealand.; Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand., Zech M; Institute of Human Genetics, Technical University Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA., Meitinger T; Institute of Human Genetics, Technical University Munich, Munich, Germany., Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich-Heine-University, Düsseldorf, Germany., Wagner M; Institute of Human Genetics, Technical University Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Feb; Vol. 23 (2), pp. 384-395. Date of Electronic Publication: 2020 Nov 11.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Autism Spectrum Disorder*/genetics , Intellectual Disability*/genetics, Chromosomal Proteins, Non-Histone ; DNA-Binding Proteins ; Female ; Genes, X-Linked ; Genotype ; Humans ; Male ; Phenotype ; Exome Sequencing

المؤلفون: Hostetler EM; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center, Houston, Texas, USA., Regalado ES; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center, Houston, Texas, USA., Guo DC; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center, Houston, Texas, USA., Hanna N; Département de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France.; Laboratory for Vascular Translational Science, INSERM U1148, Université Paris Diderot, Hôpital Bichat, Paris, France., Arnaud P; Département de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France.; Laboratory for Vascular Translational Science, INSERM U1148, Université Paris Diderot, Hôpital Bichat, Paris, France., Muiño-Mosquera L; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Callewaert BL; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Lee K; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Leal SM; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Wallace SE; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center, Houston, Texas, USA., Rideout AL; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada., Dyack S; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada.; Department of Pediatrics and Medicine, Dalhousie University, Halifax, Nova Scotia, Canada., Aatre RD; Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA., Boileau C; Département de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France.; Centre de référence pour le syndrome de Marfan et apparentés, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Faculté Paris Diderot, LVTS INSERM U 1148, Paris, France., De Backer J; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Jondeau G; Centre de référence pour le syndrome de Marfan et apparentés, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Faculté Paris Diderot, LVTS INSERM U 1148, Paris, France.; Service de Cardiologie, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France., Milewicz DM; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center, Houston, Texas, USA.

المصدر: Journal of medical genetics [J Med Genet] 2019 Apr; Vol. 56 (4), pp. 252-260. Date of Electronic Publication: 2019 Jan 19.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies* , Genetic Predisposition to Disease* , Genetic Variation* , Phenotype*, Aortic Aneurysm, Thoracic/*diagnosis , Aortic Aneurysm, Thoracic/*genetics , Smad3 Protein/*genetics, Adolescent ; Adult ; Aged ; Alleles ; Amino Acid Substitution ; Aortic Aneurysm, Thoracic/complications ; Child ; Child, Preschool ; Female ; Humans ; Male ; Middle Aged ; Mutation ; Prognosis ; Protein Domains/genetics ; Risk Factors ; Smad3 Protein/chemistry

المؤلفون: Németh CE; Department of Medical Chemistry, Molecular Biology, and Pathobiochemistry, Semmelweis University, Budapest 1094, Hungary., Nemoda Z; Department of Medical Chemistry, Molecular Biology, and Pathobiochemistry, Semmelweis University, Budapest 1094, Hungary., Lőw P; Department of Anatomy, Cell and Developmental Biology, Eötvös Loránd University, Budapest 1117, Hungary., Szabó P; Research Centre for Natural Sciences of the Hungarian Academy of Sciences, Budapest 1117, Hungary., Horváth EZ; Department of Medical Chemistry, Molecular Biology, and Pathobiochemistry, Semmelweis University, Budapest 1094, Hungary., Willaert A; Center for Medical Genetics, Ghent University, Ghent B-9000, Belgium., Boel A; Center for Medical Genetics, Ghent University, Ghent B-9000, Belgium., Callewaert BL; Center for Medical Genetics, Ghent University, Ghent B-9000, Belgium., Coucke PJ; Center for Medical Genetics, Ghent University, Ghent B-9000, Belgium., Colombi M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia 25123, Italy., Bánhegyi G; Department of Medical Chemistry, Molecular Biology, and Pathobiochemistry, Semmelweis University, Budapest 1094, Hungary.; Pathobiochemistry Research Group of Hungarian Academy of Sciences & Semmelweis University, Budapest 1094, Hungary., Margittai É; Institute of Clinical Experimental Research, Semmelweis University, Budapest 1094, Hungary.

المصدر: Oxidative medicine and cellular longevity [Oxid Med Cell Longev] 2019 Jan 13; Vol. 2019, pp. 8156592. Date of Electronic Publication: 2019 Jan 13 (Print Publication: 2019).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Hindawi Pub. Corp Country of Publication: United States NLM ID: 101479826 Publication Model: eCollection Cited Medium: Internet ISSN: 1942-0994 (Electronic) Linking ISSN: 19420994 NLM ISO Abbreviation: Oxid Med Cell Longev Subsets: MEDLINE

مواضيع طبية MeSH: Genome, Human*, Arteries/*abnormalities , Ascorbic Acid/*metabolism , Cell Nucleus/*metabolism , DNA Methylation/*genetics , Fibroblasts/*metabolism , Fibroblasts/*pathology , Joint Instability/*genetics , Skin Diseases, Genetic/*genetics , Vascular Malformations/*genetics, 5-Methylcytosine/analogs & derivatives ; 5-Methylcytosine/metabolism ; Cells, Cultured ; Epigenesis, Genetic ; Humans ; Models, Biological ; PPAR gamma/genetics ; PPAR gamma/metabolism

SCR Disease Name: Arterial Tortuosity Syndrome

المؤلفون: Renard M; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Francis C; National Heart and Lung institute, Imperial College London, London, United Kingdom; NIHR Cardiovascular Biomedical Research Unit, Royal Brompton Hospital, London, United Kingdom., Ghosh R; Department of Pediatrics, Baylor College of Medicine, Houston, Texas., Scott AF; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland., Witmer PD; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland., Adès LC; Children's Hospital at Westmead, Sydney, New South Wales, Australia., Andelfinger GU; Cardiovascular Genetics, Department of Pediatrics, Centre de Recherche du Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréal, Québec, Canada., Arnaud P; Département de Génétique et Centre de Référence Maladies Rares Syndrome de Marfan et pathologies apparentées, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France; LVTS, INSERM U1148, Université Paris Diderot, Hôpital Bichat, Paris, France., Boileau C; Département de Génétique et Centre de Référence Maladies Rares Syndrome de Marfan et pathologies apparentées, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France; LVTS, INSERM U1148, Université Paris Diderot, Hôpital Bichat, Paris, France., Callewaert BL; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Guo D; Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, Texas., Hanna N; Département de Génétique et Centre de Référence Maladies Rares Syndrome de Marfan et pathologies apparentées, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France; LVTS, INSERM U1148, Université Paris Diderot, Hôpital Bichat, Paris, France., Lindsay ME; Thoracic Aortic Center and Cardiovascular Genetics Program, Departments of Medicine and Pediatrics, Massachusetts General Hospital, Boston, Massachusetts., Morisaki H; Department of Medical Genetics, Sakakibara Heart Institute, Tokyo, Japan; Tokyo University of Technology School of Health Sciences, Tokyo, Japan., Morisaki T; Department of Medical Genetics, Sakakibara Heart Institute, Tokyo, Japan; Tokyo University of Technology School of Health Sciences, Tokyo, Japan., Pachter N; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia., Robert L; Department of Clinical Genetics, Guys and St. Thomas' Hospital, London, United Kingdom., Van Laer L; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Dietz HC; Howard Hughes Medical Institute and Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland; Division of Pediatric Cardiology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland., Loeys BL; Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Milewicz DM; Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, Texas., De Backer J; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium; Department of Cardiology, Ghent University Hospital, Ghent, Belgium. Electronic address: Julie.Debacker@ugent.be.

المصدر: Journal of the American College of Cardiology [J Am Coll Cardiol] 2018 Aug 07; Vol. 72 (6), pp. 605-615.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Biomedical Country of Publication: United States NLM ID: 8301365 Publication Model: Print Cited Medium: Internet ISSN: 1558-3597 (Electronic) Linking ISSN: 07351097 NLM ISO Abbreviation: J Am Coll Cardiol Subsets: MEDLINE

مواضيع طبية MeSH: Aortic Dissection/*diagnosis , Aortic Dissection/*genetics , Aortic Aneurysm, Thoracic/*diagnosis , Aortic Aneurysm, Thoracic/*genetics , Genetic Predisposition to Disease/*genetics , Genetic Testing/*standards, Female ; Genetic Testing/methods ; Humans ; Male ; Reproducibility of Results

المؤلفون: Kreps EO; a Department of Ophthalmology , Ghent University Hospital , Ghent , Belgium., Van Herzeele I; b Department of Thoracic and Vascular Surgery , Ghent University Hospital , Ghent , Belgium., Callewaert BL; c Center for Medical Genetics , Ghent University Hospital , Ghent , Belgium.

المصدر: Ophthalmic genetics [Ophthalmic Genet] 2018 Apr; Vol. 39 (2), pp. 268-270. Date of Electronic Publication: 2017 Nov 28.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE

مواضيع طبية MeSH: Blepharitis/*diagnosis , Corneal Neovascularization/*diagnosis , Eye Neoplasms/*diagnosis , Multiple Endocrine Neoplasia Type 2b/*diagnosis , Multiple Endocrine Neoplasia Type 2b/*drug therapy , Neuroma/*diagnosis, Administration, Ophthalmic ; Administration, Oral ; Adult ; Blepharitis/drug therapy ; Cornea/innervation ; Corneal Neovascularization/drug therapy ; Eye Neoplasms/drug therapy ; Glucocorticoids/therapeutic use ; Humans ; Male ; Multiple Endocrine Neoplasia Type 2b/genetics ; Nerve Fibers, Myelinated/pathology ; Neuroma/drug therapy ; Proto-Oncogene Mas ; Proto-Oncogene Proteins c-ret/genetics ; Tetracycline/therapeutic use

المؤلفون: Gamberucci A; Department of Molecular and Developmental Medicine, University of Siena, 53100 Siena, Italy. alessandra.gamberucci@unisi.it., Marcolongo P; Department of Molecular and Developmental Medicine, University of Siena, 53100 Siena, Italy. paola.marcolongo@unisi.it., Németh CE; Department of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis University, 1094 Budapest, Hungary. nemeth.csilla@med.semmelweis-univ.hu., Zoppi N; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy. nicoletta.zoppi@unibs.it., Szarka A; Department of Applied Biotechnology and Food Science, Laboratory of Biochemistry and Molecular Biology, Budapest University of Technology and Economics, 1111 Budapest, Hungary. szarka@mail.bme.hu., Chiarelli N; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy. nicola.chiarelli@unibs.it., Hegedűs T; Department of Biophysics and Radiation Biology, Semmelweis University, 1094 Budapest, Hungary. tamas@hegelab.org., Ritelli M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy. marco.ritelli@unibs.it., Carini G; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy. g.carini001@unibs.it., Willaert A; Center for Medical Genetics, Ghent University, B-9000 Ghent, Belgium. Andy.Willaert@UGent.be., Callewaert BL; Center for Medical Genetics, Ghent University, B-9000 Ghent, Belgium. Bert.Callewaert@UGent.be., Coucke PJ; Center for Medical Genetics, Ghent University, B-9000 Ghent, Belgium. Paul.Coucke@UGent.be., Benedetti A; Department of Molecular and Developmental Medicine, University of Siena, 53100 Siena, Italy. benedetti@unisi.it., Margittai É; Institute of Clinical Experimental Research, Semmelweis University, 1094 Budapest, Hungary. margittai.eva@med.semmelweis-univ.hu., Fulceri R; Department of Molecular and Developmental Medicine, University of Siena, 53100 Siena, Italy. rosella.fulceri@unisi.it., Bánhegyi G; Department of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis University, 1094 Budapest, Hungary. banhegyi.gabor@med.semmelweis-univ.hu., Colombi M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy. marina.colombi@unibs.it.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2017 Aug 22; Vol. 18 (8). Date of Electronic Publication: 2017 Aug 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Arteries/*abnormalities , Endoplasmic Reticulum/*metabolism , Fibroblasts/*metabolism , Glucose Transport Proteins, Facilitative/*metabolism , Joint Instability/*metabolism , Skin Diseases, Genetic/*metabolism , Vascular Malformations/*metabolism, Arteries/metabolism ; Fluorescent Antibody Technique ; Humans ; Intracellular Space/metabolism ; Joint Instability/genetics ; Microsomes/metabolism ; Protein Binding ; Protein Transport ; Skin Diseases, Genetic/genetics ; Vascular Malformations/genetics

SCR Disease Name: Arterial Tortuosity Syndrome

المؤلفون: Németh CE; Department of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis University, Budapest, Hungary., Marcolongo P; Department of Molecular and Developmental Medicine, University of Siena, Italy., Gamberucci A; Department of Molecular and Developmental Medicine, University of Siena, Italy., Fulceri R; Department of Molecular and Developmental Medicine, University of Siena, Italy., Benedetti A; Department of Molecular and Developmental Medicine, University of Siena, Italy., Zoppi N; Division of Biology and Genetics, Department of Molecular and Translational Medicine, Medical Faculty, University of Brescia, Italy., Ritelli M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, Medical Faculty, University of Brescia, Italy., Chiarelli N; Division of Biology and Genetics, Department of Molecular and Translational Medicine, Medical Faculty, University of Brescia, Italy., Colombi M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, Medical Faculty, University of Brescia, Italy., Willaert A; Center for Medical Genetics, Ghent University, Belgium., Callewaert BL; Center for Medical Genetics, Ghent University, Belgium., Coucke PJ; Center for Medical Genetics, Ghent University, Belgium., Gróf P; Department of Biophysics and Radiation Biology, Semmelweis University, Budapest, Hungary., Nagy SK; Department of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis University, Budapest, Hungary., Mészáros T; Department of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis University, Budapest, Hungary., Bánhegyi G; Department of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis University, Budapest, Hungary., Margittai É; Institute of Clinical Experimental Research, Semmelweis University, Budapest, Hungary.

المصدر: FEBS letters [FEBS Lett] 2016 Jun; Vol. 590 (11), pp. 1630-40. Date of Electronic Publication: 2016 May 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Wiley & Sons Ltd Country of Publication: England NLM ID: 0155157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3468 (Electronic) Linking ISSN: 00145793 NLM ISO Abbreviation: FEBS Lett Subsets: MEDLINE

مواضيع طبية MeSH: Arteries/*abnormalities , Dehydroascorbic Acid/*metabolism , Glucose Transport Proteins, Facilitative/*genetics , Joint Instability/*genetics , Skin Diseases, Genetic/*genetics , Vascular Malformations/*genetics, Ascorbic Acid/metabolism ; Biological Transport/drug effects ; Biological Transport/genetics ; Cells, Cultured ; Fibroblasts/drug effects ; Fibroblasts/metabolism ; Gene Expression Regulation/drug effects ; Glucose Transport Proteins, Facilitative/antagonists & inhibitors ; Humans ; Intracellular Membranes/drug effects ; Intracellular Membranes/metabolism ; RNA Interference ; RNA, Small Interfering/pharmacology

SCR Disease Name: Arterial Tortuosity Syndrome