المؤلفون: Van Dijck, A, Vulto-van Silfhout, AT, Cappuyns, E, van der Werf, IM, Mancini, GM, Tzschach, A, Bernier, R, Gozes, I, Eichler, EE, Romano, C, Lindstrand, A, Nordgren, A, Kvarnung, M, Kleefstra, T, de Vries, BBA, Kury, S, Rosenfeld, JA, Meuwissen, ME, Vandeweyer, G, Kooy, RF, Bakshi, M, Wilson, M, Berman, Y, Dickson, R, Fransen, E, Helsmoortel, C, Van den Ende, J, Van der Aa, N, van de Wijdeven, MJ, Rosenblum, J, Monteiro, F, Kok, F, Quercia, N, Bowdin, S, Dyment, D, Chitayat, D, Alkhunaizi, E, Boonen, SE, Keren, B, Jacquette, A, Faivre, L, Bezieau, S, Isidor, B, Riess, A, Moog, U, Lynch, SA, McVeigh, T, Elpeleg, O, Smeland, MF, Fannemel, M, van Haeringen, A, Maas, SM, Veenstra-Knol, HE, Schouten, M, Willemsen, MH, Marcelis, CL, Ockeloen, C, van der Burgt, I, Feenstra, I, van der Smagt, J, Jezela-Stanek, A, Krajewska-Walasek, M, Gonzalez-Lamuno, D, Anderlid, BM, Malmgren, H, Nordenskjold, M, Clement, E, Hurst, J, Metcalfe, K, Mansour, S, Lachlan, K, Clayton-Smith, J, Hendon, LG, Abdulrahman, OA, Morrow, E, McMillan, C, Gerdts, J, Peeden, J, Vergano, SAS, Valentino, C, Chung, WK, Ozmore, JR, Bedrosian-Sermone, S, Dennis, A, Treat, K, Hughes, SS, Safina, N, Le Pichon, JB, McGuire, M, Infante, E, Madan-Khetarpal, S, Desai, S, Benke, P, Krokosky, A, Cristian, I, Baker, L, Gripp, K, Stessman, HA, Eichenberger, J, Jayakar, P, Pizzino, A, Manning, MA, Slattery, L

المصدر: Biological psychiatry. 85(4):287-297

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:140073087

المؤلفون: Meuwissen ME, de Vries LS, Verbeek HA, Lequin MH, Govaert PP, Schot R, Cowan FM, Hennekam R, Rizzu P, Verheijen FW, Wessels MW, Mancini GM, Meuwissen, M E C, de Vries, L S, Verbeek, H A, Lequin, M H, Govaert, P P, Schot, R, Cowan, F M, Hennekam, R

المصدر: Neurology; 3/1/2011, Vol. 76 Issue 9, p844-846, 3p

المؤلفون: Koene S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Peeters-Scholte CMPCD; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands., Knijnenburg J; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., de Vries LS; Department of Neonatology, Leiden University Medical Center, Leiden, The Netherlands., van Scheltema PNA; Department of Prenatal Diagnosis and Therapy, Leiden University Medical Center, Leiden, The Netherlands., Meuwissen ME; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium., Steggerda SJ; Department of Neonatology, Leiden University Medical Center, Leiden, The Netherlands., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Feb; Vol. 185 (2), pp. 571-574. Date of Electronic Publication: 2020 Nov 28.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease*, Cerebral Hemorrhage/*genetics , Collagen Type IV/*genetics, Cerebral Hemorrhage/diagnosis ; Cerebral Hemorrhage/diagnostic imaging ; Cerebral Hemorrhage/pathology ; Female ; Fetus/diagnostic imaging ; Fetus/pathology ; Gene Duplication/genetics ; Humans ; Infant, Newborn ; Male ; Mutation/genetics ; Phenotype ; Prenatal Diagnosis

المؤلفون: Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., van der Werf IM; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium., Innes AM; Alberta Children's Hospital Research Institute and Department of Medical Genetics, Cumming School of Medicine, University of Calgary, 2888 Shaganappi Trail NW, Calgary, AB, T3B 6A8, Canada., Afenjar A; Centre de Référence Déficiences Intellectuelles de Causes Rares, 75013, Paris, France.; APHP, GHUEP, Hôpital Armand Trousseau, Centre de Référence 'Malformations et maladies congénitales du cervelet', 75012, Paris, France., Agrawal PB; Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Anderson IJ; The University of Tennessee Genetics Center, Knoxville, TN, 37920, USA., Atwal PS; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, 32224, USA., van Binsbergen E; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., van den Boogaard MJ; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., Castiglia L; Laboratory of Medical Genetics, Oasi Research Institute, 94018, Troina, Italy., Coban-Akdemir ZH; Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., van Dijck A; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium., Doummar D; APHP, Service de Neurologie pédiatrique, Hôpital Armand Trousseau, Paris, France.; Sorbonne Université,GRC ConCer-LD, AP-HP, Hôpital Trousseau, Paris, France.; Service de neuropediatrie, Hôpital Trousseau, 26 avenue du dr Arnold Netter, 75012, Paris, France., van Eerde AM; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., van Essen AJ; Department of Genetics, University of Groningen, University Medical Center Groningen (UMCG), 9700 RB, Groningen, The Netherlands., van Gassen KL; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, 20877, USA., van Haelst MM; Department of Clinical Genetics, VU University Medical Center, 1081 HV, Amsterdam, The Netherlands., Iossifov I; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, NY, 11724, USA.; New York Genome Center, New York, NY, 10013, USA., Jackson JL; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, 32224, USA., Judd E; Department of Psychiatry, Washington University School of Medicine, St Louis, MO, 63110, USA., Kaiwar C; Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ, 85259, USA.; Invitae, 1400 16th Street, San Francisco, CA, 94103, USA., Keren B; Département de Génétique, APHP, GH Pitié-Salpêtrière, Paris, 75013, France., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA., Klein Wassink-Ruiter JS; Department of Genetics, University of Groningen, University Medical Center Groningen (UMCG), 9700 RB, Groningen, The Netherlands., Meuwissen ME; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium., Monaghan KG; GeneDx, Gaithersburg, MD, 20877, USA., de Munnik SA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Nava C; Département de Génétique, APHP, GH Pitié-Salpêtrière, Paris, 75013, France.; INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Université de Paris 06, 75013, Paris, France., Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Pettinato R; Pediatrics and Medical Genetics, Oasi Research Institute - IRCCS, 94018, Troina, Italy., Racher H; Alberta Children's Hospital Research Institute and Department of Medical Genetics, Cumming School of Medicine, University of Calgary, 2888 Shaganappi Trail NW, Calgary, AB, T3B 6A8, Canada.; Impact Genetics, 1100 Bennett Road, Bowmanville, ON, L1C 3K5, Canada., Rinne T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Romano C; Pediatrics and Medical Genetics, Oasi Research Institute - IRCCS, 94018, Troina, Italy., Sanders VR; Department of Pediatrics, Division of Genetics, Birth Defects and Metabolism, Ann and Robert H Lurie Children's Hospital of Chicago, 225 East Chicago Avenue, Chicago, IL, 60611, USA., Schnur RE; GeneDx, Gaithersburg, MD, 20877, USA., Smeets EJ; Department of Clinical Genetics, Maastricht University Medical Centre, Universiteitssingel 50, 9229 ER, Maastricht, The Netherlands., Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Centre, Universiteitssingel 50, 9229 ER, Maastricht, The Netherlands., Stray-Pedersen A; Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, 77030, USA.; Norwegian National Unit for Newborn Screening, Department of Pediatric and Adolescent Medicine, Oslo University Hospital, Pb 4950 Nydalen, 0424, Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, 0318, Oslo, Norway., Sweetser DA; Division of Medical Genetics, Massachusetts General Hospital for Children, Boston, MA, 02114, USA., Terhal PA; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710, Skien, Norway., VanNoy GE; Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA., de Vries PF; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Waxler JL; Division of Medical Genetics, Massachusetts General Hospital for Children, Boston, MA, 02114, USA., Willing M; Department of Pediatrics, Washington University School of Medicine, St Louis, MO, 63110, USA., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Veltman JA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Institute of Genetic Medicine, International Centre for Life, Newcastle University, Central Parkway, Newcastle, NE1 3BZ, UK., Kooy RF; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. bert.devries@radboudumc.nl.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2019 May; Vol. 27 (5), pp. 738-746. Date of Electronic Publication: 2019 Jan 24.

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

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Behavior* , Genetic Variation*, Abnormalities, Multiple/*genetics , F-Box Proteins/*genetics , Intellectual Disability/*genetics , Protein-Arginine N-Methyltransferases/*genetics, Gene Deletion ; Humans ; Syndrome

المؤلفون: Somers IV; Departments of aPediatrics bMedical Genetics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium., Wojciechowski M, Beckers S, Rooms L, Kooy F, Meuwissen ME

المصدر: Clinical dysmorphology [Clin Dysmorphol] 2016 Oct; Vol. 25 (4), pp. 167-73.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Duplication* , Chromosomes, Human, Pair 12* , Phenotype* , Trisomy*, Abnormalities, Multiple/*diagnosis , Abnormalities, Multiple/*genetics, Chromosome Banding ; Comparative Genomic Hybridization ; DNA Copy Number Variations ; Female ; Genetic Association Studies ; Humans ; Infant ; Polymorphism, Single Nucleotide

المؤلفون: Meuwissen ME; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands., Schot R; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands., Buta S; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY 10029 Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029 The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029., Oudesluijs G; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands., Tinschert S; Medical Faculty Carl Gustav Carus, Technical University of Dresden, 01069 Dresden, Germany Division of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria., Speer SD; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY 10029 Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029 The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029., Li Z; Institut Pasteur, Cytokine Signaling Unit, Centre National de la Recherche Scientifique URA 1961, INSERM U 1221, 75724, Paris, France., van Unen L; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands., Heijsman D; Department of Bioinformatics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands., Goldmann T; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY 10029., Lequin MH; Department of Radiology, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands., Kros JM; Department of Pathology, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands., Stam W; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands., Hermann M; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY 10029 Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029 The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029., Willemsen R; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands., Brouwer RW; Erasmus Center for Biomics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands., Van IJcken WF; Erasmus Center for Biomics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands., Martin-Fernandez M; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY 10029 Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029 The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029., de Coo I; Department of Child Neurology, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands., Dudink J; Department of Neonatology, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands., de Vries FA; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands., Bertoli Avella A; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands., Prinz M; Institute of Neuropathology and BIOSS Center for Biological Signaling Studies, University of Freiburg, 79085 Freiburg, Germany., Crow YJ; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, Necker Hospital, Paris Descartes University, 75015 Paris, France Manchester Centre for Genomic Medicine and Academic Health Science Centre, University of Manchester, Manchester M13 9PL, England, UK., Verheijen FW; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands., Pellegrini S; Institut Pasteur, Cytokine Signaling Unit, Centre National de la Recherche Scientifique URA 1961, INSERM U 1221, 75724, Paris, France., Bogunovic D; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY 10029 Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029 The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029 g.mancini@erasmusmc.nl Dusan.Bogunovic@mssm.edu., Mancini GM; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CE Rotterdam, the Netherlands g.mancini@erasmusmc.nl Dusan.Bogunovic@mssm.edu.

المصدر: The Journal of experimental medicine [J Exp Med] 2016 Jun 27; Vol. 213 (7), pp. 1163-74. Date of Electronic Publication: 2016 Jun 20.

نوع المنشور: Clinical Trial; Journal Article

بيانات الدورية: Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 2985109R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-9538 (Electronic) Linking ISSN: 00221007 NLM ISO Abbreviation: J Exp Med Subsets: MEDLINE

مواضيع طبية MeSH: Autoimmune Diseases of the Nervous System*/genetics , Autoimmune Diseases of the Nervous System*/immunology , Autoimmune Diseases of the Nervous System*/pathology , Calcinosis*/genetics , Calcinosis*/immunology , Calcinosis*/pathology , Immunity, Innate* , Nervous System Malformations*/genetics , Nervous System Malformations*/immunology , Nervous System Malformations*/pathology , Signal Transduction*/genetics , Signal Transduction*/immunology, Brain/*immunology , Endopeptidases/*deficiency , Interferon Type I/*immunology , Microglia/*immunology, Brain/pathology ; Endopeptidases/immunology ; Female ; Humans ; Interferon Type I/genetics ; Male ; Microglia/pathology ; Ubiquitin Thiolesterase

SCR Disease Name: Aicardi-Goutieres syndrome

المؤلفون: Meuwissen ME; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.; Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium., Halley DJ; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., Smit LS; Department of Neurology, Division of Pediatric Neurology, Child Neurology, Erasmus University Medical Center, Rotterdam, The Netherlands., Lequin MH; Department of Radiology, Erasmus University Medical Center, Rotterdam, The Netherlands., Cobben JM; Department of Pediatric Genetics, Academic Medical Center, Amsterdam, The Netherlands., de Coo R; Department of Neurology, Division of Pediatric Neurology, Child Neurology, Erasmus University Medical Center, Rotterdam, The Netherlands., van Harssel J; Department of Clinical Genetics, University Medical Center, University of Utrecht, Utrecht, The Netherlands., Sallevelt S; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Woldringh G; Department of Clinical Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands., van der Knaap MS; Department of Child Neurology, VU Medical Center, Amsterdam, The Netherlands., de Vries LS; Department of Neonatology, University Medical Center, University of Utrecht, Utrecht, The Netherlands., Mancini GM; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2015 Nov; Vol. 17 (11), pp. 843-53. Date of Electronic Publication: 2015 Feb 26.

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

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: Genetic Association Studies* , Mutation* , Phenotype*, Collagen Type IV/*genetics, Alleles ; Anterior Eye Segment/abnormalities ; Brain/pathology ; Cerebral Hemorrhage/diagnosis ; Cerebral Hemorrhage/genetics ; Cohort Studies ; Eye Abnormalities/diagnosis ; Eye Abnormalities/genetics ; Eye Diseases, Hereditary ; Family ; Gene Order ; Genetic Loci ; Genotype ; Humans ; Leukomalacia, Periventricular/diagnosis ; Leukomalacia, Periventricular/genetics ; Magnetic Resonance Imaging/methods ; Pedigree ; Porencephaly/diagnosis ; Porencephaly/genetics

SCR Disease Name: Axenfeld-Rieger syndrome

المؤلفون: Meuwissen ME; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., Lequin MH, Bindels-de Heus K, Bruggenwirth HT, Knapen MF, Dalinghaus M, de Coo R, van Bever Y, Winkelman BH, Mancini GM

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2013 Jun; Vol. 161A (6), pp. 1376-80. Date of Electronic Publication: 2013 Apr 23.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Actins/*genetics , Aortic Aneurysm, Thoracic/*genetics , Ductus Arteriosus, Patent/*genetics, Amino Acid Substitution ; Aortic Aneurysm, Thoracic/diagnostic imaging ; Aortic Aneurysm, Thoracic/surgery ; Cerebrovascular Disorders/diagnostic imaging ; Cerebrovascular Disorders/genetics ; Child, Preschool ; Corpus Callosum/diagnostic imaging ; Corpus Callosum/surgery ; Digestive System Abnormalities/genetics ; Ductus Arteriosus, Patent/diagnostic imaging ; Ductus Arteriosus, Patent/surgery ; Female ; Genetic Association Studies ; Genotype ; Heterozygote ; Humans ; Hypertension, Pulmonary ; Intestinal Volvulus/genetics ; Mutation, Missense ; Mydriasis/genetics ; Phenotype ; Radiography ; Retinal Vessels/pathology

SCR Disease Name: Volvulus Of Midgut

المؤلفون: Verbeek E; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., Meuwissen ME, Verheijen FW, Govaert PP, Licht DJ, Kuo DS, Poulton CJ, Schot R, Lequin MH, Dudink J, Halley DJ, de Coo RI, den Hollander JC, Oegema R, Gould DB, Mancini GM

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2012 Aug; Vol. 20 (8), pp. 844-51. Date of Electronic Publication: 2012 Feb 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease* , Mutation*, Brain Diseases/*genetics , Collagen Type IV/*genetics , Hemiplegia/*genetics , Intracranial Aneurysm/*genetics, Adolescent ; Adult ; Animals ; Apoptosis/genetics ; Base Sequence ; Basement Membrane/pathology ; Basement Membrane/ultrastructure ; Brain/pathology ; Brain Diseases/diagnosis ; Child ; Child, Preschool ; Collagen Type IV/deficiency ; Consanguinity ; Endoplasmic Reticulum Stress ; Exons ; Female ; Hemiplegia/diagnosis ; Heterozygote ; Humans ; Infant ; Intracranial Aneurysm/diagnosis ; Magnetic Resonance Imaging ; Male ; Mice ; Mice, Knockout ; Pedigree ; Porencephaly ; Skin/pathology ; Skin/ultrastructure ; Young Adult

المؤلفون: Meuwissen ME; Dept. of Clinical Genetics, Erasmus University Medical Center, Dr. Molewaterplein 50, Rotterdam, The Netherlands., Mancini GM

المصدر: European journal of medical genetics [Eur J Med Genet] 2012 May; Vol. 55 (5), pp. 323-31. Date of Electronic Publication: 2012 May 04.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Incontinentia Pigmenti/*pathology, Brain/abnormalities ; Brain/pathology ; Eye Abnormalities/epidemiology ; Humans ; Incidence ; Incontinentia Pigmenti/epidemiology ; Incontinentia Pigmenti/genetics ; Intellectual Disability/epidemiology ; Microcephaly/epidemiology ; Paralysis/epidemiology ; Phenotype ; Psychomotor Disorders/epidemiology ; Seizures/epidemiology