Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations

Author

WITSCH-BAUMGARTNER, M¹ ; SCHWENTNER, I.¹ ; GIROS, M⁵ ; KELLEY, R. I⁸ ; KRAJEWSKA-WALASEK, M⁹ ; MENZEL, J¹ ; MIETTINEN, T¹⁰ ; OGORELKOVA, M⁶ ; ROSSI, M¹¹ ; SCALA, I¹¹ ; SCHINZEL, A¹² ; SCHMIDT, K¹ ; GRUBER, M¹ ; SCHÖNITZER, D¹³ ; SEEMANOVA, E¹⁴ ; SPERLING, K¹⁵ ; SYRROU, M¹⁶ ; TALMUD, P. J¹⁷ ; WOLLNIK, B¹⁸ ; KRAWCZAK, M¹⁹ ; LABUDA, D²⁰ ; UTERMANN, G¹ ; BENLIAN, P² ; BERTRANPETIT, J³ ; BIETH, E⁴ ; CHEVY, F² ; CLUSELLAS, N⁵ ; ESTIVILL, X⁶ ; GASPARINI, G⁷
[1] Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University Innsbruck, Austria
[2] Biochimie -Biologie Moleculaire, INSERM U538, Hopital Saint Antoine, Paris, France
[3] Unitat de Biologia Evolutiva, Departament de Ciencies Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Spain
[4] Department de Genetique Medicale, Hopital Purpan, Toulouse, France
[5] Seccio de Citogenetica I Genetica Clinica, Errors Congenits del Metabolism, BGM, Hospital Clinic, Barcelona, Spain
[6] Genes and Disease Program, and CeGen Barcelona Genotyping Node, Center for Genomic Regulation (CRG), Barcelona, Spain
[7] Medical Genetics, Department of Reproductive Sciences and Development, IRCCS-Burlo-Garofolo, University of Trieste, Trieste, Italy
[8] Clinical Mass Spectrometry Laboratory, Kennedy Krieger Institute, Baltimore, Maryland, United States
[9] Department of Medical Genetics, the Children's Memorial Health Institute, Warsaw, Poland
[10] Biomedicum Helsinki, University Helsinki, Finland
[11] Department of Pediatrics, Federico II University, Naples, Italy
[12] Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
[13] Central Institute for Blood Transfusion and Immunology, Innsbruck, Austria
[14] Department of Clinical Genetics, Charles University Motol Hospital, Prague, Czech Republic
[15] Institute of Human Genetics, Charité, University Medicine Berlin, Berlin, Germany
[16] Cytogenetics Unit, Laboratory of General Biology, Medical School, University of loannina, Greece
[17] Department of Medicine, University College London, London, United Kingdom
[18] Center of Molecular Medicine Cologne (CMMC), Institute of Human Genetics, University Cologne, Cologne, Germany
[19] Institute of Medical Informatics and Statistics, Christian-Albrechts-University Kiel, Germany
[20] Centre de Recherche, Hopital Sainte Justine, Universite de Montreal, Quebec, Canada

Source

Journal of medical genetics. 2008, Vol 45, Num 4, pp 200-209, 10 p ; ref : 56

CODEN

JMDGAE

ISSN

0022-2593

Scientific domain

Genetics

Publisher

BMJ, London

Publication country

United Kingdom

Document type

Article

Language

English

Keyword (fr)

Age Cholestérol Européen Génétique Homme Lipide Mutation Nanisme de Smith-Lemli-Opitz Origine Population Europe Hypocholestérolémie Maladie héréditaire Maladie métabolique Malformation Pathologie de l'appareil digestif Pathologie du système nerveux Pathologie du système ostéoarticulaire Syndrome complexe

Keyword (en)

Age Cholesterol European Genetics Human Lipids Mutation Smith-Lemli-Opitz dwarfism Origin Population Europe Hypocholesterolemia Genetic disease Metabolic diseases Malformation Digestive diseases Nervous system diseases Diseases of the osteoarticular system Complex syndrome

Keyword (es)

Edad Colesterol Europeo Genética Hombre Lípido Mutación Enanismo Smith-Lemli-Opitz Origen Población Europa Hipocolesterolemia Enfermedad hereditaria Metabolismo patología Malformación Aparato digestivo patología Sistema nervioso patología Sistema osteoarticular patología Síndrome complejo

Classification

Pascal

002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology

Pascal

002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22A Disorders of blood lipids. Hyperlipoproteinemia

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling

Discipline

Eukaryotes genetics. Biological and molecular evolution Medical genetics Metabolic diseases Molecular and cell biology

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

20199737

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS