Author | Huber, Céline | |
Author | Delezoide, Anee-Lise | |
Author | Guimiot, Fabien | |
Author | Baumann, Clarisse | |
Author | Malan, Valérie | |
Author | Merrer, Martine Le | |
Author | Silva, Daniela Bezerra Da | |
Author | Bonneau, Dominique | |
Author | Chatelain, Pierre | |
Author | Chu, Carol | |
Author | Clark, Robin | |
Author | Cox, Helen | |
Author | Edery, Patrick | |
Author | Edouard, Thomas | |
Author | Fano, Virginia | |
Author | Gibson, Kate | |
Author | Gillessen-Kaesbach, Gabriele | |
Author | Giovannucci-Uzielli, Maria-Luisa | |
Author | Graul-Neumann, Luitgard Margarete | |
Author | Hagen, Johana-Maria van | |
Author | Hest, Liselot van | |
Author | Horovitz, Dafne Dain Gandelman | |
Author | Melki, Judith | |
Author | Partsch, Carl-Joachim | |
Author | Plauchu, Henry | |
Author | Rajab, Anna | |
Author | Rossi, Massimiliano | |
Author | Sillence, David | |
Author | Steichen-Gersdorf, Elisabeth | |
Author | Stewart, Helen | |
Author | Unger, Sheila | |
Author | Zenker, Martin | |
Author | Munnich, Arnold | |
Author | Cormier-Daire, Valérie | |
Access date | 2015-10-09T14:36:06Z | |
Available date | 2015-10-09T14:36:06Z | |
Document date | 2009 | |
Citation | HUBER, Céline et al. A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. European journal of human genetics, London, v. 17, p. 395-400, 2009. | pt_BR |
ISSN | 1018-4813 | |
URI | https://www.arca.fiocruz.br/handle/icict/11925 | |
Language | eng | pt_BR |
Publisher | Nature Publishing Group | pt_BR |
Rights | restricted access | pt_BR |
Title | A large-scale mutation search reveals genetic heterogeneity in 3M syndrome | pt_BR |
Type | Article | pt_BR |
DOI | 10.1038/ejhg.2008.200 | pt_BR |
Abstract | The 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in the CUL7 gene and characterized by severe pre- and postnatal growth retardation. Studying a series of 33 novel cases of 3M syndrome, we have identified deleterious CUL7 mutations in 23/33 patients, including 19 novel mutations and one paternal isodisomy of chromosome 6 encompassing a CUL7 mutation. Lack of mutations in 10/33 cases and exclusion of the CUL7 locus on chromosome 6p21.1 in six consanguineous families strongly support the genetic heterogeneity of the 3M syndrome. | pt_BR |
Affilliation | Université Paris Descartes. Department of Genetics. Paris, France / Hôpital Necker Enfants Malades, Paris, France. | pt_BR |
Affilliation | Université Paris Diderot. Department of Developmental Biology. Paris, France. | pt_BR |
Affilliation | Université Paris Diderot. Department of Developmental Biology. Paris, France. | pt_BR |
Affilliation | Hôpital Robert Debre. Department of Genetics. Paris, France. | pt_BR |
Affilliation | Université Paris Descartes. Department of Genetics. Paris, France / Hôpital Necker Enfants Malades, Paris, France. | pt_BR |
Affilliation | Université Paris Descartes. Department of Genetics. Paris, France / Hôpital Necker Enfants Malades, Paris, France. | pt_BR |
Affilliation | Centre Hospitalier Universitaire Sainte-Justine. Service de génétique. Montreal, Canada. | pt_BR |
Affilliation | Centre Hospitalier Universitaire Sainte-Justine. Department of Biochemistry. Medical Genetics. Angers, France | pt_BR |
Affilliation | Hopital Debrousse. Service d’endocrinologie. Lyon, France. | pt_BR |
Affilliation | Hospitals Trust. Yorkshire Regional Genetic Service. Leeds Teaching. Leeds, UK. | pt_BR |
Affilliation | Loma Linda School of Medicine. Division of Clinical Genetics. Department of Pediatrics. Loma Linda, USA. | pt_BR |
Affilliation | Birmingham Women’s Hospital. West Midlands Regional Clinical Genetics Service. Clinical Genetics Unit. Birmingham, UK. | pt_BR |
Affilliation | Hospices Civils de Lyon. Service de Cytogénétique Constitutionnelle. Lyon, France. | pt_BR |
Affilliation | Hopital Purpan. Service d’Endocrinologie Pédiatrique. Toulouse, France. | pt_BR |
Affilliation | Hospital JP Garrahan, Combate de los Pozos 1881. Buenos Aires, Argentina. | pt_BR |
Affilliation | Royal Children’s Hospital. Genetic Health Queensland. Brisbane, Australia. | pt_BR |
Affilliation | Universität zu Lübeck. Institut für Humangenetik. Lübeck, Germany. | pt_BR |
Affilliation | University of Florence. Genetics and Molecular Medicine. Department of Paediatrics. Firenze, Italy. | pt_BR |
Affilliation | Institute of Human Genetics. Charité. Campus Virchow-Klinikum. Berlin, Germany. | pt_BR |
Affilliation | VU University Medical Centre. Department of Clinical Genetics. Amsterdam, The Netherlands. | pt_BR |
Affilliation | VU University Medical Centre. Department of Clinical Genetics. Amsterdam, The Netherlands. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Centro de Genética Médica. Rio de Janeiro. RJ, Brasil. | pt_BR |
Affilliation | Hadassah University Hospital. Department of Human Genetics. Jerusalem, Israel. | pt_BR |
Affilliation | Klinik für Kinder und Jugendliche. Städtische Kliniken Esslingen.Esslingen, Germany. | pt_BR |
Affilliation | Hôpital de l’Hôtel-Dieu. Service de Génétique. Lyon, France. | pt_BR |
Affilliation | Royal Hospital, Goverment of Muscat. Oman, UAE. | pt_BR |
Affilliation | Federico II University. Department of Pediatrics. Naples, Italy. | pt_BR |
Affilliation | The Children’s Hospital at Westmead Clinical School. Discipline of Genetic Medicine. Westmead, Australia. | pt_BR |
Affilliation | Universitätsklinik für Kinder-und Jugendheilkunde. Innsbruck, Austria. | pt_BR |
Affilliation | Churchill Hospital. Department of Clinical Genetics. Oxford, UK. | pt_BR |
Affilliation | Institute of Human Genetics. Freiburg, Germany. | pt_BR |
Affilliation | University of Erlangen-Nuremberg. University Hospital. Institute of Human Genetics. Erlangen, Germany. | pt_BR |
Affilliation | Université Paris Descartes. Department of Genetics. Paris, France / Hôpital Necker Enfants Malades, Paris, France. | pt_BR |
Subject | CUL7 | pt_BR |
Subject | Paternal Isodisomy of Chromosome 6 | pt_BR |
Subject | Genetic Heterogeneity of 3M Syndrome | pt_BR |
DeCS | Cromossomos Humanos Par 6 | pt_BR |
DeCS | Heterogeneidade Genética | pt_BR |