Identification of mutations in CUL7 in 3-M syndrome

Author

HUBER, Céline¹ ; DIAS-SANTAGATA, Dora² ; DAGONEAU, Nathalie¹ ; CHEMAITILLY, Wassim¹ ; SUPERTI-FURGA, Andrea⁸ ; DOS SANTOS, Heloisa⁹ ; MEGARBANE, André¹⁰ ; MORIN, Gilles¹¹ ; GILLESSEN-KAESBACH, Gabriele¹² ; HENNEKAM, Raoul³ ; VAN DER BURGT, Ineke¹³ ; BLACK, Graeme C. M⁴ ; GLASER, Anna³ ; CLAYTON, Peter E¹⁴ ; READ, Andrew⁴ ; LE MERRER, Martine¹ ; SCAMBLER, Peter J³ ; MUNNICH, Arnold¹ ; PAN, Zhen-Qiang² ; WINTER, Robin³ ; CORMIER-DAIRE, Valérie¹ ; O'SULLIVAN, James⁴ ; BRAUNER, Raja⁵ ; WU, Kenneth² ; XINSONG XU² ; PEARCE, Kerra³ ; RONG WANG⁶ ; GIOVANNUCCI UZIELLI, Maria Luisa⁷
[1] Umverslté Paris-Descartes, Faculté de Médecine, INSERM, AP-HP, Hôpital Necker Enfants Malades, U393 and Department of Medical Genetics, 149 rue de Sevres, 75015, Paris, France
[2] Department of Oncological Sciences, The Mount Sinai School of Medicine, New York, New York, United States
[3] Genes, Development and Disease Theme, Institute of Child Health, London WC1N 1EH, United Kingdom
[4] Department of Clinical Genetics, Central Manchester and Manchester Children's, University Hospitals NHS Trust, St. Mary's Hospital, Manchester, M13 0JH, United Kingdom
[5] Pediatric Endocrinology Unit, CHU Bicêtre, 94275 Le Kremlin Bicêtre, France
[6] Department of Human Genetics, The Mount Sinai School of Medicine, New York, New York 10029-6574, United States
[7] Genetics and Molecular Medicine Unit, Department of Paediatrics, University of Florence, Florence, Italy
[8] Division of Molecular Pediatrics, Centre Hospitaller Universitaire Vaudois, 1011 Lausanne, Switzerland
[9] Medical Genetics Service, Hospital Sta. Maria, Lisboa, Portugal
[10] Unité de Génétique Médicale, Université Saint Joseph, Beirut, Lebanon
[11] Clinical Genetics Unit, Department of Paediatrics, Amiens University Hospital, Amiens, France
[12] Institut fur Humangenetik, Universitat Essen, 55, 45122 Essen, Germany
[13] University Medical Center Nijmegen, Department of Human Genetics 417, 6525GA Nijmegen, Netherlands
[14] Endocnne Science Research Group, University of Manchester, Manchester M13 9PT, United Kingdom

Source

Nature genetics. 2005, Vol 37, Num 10, pp 1119-1124, 6 p ; ref : 16 ref

CODEN

NGENEC

ISSN

1061-4036

Scientific domain

Genetics

Publisher

Nature Publishing Group, London

Publication country

United Kingdom

Document type

Article

Language

English

Keyword (fr)

Identification Mutation Syndrome

Keyword (en)

Identification Mutation Syndrome

Keyword (es)

Identificación Mutación Síndrome

Classification

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 / 002B23 Medical genetics / 002B23E Complex syndromes

Discipline

Eukaryotes genetics. Biological and molecular evolution Medical genetics

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

17252402

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