A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

Author

JUSTICE, Cristina M¹ ; YAGNIK, Garima² ; KIMONIS, Virginia⁵ ; ROSCIOLI, Tony⁶ ; WALL, Steven A⁷ ; WILKIE, Andrew O. M^{7 8} ; STOLER, Joan⁹ ; RICHTSMEIER, Joan T¹⁰ ; HEUZE, Yann¹⁰ ; SANCHEZ-LARA, Pedro A¹¹ ; BUCKLEY, Michael F¹² ; DRUSCHEL, Charlotte M¹³ ; KIM, Yoonhee¹ ; MILLS, James L¹⁴ ; CAGGANA, Michele¹⁵ ; ROMITTI, Paul A¹⁶ ; KAY, Denise M¹⁵ ; SENDERS, Craig¹⁷ ; TAUB, Peter J¹⁸ ; KLEIN, Ophir D^{19 20 21} ; BOGGAN, James²² ; ZWIENENBERG-LEE, Marike²² ; NAYDENOV, Cyrill²³ ; PETER, Inga³ ; KIM, Jinoh² ; WILSON, Alexander F¹ ; BOYADJIEV, Simeon A² ; WANG JABS, Ethylin³ ; ERAZO, Monica³ ; XIAOQIAN YE³ ; AINEHSAZAN, Edmond³ ; LISONG SHI³ ; CUNNINGHAM, Michael L⁴
[1] Genometrics Section, Inherited Disease Research Branch, Division of Intramural Research, National Human Genome Research Institute, US National Institutes of Health (NIH), Baltimore, Maryland, United States
[2] Section of Genetics, Department of Pediatrics, University of California Davis, Sacramento, California, United States
[3] Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, United States
[4] Department of Pediatrics, Division of Craniofacial Medicine, University of Washington and Seattle Children's Research Institute, Seattle, Washington, United States
[5] Department of Pediatrics, Division of Genetics, University of California Irvine, Irvine, California, United States
[6] School of Women's and Children's Health, Sydney Children's Hospital, University of New South Wales, Sydney, New South Wales, Australia
[7] Craniofacial Unit, Oxford University Hospitals National Health Service Trust, John Radcliffe Hospital, Oxford, United Kingdom
[8] Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom
[9] Division of Genetics, Children's Hospital Boston, Harvard University, Boston, Massachusetts, United States
[10] Department of Anthropology, Pennsylvania State University, University Park, Pennsylvania, United States
[11] Department of Pathology and Pediatrics, Children's Hospital Los Angeles, University of Southern California, Los Angeles, California, United States
[12] Department of Haematology and Genetics, South Eastern Area Laboratory Services, Sydney, New South Wales, Australia
[13] Congenital Malformations Registry, New York State Department of Health, Albany, New York, United States
[14] Division of Epidemiology, Statistics and Prevention Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Department of Health and Human Services, Bethesda, Maryland, United States
[15] Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, United States
[16] Department of Epidemiology, College of Public Health, University of Iowa, Iowa City, Iowa, United States
[17] Department of Otolaryngology, University of California Davis, Sacramento, California, United States
[18] Division of Plastic and Reconstructive Surgery, Kravis Children's Hospital, Mount Sinai Medical Center, New York, New York, United States
[19] Department of Orofacial Sciences, University of California San Francisco, San Francisco, California, United States
[20] Department of Pediatrics, University of California San Francisco, San Francisco, California, United States
[21] Program in Craniofacial and Mesenchymal Biology, University of California San Francisco, San Francisco, California, United States
[22] Department of Neurological Surgery, University of California Davis, Sacramento, California, United States
[23] Department of Chemistry and Biochemistry, Medical University, Sofia, Bulgaria

Source

Nature genetics. 2012, Vol 44, Num 12, pp 1360-1364, 5 p ; ref : 52 ref

CODEN

NGENEC

ISSN

1061-4036

Scientific domain

Genetics

Publisher

Nature Publishing Group, New York, NY

Publication country

United States

Document type

Article

Language

English

Keyword (fr)

Crâniosynostose Identification Locus Association génétique Echelle du génome Dysostose Pathologie du crâne Pathologie du système nerveux Pathologie du système ostéoarticulaire

Keyword (en)

Craniosynostosis Identification Locus Dysostosis Skull disease Nervous system diseases Diseases of the osteoarticular system

Keyword (es)

Craneosinóstosis Identificación Locus Disostosis Cráneo patología Sistema nervioso patología Sistema osteoarticular patología

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 / 002B15 Diseases of the osteoarticular system / 002B15H Malformations and congenital and or hereditary diseases involving bones. Joint deformations

Discipline

Eukaryotes genetics. Biological and molecular evolution Osteoarticular pathology

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

26701584

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