Journal ArticleDOI
Cleft lip and palate
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TLDR
Prevention is the ultimate objective for clefts of the lip and palate, and a prerequisite of this aim is to elucidate causes of the disorders.About:
This article is published in The Lancet.The article was published on 2009-11-21. It has received 1344 citations till now. The article focuses on the topics: Oral cleft & IRF6.read more
Citations
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Journal ArticleDOI
Cleft lip and palate: understanding genetic and environmental influences.
TL;DR: Using a combination of epidemiology, careful phenotyping, genome-wide association studies and analysis of animal models, several distinct genetic and environmental risk factors have been identified and confirmed for non-syndromic CLP.
Journal ArticleDOI
Genome-wide Association Studies Prospects and Challenges for Oral Health
TL;DR: The issues surrounding the genome-wide association study approach are discussed with emphasis on the prospects and challenges relevant to the oral health research community.
Journal ArticleDOI
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
Terri H. Beaty,Jeffrey C. Murray,Mary L. Marazita,Ronald G. Munger,Ingo Ruczinski,Jacqueline B. Hetmanski,Kung Yee Liang,Tao Wu,Tao Wu,Tanda Murray,M. Daniele Fallin,Richard A. Redett,Gerald V. Raymond,Holger Schwender,Sheng Chih Jin,Margaret E. Cooper,Martine Dunnwald,Maria A. Mansilla,Elizabeth J. Leslie,Stephen Bullard,Andrew C. Lidral,Lina M. Moreno,Renato Menezes,Alexandre R. Vieira,Aline Petrin,Allen J. Wilcox,Rolv T. Lie,Ethylin Wang Jabs,Ethylin Wang Jabs,Yah Huei Wu-Chou,Philip Kuo Ting Chen,Hong Wang,Xiaoqian Ye,Xiaoqian Ye,Shangzhi Huang,Vincent Yeow,Samuel S. Chong,Sun Ha Jee,Bing Shi,Kaare Christensen,Mads Melbye,Kimberly F. Doheny,Elizabeth W. Pugh,Hua Ling,Eduardo E. Castilla,Andrew E. Czeizel,Lian Ma,L. Leigh Field,Lawrence C. Brody,Faith Pangilinan,James L. Mills,Anne M. Molloy,Peadar N. Kirke,James M. Scott,Mauricio Arcos-Burgos,Alan F. Scott +55 more
TL;DR: In this paper, case-parent trios were used in a genome-wide association study of cleft lip with and without cleft palate, and two previously identified regions (at chromosome 8q24 and IRF6) attained genomewide significance.
Book ChapterDOI
Epidemiology of oral clefts 2012: an international perspective.
TL;DR: This chapter is set out in three parts and seeks to address all three of the above areas: Birth defects in general and orofacial clefting in particular, access to care and evidence base.
Journal ArticleDOI
Bone regeneration and stem cells
Kristina Arvidson,Basem M. Abdallah,Lee Ann Applegate,Nicola Baldini,Elisabetta Cenni,Enrique Gómez-Barrena,Donatella Granchi,Moustapha Kassem,Moustapha Kassem,Yrjö T. Konttinen,Kamal Ahmed Mustafa,Dominique P. Pioletti,Dominique P. Pioletti,Tarvo Sillat,Anna Finne-Wistrand +14 more
TL;DR: Embryonic, foetal and adult stem cells in osteogenesis, specific features of bone cells needed to be advantageous for clinical use, and the development of therapeutic biological agents.
References
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Journal ArticleDOI
Teratogenicity of High Vitamin A Intake
Kenneth J. Rothman,Lynn L. Moore,Martha R. Singer,Uyen-Sa D. T. Nguyen,Salvatore Mannino,Aubrey Milunsky +5 more
TL;DR: Of the 22,748 pregnant women identified between October 1984 and June 1987, 339 had babies with birth defects; 121 of these babies had defects occurring in sites that originated in the cranial neural crest.
Journal ArticleDOI
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.
Theresa M. Zucchero,Margaret E. Cooper,Brion S. Maher,Sandra Daack-Hirsch,Buena Nepomuceno,Lucilene Arilho Ribeiro,Diana Caprau,Kaare Christensen,Yasushi Suzuki,Junichiro Machida,Nagato Natsume,Koh-ichiro Yoshiura,Alexandre R. Vieira,Iêda M. Orioli,Eduardo E. Castilla,Lina M. Moreno,Mauricio Arcos-Burgos,Andrew C. Lidral,L. Leigh Field,You E. Liu,Ajit Kisor Ray,Toby H Goldstein,R. E. Schultz,Min Shi,Marla K. Johnson,Shinji Kondo,Brian C. Schutte,Mary L. Marazita,Jeffrey C. Murray,Jeffrey C. Murray +29 more
TL;DR: DNA-sequence variants associated with IRF6 are major contributors to cleft lip, with or without cleft palate; moreover, the results for some individual populations from South America and Asia were highly significant.
Journal ArticleDOI
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans.
TL;DR: A Dutch family with tooth agenesis and various combinations of cleft palate only and cleft lip and clefts palate showed a nonsense mutation (Ser104stop) in exon 1 of MSX1 that is similar to that of the Msx1-mutant mouse.
Journal ArticleDOI
Risks of orofacial clefts in children born to women using multivitamins containing folic acid periconceptionally
TL;DR: Women who used multivitamins containing folic acid periconceptionally had a 25-50% reduction in risk for offspring with orofacial clefts compared to women who did not use such vitamins.
Journal ArticleDOI
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
Stefanie Birnbaum,Stefanie Birnbaum,Kerstin U. Ludwig,Heiko Reutter,Stefan Herms,Michael Steffens,Michele Rubini,Carlotta Baluardo,Melissa Ferrian,Nilma Almeida de Assis,Margrieta A. Alblas,Sandra Barth,Jan Freudenberg,Carola Lauster,Gül Schmidt,Martin Scheer,Bert Braumann,Stefaan J. Bergé,Rudolf H. Reich,Franziska Schiefke,Alexander Hemprich,Simone Pötzsch,Régine P.M. Steegers-Theunissen,Bernd Pötzsch,Susanne Moebus,Bernhard Horsthemke,Franz-Josef Kramer,Thomas F. Wienker,Peter A. Mossey,Peter Propping,Sven Cichon,Per Hoffmann,Michael Knapp,Markus M. Nöthen,Elisabeth Mangold +34 more
TL;DR: A 640-kb region at chromosome 8q24.21 was found to contain multiple markers with highly significant evidence for association with the cleft phenotype, including three markers that reached genome-wide significance.
Related Papers (5)
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
Terri H. Beaty,Jeffrey C. Murray,Mary L. Marazita,Ronald G. Munger,Ingo Ruczinski,Jacqueline B. Hetmanski,Kung Yee Liang,Tao Wu,Tao Wu,Tanda Murray,M. Daniele Fallin,Richard A. Redett,Gerald V. Raymond,Holger Schwender,Sheng Chih Jin,Margaret E. Cooper,Martine Dunnwald,Maria A. Mansilla,Elizabeth J. Leslie,Stephen Bullard,Andrew C. Lidral,Lina M. Moreno,Renato Menezes,Alexandre R. Vieira,Aline Petrin,Allen J. Wilcox,Rolv T. Lie,Ethylin Wang Jabs,Ethylin Wang Jabs,Yah Huei Wu-Chou,Philip Kuo Ting Chen,Hong Wang,Xiaoqian Ye,Xiaoqian Ye,Shangzhi Huang,Vincent Yeow,Samuel S. Chong,Sun Ha Jee,Bing Shi,Kaare Christensen,Mads Melbye,Kimberly F. Doheny,Elizabeth W. Pugh,Hua Ling,Eduardo E. Castilla,Andrew E. Czeizel,Lian Ma,L. Leigh Field,Lawrence C. Brody,Faith Pangilinan,James L. Mills,Anne M. Molloy,Peadar N. Kirke,James M. Scott,Mauricio Arcos-Burgos,Alan F. Scott +55 more
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
Stefanie Birnbaum,Stefanie Birnbaum,Kerstin U. Ludwig,Heiko Reutter,Stefan Herms,Michael Steffens,Michele Rubini,Carlotta Baluardo,Melissa Ferrian,Nilma Almeida de Assis,Margrieta A. Alblas,Sandra Barth,Jan Freudenberg,Carola Lauster,Gül Schmidt,Martin Scheer,Bert Braumann,Stefaan J. Bergé,Rudolf H. Reich,Franziska Schiefke,Alexander Hemprich,Simone Pötzsch,Régine P.M. Steegers-Theunissen,Bernd Pötzsch,Susanne Moebus,Bernhard Horsthemke,Franz-Josef Kramer,Thomas F. Wienker,Peter A. Mossey,Peter Propping,Sven Cichon,Per Hoffmann,Michael Knapp,Markus M. Nöthen,Elisabeth Mangold +34 more
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate
Elisabeth Mangold,Kerstin U. Ludwig,Stefanie Birnbaum,Carlotta Baluardo,Melissa Ferrian,Stefan Herms,Heiko Reutter,Nilma Almeida de Assis,Taofik Al Chawa,Manuel Mattheisen,Michael Steffens,Sandra Barth,Nadine Kluck,Anna Paul,Jessica Becker,Carola Lauster,Gül Schmidt,Bert Braumann,Martin Scheer,Rudolf H. Reich,Alexander Hemprich,Simone Pötzsch,Bettina Blaumeiser,Susanne Moebus,Michael Krawczak,Stefan Schreiber,Thomas Meitinger,Hans Erich Wichmann,Régine P.M. Steegers-Theunissen,Franz Josef Kramer,Sven Cichon,Peter Propping,Thomas F. Wienker,Michael Knapp,Michele Rubini,Peter A. Mossey,Per Hoffmann,Markus M. Nöthen +37 more