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
Evidence-Based Medicine: The Bilateral Cleft Lip Repair
TL;DR: This fourth Maintenance of Certification/Continuing Medical Education article on cleftlip focuses on the topic of bilateral cleft lip and describes the importance of preoperative management and surgical repair of the bilateral Cleft lip.
Journal ArticleDOI
Association between concentrations of barium and aluminum in placental tissues and risk for orofacial clefts
TL;DR: Maternal exposure to barium may increase the risk for OFCs in offspring, and there was a positive dose-response relationship between placental barium concentrations and OFC risk.
Journal ArticleDOI
Regional variation in prevalence of oral cleft live births in the Netherlands 1997-2007: time-trend analysis of data from three Dutch registries.
Anna M. Rozendaal,Ashna D. Mohangoo,Edwin M. Ongkosuwito,Simone Buitendijk,Marian K. Bakker,Christl Vermeij-Keers +5 more
TL;DR: The prevalence of OC live births varies significantly in the Netherlands, not only between but also within registries, which underlines that extrapolation of regional cleft data should be done with caution.
Journal ArticleDOI
Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants.
Clarice P. Savastano,Luciano Abreu Brito,Ágatha Cristhina Oliveira Faria,Núria Setó-Salvia,Emma Peskett,Camila Manso Musso,Lucas Alvizi,Suzana A. M. Ezquina,Chela James,GOSgene,Philip L. Beales,Melissa Lees,Gudrun E. Moore,Philip Stanier,Maria Rita Passos-Bueno +14 more
TL;DR: The data show that rare variants leading to haploinsufficiency of ARHGAP29 represent an important etiological clefting mechanism, and genetic testing for this gene might be taken into consideration in genetic counseling of familial cases.
Journal ArticleDOI
Overt cleft palate phenotype and TBX1 genotype correlations in velo‐cardio‐facial/DiGeorge/22q11.2 deletion syndrome patients
Sean Herman,Tingwei Guo,Donna M. McDonald McGinn,Anna Blonska,Anna Blonska,Alan L. Shanske,Anne S. Bassett,Eva W.C. Chow,Mark Bowser,Molly B. Sheridan,Frits A. Beemer,Koen Devriendt,Ann Swillen,Jeroen Breckpot,M. Cristina Digilio,Bruno Marino,Bruno Dallapiccola,Courtney Carpenter,Xin Zheng,Jacob Johnson,Jonathan H. Chung,Anne Marie Higgins,Nicole Philip,Tony J. Simon,Karlene Coleman,Damian Heine-Suñer,Jordi Rosell,Wendy R. Kates,Marcella Devoto,Elaine H. Zackai,Tao Wang,Robert J. Shprintzen,Beverly S. Emanuel,Bernice E. Morrow +33 more
TL;DR: This study indicates that common DNA variants in TBX1 may be nominally causative for CP in patients with 22q11DS, which raises the possibility that genes elsewhere on the remaining allele of 22q 11.2 or in the genome could be relevant.
References
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Retinoic Acid Embryopathy
TL;DR: It is possible that a major mechanism of isotretinoin teratogenesis is a deleterious effect on cephalic neural-crest cell activity that results in the observed craniofacial, cardiac, and thymic malformations.
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Women and smoking: a report of the Surgeon General.
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Apaf1 (CED-4 homolog) regulates programmed cell death in mammalian development.
TL;DR: It is suggested that Apaf1 is essential for Casp3 activation in embryonic brain and is a key regulator of developmental programmed cell death in mammals.
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Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.
Virginia Kimonis,Alisa M. Goldstein,B. Pastakia,Mu Yang,Ronald G. Kase,John J. DiGiovanna,Allen E. Bale,Sherri J. Bale +7 more
TL;DR: The frequency of the clinical and radiological anomalies in Nevoid basal cell carcinoma syndrome in a large population of US patients is delineated and guidelines for diagnosis and management are discussed.
Journal ArticleDOI
Transforming growth factor-β3 is required for secondary palate fusion
Gabriele Proetzel,Sharon A. Pawlowski,Michael V. Wiles,Moying Yin,Gregory P. Boivin,Philip N. Howles,Jixang Ding,Mark W. J. Ferguson,Thomas Doetschman +8 more
TL;DR: This result demonstrates that TGF–β3 affects palatal shelf fusion by an intrinsic, primary mechanism rather than by effects secondary to craniofacial defects.
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