KRANİYOFASİYAL YARIKLAR

Kaynak Yayınlar

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  • Gorlin RJ, Cohen MM Jr, Hennekam RC. Syndromes of the Head and Neck. 4th ed., Oxford University Press, New York, 2001

  • Cohen MM Jr. Malformations of the Craniofacial Region: Evolutionary, Embryonic, Genetic, and Clinical Perspectives. American Journal of Medical Genetics (Seminars in Medical Genetics), 115:245-268, 2002

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  • DeLuke DM, Haug RH. Syndromes of the Head and Neck. Elsevier, Philadelphia, 2014

  • Burg ML, Chai Y, Yao CA, et al. Epidemiology, Etiology, and Treatment of Isolated Cleft Palate, Frontiers in Physiology, 7: 67, 01 March 2016

  • Goizet C, Bonneau D, Lacombe D. W syndrome: report of three cases and review. American Journal of Medical Genetics, 87: 446-449, 1999

  • Scapoli L, Martinelli M, Pezzetti F, et al. Linkage disequilibrium between GABRB3 gene and nonsyndromic familial cleft lip with or without cleft palate. Human Genetics, 110: 15-20, 2002

  • Barrow LL, van Bokhoven H, Daack-Hirsch S, et al. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. Journal of Medical Genetics, 2002;39:559–566, 2002

  • Blanton SH, Bertin T, Serna ME, et al. Association of chromosomal regions 3p21.2, 10p13, and 16p13.3 with nonsyndromic cleft lip and palate. American Journal of Medical Genetics,125A: 23-27, 2004

  • Balcı, S, Akcan B, Vargel I, et al. Familial syndrome of unusual triangular facies associated with cleft palate, malocclusion, midfacial hypoplasia and sensorineural hearing loss in two siblings: is it a new autosomal recessive syndrome? Clinical Dysmorphology, 13: 71-74, 2004

  • Elliott AM, Evans JA. Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients. American Journal of Medical Genetics, 140A: 1419-1427, 2006

  • Beaty TH, Ruczinski I, Murray JC, et al. Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate. Genetic Epidemiology, 35, 469-478, 2011

  • Dixon MJ, Marazita ML, Beaty TH, Murray JC. Cleft lip and palate: Understanding genetic and environmental influences. Nature Reviews Genetics, 12:167-178, 2011

  • Stanier P, Moore GE. Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts. Human Molecular Genetics, 13 (Spec. No 1): R73–R81, 2004

  • Mooney MP, Siegel MI. Understanding Craniofacial Anomalies: The Etiopathogenesis of Craniosynostoses and Facial Clefting. Wiley-Liss, New York, 2002

  • Ahmed MK, Ye X, Taub PJ. Review of the genetic basis of jaw malformations. Journal of Pediatric Genetics, 5(4):209-219, 2016

  • Carstens MH. Development of the facial midline. The Journal of Craniofacial Surgery. 13(1):129-187, 2002

  • Rinne T, Brunner HG, van Bokhoven H. p63-associated disorders. Cell Cycle, 6:262–268, 2007

  • Neiswanger K, Weinberg SM, Rogers CR, et al. Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate. American Journal of Medical Genetics A,143A: 1143-1149, 2007

  • Shi M, Christensen K, Weinberg CR, et al. Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants. American Journal of Human Genetics, 80: 76-90, 2007

  • Chiquet, B. T., Blanton, S. H., Burt, A., Ma, D., Stal, S., Mulliken, J. B., Hecht, J. T. Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate. Human Molecular Genetics, 17: 2212-2218, 2008

  • Moreno LM, Mansilla MA, Bullard SA, et al. FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate. Human Molecular Genetics, 18: 4879-4896, 2009

  • Sutton VR, van Bokhoven H. TP63-related disorders, In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. University of Washington, Seattle;  2010

  • Ghassibe-Sabbagh M, Desmyter L, Langenberg T, et al. FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish. American Journal of Human Genetics, 88: 150-161, 2011

  • Baratela WAR, Bober MB, Tiller GE, et al. A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay. American Journal of Medical Genetics,158A: 1815-1822, 2012

  • Andreoletti G, Seaby EG, Dewing JM, et al. AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. Journal of Medical Genetics, 54: 269-277, 2017