Orofacial clefts embryology, classification, epidemiology, and genetics.
Nasreddine G, El Hajj J, Ghassibe-Sabbagh M.
Mutat Res Rev Mutat Res. 2021 Jan-Jun;787:108373. doi: 10.1016/j.mrrev.2021.108373. Epub 2021 Feb 28.
Genetics of cleft lip and cleft palate.
Leslie EJ, Marazita ML.
Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):246-58. doi: 10.1002/ajmg.c.31381. Epub 2013 Oct 4.
Simpson-Golabi-Behmel Syndrome Type 1.
Klein SD, Nisbet AF, Hathaway ER, Kalish JM.
2006 Dec 19 [updated 2023 Dec 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC.
Orphanet J Rare Dis. 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42.
DNA methylation profile of lip tissue from congenital nonsyndromic cleft lip and palate patients by whole-genome bisulfite sequencing.
Zhang B, Zhang Y, Wu S, Ma D, Ma J.
Birth Defects Res. 2023 Jan 15;115(2):205-217. doi: 10.1002/bdr2.2102. Epub 2022 Oct 9.
Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate.
Awotoye W, Mossey PA, Hetmanski JB, Gowans LJJ, Eshete MA, Adeyemo WL, Alade A, Zeng E, Adamson O, Naicker T, Anand D, Adeleke C, Busch T, Li M, Petrin A, Aregbesola BS, Braimah RO, Oginni FO, Oladele AO, Oladayo A, Kayali S, Olotu J, Hassan M, Pape J, Donkor P, Arthur FKN, Obiri-Yeboah S, Sabbah DK, Agbenorku P, Plange-Rhule G, Oti AA, Gogal RA, Beaty TH, Taub M, Marazita ML, Schnieders MJ, Lachke SA, Adeyemo AA, Murray JC, Butali A.
Sci Rep. 2022 Jul 11;12(1):11743. doi: 10.1038/s41598-022-15885-1.
Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum.
Atique Tacla M, de Mello Copelli M, Pairet E, Monlleó IL, Ribeiro EM, Lustosa Mendes E, Helaers R, Vieira TP, Vikkula M, Gil-da-Silva-Lopes VL.
Eur J Hum Genet. 2023 Nov 6. doi: 10.1038/s41431-023-01488-5. Online ahead of print.
Using whole exome sequencing to identify susceptibility genes associated with nonsyndromic cleft lip with or without cleft palate.
Fu Z, Yue J, Xue L, Xu Y, Ding Q, Xiao W.
Mol Genet Genomics. 2023 Jan;298(1):107-118. doi: 10.1007/s00438-022-01967-2. Epub 2022 Nov 2.
Exome sequencing improves genetic diagnosis of congenital orofacial clefts.
Yan S, Fu F, Li R, Yu Q, Li F, Zhou H, Wang Y, Huang R, Ma C, Guo F, Wang D, Yang X, Han J, Lei T, Li D, Liao C.
Front Genet. 2023 Sep 7;14:1252823. doi: 10.3389/fgene.2023.1252823. eCollection 2023.
[Growth of maxillo-facial region and related anomalies.].
Suda N.
Clin Calcium. 2017;27(10):1357-1362.
