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whole lip defect相关文献:
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.
PMID:34083042
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC.
Orphanet J Rare Dis. 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42.
PMID:17958891
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.
PMID:35817949
Analysis of candidate genes for cleft lip cleft palate using murine single-cell expression data.
Siewert A, Reiz B, Krug C, Heggemann J, Mangold E, Dickten H, Ludwig KU.
Front Cell Dev Biol. 2023 Apr 24;11:1091666. doi: 10.3389/fcell.2023.1091666. eCollection 2023.
PMID:37169019
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.
PMID:36210532
Simpson-Golabi-Behmel Syndrome Type 1.
Nisbet AF, Hathaway ER, Kalish JM.
2006 Dec 19 [updated 2024 Nov 14]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:20301398
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.
PMID:36322204
Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole-exome sequencing.
Biedziak B, Dąbrowska J, Szponar-Żurowska A, Bukowska-Olech E, Jamsheer A, Mojs E, Mulle J, Płoski R, Mostowska A.
Am J Med Genet A. 2023 Jan;191(1):205-219. doi: 10.1002/ajmg.a.63015. Epub 2022 Nov 1.
PMID:36317839
Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants.
Nishi E, Yanagi K, Kaname T, Okamoto N.
Mol Genet Genomic Med. 2024 Feb;12(2):e2396. doi: 10.1002/mgg3.2396.
PMID:38353053
Whole-genome sequencing in a pair of monozygotic twins with discordant cleft lip and palate subtypes.
Takahashi M, Hosomichi K, Yamaguchi T, Nagahama R, Yoshida H, Maki K, Marazita ML, Weinberg SM, Tajima A.
Oral Dis. 2018 Oct;24(7):1303-1309. doi: 10.1111/odi.12910. Epub 2018 Jul 10.
PMID:29873870
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