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Quoted phrase not found in phrase index: "Mendelian syndromes with cleft lip/palate"
Page 1
Cleft lip and palate: understanding genetic and environmental influences.
Dixon MJ, Marazita ML, Beaty TH, Murray JC. Dixon MJ, et al. Nat Rev Genet. 2011 Mar;12(3):167-78. doi: 10.1038/nrg2933. Nat Rev Genet. 2011. PMID: 21331089 Free PMC article. Review.
Clefts of the lip and/or palate (CLP) are common birth defects of complex aetiology. CLP can occur in isolation or as part of a broad range of chromosomal, Mendelian or teratogenic syndromes. Although there has been marked progress in identifying genet …
Clefts of the lip and/or palate (CLP) are common birth defects of complex aetiology. CLP can occur in isolation or as part of …
Genetic models and approaches to study orofacial clefts.
Leslie EJ. Leslie EJ. Oral Dis. 2022 Jul;28(5):1327-1338. doi: 10.1111/odi.14109. Epub 2022 Jan 6. Oral Dis. 2022. PMID: 34923716 Review.
OBJECTIVE: This review describes the evidence for a genetic etiology in OFCs, statistical genetic approaches employed to identify genetic causes, and how the results have shaped our current understanding of the genetic architectures of syndromic and nonsyndromic OFCs. CONC …
OBJECTIVE: This review describes the evidence for a genetic etiology in OFCs, statistical genetic approaches employed to identify genetic ca …
Cleft lip/palate and educational attainment: cause, consequence or correlation? A Mendelian randomization study.
Dardani C, Howe LJ, Mukhopadhyay N, Stergiakouli E, Wren Y, Humphries K, Davies A, Ho K, Weinberg SM, Marazita ML, Mangold E, Ludwig KU, Relton CL, Davey Smith G, Lewis SJ, Sandy J, Davies NM, Sharp GC. Dardani C, et al. Int J Epidemiol. 2020 Aug 1;49(4):1282-1293. doi: 10.1093/ije/dyaa047. Int J Epidemiol. 2020. PMID: 32373937 Free PMC article.
BACKGROUND: Previous studies have found that children born with a non-syndromic orofacial cleft have lower-than-average educational attainment. ...A clearer understanding of this mechanism will inform interventions to improve educational attainment in individuals bo …
BACKGROUND: Previous studies have found that children born with a non-syndromic orofacial cleft have lower-than-average educat …
Managing the cleft lip and palate patient.
Kaufman FL. Kaufman FL. Pediatr Clin North Am. 1991 Oct;38(5):1127-47. doi: 10.1016/s0031-3955(16)38191-3. Pediatr Clin North Am. 1991. PMID: 1886739 Review.
We have attempted to elucidate, first through an examination of the basic science of clefting and then through a description of the roles of the various members of the cleft palate team, an understanding of the multiplicity of problems faced by this heterogeneous gr …
We have attempted to elucidate, first through an examination of the basic science of clefting and then through a description of the roles of …
Sacral protuberance with cleft lip and palate: Prenatal presentation of 3MC syndrome.
Lawson C, Blakemore KJ, Ryan R, Hooper JE, Tsimis M, Jelin A. Lawson C, et al. Am J Med Genet A. 2020 Jul;182(7):1812-1814. doi: 10.1002/ajmg.a.61624. Epub 2020 May 22. Am J Med Genet A. 2020. PMID: 32441374 Free PMC article.
At the time this case presented (2015), the only gene identified in Online Mendelian Inheritance in Man to be associated with 3MC syndrome was MASP1. We present, to the best of our knowledge, the first prenatal report of 3MC syndrome, secondary to a homozygou …
At the time this case presented (2015), the only gene identified in Online Mendelian Inheritance in Man to be associated with 3MC …
The genetics of isolated orofacial clefts: from genotypes to subphenotypes.
Jugessur A, Farlie PG, Kilpatrick N. Jugessur A, et al. Oral Dis. 2009 Oct;15(7):437-53. doi: 10.1111/j.1601-0825.2009.01577.x. Epub 2009 Jul 2. Oral Dis. 2009. PMID: 19583827 Review.
Perturbations impacting on the genesis or growth of these primordia may interfere with the proper morphogenesis of facial structures, resulting in clefting of the lip, the primary or secondary palate, or a combination of these sites. ...In this article, we review th …
Perturbations impacting on the genesis or growth of these primordia may interfere with the proper morphogenesis of facial structures, result …
Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology.
Howe LJ, Lee MK, Sharp GC, Davey Smith G, St Pourcain B, Shaffer JR, Ludwig KU, Mangold E, Marazita ML, Feingold E, Zhurov A, Stergiakouli E, Sandy J, Richmond S, Weinberg SM, Hemani G, Lewis SJ. Howe LJ, et al. PLoS Genet. 2018 Aug 1;14(8):e1007501. doi: 10.1371/journal.pgen.1007501. eCollection 2018 Aug. PLoS Genet. 2018. PMID: 30067744 Free PMC article.
There is increasing evidence that genetic risk variants for non-syndromic cleft lip/palate (nsCL/P) are also associated with normal-range variation in facial morphology. ...Where evidence was found of genetic overlap, we used bidirectional Mendelian …
There is increasing evidence that genetic risk variants for non-syndromic cleft lip/palate (nsCL/P) are also ass …
Genome Analysis Using Whole-Exome Sequencing of Non-Syndromic Cleft Lip and/or Palate from Malagasy Trios Identifies Variants Associated with Cilium-Related Pathways and Asian Genetic Ancestry.
Manojlovic Z, Auslander A, Jin Y, Schmidt RJ, Xu Y, Chang S, Song R, Ingles SA, Nunes A, Vavra KC, Feigelson D, Rakotoarison S, DiBona M, Magee K, Smile O, Ramamonjisoa A, Magee Iii W. Manojlovic Z, et al. Genes (Basel). 2023 Mar 7;14(3):665. doi: 10.3390/genes14030665. Genes (Basel). 2023. PMID: 36980938 Free PMC article.
BACKGROUND: Orofacial clefts (OFCs) are common congenital disabilities that can occur as isolated non-syndromic events or as part of Mendelian syndromes. OFC risk factors vary due to differences in regional environmental exposures, genetic variants, and ethni …
BACKGROUND: Orofacial clefts (OFCs) are common congenital disabilities that can occur as isolated non-syndromic events or as part of …
Mycn deficiency underlies the development of orofacial clefts in mice and humans.
Yang R, Li R, Huang Z, Zuo Y, Yue H, Wu H, Gu F, Wang F, He M, Bian Z. Yang R, et al. Hum Mol Genet. 2022 Mar 3;31(5):803-815. doi: 10.1093/hmg/ddab288. Hum Mol Genet. 2022. PMID: 34590686
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is the most common subphenotype of non-syndromic orofacial clefts arising from genetic and/or environmental perturbations during embryonic development. ...Further analyses indi …
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is the most common subphenotype of non-s …
Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate.
Howe LJ, Richardson TG, Arathimos R, Alvizi L, Passos-Bueno MR, Stanier P, Nohr E, Ludwig KU, Mangold E, Knapp M, Stergiakouli E, Pourcain BS, Smith GD, Sandy J, Relton CL, Lewis SJ, Hemani G, Sharp GC. Howe LJ, et al. Epigenomics. 2019 Feb;11(2):133-145. doi: 10.2217/epi-2018-0091. Epub 2019 Jan 14. Epigenomics. 2019. PMID: 30638414 Free PMC article.
AIM: To determine if nonsyndromic cleft lip with or without cleft palate (nsCL/P) genetic risk variants influence liability to nsCL/P through gene regulation pathways, such as those involving DNA methylation. MATERIALS & METHODS: nsCL/P genetic sum …
AIM: To determine if nonsyndromic cleft lip with or without cleft palate (nsCL/P) genetic risk variants influenc …
21 results