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250 related items for PubMed ID: 36980938

  • 1. 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.
    Genes (Basel); 2023 Mar 07; 14(3):. PubMed ID: 36980938
    [Abstract] [Full Text] [Related]

  • 2. Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes.
    Basha M, Demeer B, Revencu N, Helaers R, Theys S, Bou Saba S, Boute O, Devauchelle B, Francois G, Bayet B, Vikkula M.
    J Med Genet; 2018 Jul 07; 55(7):449-458. PubMed ID: 29500247
    [Abstract] [Full Text] [Related]

  • 3. Genetics of cleft lip and cleft palate.
    Leslie EJ, Marazita ML.
    Am J Med Genet C Semin Med Genet; 2013 Nov 07; 163C(4):246-58. PubMed ID: 24124047
    [Abstract] [Full Text] [Related]

  • 4. A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13.
    Leslie EJ, Carlson JC, Shaffer JR, Feingold E, Wehby G, Laurie CA, Jain D, Laurie CC, Doheny KF, McHenry T, Resick J, Sanchez C, Jacobs J, Emanuele B, Vieira AR, Neiswanger K, Lidral AC, Valencia-Ramirez LC, Lopez-Palacio AM, Valencia DR, Arcos-Burgos M, Czeizel AE, Field LL, Padilla CD, Cutiongco-de la Paz EM, Deleyiannis F, Christensen K, Munger RG, Lie RT, Wilcox A, Romitti PA, Castilla EE, Mereb JC, Poletta FA, Orioli IM, Carvalho FM, Hecht JT, Blanton SH, Buxó CJ, Butali A, Mossey PA, Adeyemo WL, James O, Braimah RO, Aregbesola BS, Eshete MA, Abate F, Koruyucu M, Seymen F, Ma L, de Salamanca JE, Weinberg SM, Moreno L, Murray JC, Marazita ML.
    Hum Mol Genet; 2016 Jul 01; 25(13):2862-2872. PubMed ID: 27033726
    [Abstract] [Full Text] [Related]

  • 5. Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes.
    Gowans LJJ, Al Dhaheri N, Li M, Busch T, Obiri-Yeboah S, Oti AA, Sabbah DK, Arthur FKN, Awotoye WO, Alade AA, Twumasi P, Agbenorku P, Plange-Rhule G, Naicker T, Donkor P, Murray JC, Sobreira NLM, Butali A.
    Mol Genet Genomic Med; 2021 Apr 01; 9(4):e1655. PubMed ID: 33719213
    [Abstract] [Full Text] [Related]

  • 6. Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.
    Cox LL, Cox TC, Moreno Uribe LM, Zhu Y, Richter CT, Nidey N, Standley JM, Deng M, Blue E, Chong JX, Yang Y, Carstens RP, Anand D, Lachke SA, Smith JD, Dorschner MO, Bedell B, Kirk E, Hing AV, Venselaar H, Valencia-Ramirez LC, Bamshad MJ, Glass IA, Cooper JA, Haan E, Nickerson DA, van Bokhoven H, Zhou H, Krahn KN, Buckley MF, Murray JC, Lidral AC, Roscioli T.
    Am J Hum Genet; 2018 Jun 07; 102(6):1143-1157. PubMed ID: 29805042
    [Abstract] [Full Text] [Related]

  • 7. Orofacial clefts embryology, classification, epidemiology, and genetics.
    Nasreddine G, El Hajj J, Ghassibe-Sabbagh M.
    Mutat Res Rev Mutat Res; 2021 Jun 07; 787():108373. PubMed ID: 34083042
    [Abstract] [Full Text] [Related]

  • 8. Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21.
    Mukhopadhyay N, Bishop M, Mortillo M, Chopra P, Hetmanski JB, Taub MA, Moreno LM, Valencia-Ramirez LC, Restrepo C, Wehby GL, Hecht JT, Deleyiannis F, Butali A, Weinberg SM, Beaty TH, Murray JC, Leslie EJ, Feingold E, Marazita ML.
    Hum Genet; 2020 Feb 07; 139(2):215-226. PubMed ID: 31848685
    [Abstract] [Full Text] [Related]

  • 9. Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients.
    Demeer B, Revencu N, Helaers R, Gbaguidi C, Dakpe S, François G, Devauchelle B, Bayet B, Vikkula M.
    Genes (Basel); 2019 Oct 22; 10(10):. PubMed ID: 31652620
    [Abstract] [Full Text] [Related]

  • 10. Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting.
    Diaz Perez KK, Curtis SW, Sanchis-Juan A, Zhao X, Head T, Ho S, Carter B, McHenry T, Bishop MR, Valencia-Ramirez LC, Restrepo C, Hecht JT, Uribe LM, Wehby G, Weinberg SM, Beaty TH, Murray JC, Feingold E, Marazita ML, Cutler DJ, Epstein MP, Brand H, Leslie EJ.
    Genet Med; 2023 Oct 22; 25(10):100918. PubMed ID: 37330696
    [Abstract] [Full Text] [Related]

  • 11. [Exploring the association between de novo mutations and non-syndromic cleft lip with or without palate based on whole exome sequencing of case-parent trios].
    Chen X, Wang SY, Xue EC, Wang XH, Peng HX, Fan M, Wang MY, Wu YQ, Qin XY, Li J, Wu T, Zhu HP, Li J, Zhou ZB, Chen DF, Hu YH.
    Beijing Da Xue Xue Bao Yi Xue Ban; 2022 Jun 18; 54(3):387-393. PubMed ID: 35701113
    [Abstract] [Full Text] [Related]

  • 12. Copy Number Changes Identified Using Whole Exome Sequencing in Nonsyndromic Cleft Lip and Palate in a Honduran Population.
    Cai Y, Patterson KE, Reinier F, Keesecker SE, Blue E, Bamshad M, Haddad J.
    Birth Defects Res; 2017 Oct 02; 109(16):1257-1267. PubMed ID: 28748635
    [Abstract] [Full Text] [Related]

  • 13. A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22.
    Slavec L, Geršak K, Eberlinc A, Hovnik T, Lovrečić L, Mlinarič-Raščan I, Karas Kuželički N.
    Int J Mol Sci; 2023 Feb 21; 24(5):. PubMed ID: 36901693
    [Abstract] [Full Text] [Related]

  • 14. Variant analyses of candidate genes in orofacial clefts in multi-ethnic populations.
    Li M, Olotu J, Buxo-Martinez CJ, Mossey PA, Anand D, Busch T, Alade A, Gowans LJJ, Eshete M, Adeyemo WL, Naicker T, Awotoye WO, Gupta S, Adeleke C, Bravo V, Huang S, Adamson OO, Toraño AM, Bello CA, Soto M, Soto M, Ledesma R, Marquez M, Cordero JF, Lopez-Del Valle LM, Salcedo MI, Debs N, Petrin A, Malloy H, Elhadi K, James O, Ogunlewe MO, Abate F, Hailu A, Mohammed I, Gravem P, Deribew M, Gesses M, Hassan M, Pape J, Obiri-Yeboah S, Arthur FKN, Oti AA, Donkor P, Marazita ML, Lachke SA, Adeyemo AA, Murray JC, Butali A.
    Oral Dis; 2022 Oct 21; 28(7):1921-1935. PubMed ID: 34061439
    [Abstract] [Full Text] [Related]

  • 15. Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.
    Bishop MR, Diaz Perez KK, Sun M, Ho S, Chopra P, Mukhopadhyay N, Hetmanski JB, Taub MA, Moreno-Uribe LM, Valencia-Ramirez LC, Restrepo Muñeton CP, Wehby G, Hecht JT, Deleyiannis F, Weinberg SM, Wu-Chou YH, Chen PK, Brand H, Epstein MP, Ruczinski I, Murray JC, Beaty TH, Feingold E, Lipinski RJ, Cutler DJ, Marazita ML, Leslie EJ.
    Am J Hum Genet; 2020 Jul 02; 107(1):124-136. PubMed ID: 32574564
    [Abstract] [Full Text] [Related]

  • 16. Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate.
    Aylward A, Cai Y, Lee A, Blue E, Rabinowitz D, Haddad J, University of Washington Center for Mendelian Genomics.
    Genet Epidemiol; 2016 Jul 02; 40(5):432-41. PubMed ID: 27229527
    [Abstract] [Full Text] [Related]

  • 17. Three GLI2 mutations combined potentially underlie non-syndromic cleft lip with or without cleft palate in a Chinese pedigree.
    Meng P, Zhao H, Huang W, Zhang Y, Zhong W, Zhang M, Jia P, Zhou Z, Maimaitili G, Chen F, Zhang J, Lin J.
    Mol Genet Genomic Med; 2019 Sep 02; 7(9):e714. PubMed ID: 31386309
    [Abstract] [Full Text] [Related]

  • 18. Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate.
    Leslie EJ, Murray JC.
    Clin Genet; 2013 Nov 02; 84(5):496-500. PubMed ID: 22978696
    [Abstract] [Full Text] [Related]

  • 19. Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.
    Pengelly RJ, Upstill-Goddard R, Arias L, Martinez J, Gibson J, Knut M, Collins AL, Ennis S, Collins A, Briceno I.
    Clin Genet; 2015 Nov 02; 88(5):441-9. PubMed ID: 25441681
    [Abstract] [Full Text] [Related]

  • 20. Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?
    Diaz Perez KK, Chung S, Head ST, Epstein MP, Hecht JT, Wehby GL, Weinberg SM, Murray JC, Marazita ML, Leslie EJ.
    Am J Med Genet A; 2023 Oct 02; 191(10):2558-2570. PubMed ID: 37350193
    [Abstract] [Full Text] [Related]

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