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Journal Abstract Search

233 related items for PubMed ID: 31652620

  • 1. 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]

  • 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 22; 55(7):449-458. PubMed ID: 29500247
    [Abstract] [Full Text] [Related]

  • 3. 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 22; 88(5):441-9. PubMed ID: 25441681
    [Abstract] [Full Text] [Related]

  • 4. Altered regulation of cell migration in IRF6-mutated orofacial cleft patients-derived primary cells reveals a novel role of Rho GTPases in cleft/lip palate development.
    Ghassibe-Sabbagh M, El Hajj J, Al Saneh M, El Baba N, Abou Issa J, Al Haddad M, El Atat O, Sabbagh J, Abou Chebel N, El-Sibai M.
    Cells Dev; 2021 Jun 22; 166():203674. PubMed ID: 33994351
    [Abstract] [Full Text] [Related]

  • 5. Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate.
    Xu H, Niu Y, Wang T, Liu S, Xu H, Wang S, Liu J, Ye Z.
    Biomed Res Int; 2015 Jun 22; 2015():649698. PubMed ID: 26199944
    [Abstract] [Full Text] [Related]

  • 6. Genetics of cleft lip and cleft palate.
    Leslie EJ, Marazita ML.
    Am J Med Genet C Semin Med Genet; 2013 Nov 22; 163C(4):246-58. PubMed ID: 24124047
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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]

  • 9. 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]

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  • 11. 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 02; 298(1):107-118. PubMed ID: 36322204
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. 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]

  • 14. [Cleft lip and palate].
    Voigt A, Radlanski RJ, Sarioglu N, Schmidt G.
    Pathologe; 2017 Jul 07; 38(4):241-247. PubMed ID: 28653248
    [Abstract] [Full Text] [Related]

  • 15. A novel IRF6 mutation causing non-syndromic cleft lip with or without cleft palate in a pedigree.
    Zhao H, Zhang M, Zhong W, Zhang J, Huang W, Zhang Y, Li W, Jia P, Zhang T, Liu Z, Lin J, Chen F.
    Mutagenesis; 2018 Sep 17; 33(3):195-202. PubMed ID: 30053123
    [Abstract] [Full Text] [Related]

  • 16. Identification of a novel mutation of Platelet-Derived Growth Factor-C (PDGFC) gene in a girl with Non-Syndromic cleft lip and palate.
    Rahnama M, Movahedi T, Eslahi A, Kaseb-Mojaver N, Alerasool M, Adabi N, Mojarrad M.
    Gene; 2024 Jun 05; 910():148335. PubMed ID: 38432532
    [Abstract] [Full Text] [Related]

  • 17. Identification of RESP18 Gene Mutations Linked to Hereditary Non-Syndromic Cleft Lip and Palate in a Southern Chinese Family.
    Zhong X, Han X, Xie Q, Chen W, Geng D, Guo G, Chen X, Zhang W, Chen J, Tang S.
    Med Sci Monit; 2024 Jul 06; 30():e944294. PubMed ID: 38970244
    [Abstract] [Full Text] [Related]

  • 18. Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.
    Marini NJ, Asrani K, Yang W, Rine J, Shaw GM.
    Am J Med Genet A; 2019 Jul 06; 179(7):1260-1269. PubMed ID: 31063268
    [Abstract] [Full Text] [Related]

  • 19. Orofacial clefts embryology, classification, epidemiology, and genetics.
    Nasreddine G, El Hajj J, Ghassibe-Sabbagh M.
    Mutat Res Rev Mutat Res; 2021 Jul 06; 787():108373. PubMed ID: 34083042
    [Abstract] [Full Text] [Related]

  • 20. Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.
    Pengelly RJ, Arias L, Martínez J, Upstill-Goddard R, Seaby EG, Gibson J, Ennis S, Collins A, Briceño I.
    Sci Rep; 2016 Jul 26; 6():30457. PubMed ID: 27456059
    [Abstract] [Full Text] [Related]

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