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Journal Abstract Search

262 related items for PubMed ID: 31386309

  • 1. 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; 7(9):e714. PubMed ID: 31386309
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. A Novel IRF6 Variant Detected in a Family With Nonsyndromic Cleft Lip and Palate by Whole Exome Sequencing.
    Wang Y, Ma C, Jiang C, Zhang Y, Wu D.
    J Craniofac Surg; 2018 Sep 17; 32(1):265-269. PubMed ID: 33136784
    [Abstract] [Full Text] [Related]

  • 4. 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 17; 55(7):449-458. PubMed ID: 29500247
    [Abstract] [Full Text] [Related]

  • 5. Identification of a Novel Variant of ARHGAP29 in a Chinese Family with Nonsyndromic Cleft Lip and Palate.
    Tang JX, Xiao XS, Wang K, Jin JY, Fan LL, Xiang R.
    Biomed Res Int; 2020 Jul 17; 2020():8790531. PubMed ID: 33150183
    [Abstract] [Full Text] [Related]

  • 6. A Novel CDH1 Mutation Causing Reduced E-Cadherin Dimerization Is Associated with Nonsyndromic Cleft Lip With or Without Cleft Palate.
    Du S, Yang Y, Yi P, Luo J, Liu T, Chen R, Liu CJ, Ma T, Li Y, Wang C, Weng J, Liu M, Zhang L, Yang B, Zeng X, Liu JY.
    Genet Test Mol Biomarkers; 2019 Nov 17; 23(11):759-765. PubMed ID: 31638429
    [Abstract] [Full Text] [Related]

  • 7. A novel PTCH1 mutation underlies nonsyndromic cleft lip and/or palate in a Han Chinese family.
    Zhao H, Zhong W, Leng C, Zhang J, Zhang M, Huang W, Zhang Y, Li W, Jia P, Lin J, Maimaitili G, Chen F.
    Oral Dis; 2018 Oct 17; 24(7):1318-1325. PubMed ID: 29908092
    [Abstract] [Full Text] [Related]

  • 8. A Novel PAX3 Variant in a Chinese Pedigree with Nonsyndromic Cleft Lip With or Without Palate.
    Liang W, Huang W, Sun B, Zhong W, Zhang Y, Zhang J, Zhou Z, Lin J, Chen F.
    Genet Test Mol Biomarkers; 2021 Dec 17; 25(12):749-756. PubMed ID: 34918979
    [Abstract] [Full Text] [Related]

  • 9. Novel TBX22 mutations in Chinese nonsyndromic cleft lip/palate families.
    Dai J, Xu C, Wang G, Liang Y, Wan T, Zhang Y, Xu X, Yu L, Che Z, Han Q, Wu D, Yang Y.
    J Genet; 2018 Jun 17; 97(2):411-417. PubMed ID: 29932061
    [Abstract] [Full Text] [Related]

  • 10. 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 17; 88(5):441-9. PubMed ID: 25441681
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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]

  • 13. 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 07; 298(1):107-118. PubMed ID: 36322204
    [Abstract] [Full Text] [Related]

  • 14. Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate.
    Nasser E, Mangold E, Tradowsky DC, Fier H, Becker J, Boehmer AC, Herberz R, Fricker N, Barth S, Wahle P, Nowak S, Reutter H, Reich RH, Lauster C, Braumann B, Kreusch T, Hemprich A, Pötzsch B, Hoffmann P, Kramer FJ, Knapp M, Lange C, Nöthen MM, Ludwig KU.
    Birth Defects Res A Clin Mol Teratol; 2012 Nov 07; 94(11):925-33. PubMed ID: 23081944
    [Abstract] [Full Text] [Related]

  • 15. [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]

  • 16. [Identification of pathogenic variant in a Chinese pedigree affected with non-syndromic cleft lip and palate].
    Zhang M, Huang J, Shi F, He J, Xiao H, Wu D, Wang H, Liu H.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jan 10; 38(1):52-55. PubMed ID: 33423258
    [Abstract] [Full Text] [Related]

  • 17. Association of CDKAL1 nucleotide variants with the risk of non-syndromic cleft lip with or without cleft palate.
    Gaczkowska A, Żukowski K, Biedziak B, Hozyasz KK, Wójcicki P, Zadurska M, Budner M, Lasota A, Szponar-Żurowska A, Jagodziński PP, Mostowska A.
    J Hum Genet; 2018 Apr 10; 63(4):397-406. PubMed ID: 29403086
    [Abstract] [Full Text] [Related]

  • 18. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.
    Vieira AR, Avila JR, Daack-Hirsch S, Dragan E, Félix TM, Rahimov F, Harrington J, Schultz RR, Watanabe Y, Johnson M, Fang J, O'Brien SE, Orioli IM, Castilla EE, Fitzpatrick DR, Jiang R, Marazita ML, Murray JC.
    PLoS Genet; 2005 Dec 10; 1(6):e64. PubMed ID: 16327884
    [Abstract] [Full Text] [Related]

  • 19. 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 10; 40(5):432-41. PubMed ID: 27229527
    [Abstract] [Full Text] [Related]

  • 20. Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.
    Mangold E, Böhmer AC, Ishorst N, Hoebel AK, Gültepe P, Schuenke H, Klamt J, Hofmann A, Gölz L, Raff R, Tessmann P, Nowak S, Reutter H, Hemprich A, Kreusch T, Kramer FJ, Braumann B, Reich R, Schmidt G, Jäger A, Reiter R, Brosch S, Stavusis J, Ishida M, Seselgyte R, Moore GE, Nöthen MM, Borck G, Aldhorae KA, Lace B, Stanier P, Knapp M, Ludwig KU.
    Am J Hum Genet; 2016 Apr 07; 98(4):755-62. PubMed ID: 27018475
    [Abstract] [Full Text] [Related]

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