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Journal Abstract Search

198 related items for PubMed ID: 22978696

  • 1.
    ; . PubMed ID:
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  • 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; 55(7):449-458. PubMed ID: 29500247
    [Abstract] [Full Text] [Related]

  • 3. Identification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing.
    Liu YP, Xu LF, Wang Q, Zhou XL, Zhou JL, Pan C, Zhang JP, Wu QR, Li YQ, Xia YJ, Peng X, Zhang MR, Yu HM, Xu LC.
    Med Oral Patol Oral Cir Bucal; 2015 Nov 01; 20(6):e763-70. PubMed ID: 26449438
    [Abstract] [Full Text] [Related]

  • 4. Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only.
    Ludwig KU, Böhmer AC, Bowes J, Nikolic M, Ishorst N, Wyatt N, Hammond NL, Gölz L, Thieme F, Barth S, Schuenke H, Klamt J, Spielmann M, Aldhorae K, Rojas-Martinez A, Nöthen MM, Rada-Iglesias A, Dixon MJ, Knapp M, Mangold E.
    Hum Mol Genet; 2017 Feb 15; 26(4):829-842. PubMed ID: 28087736
    [Abstract] [Full Text] [Related]

  • 5. Expression Quantitative Trait Locus Study of Non-Syndromic Cleft Lip with or without Cleft Palate GWAS Variants in Lip Tissues.
    Li X, Tian Y, Qiu L, Lou S, Zhu G, Gao Y, Ma L, Pan Y.
    Cells; 2022 Oct 18; 11(20):. PubMed ID: 36291147
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  • 7. Polygenic risk impacts PDGFRA mutation penetrance in non-syndromic cleft lip and palate.
    Yu Y, Alvarado R, Petty LE, Bohlender RJ, Shaw DM, Below JE, Bejar N, Ruiz OE, Tandon B, Eisenhoffer GT, Kiss DL, Huff CD, Letra A, Hecht JT.
    Hum Mol Genet; 2022 Jul 21; 31(14):2348-2357. PubMed ID: 35147171
    [Abstract] [Full Text] [Related]

  • 8. Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22.
    Leslie EJ, Mansilla MA, Biggs LC, Schuette K, Bullard S, Cooper M, Dunnwald M, Lidral AC, Marazita ML, Beaty TH, Murray JC.
    Birth Defects Res A Clin Mol Teratol; 2012 Nov 21; 94(11):934-42. PubMed ID: 23008150
    [Abstract] [Full Text] [Related]

  • 9. Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations.
    Zieger HK, Weinhold L, Schmidt A, Holtgrewe M, Juranek SA, Siewert A, Scheer AB, Thieme F, Mangold E, Ishorst N, Brand FU, Welzenbach J, Beule D, Paeschke K, Krawitz PM, Ludwig KU.
    HGG Adv; 2023 Jan 12; 4(1):100166. PubMed ID: 36589413
    [Abstract] [Full Text] [Related]

  • 10. Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate.
    Leslie EJ, Carlson JC, Shaffer JR, Buxó CJ, Castilla EE, Christensen K, Deleyiannis FWB, Field LL, Hecht JT, Moreno L, Orioli IM, Padilla C, Vieira AR, Wehby GL, Feingold E, Weinberg SM, Murray JC, Marazita ML.
    Am J Med Genet A; 2017 Jun 12; 173(6):1531-1538. PubMed ID: 28425186
    [Abstract] [Full Text] [Related]

  • 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 12; 298(1):107-118. PubMed ID: 36322204
    [Abstract] [Full Text] [Related]

  • 12. [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]

  • 13. Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants.
    Savastano CP, Brito LA, Faria ÁC, Setó-Salvia N, Peskett E, Musso CM, Alvizi L, Ezquina SA, James C, GOSgene, Beales P, Lees M, Moore GE, Stanier P, Passos-Bueno MR.
    Clin Genet; 2017 May 18; 91(5):683-689. PubMed ID: 27350171
    [Abstract] [Full Text] [Related]

  • 14. Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.
    Ishorst N, Henschel L, Thieme F, Drichel D, Sivalingam S, Mehrem SL, Fechtner AC, Fazaal J, Welzenbach J, Heimbach A, Maj C, Borisov O, Hausen J, Raff R, Hoischen A, Dixon M, Rada-Iglesias A, Bartusel M, Rojas-Martinez A, Aldhorae K, Braumann B, Kruse T, Kirschneck C, Spanier G, Reutter H, Nowak S, Gölz L, Knapp M, Buness A, Krawitz P, Nöthen MM, Nothnagel M, Becker T, Ludwig KU, Mangold E.
    Mol Genet Genomic Med; 2023 Mar 18; 11(3):e2109. PubMed ID: 36468602
    [Abstract] [Full Text] [Related]

  • 15. 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 18; 7(9):e714. PubMed ID: 31386309
    [Abstract] [Full Text] [Related]

  • 16. Association between polymorphisms at the GREM1 locus and the risk of nonsyndromic cleft lip with or without cleft palate in the Polish population.
    Mostowska A, Hozyasz KK, Wójcicki P, Żukowski K, Dąbrowska A, Lasota A, Zadurska M, Radomska A, Dunin-Wilczyńska I, Jagodziński PP.
    Birth Defects Res A Clin Mol Teratol; 2015 Oct 18; 103(10):847-56. PubMed ID: 26043427
    [Abstract] [Full Text] [Related]

  • 17. 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 18; 1(6):e64. PubMed ID: 16327884
    [Abstract] [Full Text] [Related]

  • 18. Gene-gene interaction of single nucleotide polymorphisms in 16p13.3 may contribute to the risk of non-syndromic cleft lip with or without cleft palate in Chinese case-parent trios.
    Liu D, Wang H, Schwender H, Marazita ML, Wang Z, Yuan Y, Wang P, Liang KY, Wu-Chou YH, Wang M, Shi B, Zhu H, Wu T, Beaty TH.
    Am J Med Genet A; 2017 Jun 18; 173(6):1489-1494. PubMed ID: 28402597
    [Abstract] [Full Text] [Related]

  • 19. Polymorphic Variants of V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog B (rs13041247 and rs11696257) and Risk of Non-Syndromic Cleft Lip/Palate: Systematic Review and Meta-Analysis.
    Imani MM, Lopez-Jornet P, Pons-Fuster López E, Sadeghi M.
    Int J Environ Res Public Health; 2019 Aug 05; 16(15):. PubMed ID: 31387249
    [Abstract] [Full Text] [Related]

  • 20. MTHFR, TGFB3, and TGFA polymorphisms and their association with the risk of non-syndromic cleft lip and cleft palate in China.
    Zhu J, Hao L, Li S, Bailey LB, Tian Y, Li Z.
    Am J Med Genet A; 2010 Feb 05; 152A(2):291-8. PubMed ID: 20082468
    [Abstract] [Full Text] [Related]

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