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Journal Abstract Search

127 related items for PubMed ID: 38549490

  • 21. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
    Asadollahi R, Zweier M, Gogoll L, Schiffmann R, Sticht H, Steindl K, Rauch A.
    Eur J Med Genet; 2017 Sep; 60(9):451-464. PubMed ID: 28645799
    [Abstract] [Full Text] [Related]

  • 22. Characterization of human cyclin-dependent kinase 12 (CDK12) and CDK13 complexes in C-terminal domain phosphorylation, gene transcription, and RNA processing.
    Liang K, Gao X, Gilmore JM, Florens L, Washburn MP, Smith E, Shilatifard A.
    Mol Cell Biol; 2015 Mar; 35(6):928-38. PubMed ID: 25561469
    [Abstract] [Full Text] [Related]

  • 23. Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.
    Sewani M, Nugent K, Blackburn PR, Tarnowski JM, Hernandez-Garcia A, Amiel J, Whalen S, Keren B, Courtin T, Rosenfeld JA, Yang Y, Patterson MC, Pichurin P, McLean SD, Scott DA.
    Am J Med Genet A; 2020 Apr; 182(4):652-658. PubMed ID: 31883306
    [Abstract] [Full Text] [Related]

  • 24. Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability.
    Yi Z, Zhang Y, Song Z, Pan H, Yang C, Li F, Xue J, Qu Z.
    Ital J Pediatr; 2020 Jul 09; 46(1):95. PubMed ID: 32646507
    [Abstract] [Full Text] [Related]

  • 25. Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome.
    Quental R, Gonçalves D, Rodrigues E, Serrano Gonçalves E, Oliveira J, Parente Freixo J, Leão M.
    Am J Med Genet A; 2022 Apr 09; 188(4):1311-1316. PubMed ID: 34997803
    [Abstract] [Full Text] [Related]

  • 26. Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.
    Acharya A, Raza SI, Anwar MZ, Bharadwaj T, Liaqat K, Khokhar MAS, Everard JL, Nasir A, University of Washington Center for Mendelian Genomics, Nickerson DA, Bamshad MJ, Ansar M, Schrauwen I, Ahmad W, Leal SM.
    J Hum Genet; 2021 Oct 09; 66(10):1009-1018. PubMed ID: 33879837
    [Abstract] [Full Text] [Related]

  • 27. Pathogenesis of CDK8-associated disorder: two patients with novel CDK8 variants and in vitro and in vivo functional analyses of the variants.
    Uehara T, Abe K, Oginuma M, Ishitani S, Yoshihashi H, Okamoto N, Takenouchi T, Kosaki K, Ishitani T.
    Sci Rep; 2020 Oct 16; 10(1):17575. PubMed ID: 33067521
    [Abstract] [Full Text] [Related]

  • 28. A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features.
    Imagawa E, Konuma T, Cork EE, Diaz GA, Oishi K.
    Clin Genet; 2020 Dec 16; 98(6):606-612. PubMed ID: 32812661
    [Abstract] [Full Text] [Related]

  • 29. De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
    Fan Y, Yin W, Hu B, Kline AD, Zhang VW, Liang D, Sun Y, Wang L, Tang S, Powis Z, Li L, Yan H, Shi Z, Yang X, Chen Y, Wang J, Jiang Y, Tan H, Gu X, Wu L, Yu Y.
    Am J Hum Genet; 2018 Sep 06; 103(3):448-455. PubMed ID: 30122539
    [Abstract] [Full Text] [Related]

  • 30. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
    Harms FL, Girisha KM, Hardigan AA, Kortüm F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird LM, Ceulemans S, Bebin M, Bowling KM, Hiatt SM, Lose EJ, Primiano M, Chung WK, Juusola J, Akdemir ZC, Bainbridge M, Charng WL, Drummond-Borg M, Eldomery MK, El-Hattab AW, Saleh MAM, Bézieau S, Cogné B, Isidor B, Küry S, Lupski JR, Myers RM, Cooper GM, Kutsche K.
    Am J Hum Genet; 2017 Jan 05; 100(1):117-127. PubMed ID: 28017373
    [Abstract] [Full Text] [Related]

  • 31. De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
    Ma L, Bayram Y, McLaughlin HM, Cho MT, Krokosky A, Turner CE, Lindstrom K, Bupp CP, Mayberry K, Mu W, Bodurtha J, Weinstein V, Zadeh N, Alcaraz W, Powis Z, Shao Y, Scott DA, Lewis AM, White JJ, Jhangiani SN, Gulec EY, Lalani SR, Lupski JR, Retterer K, Schnur RE, Wentzensen IM, Bale S, Chung WK.
    Hum Genet; 2016 Dec 05; 135(12):1399-1409. PubMed ID: 27681385
    [Abstract] [Full Text] [Related]

  • 32. Expanding the phenotype of TAB2 variants and literature review.
    Woods E, Marson I, Coci E, Spiller M, Kumar A, Brady A, Homfray T, Fisher R, Turnpenny P, Rankin J, Kanani F, Platzer K, Ververi A, Emmanouilidou E, Bourboun N, Giannakoulas G, Balasubramanian M.
    Am J Med Genet A; 2022 Nov 05; 188(11):3331-3342. PubMed ID: 35971781
    [Abstract] [Full Text] [Related]

  • 33. PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.
    Low KJ, Ansari M, Abou Jamra R, Clarke A, El Chehadeh S, FitzPatrick DR, Greenslade M, Henderson A, Hurst J, Keller K, Kuentz P, Prescott T, Roessler F, Selmer KK, Schneider MC, Stewart F, Tatton-Brown K, Thevenon J, Vigeland MD, Vogt J, Willems M, Zonana J, Study DD, Smithson SF.
    Eur J Hum Genet; 2017 May 05; 25(5):552-559. PubMed ID: 28327570
    [Abstract] [Full Text] [Related]

  • 34. Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.
    Luco SM, Pohl D, Sell E, Wagner JD, Dyment DA, Daoud H.
    BMC Med Genet; 2016 Feb 27; 17():15. PubMed ID: 26922654
    [Abstract] [Full Text] [Related]

  • 35. Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects and facial dysmorphism.
    Chen CP, Lin SP, Chern SR, Wu PS, Chen SW, Wu FT, Town DD, Wang W.
    Taiwan J Obstet Gynecol; 2021 Jan 27; 60(1):169-172. PubMed ID: 33494996
    [Abstract] [Full Text] [Related]

  • 36. Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.
    Murch O, Jain V, Benneche A, Metcalfe K, Hobson E, Prescott K, Chandler K, Ghali N, Carmichael J, Foulds NC, Paulsen J, Smeland MF, Berland S, Fry AE.
    Eur J Hum Genet; 2022 Jan 27; 30(1):95-100. PubMed ID: 34645992
    [Abstract] [Full Text] [Related]

  • 37. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.
    Verheije R, Kupchik GS, Isidor B, Kroes HY, Lynch SA, Hawkes L, Hempel M, Gelb BD, Ghoumid J, D'Amours G, Chandler K, Dubourg C, Loddo S, Tümer Z, Shaw-Smith C, Nizon M, Shevell M, Van Hoof E, Anyane-Yeboa K, Cerbone G, Clayton-Smith J, Cogné B, Corre P, Corveleyn A, De Borre M, Hjortshøj TD, Fradin M, Gewillig M, Goldmuntz E, Hens G, Lemyre E, Journel H, Kini U, Kortüm F, Le Caignec C, Novelli A, Odent S, Petit F, Revah-Politi A, Stong N, Strom TM, van Binsbergen E, DDD study, Devriendt K, Breckpot J.
    Eur J Hum Genet; 2019 Feb 27; 27(2):278-290. PubMed ID: 30291340
    [Abstract] [Full Text] [Related]

  • 38. Cdk12 and Cdk13 regulate axonal elongation through a common signaling pathway that modulates Cdk5 expression.
    Chen HR, Lin GT, Huang CK, Fann MJ.
    Exp Neurol; 2014 Nov 27; 261():10-21. PubMed ID: 24999027
    [Abstract] [Full Text] [Related]

  • 39. DYRK1A mutations in two unrelated patients.
    Ruaud L, Mignot C, Guët A, Ohl C, Nava C, Héron D, Keren B, Depienne C, Benoit V, Maystadt I, Lederer D, Amsallem D, Piard J.
    Eur J Med Genet; 2015 Mar 27; 58(3):168-74. PubMed ID: 25641759
    [Abstract] [Full Text] [Related]

  • 40. PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants.
    Grimes H, Ansari M, Ashraf T, Cueto-González AM, Calder A, Day M, Fernandez Alvarez P, Foster A, Lahiri N, Repetto GM, Scurr I, Varghese V, Low KJ.
    Am J Med Genet A; 2023 Oct 27; 191(10):2610-2622. PubMed ID: 37303278
    [Abstract] [Full Text] [Related]

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