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Journal Abstract Search

110 related items for PubMed ID: 30904094

  • 1. CDK13-related disorder.
    Hamilton MJ, Suri M.
    Adv Genet; 2019; 103():163-182. PubMed ID: 30904094
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  • 2. Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
    Hamilton MJ, Caswell RC, Canham N, Cole T, Firth HV, Foulds N, Heimdal K, Hobson E, Houge G, Joss S, Kumar D, Lampe AK, Maystadt I, McKay V, Metcalfe K, Newbury-Ecob R, Park SM, Robert L, Rustad CF, Wakeling E, Wilkie AOM, Study TDDD, Twigg SRF, Suri M.
    J Med Genet; 2018 Jan; 55(1):28-38. PubMed ID: 29021403
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  • 3. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
    Bostwick BL, McLean S, Posey JE, Streff HE, Gripp KW, Blesson A, Powell-Hamilton N, Tusi J, Stevenson DA, Farrelly E, Hudgins L, Yang Y, Xia F, Wang X, Liu P, Walkiewicz M, McGuire M, Grange DK, Andrews MV, Hummel M, Madan-Khetarpal S, Infante E, Coban-Akdemir Z, Miszalski-Jamka K, Jefferies JL, Members of the Undiagnosed Diseases Network, Rosenfeld JA, Emrick L, Nugent KM, Lupski JR, Belmont JW, Lee B, Lalani SR.
    Genome Med; 2017 Aug 14; 9(1):73. PubMed ID: 28807008
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  • 4. Deciphering congenital heart defects, facial dysmorphism and intellectual developmental disorder (CHDFIDD) associated with constitutional CDK13 pathogenic variants - case report and literature review.
    Wojciechowska K, Kwaśny M, Pietrzyk A, Lejman M.
    Ann Agric Environ Med; 2024 Mar 25; 31(1):147-150. PubMed ID: 38549490
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  • 6. Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects.
    Uehara T, Takenouchi T, Kosaki R, Kurosawa K, Mizuno S, Kosaki K.
    Eur J Med Genet; 2018 May 25; 61(5):243-247. PubMed ID: 29222009
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  • 10. Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects.
    Cui X, Wu X, Wang H, Zhang S, Wang W, Jing X.
    Mol Genet Genomic Med; 2022 Feb 25; 10(2):e1863. PubMed ID: 35034425
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  • 11. Early embryogenesis in CHDFIDD mouse model reveals facial clefts and altered cranial neurogenesis.
    Hampl M, Jandová N, Lusková D, Nováková M, Szotkowská T, Čada Š, Procházka J, Kohoutek J, Buchtová M.
    Dis Model Mech; 2024 Jun 01; 17(6):. PubMed ID: 38511331
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  • 15. Case Report: Hemophagocytic Lymphohistiocytosis Prior to the Onset of Leukemia in a Boy With CDK13-Related Disorder.
    Cui D, Wang S, Zhang A, Liu A, Hu Q.
    Front Genet; 2022 Jun 01; 13():858668. PubMed ID: 35651941
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  • 16. Prospective investigation of FOXP1 syndrome.
    Siper PM, De Rubeis S, Trelles MDP, Durkin A, Di Marino D, Muratet F, Frank Y, Lozano R, Eichler EE, Kelly M, Beighley J, Gerdts J, Wallace AS, Mefford HC, Bernier RA, Kolevzon A, Buxbaum JD.
    Mol Autism; 2017 Jun 01; 8():57. PubMed ID: 29090079
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  • 17. CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases.
    Morison LD, van Reyk O, Forbes E, Rouxel F, Faivre L, Bruinsma F, Vincent M, Jacquemont ML, Dykzeul NL, Geneviève D, Amor DJ, Morgan AT.
    Eur J Hum Genet; 2023 Jul 01; 31(7):793-804. PubMed ID: 36599938
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  • 18. Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.
    Cohen JS, Srivastava S, Farwell Hagman KD, Shinde DN, Huether R, Darcy D, Wallerstein R, Houge G, Berland S, Monaghan KG, Poretti A, Wilson AL, Chung WK, Fatemi A.
    Clin Genet; 2017 May 01; 91(5):697-707. PubMed ID: 27598823
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  • 19. CDK13/CDC2L5 interacts with L-type cyclins and regulates alternative splicing.
    Chen HH, Wong YH, Geneviere AM, Fann MJ.
    Biochem Biophys Res Commun; 2007 Mar 16; 354(3):735-40. PubMed ID: 17261272
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  • 20. A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant.
    Gibbs M, Poulin A, Xi Y, Hashemi B.
    Case Rep Genet; 2023 Mar 16; 2023():3437706. PubMed ID: 37351084
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