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Journal Abstract Search

355 related items for PubMed ID: 29021403

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.
    van den Akker WMR, Brummelman I, Martis LM, Timmermans RN, Pfundt R, Kleefstra T, Willemsen MH, Gerkes EH, Herkert JC, van Essen AJ, Rump P, Vansenne F, Terhal PA, van Haelst MM, Cristian I, Turner CE, Cho MT, Begtrup A, Willaert R, Fassi E, van Gassen KLI, Stegmann APA, de Vries BBA, Schuurs-Hoeijmakers JHM.
    Clin Genet; 2018 May; 93(5):1000-1007. PubMed ID: 29393965
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 4. De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
    Calpena E, Hervieu A, Kaserer T, Swagemakers SMA, Goos JAC, Popoola O, Ortiz-Ruiz MJ, Barbaro-Dieber T, Bownass L, Brilstra EH, Brimble E, Foulds N, Grebe TA, Harder AVE, Lees MM, Monaghan KG, Newbury-Ecob RA, Ong KR, Osio D, Reynoso Santos FJ, Ruzhnikov MRZ, Telegrafi A, van Binsbergen E, van Dooren MF, Deciphering Developmental Disorders StudyDeciphering Developmental Disorders Study, Wellcome Sanger Institute, Cambridge CB10 1SA, UK., van der Spek PJ, Blagg J, Twigg SRF, Mathijssen IMJ, Clarke PA, Wilkie AOM.
    Am J Hum Genet; 2019 Apr 04; 104(4):709-720. PubMed ID: 30905399
    [Abstract] [Full Text] [Related]

  • 5. 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 04; 61(5):243-247. PubMed ID: 29222009
    [Abstract] [Full Text] [Related]

  • 6. CDK13-related disorder.
    Hamilton MJ, Suri M.
    Adv Genet; 2019 May 04; 103():163-182. PubMed ID: 30904094
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
    Yates TM, Vasudevan PC, Chandler KE, Donnelly DE, Stark Z, Sadedin S, Willoughby J, Broad Center for Mendelian GenomicsBroad Center for Mendelian Genomics, Cambridge, Massachusetts., DDD studyDDD Study, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK., Balasubramanian M.
    Am J Med Genet A; 2017 Nov 25; 173(11):3003-3012. PubMed ID: 28944577
    [Abstract] [Full Text] [Related]

  • 10. Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
    Amos JS, Huang L, Thevenon J, Kariminedjad A, Beaulieu CL, Masurel-Paulet A, Najmabadi H, Fattahi Z, Beheshtian M, Tonekaboni SH, Tang S, Helbig KL, Alcaraz W, Rivière JB, Faivre L, Innes AM, Lebel RR, Boycott KM, Care4Rare Canada Consortium.
    Clin Genet; 2017 Jan 25; 91(1):92-99. PubMed ID: 27102954
    [Abstract] [Full Text] [Related]

  • 11. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
    Kim HG, Rosenfeld JA, Scott DA, Bénédicte G, Labonne JD, Brown J, McGuire M, Mahida S, Naidu S, Gutierrez J, Lesca G, des Portes V, Bruel AL, Sorlin A, Xia F, Capri Y, Muller E, McKnight D, Torti E, Rüschendorf F, Hummel O, Islam Z, Kolatkar PR, Layman LC, Ryu D, Kong IK, Madan-Khetarpal S, Kim CH.
    Mol Autism; 2019 Jan 25; 10():35. PubMed ID: 31649809
    [Abstract] [Full Text] [Related]

  • 12. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
    DeSanto C, D'Aco K, Araujo GC, Shannon N, DDD StudyWellcome Trust Sanger Institute, Cambridge, UK., Vernon H, Rahrig A, Monaghan KG, Niu Z, Vitazka P, Dodd J, Tang S, Manwaring L, Martir-Negron A, Schnur RE, Juusola J, Schroeder A, Pan V, Helbig KL, Friedman B, Shinawi M.
    J Med Genet; 2015 Nov 25; 52(11):754-61. PubMed ID: 26264232
    [Abstract] [Full Text] [Related]

  • 13. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
    Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, Bernstein JA, Hale CL, Silver J, Hudgins L, Ananth A, Hanson-Kahn A, Shuster S, Undiagnosed Diseases Network, Magoulas PL, Patel VN, Zhu W, Chen SM, Jiang Y, Liu P, Eng CM, Batkovskyte D, di Ronza A, Sardiello M, Lee BH, Schaaf CP, Yang Y, Wang X.
    Am J Hum Genet; 2018 Jul 05; 103(1):154-162. PubMed ID: 29961569
    [Abstract] [Full Text] [Related]

  • 14. 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 05; 60(9):451-464. PubMed ID: 28645799
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  • 20. 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
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