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169 related items for PubMed ID: 35034425

  • 1. 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; 10(2):e1863. PubMed ID: 35034425
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 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. 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 14; 55(1):28-38. PubMed ID: 29021403
    [Abstract] [Full Text] [Related]

  • 5.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Bostwick B.
    ; 1993 Jan 14. PubMed ID: 30702837
    [Abstract] [Full Text] [Related]

  • 6. 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 14; 93(5):1000-1007. PubMed ID: 29393965
    [Abstract] [Full Text] [Related]

  • 7. Mouse Model of Congenital Heart Defects, Dysmorphic Facial Features and Intellectual Developmental Disorders as a Result of Non-functional CDK13.
    Nováková M, Hampl M, Vrábel D, Procházka J, Petrezselyová S, Procházková M, Sedláček R, Kavková M, Zikmund T, Kaiser J, Juan HC, Fann MJ, Buchtová M, Kohoutek J.
    Front Cell Dev Biol; 2019 May 14; 7():155. PubMed ID: 31440507
    [Abstract] [Full Text] [Related]

  • 8. 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 14; 61(5):243-247. PubMed ID: 29222009
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. Molecular cytogenetic characterization of a de novo chromosome 1q41-q42.11 microdeletion of paternal origin in a 15-year-old boy with mental retardation, developmental delay, autism and congenital heart defects.
    Chen CP, Chern SR, Wu PS, Chen SW, Wu FT, Wang W.
    Taiwan J Obstet Gynecol; 2021 Mar 01; 60(2):341-344. PubMed ID: 33678339
    [Abstract] [Full Text] [Related]

  • 11. Prenatal diagnosis and preimplantation genetics testing of 3M syndrome in a Chinese family with novel biallelic variants of CUL7.
    Wang X, He Y, Wang X, Kong X, Lin Y, Yao Y, Huang Y.
    Mol Genet Genomic Med; 2024 Jan 01; 12(1):e2284. PubMed ID: 37877343
    [Abstract] [Full Text] [Related]

  • 12. The genetic cause of intellectual deficiency and/or congenital malformations in two parental reciprocal translocation carriers and implications for assisted reproduction.
    Cheng D, Yuan S, Hu L, Yi D, Luo K, Gong F, Lu C, Lu G, Lin G, Tan YQ.
    J Assist Reprod Genet; 2021 Jan 01; 38(1):243-250. PubMed ID: 33094427
    [Abstract] [Full Text] [Related]

  • 13. CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.
    Rouxel F, Relator R, Kerkhof J, McConkey H, Levy M, Dias P, Barat-Houari M, Bednarek N, Boute O, Chatron N, Cherik F, Delahaye-Duriez A, Doco-Fenzy M, Faivre L, Gauthier LW, Heron D, Hildebrand MS, Lesca G, Lespinasse J, Mazel B, Menke LA, Morgan AT, Pinson L, Quelin C, Rossi M, Ruiz-Pallares N, Tran-Mau-Them F, Van Kessel IN, Vincent M, Weber M, Willems M, Leguyader G, Sadikovic B, Genevieve D.
    Genet Med; 2022 May 01; 24(5):1096-1107. PubMed ID: 35063350
    [Abstract] [Full Text] [Related]

  • 14. Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.
    Slezak R, Smigiel R, Rydzanicz M, Pollak A, Kosinska J, Stawinski P, Malgorzata Sasiadek M, Ploski R.
    Mol Genet Genomic Med; 2020 Oct 01; 8(10):e1432. PubMed ID: 32705777
    [Abstract] [Full Text] [Related]

  • 15. A Novel Cyclin-Dependent Kinase 13 Variant and Unusual Association of Situs Inversus Partialis in a Child From Bahrain: A Case Report and Literature Review.
    Isa HM, Abdulla AM, Abdulla KM, Abdulnabi MJ, Khudhair ZA, Hubail ZJ, Busehail MY, Abdulrasool HA.
    Cureus; 2024 May 01; 16(5):e60970. PubMed ID: 38910624
    [Abstract] [Full Text] [Related]

  • 16. The first Chinese intellectual developmental disorder, autosomal recessive 57 patient with two novel MBOAT7 variants.
    Li H, Qi Z, Xie L, Hao C, Li W.
    Mol Genet Genomic Med; 2024 Feb 01; 12(2):e2391. PubMed ID: 38407511
    [Abstract] [Full Text] [Related]

  • 17. CDK13-related disorder.
    Hamilton MJ, Suri M.
    Adv Genet; 2019 Feb 01; 103():163-182. PubMed ID: 30904094
    [Abstract] [Full Text] [Related]

  • 18. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
    Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D.
    Eur J Hum Genet; 2015 May 01; 23(5):633-8. PubMed ID: 24916641
    [Abstract] [Full Text] [Related]

  • 19. A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.
    Smith JA, Holden KR, Friez MJ, Jones JR, Lyons MJ.
    Am J Med Genet A; 2016 Dec 01; 170(12):3313-3318. PubMed ID: 27570168
    [Abstract] [Full Text] [Related]

  • 20. Case report : a novel ASXL3 gene variant in a Sudanese boy.
    Wu K, Cong Y.
    BMC Pediatr; 2021 Dec 09; 21(1):557. PubMed ID: 34886823
    [Abstract] [Full Text] [Related]

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