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178 related items for PubMed ID: 31883531

  • 1. One-month-old girl presenting with pseudohypoaldosteronism leading to the diagnosis of CDK13-related disorder: a case report and review of the literature.
    Yakubov R, Ayman A, Kremer AK, van den Akker M.
    J Med Case Rep; 2019 Dec 29; 13(1):386. PubMed ID: 31883531
    [Abstract] [Full Text] [Related]

  • 2. Pseudohypoaldosteronism type 1 due to a novel mutation in the mineralocorticoid receptor gene.
    Loomba-Albrecht LA, Nagel M, Bremer AA.
    Horm Res Paediatr; 2010 Dec 29; 73(6):482-6. PubMed ID: 20453518
    [Abstract] [Full Text] [Related]

  • 3. 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 29; 55(1):28-38. PubMed ID: 29021403
    [Abstract] [Full Text] [Related]

  • 4. CDK13-related disorder.
    Hamilton MJ, Suri M.
    Adv Genet; 2019 Jan 29; 103():163-182. PubMed ID: 30904094
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Structural chromosome disruption of the NR3C2 gene causing pseudohypoaldosteronism type 1 presenting in infancy.
    O'Connell SM, Johnson SR, Lewis BD, Staltari L, Peverall J, Ly T, Martin AC, Jones TW, Price GJ, Murch A, Choong CS.
    J Pediatr Endocrinol Metab; 2011 Mar 25; 24(7-8):555-9. PubMed ID: 21932599
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1.
    Tajima T, Kitagawa H, Yokoya S, Tachibana K, Adachi M, Nakae J, Suwa S, Katoh S, Fujieda K.
    J Clin Endocrinol Metab; 2000 Dec 14; 85(12):4690-4. PubMed ID: 11134129
    [Abstract] [Full Text] [Related]

  • 9. Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1.
    Gopal-Kothandapani JS, Doshi AB, Smith K, Christian M, Mushtaq T, Banerjee I, Padidela R, Ramakrishnan R, Owen C, Cheetham T, Dimitri P.
    J Pediatr Endocrinol Metab; 2019 Sep 25; 32(9):959-967. PubMed ID: 31301676
    [Abstract] [Full Text] [Related]

  • 10. Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism.
    Pujo L, Fagart J, Gary F, Papadimitriou DT, Claës A, Jeunemaître X, Zennaro MC.
    Hum Mutat; 2007 Jan 25; 28(1):33-40. PubMed ID: 16972228
    [Abstract] [Full Text] [Related]

  • 11. 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 Jan 25; 13():858668. PubMed ID: 35651941
    [Abstract] [Full Text] [Related]

  • 12. Pseudohypoaldosteronism: mineralocorticoid unresponsiveness syndrome.
    Jaruratanasirikul S, Janjindamai W.
    J Med Assoc Thai; 2000 Aug 25; 83(8):948-52. PubMed ID: 10998851
    [Abstract] [Full Text] [Related]

  • 13. Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1.
    Riepe FG, Finkeldei J, de Sanctis L, Einaudi S, Testa A, Karges B, Peter M, Viemann M, Grötzinger J, Sippell WG, Fejes-Toth G, Krone N.
    J Clin Endocrinol Metab; 2006 Nov 25; 91(11):4552-61. PubMed ID: 16954160
    [Abstract] [Full Text] [Related]

  • 14. Complete clinical resolution of a Japanese family with renal pseudohypoaldosteronism type 1 due to a novel NR3C2 mutation.
    Tanaka T, Oki E, Mori T, Tsuruga K, Sohara E, Uchida S, Tanaka H.
    Nephrology (Carlton); 2019 Apr 25; 24(4):489-490. PubMed ID: 30919533
    [No Abstract] [Full Text] [Related]

  • 15. A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1.
    Kawashima Sonoyama Y, Tajima T, Fujimoto M, Hasegawa A, Miyahara N, Nishimura R, Hashida Y, Hayashi A, Hanaki K, Kanzaki S.
    Endocr J; 2017 Jan 30; 64(1):83-90. PubMed ID: 27725360
    [Abstract] [Full Text] [Related]

  • 16. NR3C2 microdeletions-an underrecognized cause of pseudohypoaldosteronism type 1A: a case report and literature review.
    Boyanton BL, Zarate YA, Broadfoot BG, Kelly T, Crawford BD.
    Lab Med; 2024 Sep 04; 55(5):640-644. PubMed ID: 38493321
    [Abstract] [Full Text] [Related]

  • 17. Cardiovascular effects of aldosterone: insight from adult carriers of mineralocorticoid receptor mutations.
    Escoubet B, Couffignal C, Laisy JP, Mangin L, Chillon S, Laouénan C, Serfaty JM, Jeunemaitre X, Mentré F, Zennaro MC.
    Circ Cardiovasc Genet; 2013 Aug 04; 6(4):381-90. PubMed ID: 23852419
    [Abstract] [Full Text] [Related]

  • 18. 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 04; 24(5):1096-1107. PubMed ID: 35063350
    [Abstract] [Full Text] [Related]

  • 19. 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 04; 93(5):1000-1007. PubMed ID: 29393965
    [Abstract] [Full Text] [Related]

  • 20. Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1.
    Balsamo A, Cicognani A, Gennari M, Sippell WG, Menabò S, Baronio F, Riepe FG.
    Eur J Endocrinol; 2007 Feb 04; 156(2):249-56. PubMed ID: 17287415
    [Abstract] [Full Text] [Related]

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