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Journal Abstract Search

135 related items for PubMed ID: 24311527

  • 1. Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.
    Rojnueangnit K, Jones JR, Basehore MJ, Robin NH.
    Am J Med Genet A; 2014 Feb; 164A(2):516-21. PubMed ID: 24311527
    [Abstract] [Full Text] [Related]

  • 2. The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.
    Nishimoto HK, Ha K, Jones JR, Dwivedi A, Cho HM, Layman LC, Kim HG.
    Am J Med Genet A; 2014 Sep; 164A(9):2172-9. PubMed ID: 25044551
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  • 4. An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.
    Castelluccio VJ, Vetrini F, Lynnes T, Jones J, Holloway L, Belonis A, Breman AM, Graham BH, Sapp K, Wilson T, Schwartz CE, Pratt VM, Weaver DD.
    Am J Med Genet A; 2019 Dec; 179(12):2357-2364. PubMed ID: 31512387
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  • 6. Stimulus-induced drop episodes in Coffin-Lowry syndrome.
    Hahn JS, Hanauer A.
    Eur J Med Genet; 2012 May; 55(5):335-7. PubMed ID: 22490425
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  • 7. RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family.
    Maystadt I, Destree A, Benoit V, Aeby A, Lederer D, Moortgat S, Jurkiewicz D, Krajewska-Walasek M, Hanauer A, Thomas GM.
    Clin Genet; 2014 Jan; 85(1):96-9. PubMed ID: 23495752
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  • 8. Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin-Lowry syndrome.
    Schneider A, Maas SM, Hennekam RC, Hanauer A.
    Eur J Med Genet; 2013 Mar; 56(3):150-2. PubMed ID: 23261961
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  • 9. A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings.
    Tos T, Alp MY, Aksoy A, Ceylaner S, Hanauer A.
    Genet Couns; 2015 Mar; 26(1):47-52. PubMed ID: 26043507
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  • 11. A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome.
    Senel S, Ceylaner S, Ceylaner G, Sahin AH, Andrieux J, Delaunoy JP.
    Genet Couns; 2011 Mar; 22(1):21-4. PubMed ID: 21614984
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  • 12. [Deletion of the RPS6KA3 gene in a female with a classical phenotype of Coffin-Lowry syndrome including stimulus-induced drop attacks].
    Quintela I, Barros-Angueira F, Pérez-Gay L, Castro-Gago M, Carracedo Á, Eirís-Puñal J.
    Rev Neurol; 2015 Jul 16; 61(2):94-6. PubMed ID: 26156445
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  • 13. Novel missense mutation c.1784A>G, p.Tyr595Cys in RPS6KA3 gene responsible for Coffin-Lowry syndrome in a family with variable features and diabetes 2.
    Touma Boulos M, Moukarzel A, Yammine T, Salem N, Souaid M, Farra C.
    Clin Dysmorphol; 2021 Jan 16; 30(1):32-35. PubMed ID: 32858545
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  • 14. Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome.
    Labonne JD, Chung MJ, Jones JR, Anand P, Wenzel W, Iacoboni D, Layman LC, Kim HG.
    Gene; 2016 Jan 01; 575(1):42-7. PubMed ID: 26297997
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  • 15. Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
    Delaunoy JP, Dubos A, Marques Pereira P, Hanauer A.
    Clin Genet; 2006 Aug 01; 70(2):161-6. PubMed ID: 16879200
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  • 16. Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.
    Field M, Tarpey P, Boyle J, Edkins S, Goodship J, Luo Y, Moon J, Teague J, Stratton MR, Futreal PA, Wooster R, Raymond FL, Turner G.
    Clin Genet; 2006 Dec 01; 70(6):509-15. PubMed ID: 17100996
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  • 17. A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome.
    Touraine RL, Zeniou M, Hanauer A.
    Eur J Pediatr; 2002 Apr 01; 161(4):179-87. PubMed ID: 12014383
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  • 18. Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern.
    Martinez HR, Niu MC, Sutton VR, Pignatelli R, Vatta M, Jefferies JL.
    Am J Med Genet A; 2011 Dec 01; 155A(12):3030-4. PubMed ID: 22009732
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  • 19. Severe Restrictive Lung Disease in One of the Oldest Documented Males With Coffin-Lowry Syndrome.
    Venter F, Evans A, Fontes C, Stewart C.
    J Investig Med High Impact Case Rep; 2019 Dec 01; 7():2324709618820660. PubMed ID: 30791716
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  • 20. A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome.
    Wang Y, Martinez JE, Wilson GL, He XY, Tuck-Muller CM, Maertens P, Wertelecki W, Chen TJ.
    Am J Med Genet A; 2006 Jun 15; 140(12):1274-9. PubMed ID: 16691578
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