These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

184 related items for PubMed ID: 12014383

  • 1. A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome.
    Touraine RL, Zeniou M, Hanauer A.
    Eur J Pediatr; 2002 Apr; 161(4):179-87. PubMed ID: 12014383
    [Abstract] [Full Text] [Related]

  • 2. Four novel RSK2 mutations in females with Coffin-Lowry syndrome.
    Jurkiewicz D, Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Kugaudo M, Gajdulewicz M, Chrzanowska K, Popowska E, Krajewska-Walasek M.
    Eur J Med Genet; 2010 Apr; 53(5):268-73. PubMed ID: 20637903
    [Abstract] [Full Text] [Related]

  • 3. Coffin-Lowry syndrome: clinical and molecular features.
    Hanauer A, Young ID.
    J Med Genet; 2002 Oct; 39(10):705-13. PubMed ID: 12362025
    [Abstract] [Full Text] [Related]

  • 4. Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.
    Delaunoy J, Abidi F, Zeniou M, Jacquot S, Merienne K, Pannetier S, Schmitt M, Schwartz C, Hanauer A.
    Hum Mutat; 2001 Feb; 17(2):103-16. PubMed ID: 11180593
    [Abstract] [Full Text] [Related]

  • 5. 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 Feb; 26(1):47-52. PubMed ID: 26043507
    [Abstract] [Full Text] [Related]

  • 6. X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1).
    Jacquot S, Zeniou M, Touraine R, Hanauer A.
    Eur J Hum Genet; 2002 Jan; 10(1):2-5. PubMed ID: 11896450
    [Abstract] [Full Text] [Related]

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

  • 8. 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; 70(2):161-6. PubMed ID: 16879200
    [Abstract] [Full Text] [Related]

  • 9. 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; 70(6):509-15. PubMed ID: 17100996
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.
    Zeniou M, Pannetier S, Fryns JP, Hanauer A.
    Am J Hum Genet; 2002 Jun; 70(6):1421-33. PubMed ID: 11992250
    [Abstract] [Full Text] [Related]

  • 12. Coffin-Lowry syndrome.
    Pereira PM, Schneider A, Pannetier S, Heron D, Hanauer A.
    Eur J Hum Genet; 2010 Jun; 18(6):627-33. PubMed ID: 19888300
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome.
    Manouvrier-Hanu S, Amiel J, Jacquot S, Merienne K, Moerman A, Coëslier A, Labarriere F, Vallée L, Croquette MF, Hanauer A.
    J Med Genet; 1999 Oct; 36(10):775-8. PubMed ID: 10528858
    [Abstract] [Full Text] [Related]

  • 15. Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene.
    Miyata Y, Saida K, Kumada S, Miyake N, Mashimo H, Nishida Y, Shirai I, Kurihara E, Nakata Y, Matsumoto N.
    Brain Dev; 2018 Aug; 40(7):566-569. PubMed ID: 29678278
    [Abstract] [Full Text] [Related]

  • 16. 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 Aug; 22(1):21-4. PubMed ID: 21614984
    [Abstract] [Full Text] [Related]

  • 17. Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.
    Jacquot S, Merienne K, De Cesare D, Pannetier S, Mandel JL, Sassone-Corsi P, Hanauer A.
    Am J Hum Genet; 1998 Dec; 63(6):1631-40. PubMed ID: 9837815
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome.
    Merienne K, Jacquot S, Trivier E, Pannetier S, Rossi A, Scott C, Schinzel A, Castellan C, Kress W, Hanauer A.
    J Med Genet; 1998 Nov; 35(11):890-4. PubMed ID: 9832033
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 10.