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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

134 related articles for article (PubMed ID: 35638718)

  • 1. Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome.
    Tise CG; Matalon DR; Manning MA; Byers HM; Grover M
    J Investig Med High Impact Case Rep; 2022; 10():23247096221101844. PubMed ID: 35638718
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Case Report: Chinese female patients with a heterozygous pathogenic
    Cong Y; Jin H; Wu K; Wang H; Wang D
    Front Genet; 2022; 13():900226. PubMed ID: 36046249
    [No Abstract]   [Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Foramen magnum compression in Coffin-Lowry syndrome: A case report.
    Upadia J; Oakes J; Hamm A; Hurst AC; Robin NH
    Am J Med Genet A; 2017 Apr; 173(4):1087-1089. PubMed ID: 28190284
    [TBL] [Abstract][Full Text] [Related]  

  • 6. First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review.
    Song A; Im M; Kim MS; Noh ES; Kim C; Jang J; Lee SM; Ki CS; Cho SY; Jin DK
    Ann Pediatr Endocrinol Metab; 2023 Mar; 28(1):67-72. PubMed ID: 35038833
    [TBL] [Abstract][Full Text] [Related]  

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

  • 8. 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; 575(1):42-7. PubMed ID: 26297997
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Coffin-Lowry Syndrome Induced by
    Jin H; Li H; Qiang S
    Medicina (Kaunas); 2022 Jul; 58(7):. PubMed ID: 35888677
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 140(12):1274-9. PubMed ID: 16691578
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 26(1):47-52. PubMed ID: 26043507
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A female with Coffin-Lowry syndrome and "cataplexy".
    Fryssira H; Kountoupi S; Delaunoy JP; Thomaidis L
    Genet Couns; 2002; 13(4):405-9. PubMed ID: 12558110
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel RPS6KA3 mutations cause Coffin-Lowry syndrome in two patients and concurrent compulsive eyebrow-pulling behavior in one of them.
    Gürsoy S; Hazan F; Çetinoğlu E
    Psychiatr Genet; 2022 Oct; 32(5):194-198. PubMed ID: 36125370
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Analysis of RPS6KA3 gene mutation in a Chinese pedigree affected with Coffin-Lowry syndrome].
    Shen N; Liu Y; Zhang K; Lyu Y; Gao M; Ma J; Xu L; Gai Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Aug; 36(8):798-800. PubMed ID: 31400131
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.