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 *

144 related articles for article (PubMed ID: 28190284)

  • 21. 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; 53(5):268-73. PubMed ID: 20637903
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 23. [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]  

  • 24. 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]  

  • 25. 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]  

  • 26. Defective synaptic transmission and structure in the dentate gyrus and selective fear memory impairment in the Rsk2 mutant mouse model of Coffin-Lowry syndrome.
    Morice E; Farley S; Poirier R; Dallerac G; Chagneau C; Pannetier S; Hanauer A; Davis S; Vaillend C; Laroche S
    Neurobiol Dis; 2013 Oct; 58():156-68. PubMed ID: 23742761
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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; 30(1):32-35. PubMed ID: 32858545
    [No Abstract]   [Full Text] [Related]  

  • 28. Postmortem findings in the Coffin-Lowry Syndrome.
    Coffin GS
    Genet Med; 2003; 5(3):187-93. PubMed ID: 12792428
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Familial co-segregation of Coffin-Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father.
    Loupe J; Sampath S; Lacassie Y
    Eur J Med Genet; 2014 Oct; 57(10):562-6. PubMed ID: 25118007
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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; 7():2324709618820660. PubMed ID: 30791716
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
    Couser NL; Pande CK; Turcott CM; Spector EB; Aylsworth AS; Powell CM
    Am J Med Genet A; 2017 Apr; 173(4):1097-1101. PubMed ID: 28181399
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome?
    Romeo A; Lodi M; Viri M; Parente E; Baldi M; Righini A; Milani D
    Pediatr Neurol; 2014 Apr; 50(4):427-30. PubMed ID: 24630288
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia.
    Cesaretti C; Spaccini L; Rustico M; Parazzini C; Doneda C; Re TJ; Righini A
    Prenat Diagn; 2014 Oct; 34(10):1015-7. PubMed ID: 24839128
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Coffin-Lowry syndrome in Chinese.
    Fung JLF; Rethanavelu K; Luk HM; Ho MSP; Lo IFM; Chung BHY
    Am J Med Genet A; 2019 Oct; 179(10):2043-2048. PubMed ID: 31400053
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Expression analysis of RSK gene family members: the RSK2 gene, mutated in Coffin-Lowry syndrome, is prominently expressed in brain structures essential for cognitive function and learning.
    Zeniou M; Ding T; Trivier E; Hanauer A
    Hum Mol Genet; 2002 Nov; 11(23):2929-40. PubMed ID: 12393804
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome.
    Kesler SR; Simensen RJ; Voeller K; Abidi F; Stevenson RE; Schwartz CE; Reiss AL
    Neurogenetics; 2007 Apr; 8(2):143-7. PubMed ID: 17318637
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Selective alteration of adult hippocampal neurogenesis and impaired spatial pattern separation performance in the RSK2-deficient mouse model of Coffin-Lowry syndrome.
    Castillon C; Lunion S; Desvignes N; Hanauer A; Laroche S; Poirier R
    Neurobiol Dis; 2018 Jul; 115():69-81. PubMed ID: 29627578
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Earlier detection of hypochondroplasia: A large single-center UK case series and systematic review.
    Sabir AH; Sheikh J; Singh A; Morley E; Cocca A; Cheung MS; Irving M
    Am J Med Genet A; 2021 Jan; 185(1):73-82. PubMed ID: 33051983
    [TBL] [Abstract][Full Text] [Related]  

  • 39. The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient.
    Marques Pereira P; Heron D; Hanauer A
    Hum Genet; 2007 Dec; 122(5):541-3. PubMed ID: 17717706
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Gene symbol: RPS6KA3.
    Chen TJ; Wang Y; Martinez JE; Wilson GL; He XY; Tuck-Muller CM; Maertens P; Wertelecki W; Chen TJ
    Hum Genet; 2007 Apr; 121(2):288. PubMed ID: 17598200
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.