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 *

210 related articles for article (PubMed ID: 25119967)

  • 1. FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met.
    Farmakis SG; Shinawi M; Miller-Thomas M; Radmanesh A; Herman TE
    Skeletal Radiol; 2015 Mar; 44(3):441-5. PubMed ID: 25119967
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation.
    Manickam K; Donoghue DJ; Meyer AN; Snyder PJ; Prior TW
    Am J Med Genet A; 2014 Jan; 164A(1):243-50. PubMed ID: 24352917
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.
    Bellus GA; Bamshad MJ; Przylepa KA; Dorst J; Lee RR; Hurko O; Jabs EW; Curry CJ; Wilcox WR; Lachman RS; Rimoin DL; Francomano CA
    Am J Med Genet; 1999 Jul; 85(1):53-65. PubMed ID: 10377013
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.
    Tavormina PL; Bellus GA; Webster MK; Bamshad MJ; Fraley AE; McIntosh I; Szabo J; Jiang W; Jabs EW; Wilcox WR; Wasmuth JJ; Donoghue DJ; Thompson LM; Francomano CA
    Am J Hum Genet; 1999 Mar; 64(3):722-31. PubMed ID: 10053006
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.
    Zankl A; Elakis G; Susman RD; Inglis G; Gardener G; Buckley MF; Roscioli T
    Am J Med Genet A; 2008 Jan; 146A(2):212-8. PubMed ID: 18076102
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice.
    Iwata T; Li CL; Deng CX; Francomano CA
    Hum Mol Genet; 2001 Jun; 10(12):1255-64. PubMed ID: 11406607
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
    Bellus GA; Spector EB; Speiser PW; Weaver CA; Garber AT; Bryke CR; Israel J; Rosengren SS; Webster MK; Donoghue DJ; Francomano CA
    Am J Hum Genet; 2000 Dec; 67(6):1411-21. PubMed ID: 11055896
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?
    Mustafa M; Moghrabi N; Bin-Abbas B
    Case Rep Endocrinol; 2014; 2014():840492. PubMed ID: 25505998
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders.
    van Rhijn BW; van Tilborg AA; Lurkin I; Bonaventure J; de Vries A; Thiery JP; van der Kwast TH; Zwarthoff EC; Radvanyi F
    Eur J Hum Genet; 2002 Dec; 10(12):819-24. PubMed ID: 12461689
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans.
    Vajo Z; Francomano CA; Wilkin DJ
    Endocr Rev; 2000 Feb; 21(1):23-39. PubMed ID: 10696568
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutant FGFR3 associated with SADDAN disease causes cytoskeleton disorganization through PLCĪ³1/Src-mediated paxillin hyperphosphorylation.
    Montone R; Romanelli MG; Baruzzi A; Ferrarini F; Liboi E; Lievens PM
    Int J Biochem Cell Biol; 2018 Feb; 95():17-26. PubMed ID: 29242050
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations.
    Alatzoglou KS; Hindmarsh PC; Brain C; Torpiano J; Dattani MT
    J Clin Endocrinol Metab; 2009 Oct; 94(10):3959-63. PubMed ID: 19622626
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders.
    Terasawa S; Kato A; Nishizawa H; Kato T; Yoshizawa H; Noda Y; Miyazaki J; Ito M; Sekiya T; Fujii T; Kurahashi H
    Congenit Anom (Kyoto); 2019 Jan; 59(1):4-10. PubMed ID: 29542187
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with
    Manikkam SA; Chetcuti K; Howell KB; Savarirayan R; Fink AM; Mandelstam SA
    AJNR Am J Neuroradiol; 2018 Feb; 39(2):380-384. PubMed ID: 29170271
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Achondroplasia: Development, pathogenesis, and therapy.
    Ornitz DM; Legeai-Mallet L
    Dev Dyn; 2017 Apr; 246(4):291-309. PubMed ID: 27987249
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants.
    Chang IJ; Sun A; Bouchard ML; Kamps SE; Hale S; Done S; Goldberg MJ; Glass IA
    Am J Med Genet A; 2018 Jul; 176(7):1675-1679. PubMed ID: 30160829
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Case of a Japanese female presenting severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) syndrome with a K650M mutation in the fibroblast growth factor receptor 3 gene].
    Adachi M
    No To Hattatsu; 2008 Nov; 40(6):478-82. PubMed ID: 19039991
    [TBL] [Abstract][Full Text] [Related]  

  • 19. SADDAN syndrome.
    Kumar KV; Shaikh A; Sharma R; Prusty P
    J Pediatr Endocrinol Metab; 2011; 24(9-10):851-2. PubMed ID: 22145492
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [From gene to disease; achondroplasia and other skeletal dysplasias due to an activating mutation in the fibroblast growth factor].
    van Ravenswaaij-Arts CM; Losekoot M
    Ned Tijdschr Geneeskd; 2001 Jun; 145(22):1056-9. PubMed ID: 11414167
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.