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Journal Abstract Search

371 related items for PubMed ID: 11055896

  • 21. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
    Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, Wilcox WR, Rimoin DL, Cohn DH, Wasmuth JJ.
    Nat Genet; 1995 Mar; 9(3):321-8. PubMed ID: 7773297
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  • 23. Genotype and phenotype in hypochondroplasia.
    Ramaswami U, Rumsby G, Hindmarsh PC, Brook CG.
    J Pediatr; 1998 Jul; 133(1):99-102. PubMed ID: 9672519
    [Abstract] [Full Text] [Related]

  • 24. 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
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  • 25. Mouse models orthologous to FGFR3-related skeletal dysplasias.
    Brodie SG, Deng CX.
    Pediatr Pathol Mol Med; 2003 Apr; 22(1):87-103. PubMed ID: 12687892
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  • 26. 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 15; 146A(2):212-8. PubMed ID: 18076102
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  • 27. G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.
    Katsumata N, Kuno T, Miyazaki S, Mikami S, Nagashima-Miyokawa A, Nimura A, Horikawa R, Tanaka T.
    Endocr J; 1998 Apr 15; 45 Suppl():S171-4. PubMed ID: 9790257
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  • 28. Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia.
    Bonaventure J, Rousseau F, Legeai-Mallet L, Le Merrer M, Munnich A, Maroteaux P.
    Acta Paediatr Suppl; 1996 Oct 15; 417():33-8. PubMed ID: 9055906
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  • 29. [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 02; 145(22):1056-9. PubMed ID: 11414167
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  • 30. Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.
    Bonaventure J, Rousseau F, Legeai-Mallet L, Le Merrer M, Munnich A, Maroteaux P.
    Am J Med Genet; 1996 May 03; 63(1):148-54. PubMed ID: 8723101
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  • 31. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
    Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW.
    Nat Genet; 1995 Dec 03; 11(4):462-4. PubMed ID: 7493034
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  • 32. [Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia].
    Mancilla EE, Poggi H, Repetto G, García C, Foradori A, Cattani A.
    Rev Med Chil; 2003 Dec 03; 131(12):1405-10. PubMed ID: 15022403
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  • 34. Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372C, and T375C mutations in bladder cancer.
    Dodurga Y, Tataroglu C, Kesen Z, Satiroglu-Tufan NL.
    Genet Mol Res; 2011 Jan 18; 10(1):86-95. PubMed ID: 21264819
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  • 37. Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia.
    Webster MK, Donoghue DJ.
    EMBO J; 1996 Feb 01; 15(3):520-7. PubMed ID: 8599935
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  • 38. p.Ser348Cys mutation in FGFR3 gene leads to "Mild ACH /Severe HCH" phenotype.
    Bengur FB, Ekmekci CG, Karaarslan E, Gunoz H, Alanay Y.
    Eur J Med Genet; 2020 Feb 01; 63(2):103659. PubMed ID: 31048079
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  • 39. Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.
    Korkmaz HA, Hazan F, Dizdarer C, Tükün A.
    J Clin Res Pediatr Endocrinol; 2012 Dec 01; 4(4):220-2. PubMed ID: 23149434
    [Abstract] [Full Text] [Related]

  • 40. Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data.
    Tsai FJ, Tsai CH, Chang JG, Wu JY.
    Am J Med Genet; 1999 Sep 17; 86(3):300-1. PubMed ID: 10482885
    [No Abstract] [Full Text] [Related]

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