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Journal Abstract Search

196 related items for PubMed ID: 10360402

  • 21. Thanatophoric dysplasia caused by double missense FGFR3 mutations.
    Pannier S, Martinovic J, Heuertz S, Delezoide AL, Munnich A, Schibler L, Serre V, Legeai-Mallet L.
    Am J Med Genet A; 2009 Jun; 149A(6):1296-301. PubMed ID: 19449430
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  • 24. Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation.
    Jung M, Park SH.
    Exp Mol Pathol; 2017 Apr; 102(2):290-295. PubMed ID: 28249712
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  • 25. 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
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  • 26. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level.
    Cohen MM.
    Int J Oral Maxillofac Surg; 1998 Dec; 27(6):451-5. PubMed ID: 9869286
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  • 29. FGFR3 gene mutations in Chinese cases of thanatophoric dysplasia type 1.
    Yang Y, Li DZ.
    Fetal Diagn Ther; 2009 Dec; 26(2):90-2. PubMed ID: 19752524
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  • 30. Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation.
    De Biasio P, Prefumo F, Baffico M, Baldi M, Priolo M, Lerone M, Tomà P, Venturini PL.
    Prenat Diagn; 2000 Oct; 20(10):835-7. PubMed ID: 11038465
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  • 31. Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia.
    Naski MC, Wang Q, Xu J, Ornitz DM.
    Nat Genet; 1996 Jun; 13(2):233-7. PubMed ID: 8640234
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  • 33. Mutations causing achondroplasia and thanatophoric dysplasia alter bFGF-induced calcium signals in human diploid fibroblasts.
    Nguyen HB, Estacion M, Gargus JJ.
    Hum Mol Genet; 1997 May; 6(5):681-8. PubMed ID: 9158142
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  • 34. Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3.
    Chen SW, Chen CP, Wang LK, Chern SR, Wu PC, Chen YN, Lin CJ, Chen WL, Wang W.
    Taiwan J Obstet Gynecol; 2017 Feb; 56(1):87-92. PubMed ID: 28254233
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  • 35. A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors.
    Li C, Chen L, Iwata T, Kitagawa M, Fu XY, Deng CX.
    Hum Mol Genet; 1999 Jan; 8(1):35-44. PubMed ID: 9887329
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  • 36. Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene.
    Pokharel RK, Alimsardjono H, Takeshima Y, Nakamura H, Naritomi K, Hirose S, Onishi S, Matsuo M.
    Biochem Biophys Res Commun; 1996 Oct 03; 227(1):236-9. PubMed ID: 8858131
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  • 37. Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis.
    Martínez-Frías ML, Egüés X, Puras A, Hualde J, de Frutos CA, Bermejo E, Nieto MA, Martínez S.
    Am J Med Genet A; 2011 Jan 03; 155A(1):197-202. PubMed ID: 21204232
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  • 38. Thanatophoric dysplasia type I.
    Chang TK, Wang Y, Liu AM, Tung JC.
    Acta Paediatr Taiwan; 2001 Jan 03; 42(1):39-41. PubMed ID: 11270184
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  • 39. Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.
    Nishimura G, Nakashima E, Mabuchi A, Shimamoto K, Shimamoto T, Shimao Y, Nagai T, Yamaguchi T, Kosaki R, Ohashi H, Makita Y, Ikegawa S.
    J Med Genet; 2004 Jan 03; 41(1):75-9. PubMed ID: 14729840
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  • 40. Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results.
    Sawai H, Komori S, Ida A, Henmi T, Bessho T, Koyama K.
    Prenat Diagn; 1999 Jan 03; 19(1):21-4. PubMed ID: 10073901
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