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Journal Abstract Search

196 related items for PubMed ID: 10360402

  • 1. Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.
    Brodie SG, Kitoh H, Lachman RS, Nolasco LM, Mekikian PB, Wilcox WR.
    Am J Med Genet; 1999 Jun 11; 84(5):476-80. PubMed ID: 10360402
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  • 5. 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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  • 6. Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.
    Wilcox WR, Tavormina PL, Krakow D, Kitoh H, Lachman RS, Wasmuth JJ, Thompson LM, Rimoin DL.
    Am J Med Genet; 1998 Jul 07; 78(3):274-81. PubMed ID: 9677066
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  • 7. Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
    Rousseau F, el Ghouzzi V, Delezoide AL, Legeai-Mallet L, Le Merrer M, Munnich A, Bonaventure J.
    Hum Mol Genet; 1996 Apr 07; 5(4):509-12. PubMed ID: 8845844
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  • 12. Thanatophoric dysplasia type I with syndactyly.
    Brodie SG, Kitoh H, Lipson M, Sifry-Platt M, Wilcox WR.
    Am J Med Genet; 1998 Nov 16; 80(3):260-2. PubMed ID: 9843049
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  • 15. Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in a novel Col2a1 mutant mouse line.
    Kimura M, Ichimura S, Sasaki K, Masuya H, Suzuki T, Wakana S, Ikegawa S, Furuichi T.
    Biochem Biophys Res Commun; 1998 Nov 16; 468(1-2):86-91. PubMed ID: 26545783
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  • 16. [Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia].
    Rousseau F, Bonaventure J, Le Merrer M, Maroteaux P, Munnich A.
    Ann Endocrinol (Paris); 1996 Nov 16; 57(3):153. PubMed ID: 8949408
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  • 17. Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1.
    Zhen L, Pan M, Han J, Yang X, Liao C, Li DZ.
    J Obstet Gynaecol; 2015 Nov 16; 35(7):685-7. PubMed ID: 25671245
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  • 18. Second trimester molecular diagnosis of a stop codon FGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings.
    Chen CP, Chern SR, Chang TY, Lin CJ, Wang W, Tzen CY.
    Prenat Diagn; 2002 Aug 16; 22(8):736-7. PubMed ID: 12210587
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