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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

185 related items for PubMed ID: 9677066

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  • 4. 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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  • 7. Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II.
    Chen CP, Chang TY, Lin MH, Chern SR, Su JW, Wang W.
    Taiwan J Obstet Gynecol; 2013 Sep; 52(3):420-5. PubMed ID: 24075385
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  • 9. 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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  • 11. 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 11; 155A(1):197-202. PubMed ID: 21204232
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  • 13. An unusual radiological finding in thanatophoric dysplasia type 1 with common mutation of the fibroblast growth factor receptor-3 (FGFR3) gene (Arg248Cys).
    Camera G, Baldi M, Baffico M, Pozzolo S.
    Am J Med Genet; 1997 Jul 11; 71(1):122-3. PubMed ID: 9215781
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  • 16. 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 11; 45 Suppl():S171-4. PubMed ID: 9790257
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  • 19. Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia.
    Simsek M, Al-Gazali L, Al-Mjeni R, Bayoumi R.
    Clin Biochem; 2003 Mar 11; 36(2):151-3. PubMed ID: 12633765
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  • 20. Thanatophoric dysplasia and cloverleaf skull.
    Langer LO, Yang SS, Hall JG, Sommer A, Kottamasu SR, Golabi M, Krassikoff N.
    Am J Med Genet Suppl; 1987 Mar 11; 3():167-79. PubMed ID: 3130852
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