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Journal Abstract Search

164 related items for PubMed ID: 9843049

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.
    Tavormina PL, Rimoin DL, Cohn DH, Zhu YZ, Shiang R, Wasmuth JJ.
    Hum Mol Genet; 1995 Nov 07; 4(11):2175-7. PubMed ID: 8589699
    [No Abstract] [Full Text] [Related]

  • 5. 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
    [No Abstract] [Full Text] [Related]

  • 6. Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3.
    Nerlich AG, Freisinger P, Bonaventure J.
    Am J Med Genet; 1996 May 03; 63(1):155-60. PubMed ID: 8723102
    [Abstract] [Full Text] [Related]

  • 7. 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 03; 9(3):321-8. PubMed ID: 7773297
    [Abstract] [Full Text] [Related]

  • 8. Long-term survival in typical thanatophoric dysplasia type 1.
    Baker KM, Olson DS, Harding CO, Pauli RM.
    Am J Med Genet; 1997 Jun 27; 70(4):427-36. PubMed ID: 9182787
    [Abstract] [Full Text] [Related]

  • 9. FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association?
    Prontera P, Sensi A, Pilu G, Baldi M, Baffico M, Bonasoni R, Calzolari E.
    Genet Couns; 2006 Jun 27; 17(4):407-12. PubMed ID: 17375526
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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 17; 45 Suppl():S171-4. PubMed ID: 9790257
    [Abstract] [Full Text] [Related]

  • 12. 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 17; 20(10):835-7. PubMed ID: 11038465
    [Abstract] [Full Text] [Related]

  • 13. Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.
    Hyland VJ, Robertson SP, Flanagan S, Savarirayan R, Roscioli T, Masel J, Hayes M, Glass IA.
    Am J Med Genet A; 2003 Jul 15; 120A(2):157-68. PubMed ID: 12833394
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. 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 11; 6(5):681-8. PubMed ID: 9158142
    [Abstract] [Full Text] [Related]

  • 16. 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 11; 22(8):736-7. PubMed ID: 12210587
    [No Abstract] [Full Text] [Related]

  • 17. 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 11; 64(3):722-31. PubMed ID: 10053006
    [Abstract] [Full Text] [Related]

  • 18. Second-trimester molecular diagnosis of a heterozygous 742 --> T (R248C) mutation in the FGFR3 gene in a thanatophoric dysplasia variant following suspicious ultrasound findings.
    Chen CP, Chern SR, Wang W, Wang TY.
    Ultrasound Obstet Gynecol; 2001 Mar 11; 17(3):272-3. PubMed ID: 11309183
    [No Abstract] [Full Text] [Related]

  • 19. Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia.
    Chen CP, Chern SR, Shih JC, Wang W, Yeh LF, Chang TY, Tzen CY.
    Prenat Diagn; 2001 Feb 11; 21(2):89-95. PubMed ID: 11241532
    [Abstract] [Full Text] [Related]

  • 20. 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 11; 27(6):451-5. PubMed ID: 9869286
    [Abstract] [Full Text] [Related]

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