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Items: 1 to 20 of 454

1.

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. doi: 10.1002/ajmg.a.32880.

PMID:
19449430
2.

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 3;63(1):148-54.

PMID:
8723101
3.

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.

PMID:
12833394
4.

Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.

Camera G, Baldi M, Strisciuglio G, Concolino D, Mastroiacovo P, Baffico M.

Am J Med Genet. 2001 Dec 15;104(4):277-81. Erratum in: Am J Med Genet 2002 Jun 15;110(2):193.

PMID:
11754059
5.

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;5(4):509-12.

6.

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

Heuertz S, Le Merrer M, Zabel B, Wright M, Legeai-Mallet L, Cormier-Daire V, Gibbs L, Bonaventure J.

Eur J Hum Genet. 2006 Dec;14(12):1240-7. Epub 2006 Aug 16. Erratum in: Eur J Hum Genet. 2006 Dec;14(12):1321.

7.

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. doi: 10.4238/vol10-1gmr923.

8.

The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor.

Bonaventure J, Horne WC, Baron R.

FEBS J. 2007 Jun;274(12):3078-93. Epub 2007 May 17. Erratum in: FEBS J. 2007 Aug;274(15):4008. Gibbs, Linda [removed].

9.

Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.

Bellus GA, Spector EB, Speiser PW, Weaver CA, Garber AT, Bryke CR, Israel J, Rosengren SS, Webster MK, Donoghue DJ, Francomano CA.

Am J Hum Genet. 2000 Dec;67(6):1411-21. Epub 2000 Oct 27.

11.

Thanatophoric dysplasia: roentgenographic findings and detection of a de novo mutation of FGFR3 gene in a Thai patient.

Wattanasirichaigoon D, Charoenpipop D.

J Med Assoc Thai. 2006 Aug;89(8):1287-92.

PMID:
17048442
12.

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;45 Suppl:S171-4.

13.

FGFR3 gene mutations in Chinese cases of thanatophoric dysplasia type 1.

Yang Y, Li DZ.

Fetal Diagn Ther. 2009;26(2):90-2. doi: 10.1159/000238120. Epub 2009 Sep 11.

PMID:
19752524
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.

PMID:
10360402
15.

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;17(4):407-12.

PMID:
17375526
16.

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.

PMID:
7773297
17.

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;417:33-8.

PMID:
9055906
19.

Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal.

Almeida MR, Campos-Xavier AB, Medeira A, Cordeiro I, Sousa AB, Lima M, Soares G, Rocha M, Saraiva J, Ramos L, Sousa S, Marcelino JP, Correia A, Santos HG.

Clin Genet. 2009 Feb;75(2):150-6. doi: 10.1111/j.1399-0004.2008.01123.x.

PMID:
19215249
20.

Reduced binding of FGF1 to mutant fibroblast growth factor receptor 3.

Khnykin D, Olsnes S.

Growth Factors. 2006 Jun;24(2):111-9.

PMID:
16801131
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