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Items: 1 to 20 of 174

1.

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.

Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ.

Cell. 1994 Jul 29;78(2):335-42.

PMID:
7913883
2.

Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.

Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, Le Merrer M, Munnich A.

Horm Res. 1996;45(1-2):108-10. Review.

PMID:
8742128
3.

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.

Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, Le Merrer M, Munnich A.

Nature. 1994 Sep 15;371(6494):252-4.

PMID:
8078586
4.

[Differentiation of achondroplasia and other similar genetic dwarfism by FGFR3 gene analysis].

Zhang Y, Yu W, Shen M, Fang Q, Fan M.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2000 Aug;17(4):252-5. Chinese.

PMID:
10932008
5.

Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene.

Pehlivan S, Ozkinay F, Okutman O, Coğulu O, Ozcan A, Cankaya T, Ulgenalp A.

Turk J Pediatr. 2003 Apr-Jun;45(2):99-101.

PMID:
12921294
6.

[Detection of fibroblast growth factor receptor 3 gene mutation at nucleotide 1138 site in congenita achondroplasia patients].

Ni J, Lu G, Wang W, Chen F, Qin H, Wang D.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2002 Jun;19(3):205-8. Chinese.

PMID:
12048679
7.
9.

Analysis of the FGFR3 gene in Japanese patients with achondroplasia and hypochondroplasia.

Katsumata N, Mikami S, Nagashima-Miyokawa A, Nimura A, Sato N, Horikawa R, Tanae A, Tanaka T.

Endocr J. 2000 Mar;47 Suppl:S121-4.

10.

Achondroplasia in Sweden caused by the G1138A mutation in FGFR3.

Alderborn A, Anvret M, Gustavson KH, Hagenäs L, Wadelius C.

Acta Paediatr. 1996 Dec;85(12):1506-7.

PMID:
9001669
11.
12.

Chinese achondroplasia is also defined by recurrent G380R mutations of the fibroblast growth factor receptor-3 gene.

Niu DM, Hsiao KJ, Wang NH, Chin LS, Chen CH.

Hum Genet. 1996 Jul;98(1):65-7.

PMID:
8682509
13.

A common FGFR3 gene mutation in hypochondroplasia.

Prinos P, Costa T, Sommer A, Kilpatrick MW, Tsipouras P.

Hum Mol Genet. 1995 Nov;4(11):2097-101.

PMID:
8589686
14.

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.

Bellus GA, McIntosh I, Smith EA, Aylsworth AS, Kaitila I, Horton WA, Greenhaw GA, Hecht JT, Francomano CA.

Nat Genet. 1995 Jul;10(3):357-9.

PMID:
7670477
15.

Predominance of the mutation at 1138 of the cDNA for the fibroblast growth factor receptor 3 in Japanese patients with achondroplasia.

Tonoki H, Nakae J, Tajima T, Shinohara N, Monji J, Satoh S, Fujieda K.

Jpn J Hum Genet. 1995 Dec;40(4):347-9.

PMID:
8851771
16.

Achondroplasia is defined by recurrent G380R mutations of FGFR3.

Bellus GA, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano CA.

Am J Hum Genet. 1995 Feb;56(2):368-73.

17.

A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia.

Stoilov I, Kilpatrick MW, Tsipouras P.

Am J Med Genet. 1995 Jan 2;55(1):127-33.

PMID:
7702086
18.

Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis.

Su YN, Lee CN, Chien SC, Hung CC, Chien YH, Chen CA.

J Hum Genet. 2004;49(8):399-403. Epub 2004 Jun 18.

PMID:
15221641
19.

[Mutations of the fibroblast growth factor receptor 3 gene in achondroplasia].

Zhao P, Ma H, Wang Y, Mi Z, Wu Y, Jiang M, Gao H, Li Y.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Feb 10;16(1):16-8. Chinese.

PMID:
9949234
20.

Accurate diagnosis of a homozygous G1138A mutation in the fibroblast growth factor receptor 3 gene responsible for achondroplasia.

Satiroglu-Tufan NL, Tufan AC, Semerci CN, Bagci H.

Tohoku J Exp Med. 2006 Feb;208(2):103-7.

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