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Results: 1 to 20 of 162

Similar articles for PubMed (Select 7913883)

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.

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.

3.

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
4.

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
5.

[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
6.

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.

7.

[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
8.
10.

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.

11.

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
12.
13.

Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients.

Ikegawa S, Fukushima Y, Isomura M, Takada F, Nakamura Y.

Hum Genet. 1995 Sep;96(3):309-11.

PMID:
7649548
14.

Mutation in the gene encoding the fibroblast growth factor receptor-3 in Korean children with achondroplasia.

Yang SW, Kitoh H, Yamada Y, Goto H, Ogasawara N.

Acta Paediatr Jpn. 1998 Aug;40(4):324-7.

PMID:
9745773
16.

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
17.

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
18.

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
19.

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
20.

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
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