Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 157

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
[PubMed - indexed for MEDLINE]
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.

PMID:
7847369
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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.

PMID:
12921294
[PubMed - indexed for MEDLINE]
Free Article
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
[PubMed - indexed for MEDLINE]
8.

Dwarfism in Dexter cattle is not caused by the mutations in FGFR3 responsible for achondroplasia in humans.

Usha AP, Lester DH, Williams JL.

Anim Genet. 1997 Feb;28(1):55-7.

PMID:
9124710
[PubMed - indexed for MEDLINE]
9.

An improved methodology for the detection of the common mutation in the FGFR3 gene responsible for achondroplasia.

Lanning RW, Brown CA.

Hum Mutat. 1997;10(6):496-9.

PMID:
9401015
[PubMed - indexed for MEDLINE]
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.

PMID:
10890199
[PubMed - indexed for MEDLINE]
Free Article
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
[PubMed - indexed for MEDLINE]
12.

Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia.

Naski MC, Wang Q, Xu J, Ornitz DM.

Nat Genet. 1996 Jun;13(2):233-7.

PMID:
8640234
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
15.
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk