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Items: 1 to 20 of 188

1.

Genotype and phenotype in hypochondroplasia.

Ramaswami U, Rumsby G, Hindmarsh PC, Brook CG.

J Pediatr. 1998 Jul;133(1):99-102.

PMID:
9672519
2.

[Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia].

Mancilla EE, Poggi H, Repetto G, García C, Foradori A, Cattani A.

Rev Med Chil. 2003 Dec;131(12):1405-10. Spanish.

PMID:
15022403
3.

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
4.

Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia.

Grigelioniené G, Eklöf O, Laurencikas E, Ollars B, Hertel NT, Dumanski JP, Hagenäs L.

Acta Paediatr. 2000 Sep;89(9):1072-6.

PMID:
11071087
5.

Clinical and genetic heterogeneity of hypochondroplasia.

Rousseau F, Bonaventure J, Legeai-Mallet L, Schmidt H, Weissenbach J, Maroteaux P, Munnich A, Le Merrer M.

J Med Genet. 1996 Sep;33(9):749-52.

6.

[Gly380Arg and Asn540Lys mutations of fibroblast growth factor receptor 3 in achondroplasia and hypochndroplasia in the Spanish population].

Ezquieta Zubicaray B, Iguacel AO, Varela Junquera JM, Jariego Fente CM, González Gancedo P, Gracia Bouthelier R.

Med Clin (Barc). 1999 Mar 6;112(8):290-3. Spanish.

PMID:
10207844
7.

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
8.

Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia.

Grigelioniene G, Eklöf O, Ivarsson SA, Westphal O, Neumeyer L, Kedra D, Dumanski J, Hagenäs L.

Hum Genet. 2000 Aug;107(2):145-9.

PMID:
11030412
9.

A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online.

Grigelioniené G, Hagenäs L, Eklöf O, Neumeyer L, Haereid PE, Anvret M.

Hum Mutat. 1998;11(4):333.

PMID:
10215410
10.

FGFR3 gene mutations in transmembrane domain in Chinese achondroplasia and hypochondroplasia patients.

Yan-Ling G, Ji-Hong N, Guo-Qiang L, Wei W, De-Fen W.

Horm Res. 1998;49 Suppl 1:57. No abstract available.

PMID:
9554479
11.

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.

12.

Genotype phenotype correlation in achondroplasia and hypochondroplasia.

Matsui Y, Yasui N, Kimura T, Tsumaki N, Kawabata H, Ochi T.

J Bone Joint Surg Br. 1998 Nov;80(6):1052-6.

13.

A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia.

Fofanova OV, Takamura N, Kinoshita E, Meerson EM, Iljina VK, Nechvolodova OL, Evgrafov OV, Peterkova VA, Yamashita S.

Endocr J. 1998 Dec;45(6):791-5.

14.

Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia.

Ross JL, Bellus G, Scott CI Jr, Abboudi J, Grigelioniene G, Zinn AR.

Am J Med Genet A. 2003 Jan 1;116A(1):61-5.

PMID:
12476453
15.
16.

Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association.

Angle B, Hersh JH, Christensen KM.

Clin Genet. 1998 Nov;54(5):417-20.

PMID:
9842995
17.

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
18.

[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
19.

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

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