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Items: 1 to 20 of 120

1.

Double heterozygosity in bone growth disorders: four new observations and review.

Flynn MA, Pauli RM.

Am J Med Genet A. 2003 Sep 1;121A(3):193-208. Review.

PMID:
12923858
2.

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
3.

[Hypochondroplasia: importance of radiological findings in the differential diagnosis of short statures of different origin].

Iannaccone R, Tiberti AC.

Recenti Prog Med. 2001 Jul-Aug;92(7-8):483-8. Review. Italian.

PMID:
11475794
4.
5.

Achondroplasia-hypochondroplasia complex in a newborn infant.

Huggins MJ, Smith JR, Chun K, Ray PN, Shah JK, Whelan DT.

Am J Med Genet. 1999 Jun 11;84(5):396-400.

PMID:
10360392
6.

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.

7.

Homozygous N540K hypochondroplasia--first report: radiological and clinical features.

De Rosa ML, Fano V, Araoz HV, Chertkoff L, Obregon MG.

Am J Med Genet A. 2014 Jul;164A(7):1784-8. doi: 10.1002/ajmg.a.36504. Epub 2014 Apr 8.

PMID:
24715719
8.

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
9.

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.

10.

Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3.

Colvin JS, Bohne BA, Harding GW, McEwen DG, Ornitz DM.

Nat Genet. 1996 Apr;12(4):390-7.

PMID:
8630492
12.

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
13.

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
14.

[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
15.

[From gene to disease; achondroplasia and other skeletal dysplasias due to an activating mutation in the fibroblast growth factor].

van Ravenswaaij-Arts CM, Losekoot M.

Ned Tijdschr Geneeskd. 2001 Jun 2;145(22):1056-9. Review. Dutch.

PMID:
11414167
16.

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
17.

Fibroblast growth factor receptor 3 and the human chondrodysplasias.

Horton WA.

Curr Opin Pediatr. 1997 Aug;9(4):437-42. Review.

PMID:
9300204
19.
20.

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

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