PubMed

Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations.

Alatzoglou KS, Hindmarsh PC, Brain C, Torpiano J, Dattani MT.

J Clin Endocrinol Metab. 2009 Oct;94(10):3959-63. Epub 2009 Jul 21.PMID: 19622626 [PubMed - indexed for MEDLINE]Related articles

Thanatophoric dysplasia caused by double missense FGFR3 mutations.

Pannier S, Martinovic J, Heuertz S, Delezoide AL, Munnich A, Schibler L, Serre V, Legeai-Mallet L.

Am J Med Genet A. 2009 Jun;149A(6):1296-301.PMID: 19449430 [PubMed - indexed for MEDLINE]Related articles

Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al.

Friez MJ, Wilson JA.

Eur J Hum Genet. 2008 Mar;16(3):277-8. Epub 2007 Sep 26. No abstract available. PMID: 17895900 [PubMed - indexed for MEDLINE]Related articlesFree article

Distraction osteogenesis of the lower extremity in patients with achondroplasia/hypochondroplasia treated with transplantation of culture-expanded bone marrow cells and platelet-rich plasma.

Kitoh H, Kitakoji T, Tsuchiya H, Katoh M, Ishiguro N.

J Pediatr Orthop. 2007 Sep;27(6):629-34.PMID: 17717461 [PubMed - indexed for MEDLINE]Related articles

Sustained phosphorylation of mutated FGFR3 is a crucial feature of genetic dwarfism and induces apoptosis in the ATDC5 chondrogenic cell line via PLCgamma-activated STAT1.

Harada D, Yamanaka Y, Ueda K, Nishimura R, Morishima T, Seino Y, Tanaka H.

Bone. 2007 Aug;41(2):273-81. Epub 2007 Feb 9.PMID: 17561467 [PubMed - indexed for MEDLINE]Related articles

Concentrations of organochlorine pollutants in mothers who gave birth to neonates with congenital hypothyroidism.

Nagayama J, Kohno H, Kunisue T, Kataoka K, Shimomura H, Tanabe S, Konishi S.

Chemosphere. 2007 Jun;68(5):972-6. Epub 2007 Feb 20.PMID: 17307219 [PubMed - indexed for MEDLINE]Related articles

Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS.

Santos HG, Almeida M, Fernandes H, Wilkie AO.

Am J Med Genet A. 2007 Feb 15;143(4):355-9. Erratum in: Am J Med Genet A. 2008 May 1;146A(9):1234. Wilkie, Andrew [corrected to Wilkie, Andrew O M]. PMID: 17256796 [PubMed - indexed for MEDLINE]Related articles

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

Heuertz S, Le Merrer M, Zabel B, Wright M, Legeai-Mallet L, Cormier-Daire V, Gibbs L, Bonaventure J.

Eur J Hum Genet. 2006 Dec;14(12):1240-7. Epub 2006 Aug 16. Erratum in: Eur J Hum Genet. 2006 Dec;14(12):1321. PMID: 16912704 [PubMed - indexed for MEDLINE]Related articlesFree article

Skin behavior during leg lengthening in patients with achondroplasia and hypochondroplasia: a short-term observation during leg lengthening.

Hiraki S, Nakamura I, Okazaki H, Nakamura K, Kurokawa T.

J Orthop Sci. 2006 May;11(3):267-71.PMID: 16721528 [PubMed - indexed for MEDLINE]Related articles

Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia.

Shin YL, Choi JH, Kim GH, Yoo HW.

J Pediatr Endocrinol Metab. 2005 Oct;18(10):999-1005.PMID: 16355813 [PubMed - indexed for MEDLINE]Related articles

Prenatal diagnosis of hypochondroplasia: three-dimensional multislice computed tomography findings and molecular analysis.

Bonnefoy O, Delbosc JM, Maugey-Laulom B, Lacombe D, Gaye D, Diard F.

Fetal Diagn Ther. 2006;21(1):18-21.PMID: 16354969 [PubMed - indexed for MEDLINE]Related articles

Rapid combined genotyping assay for four achondroplasia and hypochondroplasia mutations by real-time PCR with multiple detection probes.

Schrijver I, Lay MJ, Zehnder JL.

Genet Test. 2004 Summer;8(2):185-9.PMID: 15345118 [PubMed - indexed for MEDLINE]Related articles

SHOX mutations in a family and a fetus with Langer mesomelic dwarfism.

Thomas NS, Maloney V, Bass P, Mulik V, Wellesley D, Castle B.

Am J Med Genet A. 2004 Jul 15;128A(2):179-84.PMID: 15214013 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia.

Tanaka N, Katsumata N, Horikawa R, Tanaka T.

Endocr J. 2003 Feb;50(1):69-75.PMID: 12733711 [PubMed - indexed for MEDLINE]Related articlesFree article

Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.

Camera G, Baldi M, Strisciuglio G, Concolino D, Mastroiacovo P, Baffico M.

Am J Med Genet. 2001 Dec 15;104(4):277-81. Erratum in: Am J Med Genet 2002 Jun 15;110(2):193. PMID: 11754059 [PubMed - indexed for MEDLINE]Related articles

Limb lengthening in short stature patients.

Aldegheri R, Dall'Oca C.

J Pediatr Orthop B. 2001 Jul;10(3):238-47.PMID: 11497369 [PubMed - indexed for MEDLINE]Related articles

Diagnosis of hypochondroplasia: the role of radiological interpretation. Italian Study Group for Hypochondroplasia.

Prinster C, Del Maschio M, Beluffi G, Maghnie M, Weber G, Del Maschio A, Chiumello G.

Pediatr Radiol. 2001 Mar;31(3):203-8.PMID: 11297088 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

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]Related articles