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Items: 1 to 20 of 94

1.

Treatment of varus deformities of the lower limbs in patients with achondroplasia and hypochondroplasia.

Kaissi AA, Farr S, Ganger R, Hofstaetter JG, Klaushofer K, Grill F.

Open Orthop J. 2013;7:33-9. doi: 10.2174/1874325001307010033. Epub 2013 Feb 8.

2.

Early and late fracture following extensive limb lengthening in patients with achondroplasia and hypochondroplasia.

Kitoh H, Mishima K, Matsushita M, Nishida Y, Ishiguro N.

Bone Joint J. 2014 Sep;96-B(9):1269-73. doi: 10.1302/0301-620X.96B9.33840.

PMID:
25183602
3.

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
4.

[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
5.

Correction of lower extremity angular deformities in skeletal dysplasia with hemiepiphysiodesis: a preliminary report.

Yilmaz G, Oto M, Thabet AM, Rogers KJ, Anticevic D, Thacker MM, Mackenzie WG.

J Pediatr Orthop. 2014 Apr-May;34(3):336-45. doi: 10.1097/BPO.0000000000000089.

PMID:
23965916
6.

Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.

Chitayat D, Fernandez B, Gardner A, Moore L, Glance P, Dunn M, Chun K, Sgro M, Ray P, Allingham-Hawkins D.

Am J Med Genet. 1999 Jun 11;84(5):401-5.

PMID:
10360393
7.

[Achondroplasia and hypochondroplasia in paediatric orthopaedics].

Correll J.

Orthopade. 2008 Jan;37(1):40-8. doi: 10.1007/s00132-007-1182-4. German.

PMID:
18210083
8.

Children with short-limbed short stature in pediatric endocrinological services in Japan.

Hasegawa K, Tanaka H.

Pediatr Int. 2014 Dec;56(6):809-12. doi: 10.1111/ped.12511. Epub 2014 Nov 28. Review.

PMID:
25244068
9.

Lengthening of the lower limbs in patients with achondroplasia and hypochondroplasia.

Yasui N, Kawabata H, Kojimoto H, Ohno H, Matsuda S, Araki N, Shimomura Y, Ochi T.

Clin Orthop Relat Res. 1997 Nov;(344):298-306.

PMID:
9372781
10.

Windswept lower limb deformities in patients with hypophosphataemic rickets.

Al Kaissi A, Farr S, Ganger R, Klaushofer K, Grill F.

Swiss Med Wkly. 2013 Dec 6;143:w13904. doi: 10.4414/smw.2013.13904.

11.

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
12.

Bifocal tibial corrective osteotomy with lengthening in achondroplasia: an analysis of results and complications.

Vaidya SV, Song HR, Lee SH, Suh SW, Keny SM, Telang SS.

J Pediatr Orthop. 2006 Nov-Dec;26(6):788-93.

PMID:
17065948
13.

Is bilateral lower limb lengthening appropriate for achondroplasia?: midterm analysis of the complications and quality of life.

Kim SJ, Balce GC, Agashe MV, Song SH, Song HR.

Clin Orthop Relat Res. 2012 Feb;470(2):616-21. doi: 10.1007/s11999-011-1983-y. Epub 2011 Jul 22.

14.

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.

15.

New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia.

Song SH, Balce GC, Agashe MV, Lee H, Hong SJ, Park YE, Kim SG, Song HR.

Am J Med Genet A. 2012 Oct;158A(10):2456-62. doi: 10.1002/ajmg.a.35564. Epub 2012 Aug 17.

PMID:
22903874
16.

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
17.

Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review.

Chen CP, Su YN, Lin TH, Chang TY, Su JW, Wang W.

Taiwan J Obstet Gynecol. 2013 Dec;52(4):580-5. doi: 10.1016/j.tjog.2013.10.023. Review.

18.

The management of the orthopaedic sequelae of meningococcal septicaemia: patients treated to skeletal maturity.

Park DH, Bradish CF.

J Bone Joint Surg Br. 2011 Jul;93(7):984-9. doi: 10.1302/0301-620X.93B7.26128.

PMID:
21705576
19.

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.

20.

[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

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