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Results: 1 to 20 of 68

1.

Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.

Linnankivi T, Mäkitie O, Valanne L, Toiviainen-Salo S.

Am J Med Genet A. 2012 Dec;158A(12):3119-25. doi: 10.1002/ajmg.a.35642. Epub 2012 Nov 19.

PMID:
23165795
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy.

Bober MB, Taylor M, Heinle R, Mackenzie W.

Am J Med Genet A. 2012 Sep;158A(9):2336-41. doi: 10.1002/ajmg.a.35530. Epub 2012 Aug 7.

PMID:
22888019
[PubMed - indexed for MEDLINE]
4.

A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in young children with FGFR3 N540K-mutated hypochondroplasia.

Rothenbuhler A, Linglart A, Piquard C, Bougnères P.

J Pediatr. 2012 May;160(5):849-53. doi: 10.1016/j.jpeds.2011.10.023. Epub 2011 Dec 2.

PMID:
22137367
[PubMed - indexed for MEDLINE]
5.

Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.

Berk DR, Boente Mdel C, Montanari D, Toloza MG, Primc NB, Prado MI, Bayliss SJ, Pique LM, Schrijver I.

Pediatr Dermatol. 2010 Nov-Dec;27(6):664-6.

PMID:
21510009
[PubMed - indexed for MEDLINE]
6.

FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.

Blomberg M, Jeppesen EM, Skovby F, Benfeldt E.

Dermatology. 2010;220(4):297-305. doi: 10.1159/000297575. Epub 2010 May 4. Review.

PMID:
20453470
[PubMed - indexed for MEDLINE]
7.

Limb lengthening in short-stature patients using monolateral and circular external fixators.

Lie CW, Chow W.

Hong Kong Med J. 2009 Aug;15(4):280-4.

PMID:
19652235
[PubMed - indexed for MEDLINE]
Free Article
8.

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. doi: 10.1210/jc.2009-0322. Epub 2009 Jul 21.

PMID:
19622626
[PubMed - indexed for MEDLINE]
9.

Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?

Castro-Feijóo L, Loidi L, Vidal A, Parajes S, Rosón E, Alvarez A, Cabanas P, Barreiro J, Alonso A, Domínguez F, Pombo M.

Eur J Endocrinol. 2008 Sep;159(3):243-9. doi: 10.1530/EJE-08-0393. Epub 2008 Jun 26.

PMID:
18583390
[PubMed - indexed for MEDLINE]
Free Article
10.

Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.

Leroy JG, Nuytinck L, Lambert J, Naeyaert JM, Mortier GR.

Am J Med Genet A. 2007 Dec 15;143A(24):3144-9.

PMID:
18000903
[PubMed - indexed for MEDLINE]
11.

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]
Free Article
12.

High specificity of head circumference to recognize N540K mutation in hypochondroplasia.

Fano V, Gravina LP, Pino MD, Chertkoff L, Barreiro C, Lejarraga H.

Ann Hum Biol. 2005 Nov-Dec;32(6):782-8.

PMID:
16418051
[PubMed - indexed for MEDLINE]
13.

Health supervision for children with achondroplasia.

Trotter TL, Hall JG; American Academy of Pediatrics Committee on Genetics.

Pediatrics. 2005 Sep;116(3):771-83. Erratum in: Pediatrics. 2005 Dec;116(6):1615.

PMID:
16140722
[PubMed - indexed for MEDLINE]
14.

[HYPOCHONDROPLASIA].

KOZLOWSKI K, BARTKOWIAK K.

Pediatr Pol. 1965 Apr;40:379-90. Polish. No abstract available.

PMID:
14348699
[PubMed - indexed for MEDLINE]
15.

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]
16.

Pitfall in diagnosing growth hormone deficiency in a hypochondroplastic patient with a delayed puberty.

Meyer MF, Menken KU, Zimny S, Hellmich B, Schatz H.

Exp Clin Endocrinol Diabetes. 2003 May;111(3):177-81.

PMID:
12784193
[PubMed - indexed for MEDLINE]
17.

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]
Free Article
18.

Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.

Thauvin-Robinet C, Faivre L, Lewin P, De Monléon JV, François C, Huet F, Couailler JF, Campos-Xavier AB, Bonaventure J, Le Merrer M.

Am J Med Genet A. 2003 May 15;119A(1):81-4. No abstract available.

PMID:
12707965
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

Surgical treatment of lumbar stenosis in achondroplasia.

Thomeer RT, van Dijk JM.

J Neurosurg. 2002 Apr;96(3 Suppl):292-7.

PMID:
11990837
[PubMed - indexed for MEDLINE]

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