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Results: 1 to 20 of 125

1.

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]
2.

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]
3.

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
4.

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]
5.

Familial acanthosis nigricans due to K650T FGFR3 mutation.

Berk DR, Spector EB, Bayliss SJ.

Arch Dermatol. 2007 Sep;143(9):1153-6.

PMID:
17875876
[PubMed - indexed for MEDLINE]
6.

Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.

Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW.

Nat Genet. 1995 Dec;11(4):462-4.

PMID:
7493034
[PubMed - indexed for MEDLINE]
7.

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.

Bellus GA, Bamshad MJ, Przylepa KA, Dorst J, Lee RR, Hurko O, Jabs EW, Curry CJ, Wilcox WR, Lachman RS, Rimoin DL, Francomano CA.

Am J Med Genet. 1999 Jul 2;85(1):53-65.

PMID:
10377013
[PubMed - indexed for MEDLINE]
8.

[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
[PubMed - indexed for MEDLINE]
9.

A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.

Wilkes D, Rutland P, Pulleyn LJ, Reardon W, Moss C, Ellis JP, Winter RM, Malcolm S.

J Med Genet. 1996 Sep;33(9):744-8.

PMID:
8880573
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.

Tavormina PL, Bellus GA, Webster MK, Bamshad MJ, Fraley AE, McIntosh I, Szabo J, Jiang W, Jabs EW, Wilcox WR, Wasmuth JJ, Donoghue DJ, Thompson LM, Francomano CA.

Am J Hum Genet. 1999 Mar;64(3):722-31.

PMID:
10053006
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3.

Van Esch H, Fryns JE.

Genet Couns. 2004;15(3):375-7. No abstract available.

PMID:
15517832
[PubMed - indexed for MEDLINE]
12.

Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.

Korkmaz HA, Hazan F, Dizdarer C, Tükün A.

J Clin Res Pediatr Endocrinol. 2012 Dec;4(4):220-2. doi: 10.4274/jcrpe.787. Epub 2012 Nov 12.

PMID:
23149434
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

Crouzon with acanthosis nigricans. Further delineation of the syndrome.

Arnaud-López L, Fragoso R, Mantilla-Capacho J, Barros-Núñez P.

Clin Genet. 2007 Nov;72(5):405-10.

PMID:
17935505
[PubMed - indexed for MEDLINE]
17.

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]
18.

Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice.

Iwata T, Li CL, Deng CX, Francomano CA.

Hum Mol Genet. 2001 Jun 1;10(12):1255-64.

PMID:
11406607
[PubMed - indexed for MEDLINE]
Free Article
19.

Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.

Foldynova-Trantirkova S, Wilcox WR, Krejci P.

Hum Mutat. 2012 Jan;33(1):29-41. doi: 10.1002/humu.21636. Epub 2011 Nov 16. Review.

PMID:
22045636
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Long-term survival in typical thanatophoric dysplasia type 1.

Baker KM, Olson DS, Harding CO, Pauli RM.

Am J Med Genet. 1997 Jun 27;70(4):427-36.

PMID:
9182787
[PubMed - indexed for MEDLINE]

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