Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 135

1.

Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation.

Manickam K, Donoghue DJ, Meyer AN, Snyder PJ, Prior TW.

Am J Med Genet A. 2014 Jan;164A(1):243-50. doi: 10.1002/ajmg.a.36236.

PMID:
24352917
2.

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.

3.

Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.

Zankl A, Elakis G, Susman RD, Inglis G, Gardener G, Buckley MF, Roscioli T.

Am J Med Genet A. 2008 Jan 15;146A(2):212-8.

PMID:
18076102
4.

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.

5.

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
6.

FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met.

Farmakis SG, Shinawi M, Miller-Thomas M, Radmanesh A, Herman TE.

Skeletal Radiol. 2015 Mar;44(3):441-5. doi: 10.1007/s00256-014-1983-6.

PMID:
25119967
7.

Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.

Couser NL, Pande CK, Turcott CM, Spector EB, Aylsworth AS, Powell CM.

Am J Med Genet A. 2017 Apr;173(4):1097-1101. doi: 10.1002/ajmg.a.38141.

PMID:
28181399
8.

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
11.

Familial acanthosis nigricans due to K650T FGFR3 mutation.

Berk DR, Spector EB, Bayliss SJ.

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

PMID:
17875876
12.
13.

Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele.

Rump P, Letteboer TG, Gille JJ, Torringa MJ, Baerts W, van Gestel JP, Verheij JB, van Essen AJ.

Am J Med Genet A. 2006 Feb 1;140(3):284-90.

PMID:
16411219
14.

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
15.

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. Erratum in: Eur J Hum Genet. 2006 Dec;14(12):1321.

16.

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.

PMID:
19622626
17.

Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?

Mustafa M, Moghrabi N, Bin-Abbas B.

Case Rep Endocrinol. 2014;2014:840492. doi: 10.1155/2014/840492.

18.

FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism.

He L, Shobnam N, Wimley WC, Hristova K.

J Biol Chem. 2011 Apr 15;286(15):13272-81. doi: 10.1074/jbc.M110.205583.

19.

Effect of the G375C and G346E achondroplasia mutations on FGFR3 activation.

He L, Serrano C, Niphadkar N, Shobnam N, Hristova K.

PLoS One. 2012;7(4):e34808. doi: 10.1371/journal.pone.0034808.

20.

Supplemental Content

Support Center