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Results: 1 to 20 of 46

Similar articles for PubMed (Select 16470795)

1.

Extended mutational analyses of FGFR1 in osteoglophonic dysplasia.

Farrow EG, Davis SI, Mooney SD, Beighton P, Mascarenhas L, Gutierrez YR, Pitukcheewanont P, White KE.

Am J Med Genet A. 2006 Mar 1;140(5):537-9. No abstract available.

PMID:
16470795
2.

Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.

White KE, Cabral JM, Davis SI, Fishburn T, Evans WE, Ichikawa S, Fields J, Yu X, Shaw NJ, McLellan NJ, McKeown C, Fitzpatrick D, Yu K, Ornitz DM, Econs MJ.

Am J Hum Genet. 2005 Feb;76(2):361-7. Epub 2004 Dec 28.

3.

A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1.

Miura K, Miura S, Yoshiura K, Seminara S, Hamaguchi D, Niikawa N, Masuzaki H.

Hum Reprod. 2010 Apr;25(4):1076-80. doi: 10.1093/humrep/deq006. Epub 2010 Feb 6.

4.

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.

Lajeunie E, Heuertz S, El Ghouzzi V, Martinovic J, Renier D, Le Merrer M, Bonaventure J.

Eur J Hum Genet. 2006 Mar;14(3):289-98.

5.

Osteoglophonic dysplasia: A 'common' mutation in a rare disease.

Sow AJ, Ramli R, Latiff ZA, Ichikawa S, Gray AK, Nordin R, Abd Jabar MN, Primuharsa Putra SH, Siar CH, Econs MJ.

Clin Genet. 2010 Aug;78(2):197-8. doi: 10.1111/j.1399-0004.2010.01382.x. Epub 2010 Mar 5. No abstract available.

6.

Osteoglophonic dysplasia: a case report.

Shankar VN, Ajila V, Kumar G.

J Oral Sci. 2010 Mar;52(1):167-71.

7.

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. doi: 10.1002/ajmg.a.32880.

PMID:
19449430
8.

[Bone dysplasia, craniosynostoses, and fibroblast growth factor receptors].

Salamanca-Gómez F.

Gac Med Mex. 1995 May-Jun;131(3):357-8. Spanish. No abstract available.

PMID:
8582577
9.

Skeletal disorders associated with fibroblast growth factor receptor mutations.

De Moerlooze L, Dickson C.

Curr Opin Genet Dev. 1997 Jun;7(3):378-85. Review.

PMID:
9229114
10.

[The molecular genetic background of hereditary craniosynostoses and chondrodysplasias].

Hertz JM, Juncker I, Christensen L, Østergaard JR, Jensen PK.

Ugeskr Laeger. 2001 Sep 3;163(36):4862-7. Review. Danish.

PMID:
11571861
11.

Finding genes involved in human developmental disorders.

Muenke M.

Curr Opin Genet Dev. 1995 Jun;5(3):354-61. Review.

PMID:
7549431
12.

Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients.

Jehee FS, Alonso LG, Cavalcanti DP, Kim C, Wall SA, Mulliken JB, Sun M, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR.

Cleft Palate Craniofac J. 2006 Mar;43(2):148-51.

PMID:
16526918
13.

Craniosynostosis and skeletal dysplasias: fibroblast growth factor receptor defects.

Lewanda AF, Meyers GA, Jabs EW.

Proc Assoc Am Physicians. 1996 Jan;108(1):19-24. Review. No abstract available.

PMID:
8834060
14.

Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings.

Lücke T, Billing H, Sloan EA, Boerkoel CF, Franke D, Zimmering M, Ehrich JH, Das AM.

Am J Med Genet A. 2005 Jun 1;135(2):202-5.

PMID:
15880370
15.
16.

Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.

Roscioli T, Flanagan S, Kumar P, Masel J, Gattas M, Hyland VJ, Glass IA.

Am J Med Genet. 2000 Jul 3;93(1):22-8. Review.

PMID:
10861678
17.

Jackson-Weiss syndrome.

Cohen MM Jr.

Am J Med Genet. 2001 May 15;100(4):325-9. No abstract available.

PMID:
11343324
18.

Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis.

Anderson PJ, Cox TC, Roscioli T, Elakis G, Smithers L, David DJ, Powell B.

J Craniofac Surg. 2007 Mar;18(2):312-4.

PMID:
17414280
19.

A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation.

Hidalgo-Bravo A, Pompa-Mera EN, Kofman-Alfaro S, Gonzalez-Bonilla CR, Zenteno JC.

Am J Med Genet A. 2005 Jul 15;136(2):190-3.

PMID:
15940695
20.

Short-limb skeletal dysplasias and craniosynostosis: what do they have in common?

Cohen MM Jr.

Pediatr Radiol. 1997 May;27(5):442-6. Review.

PMID:
9133360
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