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Items: 12

1.

Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.

Fonseca R, Costa-Lima MA, Cosentino V, Orioli IM.

Am J Med Genet A. 2008 Mar 1;146A(5):658-60. doi: 10.1002/ajmg.a.32176.

PMID:
18247426
2.

A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype.

McGaughran J, Sinnott S, Susman R, Buckley MF, Elakis G, Cox T, Roscioli T.

Clin Dysmorphol. 2006 Apr;15(2):89-93. Review.

PMID:
16531735
3.

Syndromic craniosynostosis, fibroblast growth factor receptor 2 (FGFR2) mutations, and sacrococcygeal eversion presenting as human tails.

Wilkinson CC, Manchester DK, Keating RF, Ketch LL, Winston KR.

Childs Nerv Syst. 2012 Aug;28(8):1221-6. doi: 10.1007/s00381-012-1813-x. Epub 2012 Jun 4. Review.

PMID:
22661218
4.

Unclassifiable craniosynostosis phenotypes, FGFR2 Trp290 mutations, acanthosis nigricans, and unpaired cysteine mutations.

Cohen MM Jr.

Am J Med Genet. 2002 Nov 15;113(1):1-3. Review. No abstract available.

PMID:
12400057
5.

Molecular and cellular bases of syndromic craniosynostoses.

Bonaventure J, El Ghouzzi V.

Expert Rev Mol Med. 2003 Jan 29;5(4):1-17. Review.

PMID:
14987407
6.

[Beare-Stevenson cutis gyrata syndrome].

Kimura J.

Ryoikibetsu Shokogun Shirizu. 2001;(33):259-60. Review. Japanese. No abstract available.

PMID:
11462429
7.

Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation.

Chen CP, Lin SP, Su YN, Chien SC, Tsai FJ, Wang W.

Genet Couns. 2008;19(2):165-72. Review.

PMID:
18618990
8.

P450 oxidoreductase deficiency: a new disorder of steroidogenesis.

Miller WL, Huang N, Pandey AV, Fl├╝ck CE, Agrawal V.

Ann N Y Acad Sci. 2005 Dec;1061:100-8. Review.

PMID:
16467261
9.

Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2.

Shotelersuk V, Ittiwut C, Srivuthana S, Mahatumarat C, Lerdlum S, Wacharasindhu S.

Am J Med Genet. 2002 Nov 15;113(1):4-8. Review.

PMID:
12400058
10.

Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull.

Saal HM, Bulas DI, Allen JF, Vezina LG, Walton D, Rosenbaum KN.

Am J Med Genet. 1995 Jul 17;57(4):573-8. Review.

PMID:
7573131
11.

A new case of bent bone dysplasia--FGFR2 type and review of the literature.

Stichelbout M, Dieux-Coeslier A, Clouqueur E, Collet C, Petit F.

Am J Med Genet A. 2016 Mar;170(3):785-9. doi: 10.1002/ajmg.a.37473. Epub 2015 Nov 17. Review. No abstract available.

PMID:
26573129
12.

FGFR2 abnormalities underlie a spectrum of bone, skin, and cancer pathologies.

Katoh M.

J Invest Dermatol. 2009 Aug;129(8):1861-7. doi: 10.1038/jid.2009.97. Epub 2009 Apr 23. Review.

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