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Results: 14

Related Articles by Review for PubMed (Select 12400058)

1.

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
2.

[From gene to disease; craniosynostosis syndromes due to FGFR2-mutation].

van Ravenswaaij-Arts CM, van den Ouweland AM, Hoogeboom AJ, Herbergs J, Pals G.

Ned Tijdschr Geneeskd. 2002 Jan 12;146(2):63-6. Review. Dutch.

PMID:
11820058
3.

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
4.

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
5.

Craniosynostosis and related limb anomalies.

Wilkie AO, Oldridge M, Tang Z, Maxson RE Jr.

Novartis Found Symp. 2001;232:122-33; discussion 133-43. Review.

PMID:
11277076
6.

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
7.

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
8.

Craniosynostosis: genes and mechanisms.

Wilkie AO.

Hum Mol Genet. 1997;6(10):1647-56. Review.

9.

Pfeiffer syndrome type 2: further delineation and review of the literature.

Plomp AS, Hamel BC, Cobben JM, Verloes A, Offermans JP, Lajeunie E, Fryns JP, de Die-Smulders CE.

Am J Med Genet. 1998 Jan 23;75(3):245-51. Review.

PMID:
9475590
10.
11.

Apert and Crouzon syndromes: clinical findings, genes and extracellular matrix.

Carinci F, Pezzetti F, Locci P, Becchetti E, Carls F, Avantaggiato A, Becchetti A, Carinci P, Baroni T, Bodo M.

J Craniofac Surg. 2005 May;16(3):361-8. Review.

PMID:
15915098
12.

Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature.

Nazzaro A, Della Monica M, Lonardo F, Di Blasi A, Baffico M, Baldi M, Nazzaro G, De Placido G, Scarano G.

Prenat Diagn. 2004 Nov;24(11):918-22. Review.

PMID:
15565658
13.

Not Antley-Bixler syndrome.

Gripp KW, Zackai EH, Cohen MM Jr.

Am J Med Genet. 1999 Mar 5;83(1):65-8. Review. No abstract available.

PMID:
10076887
14.

[Antley-Bixler syndrome].

Satokata I.

Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):133-5. Review. Japanese. No abstract available.

PMID:
11057168
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