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Items: 1 to 20 of 131

1.

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
2.

Prenatal diagnosis of Pfeiffer syndrome type II.

Blaumeiser B, Loquet P, Wuyts W, Nöthen MM.

Prenat Diagn. 2004 Aug;24(8):644-6.

PMID:
15305355
3.

Prenatal diagnosis of type 2 Pfeiffer syndrome.

Bernstein PS, Gross SJ, Cohen DJ, Tiller GR, Shanske AL, Bombard AT, Marion RW.

Ultrasound Obstet Gynecol. 1996 Dec;8(6):425-8.

4.

Prenatal diagnosis of apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis.

Weber B, Schwabegger AH, Vodopiutz J, Janecke AR, Forstner R, Steiner H.

Fetal Diagn Ther. 2010;27(1):51-6. doi: 10.1159/000262447. Epub 2009 Nov 26.

PMID:
19940464
5.

Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.

Gripp KW, Stolle CA, McDonald-McGinn DM, Markowitz RI, Bartlett SP, Katowitz JA, Muenke M, Zackai EH.

Am J Med Genet. 1998 Jul 24;78(4):356-60.

PMID:
9714439
6.

Pfeiffer syndrome.

Vogels A, Fryns JP.

Orphanet J Rare Dis. 2006 Jun 1;1:19. Review.

7.

Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.

Tartaglia M, Valeri S, Velardi F, Di Rocco C, Battaglia PA.

Hum Genet. 1997 May;99(5):602-6.

PMID:
9150725
8.

Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation.

Okajima K, Robinson LK, Hart MA, Abuelo DN, Cowan LS, Hasegawa T, Maumenee IH, Jabs EW.

Am J Med Genet. 1999 Jul 16;85(2):160-70.

PMID:
10406670
9.

A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene.

Shotelersuk V, Srivuthana S, Ittiwut C, Theamboonlers A, Mahatumarat C, Poovorawan Y.

Southeast Asian J Trop Med Public Health. 2001 Jun;32(2):425-8.

PMID:
11556600
10.
11.

Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings.

Ferreira JC, Carter SM, Bernstein PS, Jabs EW, Glickstein JS, Marion RW, Baergen RN, Gross SJ.

Ultrasound Obstet Gynecol. 1999 Dec;14(6):426-30.

12.

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
13.

Apert syndrome: the current role of prenatal ultrasound and genetic analysis in diagnosis and counselling.

Athanasiadis AP, Zafrakas M, Polychronou P, Florentin-Arar L, Papasozomenou P, Norbury G, Bontis JN.

Fetal Diagn Ther. 2008;24(4):495-8. doi: 10.1159/000181186. Epub 2008 Dec 11.

PMID:
19077386
14.

Prenatal diagnosis of Apert syndrome: report of two cases.

Skidmore DL, Pai AP, Toi A, Steele L, Chitayat D.

Prenat Diagn. 2003 Dec 15;23(12):1009-13.

PMID:
14663839
15.
16.

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.

Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF, et al.

Nat Genet. 1995 Feb;9(2):173-6.

PMID:
7719345
17.

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.

Bellus GA, Gaudenz K, Zackai EH, Clarke LA, Szabo J, Francomano CA, Muenke M.

Nat Genet. 1996 Oct;14(2):174-6.

PMID:
8841188
18.

Prenatal identification of a G338E mutation in FGFR2 in a fetus without sonographic appearance of craniosynostosis.

Chen CP, Chern SR, Lin SP, Wang W, Tsai FJ.

Prenat Diagn. 2003 Feb;23(2):175-6. No abstract available.

PMID:
12575031
19.

Trp290Cys mutation of the FGFR2 gene in a patient with severe Pfeiffer syndrome type 2.

Ariga H, Endo Y, Ujiie N, Ishii T, Ishibashi N, Fujita T, Suzuki H.

Pediatr Int. 2001 Jun;43(3):293-5. No abstract available.

PMID:
11380927
20.

Molecular diagnosis of Apert syndrome in Chinese patients.

Tsai FJ, Tsai CH, Peng CT, Lin SP, Hwu WL, Wang TR, Lee CC, Wu JY.

Acta Paediatr Taiwan. 1999 Jan-Feb;40(1):31-3.

PMID:
10910582

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