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204 related items for PubMed ID: 15565658

  • 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. PubMed ID: 15565658
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  • 2. Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II.
    Chen CP, Huang JP, Huang KS, Chen YY, Wu FT, Pan YT, Chiu CL, Wang W.
    Taiwan J Obstet Gynecol; 2024 May; 63(3):387-390. PubMed ID: 38802203
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  • 3. Prenatal diagnosis of Pfeiffer syndrome type II.
    Blaumeiser B, Loquet P, Wuyts W, Nöthen MM.
    Prenat Diagn; 2004 Aug; 24(8):644-6. PubMed ID: 15305355
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  • 4. 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. PubMed ID: 9014285
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  • 5. Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis.
    Giancotti A, D'Ambrosio V, Marchionni E, Squarcella A, Aliberti C, La Torre R, Manganaro L, Pizzuti A, PECRAM Study Group*.
    J Matern Fetal Neonatal Med; 2017 Sep; 30(18):2225-2231. PubMed ID: 27762162
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  • 6. 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 Sep; 27(1):51-6. PubMed ID: 19940464
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  • 7. Pfeiffer syndrome.
    Vogels A, Fryns JP.
    Orphanet J Rare Dis; 2006 Jun 01; 1():19. PubMed ID: 16740155
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  • 9. 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 01; 99(5):602-6. PubMed ID: 9150725
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  • 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 01; 14(6):426-30. PubMed ID: 10658283
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  • 14. 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 Dec 01; 24(4):495-8. PubMed ID: 19077386
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  • 15. 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. PubMed ID: 14663839
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  • 18. 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.
    Nat Genet; 1995 Feb 15; 9(2):173-6. PubMed ID: 7719345
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  • 20. 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 15; 23(2):175-6. PubMed ID: 12575031
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