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Journal Abstract Search

143 related items for PubMed ID: 29436723

  • 1. Variable prenatal presentation of Pfeiffer syndrome: Suggested aids to prenatal sonographic diagnosis.
    Saliba S, Morel B, Gonzales M, Sénat MV, Guilbaud L, Jouannic JM, Cassart M, Garel C, Blondiaux E.
    Prenat Diagn; 2018 Apr; 38(5):349-356. PubMed ID: 29436723
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  • 2. 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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  • 4. 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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  • 5. 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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  • 6. Apert syndrome: A case report of prenatal ultrasound, postmortem cranial CT, and molecular genetic analysis.
    Zhang W, Xue H, Huang D, Ye Y, Chen X.
    J Clin Ultrasound; 2021 Mar; 49(3):250-253. PubMed ID: 32954549
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  • 8. Autopsy Case of Pfeiffer Syndrome Type 2, a Phenotype of Fibroblast Growth Factor Receptor-Associated Craniosynostosis Syndromes, with Tracheal Cartilage Sleeve and Abnormal Hyperplasia of Bronchial Cartilages.
    Katsuragi SY, Hirose E, Arai Y, Otsuki Y, Ohki S, Kobayashi H.
    Am J Case Rep; 2021 Aug 09; 22():e932450. PubMed ID: 34366428
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  • 11. Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report.
    Torres-Canchala L, Castaño D, Silva N, Gómez AM, Victoria A, Pachajoa H.
    Appl Clin Genet; 2020 Aug 09; 13():147-150. PubMed ID: 32848441
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  • 12. 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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  • 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 Dec 15; 24(4):495-8. PubMed ID: 19077386
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  • 16. Progressive development of sonographic features in prenatal diagnosis of Apert syndrome--case report and literature review.
    Respondek-Liberska M, Smigiel R, Zielinski A, Sasiadek MM.
    Ginekol Pol; 2010 Dec 15; 81(12):935-9. PubMed ID: 21391441
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  • 19. Systematic review and meta-analysis of isolated posterior fossa malformations on prenatal ultrasound imaging (part 1): nomenclature, diagnostic accuracy and associated anomalies.
    D'Antonio F, Khalil A, Garel C, Pilu G, Rizzo G, Lerman-Sagie T, Bhide A, Thilaganathan B, Manzoli L, Papageorghiou AT.
    Ultrasound Obstet Gynecol; 2016 Jun 15; 47(6):690-7. PubMed ID: 25970099
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