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Journal Abstract Search

139 related items for PubMed ID: 38802203

  • 21. 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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  • 22. 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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  • 23. 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. PubMed ID: 10406670
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  • 26. Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia.
    Chen CP, Lin SP, Liu YP, Chern SR, Chen SW, Lai ST, Wang W.
    Taiwan J Obstet Gynecol; 2017 Jun 16; 56(3):412-414. PubMed ID: 28600064
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  • 29. Pfeiffer syndrome.
    Vogels A, Fryns JP.
    Orphanet J Rare Dis; 2006 Jun 01; 1():19. PubMed ID: 16740155
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  • 30. Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods.
    Harada A, Miyashita S, Nagai R, Makino S, Murotsuki J.
    Congenit Anom (Kyoto); 2019 Jul 01; 59(4):132-141. PubMed ID: 30132994
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  • 31. Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes.
    Rubio EI, Blask A, Bulas DI.
    Pediatr Radiol; 2016 May 01; 46(5):709-18. PubMed ID: 26914936
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  • 32. 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 May 01; 13():147-150. PubMed ID: 32848441
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  • 35. Bent bone dysplasia (BBD)-FGFR2 type: the radiologic manifestations in early gestation.
    Handa A, Okajima Y, Izumi N, Yamanaka M, Kurihara Y.
    Pediatr Radiol; 2016 Feb 01; 46(2):296-9. PubMed ID: 26446305
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  • 36. Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA.
    Chitty LS, Khalil A, Barrett AN, Pajkrt E, Griffin DR, Cole TJ.
    Prenat Diagn; 2013 May 01; 33(5):416-23. PubMed ID: 23408600
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  • 39. 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 01; 23(2):175-6. PubMed ID: 12575031
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  • 40. Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review.
    Peña-Padilla C, Viramontes-Aguilar L, Tavares-Macías G, Bobadilla-Morales L, L Cunningham M, Park S, Zapata-Aldana E, Corona-Rivera JR.
    Fetal Pediatr Pathol; 2019 Oct 01; 38(5):412-417. PubMed ID: 31002276
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