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Journal Abstract Search

183 related items for PubMed ID: 27762162

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  • 2. 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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  • 3. 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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  • 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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  • 8. Pfeiffer syndrome.
    Vogels A, Fryns JP.
    Orphanet J Rare Dis; 2006 Jun 01; 1():19. PubMed ID: 16740155
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  • 11. 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 Jun 01; 24(4):495-8. PubMed ID: 19077386
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  • 13. FGFR1 and FGFR2 mutations in Pfeiffer syndrome.
    Chokdeemboon C, Mahatumarat C, Rojvachiranonda N, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V.
    J Craniofac Surg; 2013 Jan 01; 24(1):150-2. PubMed ID: 23348274
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  • 16. 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 01; 49(3):250-253. PubMed ID: 32954549
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  • 17. Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.
    Bessenyei B, Tihanyi M, Hartwig M, Szakszon K, Oláh É.
    Am J Med Genet A; 2014 Dec 01; 164A(12):3176-9. PubMed ID: 25251565
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  • 18. 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 Dec 01; 19(2):165-72. PubMed ID: 18618990
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  • 19. 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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  • 20. Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
    Roscioli T, Elakis G, Cox TC, Moon DJ, Venselaar H, Turner AM, Le T, Hackett E, Haan E, Colley A, Mowat D, Worgan L, Kirk EP, Sachdev R, Thompson E, Gabbett M, McGaughran J, Gibson K, Gattas M, Freckmann ML, Dixon J, Hoefsloot L, Field M, Hackett A, Kamien B, Edwards M, Adès LC, Collins FA, Wilson MJ, Savarirayan R, Tan TY, Amor DJ, McGillivray G, White SM, Glass IA, David DJ, Anderson PJ, Gianoutsos M, Buckley MF.
    Am J Med Genet C Semin Med Genet; 2013 Nov 16; 163C(4):259-70. PubMed ID: 24127277
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