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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 [TBL] [Abstract][Full Text] [Related]
4. Pfeiffer syndrome with FGFR2 W290C mutation perinatally presenting extreme proptosis. Chen CP; Huang HK; Liu YP; Chern SR; Su JW; Wang W Taiwan J Obstet Gynecol; 2013 Dec; 52(4):607-10. PubMed ID: 24411056 [No Abstract] [Full Text] [Related]
5. 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 [TBL] [Abstract][Full Text] [Related]
7. [Prenatal diagnosis of Apert syndrome caused by de novo mutation in FGFR2 gene]. Pi G; Zúñiga A; Cervera J; Ortiz M An Pediatr (Barc); 2014 Mar; 80(3):e104-5. PubMed ID: 24286882 [No Abstract] [Full Text] [Related]
11. Usefulness of magnetic resonance imaging for accurate diagnosis of Pfeiffer syndrome type II in utero. Itoh S; Nojima M; Yoshida K Fetal Diagn Ther; 2006; 21(2):168-71. PubMed ID: 16490997 [TBL] [Abstract][Full Text] [Related]
12. Diaphragmatic hernia as the first echographic sign in Apert syndrome. Witters I; Devriendt K; Moerman P; van Hole C; Fryns JP Prenat Diagn; 2000 May; 20(5):404-6. PubMed ID: 10820409 [TBL] [Abstract][Full Text] [Related]
14. A case of Pfeiffer syndrome. Park MS; Yoo JE; Chung J; Yoon SH J Korean Med Sci; 2006 Apr; 21(2):374-8. PubMed ID: 16614535 [TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 19077386 [TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 19940464 [TBL] [Abstract][Full Text] [Related]
17. FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies. Flöttmann R; Knaus A; Zemojtel T; Robinson PN; Mundlos S; Horn D; Spielmann M Eur J Med Genet; 2015 Aug; 58(8):376-80. PubMed ID: 26096994 [TBL] [Abstract][Full Text] [Related]
18. A new case of Pfeiffer syndrome with mutation in FGFR2. Addor MC; Gudinchet F; Laurini RN; Pescia G; Schorderet DF Genet Couns; 1997; 8(4):303-9. PubMed ID: 9457499 [TBL] [Abstract][Full Text] [Related]
19. Prenatal sonographic diagnosis of Carpenter syndrome. Ashby T; Rouse GA; De Lange M J Ultrasound Med; 1994 Nov; 13(11):905-9. PubMed ID: 7837341 [No Abstract] [Full Text] [Related]
20. Pfeiffer syndrome type II discovered perinatally: Report of an observation and review of the literature. Ben Hamouda H; Tlili Y; Ghanmi S; Soua H; Jerbi S; Souissi MM; Hamza H; Sfar MT Diagn Interv Imaging; 2012 Oct; 93(10):785-9. PubMed ID: 22921691 [No Abstract] [Full Text] [Related] [Next] [New Search]