142 related articles for article (PubMed ID: 34909104)
1. Pfeiffer syndrome type 3 with FGR2 c.1052C>G (p.Ser351Cys) variant in West Africa: a case report.
Danso KA; Akuaku RS; Young FNA; Wiafe SA
Pan Afr Med J; 2021; 40():136. PubMed ID: 34909104
[TBL] [Abstract][Full Text] [Related]
2. Pfeiffer syndrome.
Vogels A; Fryns JP
Orphanet J Rare Dis; 2006 Jun; 1():19. PubMed ID: 16740155
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report.
Hackett A; Rowe L
Clin Dysmorphol; 2006 Oct; 15(4):207-210. PubMed ID: 16957473
[TBL] [Abstract][Full Text] [Related]
5. [Syndromes 2. Pfeiffer syndrome].
Freihofer HP
Ned Tijdschr Tandheelkd; 1998 Jul; 105(7):245-6. PubMed ID: 11928428
[TBL] [Abstract][Full Text] [Related]
6. 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. Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.
Piccione M; Antona V; Niceta M; Fabiano C; Martines M; Bianchi A; Corsello G
Eur J Pediatr; 2009 Sep; 168(9):1135-9. PubMed ID: 19066959
[TBL] [Abstract][Full Text] [Related]
8. Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.
Gripp KW; Stolle CA; McDonald-McGinn DM; Markowitz RI; Bartlett SP; Katowitz JA; Muenke M; Zackai EH
Am J Med Genet; 1998 Jul; 78(4):356-60. PubMed ID: 9714439
[TBL] [Abstract][Full Text] [Related]
9. Pfeiffer syndrome: systemic and ocular implications.
Harb E; Kran B
Optometry; 2005 Jul; 76(7):352-62. PubMed ID: 16038862
[TBL] [Abstract][Full Text] [Related]
10. Pfeiffer Syndrome type 2--case report.
Oyamada MK; Ferreira HS; Hoff M
Sao Paulo Med J; 2003 Jul; 121(4):176-9. PubMed ID: 14595512
[TBL] [Abstract][Full Text] [Related]
11. Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan.
Koga H; Suga N; Nakamoto T; Tanaka K; Takahashi N
Am J Med Genet A; 2012 Oct; 158A(10):2506-10. PubMed ID: 22965899
[TBL] [Abstract][Full Text] [Related]
12. 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; 85(2):160-70. PubMed ID: 10406670
[TBL] [Abstract][Full Text] [Related]
13. 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; 56(3):412-414. PubMed ID: 28600064
[No Abstract] [Full Text] [Related]
14. 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; 19(2):165-72. PubMed ID: 18618990
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
Nur BG; Pehlivanoğlu S; Mıhçı E; Calışkan M; Demir D; Alper OM; Kayserili H; Lüleci G
Pediatr Neurol; 2014 May; 50(5):482-90. PubMed ID: 24656465
[TBL] [Abstract][Full Text] [Related]
17. 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;
J Matern Fetal Neonatal Med; 2017 Sep; 30(18):2225-2231. PubMed ID: 27762162
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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; 38(5):412-417. PubMed ID: 31002276
[No Abstract] [Full Text] [Related]
20. 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]
[Next] [New Search]