BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

113 related articles for article (PubMed ID: 19856868)

  • 1. Pfeiffer-like syndrome with holoprosencephaly: a newborn with maternal smoking and alcohol exposure.
    Su PH; Chen JY; Lee IC; Ng YY; Hu JM; Chen SJ
    Pediatr Neonatol; 2009 Oct; 50(5):234-8. PubMed ID: 19856868
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Pfeiffer syndrome type 2: further delineation and review of the literature.
    Plomp AS; Hamel BC; Cobben JM; Verloes A; Offermans JP; Lajeunie E; Fryns JP; de Die-Smulders CE
    Am J Med Genet; 1998 Jan; 75(3):245-51. PubMed ID: 9475590
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Negative autoregulation of fibroblast growth factor receptor 2 expression characterizing cranial development in cases of Apert (P253R mutation) and Pfeiffer (C278F mutation) syndromes and suggesting a basis for differences in their cranial phenotypes.
    Britto JA; Moore RL; Evans RD; Hayward RD; Jones BM
    J Neurosurg; 2001 Oct; 95(4):660-73. PubMed ID: 11596961
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
    Passos-Bueno MR; SertiƩ AL; Richieri-Costa A; Alonso LG; Zatz M; Alonso N; Brunoni D; Ribeiro SF
    Am J Med Genet; 1998 Jul; 78(3):237-41. PubMed ID: 9677057
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2.
    Tsukuno M; Suzuki H; Eto Y
    J Craniofac Genet Dev Biol; 1999; 19(4):183-8. PubMed ID: 10731087
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Pfeiffer syndrome.
    Vogels A; Fryns JP
    Orphanet J Rare Dis; 2006 Jun; 1():19. PubMed ID: 16740155
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene.
    Shotelersuk V; Srivuthana S; Ittiwut C; Theamboonlers A; Mahatumarat C; Poovorawan Y
    Southeast Asian J Trop Med Public Health; 2001 Jun; 32(2):425-8. PubMed ID: 11556600
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation.
    Rossi M; Jones RL; Norbury G; Bloch-Zupan A; Winter RM
    Clin Dysmorphol; 2003 Oct; 12(4):269-74. PubMed ID: 14564217
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.
    Rutland P; Pulleyn LJ; Reardon W; Baraitser M; Hayward R; Jones B; Malcolm S; Winter RM; Oldridge M; Slaney SF
    Nat Genet; 1995 Feb; 9(2):173-6. PubMed ID: 7719345
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Holoprosencephaly as a possible embryonic alcohol effect.
    Ronen GM; Andrews WL
    Am J Med Genet; 1991 Aug; 40(2):151-4. PubMed ID: 1897567
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Craniosynostosis with tracheal sleeve: a patient with Pfeiffer syndrome, tracheal sleeve and additional malformations in whom an FGFR2 mutation was found.
    Zackai EH; McDonald-McGinn DM; Stolle C; Huff DS
    Clin Dysmorphol; 2003 Jul; 12(3):209. PubMed ID: 14564165
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.
    Bellus GA; Gaudenz K; Zackai EH; Clarke LA; Szabo J; Francomano CA; Muenke M
    Nat Genet; 1996 Oct; 14(2):174-6. PubMed ID: 8841188
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [From gene to disease; craniosynostosis syndromes due to FGFR2-mutation].
    van Ravenswaaij-Arts CM; van den Ouweland AM; Hoogeboom AJ; Herbergs J; Pals G
    Ned Tijdschr Geneeskd; 2002 Jan; 146(2):63-6. PubMed ID: 11820058
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Type 3 Pfeiffer syndrome with normal thumbs.
    Kerr NC; Wilroy RS; Kaufman RA
    Am J Med Genet; 1996 Dec; 66(2):138-43. PubMed ID: 8958319
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
    Meyers GA; Orlow SJ; Munro IR; Przylepa KA; Jabs EW
    Nat Genet; 1995 Dec; 11(4):462-4. PubMed ID: 7493034
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 6.