BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

184 related articles for article (PubMed ID: 27762162)

  • 1. 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]  

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

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

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

  • 5. 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]  

  • 6. Variable prenatal presentation of Pfeiffer syndrome: Suggested aids to prenatal sonographic diagnosis.
    Saliba S; Morel B; Gonzales M; Sénat MV; Guilbaud L; Jouannic JM; Cassart M; Garel C; Blondiaux E
    Prenat Diagn; 2018 Apr; 38(5):349-356. PubMed ID: 29436723
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Pfeiffer type 2 syndrome: review with updates on its genetics and molecular biology.
    Rai R; Iwanaga J; Dupont G; Oskouian RJ; Loukas M; Oakes WJ; Tubbs RS
    Childs Nerv Syst; 2019 Sep; 35(9):1451-1455. PubMed ID: 31222448
    [TBL] [Abstract][Full Text] [Related]  

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

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 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; 24(4):495-8. PubMed ID: 19077386
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 13():147-150. PubMed ID: 32848441
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 24(1):150-2. PubMed ID: 23348274
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Upper extremity anomalies in Pfeiffer syndrome and mutational correlations.
    Cerrato FE; Nuzzi LC; Theman TA; Taghinia A; Upton J; Labow BI
    Plast Reconstr Surg; 2014 May; 133(5):654e-661e. PubMed ID: 24776567
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 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; 49(3):250-253. PubMed ID: 32954549
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 164A(12):3176-9. PubMed ID: 25251565
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 19(2):165-72. PubMed ID: 18618990
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 85(2):160-70. PubMed ID: 10406670
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 163C(4):259-70. PubMed ID: 24127277
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.