These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

125 related articles for article (PubMed ID: 30672749)

  • 21. Sliding hiatal hernia associated with Apert syndrome: a first case report.
    Tastekin A; Kantarci M; Ors R; Ceviz N
    Genet Couns; 2004; 15(3):387-9. PubMed ID: 15517835
    [No Abstract]   [Full Text] [Related]  

  • 22. Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert Syndrome.
    Torres L; Hernández G; Barrera A; Ospina S; Prada R
    Colomb Med (Cali); 2015 Sep; 46(3):150-3. PubMed ID: 26600631
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
    Passos-Bueno MR; Richieri-Costa A; Sertié AL; Kneppers A
    J Med Genet; 1998 Aug; 35(8):677-9. PubMed ID: 9719378
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Apert syndrome: what prenatal radiographic findings should prompt its consideration?
    Quintero-Rivera F; Robson CD; Reiss RE; Levine D; Benson C; Mulliken JB; Kimonis VE
    Prenat Diagn; 2006 Oct; 26(10):966-72. PubMed ID: 16906598
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Detection of the S252W mutation in fibroblast growth factor receptor 2 (FGFR2) in fetal DNA from maternal plasma in a pregnancy affected by Apert syndrome.
    Au PK; Kwok YK; Leung KY; Tang LY; Tang MH; Lau ET
    Prenat Diagn; 2011 Feb; 31(2):218-20. PubMed ID: 21268044
    [No Abstract]   [Full Text] [Related]  

  • 26. Effects of FGFR Signaling on Cell Proliferation and Differentiation of Apert Dental Cells.
    Lu C; Huguley S; Cui C; Cabaniss LB; Waite PD; Sarver DM; Mamaeva OA; MacDougall M
    Cells Tissues Organs; 2016; 201(1):26-37. PubMed ID: 26613250
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Chinese patients with p.Ala172Phe-related Pfeiffer syndrome: a case and literature review.
    Cheng SSW; Lo IF; Luk HM
    Clin Dysmorphol; 2018 Jul; 27(3):84-87. PubMed ID: 29782338
    [No Abstract]   [Full Text] [Related]  

  • 28. 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]  

  • 29. [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]  

  • 30. Diaphragmatic hernia as an early ultrasound manifestation of Apert syndrome.
    Kosiński P; Luterek K; Wielgoś M
    Ginekol Pol; 2016; 87(12):830. PubMed ID: 28098935
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome.
    Chen CP; Su YN; Chang TY; Chern SR; Chen CY; Su JW; Wang W
    Taiwan J Obstet Gynecol; 2013 Jun; 52(2):273-7. PubMed ID: 23915865
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Increased EFG- and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis.
    Miraoui H; Ringe J; Häupl T; Marie PJ
    Hum Mol Genet; 2010 May; 19(9):1678-89. PubMed ID: 20124286
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy-Walker malformation - a yet uncharacterized syndrome.
    Gupta N; Shastri S; Singh PK; Jana M; Mridha A; Verma G; Kabra M
    Clin Genet; 2016 Nov; 90(5):470-471. PubMed ID: 27506516
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Trisomy 22 with congenital diaphragmatic hernia and absence of corpus callosum in a liveborn premature infant.
    Kim EH; Cohen RS; Ramachandran P; Mineta AK; Babu VR
    Am J Med Genet; 1992 Nov; 44(4):437-8. PubMed ID: 1442883
    [TBL] [Abstract][Full Text] [Related]  

  • 35. HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.
    Farrell SA; Sodhi S; Marshall CR; Guerin A; Slavotinek A; Paton T; Chong K; Sirkin WL; Scherer SW; Bérubé-Simard FA; Pilon N
    Am J Med Genet A; 2017 Nov; 173(11):3070-3074. PubMed ID: 28898547
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Apert Syndrome with Preaxial Polydactyly with FGFR2 Gene Mutation.
    Goyal M; Gupta A; Kapoor S; Bhandari A
    Indian J Pediatr; 2020 Jun; 87(6):469-470. PubMed ID: 31879841
    [No Abstract]   [Full Text] [Related]  

  • 37. p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.
    Mundhofir FE; Sistermans EA; Faradz SM; Hamel BC
    Singapore Med J; 2013 Mar; 54(3):e72-5. PubMed ID: 23546041
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings.
    Barry GP; Ny BM; Zackai EH; Grunwald L; Forbes BJ
    Ophthalmic Genet; 2010 Dec; 31(4):193-5. PubMed ID: 20809772
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Ser351Cys mutation in the fibroblast growth factor receptor 2 gene results in severe Pfeiffer syndrome.
    Stevens CA; Roeder ER
    Clin Dysmorphol; 2006 Jul; 15(3):187-188. PubMed ID: 16760743
    [No Abstract]   [Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 7.