555 related articles for article (PubMed ID: 7493034)
21. [Acanthosis nigricans in children and Crouzon syndrome].
Lagaude M; Barreau M; Jokic M; Gerard M; DiRocco F; Hadj-Rabia S; Dompmartin A; Verneuil L
Ann Dermatol Venereol; 2014 Nov; 141(11):685-8. PubMed ID: 25442473
[TBL] [Abstract][Full Text] [Related]
22. Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
Park WJ; Meyers GA; Li X; Theda C; Day D; Orlow SJ; Jones MC; Jabs EW
Hum Mol Genet; 1995 Jul; 4(7):1229-33. PubMed ID: 8528214
[TBL] [Abstract][Full Text] [Related]
23. Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
Kan SH; Elanko N; Johnson D; Cornejo-Roldan L; Cook J; Reich EW; Tomkins S; Verloes A; Twigg SR; Rannan-Eliya S; McDonald-McGinn DM; Zackai EH; Wall SA; Muenke M; Wilkie AO
Am J Hum Genet; 2002 Feb; 70(2):472-86. PubMed ID: 11781872
[TBL] [Abstract][Full Text] [Related]
24. Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.
Tartaglia M; Di Rocco C; Lajeunie E; Valeri S; Velardi F; Battaglia PA
Hum Genet; 1997 Nov; 101(1):47-50. PubMed ID: 9385368
[TBL] [Abstract][Full Text] [Related]
25. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
Reardon W; Winter RM; Rutland P; Pulleyn LJ; Jones BM; Malcolm S
Nat Genet; 1994 Sep; 8(1):98-103. PubMed ID: 7987400
[TBL] [Abstract][Full Text] [Related]
26. Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia.
Naski MC; Wang Q; Xu J; Ornitz DM
Nat Genet; 1996 Jun; 13(2):233-7. PubMed ID: 8640234
[TBL] [Abstract][Full Text] [Related]
27. [Crouzon's syndrome with acanthosis nigricans].
Lapunzina P; Fernández MC; Varela Junquera JM; Arberas C; Tello AM; Gracia Bouthelier R
An Esp Pediatr; 2002 Apr; 56(4):342-6. PubMed ID: 11927079
[TBL] [Abstract][Full Text] [Related]
28. FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.
Blomberg M; Jeppesen EM; Skovby F; Benfeldt E
Dermatology; 2010; 220(4):297-305. PubMed ID: 20453470
[TBL] [Abstract][Full Text] [Related]
29. Prenatal exclusion of Crouzon syndrome by mutation analysis of FGFR2.
Phupong V; Srichomthong C; Shotelersuk V
Southeast Asian J Trop Med Public Health; 2004 Dec; 35(4):977-9. PubMed ID: 15916101
[TBL] [Abstract][Full Text] [Related]
30. [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]
31. First-trimester prenatal diagnosis of Crouzon syndrome.
Schwartz M; Kreiborg S; Skovby F
Prenat Diagn; 1996 Feb; 16(2):155-8. PubMed ID: 8650126
[TBL] [Abstract][Full Text] [Related]
32. Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans.
Rymer K; Shiang R; Hsiung A; Pandya A; Bigdeli T; Webb BT; Rhodes J
Mol Genet Genomic Med; 2019 Jun; 7(6):e656. PubMed ID: 31016899
[TBL] [Abstract][Full Text] [Related]
33. Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
Kress W; Collmann H; Büsse M; Halliger-Keller B; Mueller CR
Cytogenet Cell Genet; 2000; 91(1-4):134-7. PubMed ID: 11173845
[TBL] [Abstract][Full Text] [Related]
34. Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras.
Galvin BD; Hart KC; Meyer AN; Webster MK; Donoghue DJ
Proc Natl Acad Sci U S A; 1996 Jul; 93(15):7894-9. PubMed ID: 8755573
[TBL] [Abstract][Full Text] [Related]
35. Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders.
van Rhijn BW; van Tilborg AA; Lurkin I; Bonaventure J; de Vries A; Thiery JP; van der Kwast TH; Zwarthoff EC; Radvanyi F
Eur J Hum Genet; 2002 Dec; 10(12):819-24. PubMed ID: 12461689
[TBL] [Abstract][Full Text] [Related]
36. Functional characterization of a novel FGFR2 mutation, E731K, in craniosynostosis.
Park J; Park OJ; Yoon WJ; Kim HJ; Choi KY; Cho TJ; Ryoo HM
J Cell Biochem; 2012 Feb; 113(2):457-64. PubMed ID: 21928350
[TBL] [Abstract][Full Text] [Related]
37. Phenotypic diversity in patients with craniosynostoses unrelated to Apert syndrome: the role of fibroblast growth factor receptor gene mutations.
Ito S; Sekido K; Kanno H; Sato H; Tanaka M; Yamaguchi K; Yamamoto I
J Neurosurg; 2005 Jan; 102(1 Suppl):23-30. PubMed ID: 16206730
[TBL] [Abstract][Full Text] [Related]
38. Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
Oldridge M; Wilkie AO; Slaney SF; Poole MD; Pulleyn LJ; Rutland P; Hockley AD; Wake MJ; Goldin JH; Winter RM
Hum Mol Genet; 1995 Jun; 4(6):1077-82. PubMed ID: 7655462
[TBL] [Abstract][Full Text] [Related]
39. FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.
Steinberger D; Reinhartz T; Unsöld R; Müller U
Am J Med Genet; 1996 Dec; 66(1):81-6. PubMed ID: 8957519
[TBL] [Abstract][Full Text] [Related]
40. [Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia].
Mancilla EE; Poggi H; Repetto G; García C; Foradori A; Cattani A
Rev Med Chil; 2003 Dec; 131(12):1405-10. PubMed ID: 15022403
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]