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2. Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. Passos-Bueno MR; Sertié 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]
3. Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Przylepa KA; Paznekas W; Zhang M; Golabi M; Bias W; Bamshad MJ; Carey JC; Hall BD; Stevenson R; Orlow S; Cohen MM; Jabs EW Nat Genet; 1996 Aug; 13(4):492-4. PubMed ID: 8696350 [TBL] [Abstract][Full Text] [Related]
4. A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. Wilkes D; Rutland P; Pulleyn LJ; Reardon W; Moss C; Ellis JP; Winter RM; Malcolm S J Med Genet; 1996 Sep; 33(9):744-8. PubMed ID: 8880573 [TBL] [Abstract][Full Text] [Related]
5. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Vajo Z; Francomano CA; Wilkin DJ Endocr Rev; 2000 Feb; 21(1):23-39. PubMed ID: 10696568 [TBL] [Abstract][Full Text] [Related]
6. Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. Schweitzer DN; Graham JM; Lachman RS; Jabs EW; Okajima K; Przylepa KA; Shanske A; Chen K; Neidich JA; Wilcox WR Am J Med Genet; 2001 Jan; 98(1):75-91. PubMed ID: 11426459 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. Crouzon with acanthosis nigricans. Further delineation of the syndrome. Arnaud-López L; Fragoso R; Mantilla-Capacho J; Barros-Núñez P Clin Genet; 2007 Nov; 72(5):405-10. PubMed ID: 17935505 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Jabs EW; Li X; Scott AF; Meyers G; Chen W; Eccles M; Mao JI; Charnas LR; Jackson CE; Jaye M Nat Genet; 1994 Nov; 8(3):275-9. PubMed ID: 7874170 [TBL] [Abstract][Full Text] [Related]
11. FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. Meyers GA; Day D; Goldberg R; Daentl DL; Przylepa KA; Abrams LJ; Graham JM; Feingold M; Moeschler JB; Rawnsley E; Scott AF; Jabs EW Am J Hum Genet; 1996 Mar; 58(3):491-8. PubMed ID: 8644708 [TBL] [Abstract][Full Text] [Related]
12. [Frequent missense mutations of fibroblast growth factor receptor (FGFR) gene families in craniofacial syndromes in Japanese patients]. Ishigaki M; Wada C; Toyo-oka Y; Yamabe H; Ohnuki Y; Takada F; Yamazaki Y; Ohtani H Rinsho Byori; 1996 May; 44(5):439-43. PubMed ID: 8676563 [TBL] [Abstract][Full Text] [Related]
13. Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. Couser NL; Pande CK; Turcott CM; Spector EB; Aylsworth AS; Powell CM Am J Med Genet A; 2017 Apr; 173(4):1097-1101. PubMed ID: 28181399 [TBL] [Abstract][Full Text] [Related]
14. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Bellus GA; McIntosh I; Smith EA; Aylsworth AS; Kaitila I; Horton WA; Greenhaw GA; Hecht JT; Francomano CA Nat Genet; 1995 Jul; 10(3):357-9. PubMed ID: 7670477 [TBL] [Abstract][Full Text] [Related]
15. Crouzon syndrome with acanthosis nigricans: case report and mutational analysis. Nagase T; Nagase M; Hirose S; Ohmori K Cleft Palate Craniofac J; 2000 Jan; 37(1):78-82. PubMed ID: 10670894 [TBL] [Abstract][Full Text] [Related]
16. Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. Gorry MC; Preston RA; White GJ; Zhang Y; Singhal VK; Losken HW; Parker MG; Nwokoro NA; Post JC; Ehrlich GD Hum Mol Genet; 1995 Aug; 4(8):1387-90. PubMed ID: 7581378 [TBL] [Abstract][Full Text] [Related]
17. A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans? Sharda S; Panigrahi I; Gupta K; Singhi S; Kumar R Pediatr Dermatol; 2010; 27(1):43-7. PubMed ID: 20199409 [TBL] [Abstract][Full Text] [Related]
18. Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers. Jang JH; Shin KH; Park JG Cancer Res; 2001 May; 61(9):3541-3. PubMed ID: 11325814 [TBL] [Abstract][Full Text] [Related]
19. Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3. Van Esch H; Fryns JE Genet Couns; 2004; 15(3):375-7. PubMed ID: 15517832 [No Abstract] [Full Text] [Related]
20. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Wilkie AO; Slaney SF; Oldridge M; Poole MD; Ashworth GJ; Hockley AD; Hayward RD; David DJ; Pulleyn LJ; Rutland P Nat Genet; 1995 Feb; 9(2):165-72. PubMed ID: 7719344 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]