95 related articles for article (PubMed ID: 9061753)
1. Skeletal dysplasias detectable by DNA analysis.
Reardon W
Prenat Diagn; 1996 Dec; 16(13):1221-36. PubMed ID: 9061753
[TBL] [Abstract][Full Text] [Related]
2. [Molecular genetics of congenital skeletal dysplasias related to mutations of fibroblast growth factor receptors].
Sanak M
Med Wieku Rozwoj; 1999; 3(1):67-82. PubMed ID: 10910640
[TBL] [Abstract][Full Text] [Related]
3. [Gly380Arg and Asn540Lys mutations of fibroblast growth factor receptor 3 in achondroplasia and hypochndroplasia in the Spanish population].
Ezquieta Zubicaray B; Iguacel AO; Varela Junquera JM; Jariego Fente CM; González Gancedo P; Gracia Bouthelier R
Med Clin (Barc); 1999 Mar; 112(8):290-3. PubMed ID: 10207844
[TBL] [Abstract][Full Text] [Related]
4. Genetic heterogeneity in skeletal dysplasias.
Frias JL
Ann Clin Lab Sci; 1975; 5(6):435-9. PubMed ID: 812417
[TBL] [Abstract][Full Text] [Related]
5. Craniosynostosis and skeletal dysplasias: fibroblast growth factor receptor defects.
Lewanda AF; Meyers GA; Jabs EW
Proc Assoc Am Physicians; 1996 Jan; 108(1):19-24. PubMed ID: 8834060
[No Abstract] [Full Text] [Related]
6. Skeletal dysplasias: 38 prenatal cases.
Witters I; Moerman P; Fryns JP
Genet Couns; 2008; 19(3):267-75. PubMed ID: 18990981
[TBL] [Abstract][Full Text] [Related]
7. Achondroplastic dog breeds have no mutations in the transmembrane domain of the FGFR-3 gene.
Martínez S; Valdés J; Alonso RA
Can J Vet Res; 2000 Oct; 64(4):243-5. PubMed ID: 11041504
[TBL] [Abstract][Full Text] [Related]
8. COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes.
Chen TL; Posey KL; Hecht JT; Vertel BM
J Cell Biochem; 2008 Feb; 103(3):778-87. PubMed ID: 17570134
[TBL] [Abstract][Full Text] [Related]
9. Bone dysplasias in man: molecular insights.
Francomano CA; McIntosh I; Wilkin DJ
Curr Opin Genet Dev; 1996 Jun; 6(3):301-8. PubMed ID: 8791509
[TBL] [Abstract][Full Text] [Related]
10. No evidence of somatic FGFR3 mutation in various types of carcinoma.
Karoui M; Hofmann-Radvanyi H; Zimmermann U; Couvelard A; Degott C; Faridoni-Laurens L; Ahomadegbe JC; Gazzeri S; Brambilla E; Clerici T; Charbonnier P; Tresallet C; Mitry E; Penna C; Rougier P; Boileau C; Thiery JP; Nordlinger B; Franc B; Radvanyi F
Oncogene; 2001 Aug; 20(36):5059-61. PubMed ID: 11526491
[TBL] [Abstract][Full Text] [Related]
11. Short-limb skeletal dysplasias and craniosynostosis: what do they have in common?
Cohen MM
Pediatr Radiol; 1997 May; 27(5):442-6. PubMed ID: 9133360
[TBL] [Abstract][Full Text] [Related]
12. A new concept of skeletal dysplasias.
Tüysüz B
Turk J Pediatr; 2004; 46(3):197-203. PubMed ID: 15503470
[TBL] [Abstract][Full Text] [Related]
13. Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype.
Merritt TM; Alcorn JL; Haynes R; Hecht JT
J Orthop Res; 2006 Apr; 24(4):700-7. PubMed ID: 16514635
[TBL] [Abstract][Full Text] [Related]
14. Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
Park WD; O'Brien JF; Lundquist PA; Kraft DL; Vockley CW; Karnes PS; Patterson MC; Snow K
Hum Mutat; 2003 Oct; 22(4):313-25. PubMed ID: 12955717
[TBL] [Abstract][Full Text] [Related]
15. Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate.
Hecht JT; Makitie O; Hayes E; Haynes R; Susic M; Montufar-Solis D; Duke PJ; Cole WG
J Orthop Res; 2004 Jul; 22(4):759-67. PubMed ID: 15183431
[TBL] [Abstract][Full Text] [Related]
16. COMP mutations, chondrocyte function and cartilage matrix.
Hecht JT; Hayes E; Haynes R; Cole WG
Matrix Biol; 2005 Jan; 23(8):525-33. PubMed ID: 15694129
[TBL] [Abstract][Full Text] [Related]
17. GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein.
Rozsa FW; Shimizu S; Lichter PR; Johnson AT; Othman MI; Scott K; Downs CA; Nguyen TD; Polansky J; Richards JE
Mol Vis; 1998 Oct; 4():20. PubMed ID: 9772276
[TBL] [Abstract][Full Text] [Related]
18. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
Briggs MD; Chapman KL
Hum Mutat; 2002 May; 19(5):465-78. PubMed ID: 11968079
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Bone dysplasias: an introduction.
Azouz EM; Teebi AS; Eydoux P; Chen MF; Fassier F
Can Assoc Radiol J; 1998 Apr; 49(2):105-9. PubMed ID: 9561013
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
