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3. The Stickler syndrome is closely linked to COL2A1, the structural gene for type II collagen. Francomano CA; Liberfarb RM; Hirose T; Maumenee IH; Streeten EA; Meyers DA; Pyeritz RE Pathol Immunopathol Res; 1988; 7(1-2):104-6. PubMed ID: 3222200 [No Abstract] [Full Text] [Related]
4. [Molecular studies of collagen genes]. Prosniak MI Genetika; 1983; 19(1):5-16. PubMed ID: 6339319 [TBL] [Abstract][Full Text] [Related]
5. Connective tissue diseases: mutations of collagen genes. Vuorio E Ann Clin Res; 1986; 18(5-6):234-41. PubMed ID: 3551771 [No Abstract] [Full Text] [Related]
6. Learning how mutations in type I collagen genes cause connective tissue disease. Kadler KE Int J Exp Pathol; 1993 Aug; 74(4):319-23. PubMed ID: 8398803 [No Abstract] [Full Text] [Related]
7. Seminars in medicine of the Beth Israel Hospital, Boston. Mutations in collagen genes as a cause of connective-tissue diseases. Prockop DJ N Engl J Med; 1992 Feb; 326(8):540-6. PubMed ID: 1732793 [No Abstract] [Full Text] [Related]
8. Medical genetics. Collagen and inherited connective tissue diseases. Sykes B Nature; 1983 Oct 27-Nov 2; 305(5937):764. PubMed ID: 6633648 [No Abstract] [Full Text] [Related]
9. Molecular nosology of heritable disorders of connective tissue. Beighton P; De Paepe A; Hall JG; Hollister DW; Pope FM; Pyeritz RE; Steinmann B; Tsipouras P Am J Med Genet; 1992 Feb; 42(4):431-48. PubMed ID: 1609825 [No Abstract] [Full Text] [Related]
10. Correlation of linkage data with phenotype in eight families with Stickler syndrome. Wilkin DJ; Mortier GR; Johnson CL; Jones MC; de Paepe A; Shohat M; Wildin RS; Falk RE; Cohn DH Am J Med Genet; 1998 Nov; 80(2):121-7. PubMed ID: 9805127 [TBL] [Abstract][Full Text] [Related]
11. Molecular mechanisms of disease in inherited disorders of collagen metabolism. Byers PH; Barsh GS; Holbrook KA Prog Clin Biol Res; 1982; 103 Pt B():211-22. PubMed ID: 7163220 [No Abstract] [Full Text] [Related]
12. [Gene errors as a cause of rare and common connective tissue diseases]. Ala-Kokko L; Kuivaniemi H Duodecim; 1994; 110(7):731-9. PubMed ID: 8542828 [No Abstract] [Full Text] [Related]
13. [Biochemical defects in hereditary diseases of the connective tissue (review)]. Del'vig AA Vopr Med Khim; 1986; 32(2):2-14. PubMed ID: 3518233 [No Abstract] [Full Text] [Related]
14. Key role for a minor collagen. Francomano CA Nat Genet; 1995 Jan; 9(1):6-8. PubMed ID: 7704026 [No Abstract] [Full Text] [Related]
16. [Congenital connective tissue dysplasias]. Martynov AI; Stepura OB; Ostroumova OD; Panagrieva OV; Pak LS Vestn Ross Akad Med Nauk; 1998; (2):47-54. PubMed ID: 9567719 [No Abstract] [Full Text] [Related]
17. Molecular heterogeneity: a clinical dilemma. Clinical heterogeneity: a molecular dilemma. Godfrey M Am J Hum Genet; 1993 Jul; 53(1):22-5. PubMed ID: 8317487 [No Abstract] [Full Text] [Related]
18. Role of cartilage collagens in formation of the skeleton. Olsen BR Ann N Y Acad Sci; 1996 Jun; 785():124-30. PubMed ID: 8702118 [No Abstract] [Full Text] [Related]
19. [Cerebral vascular pathology in hereditary dysplasia of the cennective tissue]. Sidorova OP; Kotov SV; Poplavskaia NM Zh Nevrol Psikhiatr Im S S Korsakova; 2012; 112(5):94-7. PubMed ID: 22970442 [No Abstract] [Full Text] [Related]
20. Nuclear magnetic resonance characterization of peptide models of collagen-folding diseases. Buevich A; Baum J Philos Trans R Soc Lond B Biol Sci; 2001 Feb; 356(1406):159-68. PubMed ID: 11260796 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]