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Title: The Stickler syndrome: Evidence for close linkage to the structural gene for type II collagen
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Genomics [0888-7543] Francomano, C A yr:1987


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1. Temple, I K K. "Stickler's syndrome." Journal of medical genetics 26.2 (1989): 119-26. Link to Full Text for this item Link to SFX for this item
2. Sirko-Osadsa, D A A. "Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen." The Journal of pediatrics 132.2 (1998): 368-71. Link to Full Text for this item Link to SFX for this item
3. Stickler, P. "Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): A survey." Genetics in medicine 3.3 (2001): 192-196. Link to Full Text for this item Link to SFX for this item
4. Mariman, E C C. "A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene." Human Molecular Genetics 3.9 (1994): 1561-4. Link to Full Text for this item Link to SFX for this item
5. Phillips, David J. "Stickler syndrome." Clinical & experimental optometry 83.6 (2000): 330-332. Link to Full Text for this item Link to SFX for this item
6. Snead, J R P. "Clinical and Molecular genetics of Stickler syndrome." Journal of medical genetics 36.5 (1999): 353-9. Link to Full Text for this item Link to SFX for this item
7. Nilofer Nina Ahmad, Nilofer N. "Stop Codon in the Procollagen II Gene (COL2A1) in a Family with the Stickler Syndrome (Arthro-Ophthalmopathy)." Proceedings of the National Academy of Sciences of the United States of America 88.15 (1991): 6624-6627. Link to Full Text for this item Link to SFX for this item
8. MacDonald, M. "Stickler syndrome." Ear, nose & throat journal 76.10 (1997): 706-706. Link to SFX for this item
9. Polomeno, R C C. "Stickler's syndrome (hereditary progressive arthro-ophthalmopathy)." CMAJ 111.10 (1974): 1071-6. Link to Full Text for this item Link to SFX for this item
10. Herrmann, J. "THE STICKLER SYNDROME." Pediatric research 8.4 (1974): 440-440. Link to Full Text for this item Link to SFX for this item
11. Knowlton, R G. "Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene." American journal of human genetics 45.5 (1989): 681-688. Link to Full Text for this item Link to SFX for this item
12. Colaco, Henrique G. "Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients." Journal of Inherited Metabolic Disease 37.2 (2014): 245-254. Link to Full Text for this item Link to SFX for this item
13. Pihlajamaa, T. "Heterozygous Glycine Substitution in the COL11A2 Gene in the Original Patient With the Weissenbacher-Zweymueller Syndrome Demonstrates Its Identity With Heterozygous OSMED (Nonocular Stickler Syndrome)." American journal of medical genetics 80.2 (1998): 115-120. Link to Full Text for this item Link to SFX for this item
14. Snead, JRW P. "Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity." European journal of human genetics 7.7 (1999): 807-814. Link to Full Text for this item Link to SFX for this item
15. Merin, S. "Variability of Stickler syndrome." American journal of medical genetics 42.3 (1992): 337-9. Link to Full Text for this item Link to SFX for this item
16. Richards, AJ J. "A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen." Human Molecular Genetics 5.9 (1996): 1339-1343. Link to SFX for this item
17. Szymko-Bennett, A J J. "Auditory dysfunction in Stickler syndrome." Archives of otolaryngology--head & neck surgery 127.9 (2001): 1061-8. Link to SFX for this item
18. Ala Kokko, Pertti I. "A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis." Genomics 17.1 (1993): 218-221. Link to Full Text for this item Link to SFX for this item
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