Stickler syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Stickler syndrome" in English language version.

refsWebsite

Global rank English rank

11nih.gov

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7doi.org

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doi.org

Richards AJ, Baguley DM, Yates JR, Lane C, Nicol M, Harper PS, Scott JD, Snead MP (2000). "Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix". Am J Hum Genet. 67 (5): 1083–94. doi:10.1016/S0002-9297(07)62938-3. PMC 1288550. PMID 11007540.
Annunen S, Korkko J, Czarny M, Warman ML, Brunner HG, Kaariainen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L (1999). "Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes". Am J Hum Genet. 65 (4): 974–83. doi:10.1086/302585. PMC 1288268. PMID 10486316.
Admiraal RJ, Szymko YM, Griffith AJ, Brunner HG, Huygen PL (2002). "Hearing impairment in Stickler syndrome". Adv Otorhinolaryngol. Advances in Oto-Rhino-Laryngology. 61: 216–23. doi:10.1159/000066812. ISBN 3-8055-7449-5. PMID 12408087.
Nowak CB (1998). "Genetics and hearing loss: a review of Stickler syndrome". J Commun Disord. 31 (5): 437–53, 453–4. doi:10.1016/S0021-9924(98)00015-X. PMID 9777489.
Liberfarb RM, Levy HP, Rose PS, Wilkin DJ, Davis J, Balog JZ, Griffith AJ, Szymko-Bennett YM, Johnston JJ, Francomano CA, Tsilou E, Rubin BI (2003). "The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1". Genet Med. 5 (1): 21–7. doi:10.1097/00125817-200301000-00004. PMID 12544472.
Snead MP, Yates JR (1999). "Clinical and Molecular genetics of Stickler syndrome". J Med Genet. 36 (5): 353–9. doi:10.1136/jmg.36.5.353. PMC 1734362. PMID 10353778.
Parke DW (2002). "Stickler syndrome: clinical care and molecular genetics". Am J Ophthalmol. 134 (5): 746–8. doi:10.1016/S0002-9394(02)01822-6. PMID 12429253.

nih.gov

pubmed.ncbi.nlm.nih.gov

Stickler G. B.; Belau P. G.; Farrell F. J.; Jones J. F.; Pugh D. G.; Steinberg A. G.; Ward L. E. (1965). "Hereditary Progressive Arthro-Ophthalmopathy". Mayo Clin Proc. 40: 433–55. PMID 14299791.
Richards AJ, Baguley DM, Yates JR, Lane C, Nicol M, Harper PS, Scott JD, Snead MP (2000). "Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix". Am J Hum Genet. 67 (5): 1083–94. doi:10.1016/S0002-9297(07)62938-3. PMC 1288550. PMID 11007540.
Annunen S, Korkko J, Czarny M, Warman ML, Brunner HG, Kaariainen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L (1999). "Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes". Am J Hum Genet. 65 (4): 974–83. doi:10.1086/302585. PMC 1288268. PMID 10486316.
Admiraal RJ, Szymko YM, Griffith AJ, Brunner HG, Huygen PL (2002). "Hearing impairment in Stickler syndrome". Adv Otorhinolaryngol. Advances in Oto-Rhino-Laryngology. 61: 216–23. doi:10.1159/000066812. ISBN 3-8055-7449-5. PMID 12408087.
Nowak CB (1998). "Genetics and hearing loss: a review of Stickler syndrome". J Commun Disord. 31 (5): 437–53, 453–4. doi:10.1016/S0021-9924(98)00015-X. PMID 9777489.
Liberfarb RM, Levy HP, Rose PS, Wilkin DJ, Davis J, Balog JZ, Griffith AJ, Szymko-Bennett YM, Johnston JJ, Francomano CA, Tsilou E, Rubin BI (2003). "The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1". Genet Med. 5 (1): 21–7. doi:10.1097/00125817-200301000-00004. PMID 12544472.
Snead MP, Yates JR (1999). "Clinical and Molecular genetics of Stickler syndrome". J Med Genet. 36 (5): 353–9. doi:10.1136/jmg.36.5.353. PMC 1734362. PMID 10353778.
Parke DW (2002). "Stickler syndrome: clinical care and molecular genetics". Am J Ophthalmol. 134 (5): 746–8. doi:10.1016/S0002-9394(02)01822-6. PMID 12429253.

ncbi.nlm.nih.gov

Richards AJ, Baguley DM, Yates JR, Lane C, Nicol M, Harper PS, Scott JD, Snead MP (2000). "Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix". Am J Hum Genet. 67 (5): 1083–94. doi:10.1016/S0002-9297(07)62938-3. PMC 1288550. PMID 11007540.
Annunen S, Korkko J, Czarny M, Warman ML, Brunner HG, Kaariainen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L (1999). "Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes". Am J Hum Genet. 65 (4): 974–83. doi:10.1086/302585. PMC 1288268. PMID 10486316.
Snead MP, Yates JR (1999). "Clinical and Molecular genetics of Stickler syndrome". J Med Genet. 36 (5): 353–9. doi:10.1136/jmg.36.5.353. PMC 1734362. PMID 10353778.