Coffin–Siris syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Coffin–Siris syndrome" in English language version.

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doi.org

  • Coffin, G. S.; Siris, E. (May 1970). "Mental retardation with absent fifth fingernail and terminal phalanx". American Journal of Diseases of Children. 119 (5): 433–439. doi:10.1001/archpedi.1970.02100050435009. ISSN 0002-922X. PMID 5442442.
  • Levy P, Baraitser M (May 1991). "Coffin-Siris syndrome". Journal of Medical Genetics. 28 (5): 338–41. doi:10.1136/jmg.28.5.338. PMC 1016855. PMID 1865473.
  • Sousa SB, Abdul-Rahman OA, Bottani A, Cormier-Daire V, Fryer A, Gillessen-Kaesbach G, Horn D, Josifova D, Kuechler A, Lees M, MacDermot K, Magee A, Morice-Picard F, Rosser E, Sarkar A, Shannon N, Stolte-Dijkstra I, Verloes A, Wakeling E, Wilson L, Hennekam RC (August 2009). "Nicolaides-Baraitser syndrome: Delineation of the phenotype". American Journal of Medical Genetics. Part A. 149A (8): 1628–40. doi:10.1002/ajmg.a.32956. PMID 19606471.
  • Vals MA, Õiglane-Shlik E, Nõukas M, Shor R, Peet A, Kals M, Kivistik PA, Metspalu A, Õunap K (November 2014). "Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene". European Journal of Human Genetics. 22 (11): 1327–9. doi:10.1038/ejhg.2014.25. PMC 4200437. PMID 24569609.
  • Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N (June 2014). "De novo SOX11 mutations cause Coffin-Siris syndrome". Nature Communications. 5: 4011. Bibcode:2014NatCo...5.4011T. doi:10.1038/ncomms5011. PMID 24886874.
  • Gazdagh G, Blyth M, Scurr I, Turnpenny PD, Mehta SG, Armstrong R, McEntagart M, Newbury-Ecob R, Tobias ES, Joss S (April 2018). "Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients" (PDF). European Journal of Medical Genetics. 62 (1): 27–34. doi:10.1016/j.ejmg.2018.04.014. PMID 29698805. S2CID 23207774.

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  • Coffin, G. S.; Siris, E. (May 1970). "Mental retardation with absent fifth fingernail and terminal phalanx". American Journal of Diseases of Children. 119 (5): 433–439. doi:10.1001/archpedi.1970.02100050435009. ISSN 0002-922X. PMID 5442442.
  • Levy P, Baraitser M (May 1991). "Coffin-Siris syndrome". Journal of Medical Genetics. 28 (5): 338–41. doi:10.1136/jmg.28.5.338. PMC 1016855. PMID 1865473.
  • Sousa SB, Abdul-Rahman OA, Bottani A, Cormier-Daire V, Fryer A, Gillessen-Kaesbach G, Horn D, Josifova D, Kuechler A, Lees M, MacDermot K, Magee A, Morice-Picard F, Rosser E, Sarkar A, Shannon N, Stolte-Dijkstra I, Verloes A, Wakeling E, Wilson L, Hennekam RC (August 2009). "Nicolaides-Baraitser syndrome: Delineation of the phenotype". American Journal of Medical Genetics. Part A. 149A (8): 1628–40. doi:10.1002/ajmg.a.32956. PMID 19606471.
  • Vergano, Samantha Schrier; Santen, Gijs; Wieczorek, Dagmar; Wollnik, Bernd; Matsumoto, Naomichi; Deardorff, Matthew A. (12 August 2021). "Coffin-Siris Syndrome". University of Washington, Seattle. PMID 23556151.
  • Vals MA, Õiglane-Shlik E, Nõukas M, Shor R, Peet A, Kals M, Kivistik PA, Metspalu A, Õunap K (November 2014). "Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene". European Journal of Human Genetics. 22 (11): 1327–9. doi:10.1038/ejhg.2014.25. PMC 4200437. PMID 24569609.
  • Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N (June 2014). "De novo SOX11 mutations cause Coffin-Siris syndrome". Nature Communications. 5: 4011. Bibcode:2014NatCo...5.4011T. doi:10.1038/ncomms5011. PMID 24886874.
  • Gazdagh G, Blyth M, Scurr I, Turnpenny PD, Mehta SG, Armstrong R, McEntagart M, Newbury-Ecob R, Tobias ES, Joss S (April 2018). "Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients" (PDF). European Journal of Medical Genetics. 62 (1): 27–34. doi:10.1016/j.ejmg.2018.04.014. PMID 29698805. S2CID 23207774.

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  • Coffin, G. S.; Siris, E. (May 1970). "Mental retardation with absent fifth fingernail and terminal phalanx". American Journal of Diseases of Children. 119 (5): 433–439. doi:10.1001/archpedi.1970.02100050435009. ISSN 0002-922X. PMID 5442442.