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Coffin Siris/Intellectual Disability

MedGen UID:
776839
Concept ID:
CN185481
Disease or Syndrome
 

Recent clinical studies

Etiology

Gossai N, Biegel JA, Messiaen L, Berry SA, Moertel CL
Am J Med Genet A 2015 Dec;167A(12):3186-91. Epub 2015 Sep 14 doi: 10.1002/ajmg.a.37356. PMID: 26364901
Mari F, Marozza A, Mencarelli MA, Lo Rizzo C, Fallerini C, Dosa L, Di Marco C, Carignani G, Baldassarri M, Cianci P, Vivarelli R, Vascotto M, Grosso S, Rubegni P, Caffarelli C, Pretegiani E, Fimiani M, Garavelli L, Cristofoli F, Vermeesch JR, Nuti R, Dotti MT, Balestri P, Hayek J, Selicorni A, Renieri A
Brain Dev 2015 May;37(5):527-36. Epub 2014 Sep 22 doi: 10.1016/j.braindev.2014.08.009. PMID: 25249037
Campeau PM, Hennekam RC; DOORS syndrome collaborative group.
Am J Med Genet C Semin Med Genet 2014 Sep;166C(3):327-32. Epub 2014 Aug 28 doi: 10.1002/ajmg.c.31412. PMID: 25169651
Miyake N, Tsurusaki Y, Matsumoto N
Am J Med Genet C Semin Med Genet 2014 Sep;166C(3):257-61. Epub 2014 Jul 31 doi: 10.1002/ajmg.c.31406. PMID: 25081545
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
Nat Commun 2014 Jun 2;5:4011. doi: 10.1038/ncomms5011. PMID: 24886874

Diagnosis

Gossai N, Biegel JA, Messiaen L, Berry SA, Moertel CL
Am J Med Genet A 2015 Dec;167A(12):3186-91. Epub 2015 Sep 14 doi: 10.1002/ajmg.a.37356. PMID: 26364901
Mari F, Marozza A, Mencarelli MA, Lo Rizzo C, Fallerini C, Dosa L, Di Marco C, Carignani G, Baldassarri M, Cianci P, Vivarelli R, Vascotto M, Grosso S, Rubegni P, Caffarelli C, Pretegiani E, Fimiani M, Garavelli L, Cristofoli F, Vermeesch JR, Nuti R, Dotti MT, Balestri P, Hayek J, Selicorni A, Renieri A
Brain Dev 2015 May;37(5):527-36. Epub 2014 Sep 22 doi: 10.1016/j.braindev.2014.08.009. PMID: 25249037
Vergano SS, Deardorff MA
Am J Med Genet C Semin Med Genet 2014 Sep;166C(3):252-6. Epub 2014 Aug 28 doi: 10.1002/ajmg.c.31411. PMID: 25169447
Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Matsumoto N, Makita Y, Fukuda M, Isidor B, Perrier J, Aggarwal S, Dalal AB, Al-Kindy A, Liebelt J, Mowat D, Nakashima M, Saitsu H, Miyake N, Matsumoto N
Clin Genet 2014 Jun;85(6):548-54. Epub 2013 Jul 23 doi: 10.1111/cge.12225. PMID: 23815551
Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM, Vijfhuizen L, van der Wielen MJ, Vollebregt MJ; Coffin-Siris consortium., Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BB, Hennekam RC, van Belzen MJ
Hum Mutat 2013 Nov;34(11):1519-28. Epub 2013 Aug 30 doi: 10.1002/humu.22394. PMID: 23929686

Therapy

Bramswig NC, Lüdecke HJ, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, Braunholz D, Caliebe A, Chrzanowska KH, Czeschik JC, Endele S, Graf E, Guillén-Navarro E, Kiper PÖ, López-González V, Parenti I, Pozojevic J, Utine GE, Wieland T, Kaiser FJ, Wollnik B, Strom TM, Wieczorek D
Hum Genet 2015 Jun;134(6):553-68. Epub 2015 Feb 28 doi: 10.1007/s00439-015-1535-8. PMID: 25724810

Prognosis

Weiss K, Terhal PA, Cohen L, Bruccoleri M, Irving M, Martinez AF, Rosenfeld JA, Machol K, Yang Y, Liu P, Walkiewicz M, Beuten J, Gomez-Ospina N, Haude K, Fong CT, Enns GM, Bernstein JA, Fan J, Gotway G, Ghorbani M; DDD Study., van Gassen K, Monroe GR, van Haaften G, Basel-Vanagaite L, Yang XJ, Campeau PM, Muenke M
Am J Hum Genet 2016 Oct 6;99(4):934-941. Epub 2016 Sep 8 doi: 10.1016/j.ajhg.2016.08.001. PMID: 27616479Free PMC Article
Gossai N, Biegel JA, Messiaen L, Berry SA, Moertel CL
Am J Med Genet A 2015 Dec;167A(12):3186-91. Epub 2015 Sep 14 doi: 10.1002/ajmg.a.37356. PMID: 26364901
Vandeweyer G, Helsmoortel C, Van Dijck A, Vulto-van Silfhout AT, Coe BP, Bernier R, Gerdts J, Rooms L, van den Ende J, Bakshi M, Wilson M, Nordgren A, Hendon LG, Abdulrahman OA, Romano C, de Vries BB, Kleefstra T, Eichler EE, Van der Aa N, Kooy RF
Am J Med Genet C Semin Med Genet 2014 Sep;166C(3):315-26. Epub 2014 Aug 28 doi: 10.1002/ajmg.c.31413. PMID: 25169753Free PMC Article
Vals MA, Õiglane-Shlik E, Nõukas M, Shor R, Peet A, Kals M, Kivistik PA, Metspalu A, Õunap K
Eur J Hum Genet 2014 Nov;22(11):1327-9. Epub 2014 Feb 26 doi: 10.1038/ejhg.2014.25. PMID: 24569609Free PMC Article
Marcelis CL, Rieu P, Beemer F, Brunner HG
Clin Dysmorphol 2007 Apr;16(2):73-6. doi: 10.1097/MCD.0b013e3280147130. PMID: 17351347

Clinical prediction guides

Weiss K, Terhal PA, Cohen L, Bruccoleri M, Irving M, Martinez AF, Rosenfeld JA, Machol K, Yang Y, Liu P, Walkiewicz M, Beuten J, Gomez-Ospina N, Haude K, Fong CT, Enns GM, Bernstein JA, Fan J, Gotway G, Ghorbani M; DDD Study., van Gassen K, Monroe GR, van Haaften G, Basel-Vanagaite L, Yang XJ, Campeau PM, Muenke M
Am J Hum Genet 2016 Oct 6;99(4):934-941. Epub 2016 Sep 8 doi: 10.1016/j.ajhg.2016.08.001. PMID: 27616479Free PMC Article
Malli T, Duba HC, Erdel M, Marschon R, Kranewitter W, Deutschbauer S, Kralik J, Diel E, Güenther B, Mueller D, Webersinke G
Am J Med Genet A 2014 Dec;164A(12):3126-31. Epub 2014 Sep 22 doi: 10.1002/ajmg.a.36738. PMID: 25250687
Santen GW, Clayton-Smith J; ARID1B-CSS consortium.
Am J Med Genet C Semin Med Genet 2014 Sep;166C(3):276-89. Epub 2014 Aug 28 doi: 10.1002/ajmg.c.31414. PMID: 25169814
Vals MA, Õiglane-Shlik E, Nõukas M, Shor R, Peet A, Kals M, Kivistik PA, Metspalu A, Õunap K
Eur J Hum Genet 2014 Nov;22(11):1327-9. Epub 2014 Feb 26 doi: 10.1038/ejhg.2014.25. PMID: 24569609Free PMC Article
Au PY, Argiropoulos B, Parboosingh JS, Micheil Innes A
Am J Med Genet A 2014 Feb;164A(2):441-8. Epub 2013 Dec 19 doi: 10.1002/ajmg.a.36320. PMID: 24357076

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