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Page 1
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.
Zollino M, Lecce R, Murdolo M, Orteschi D, Marangi G, Selicorni A, Midro A, Sorge G, Zampino G, Memo L, Battaglia D, Petersen M, Pandelia E, Gyftodimou Y, Faravelli F, Tenconi R, Garavelli L, Mazzanti L, Fischetto R, Cavalli P, Savasta S, Rodriguez L, Neri G. Zollino M, et al. Among authors: gyftodimou y. Hum Genet. 2007 Dec;122(5):423-30. doi: 10.1007/s00439-007-0412-5. Epub 2007 Aug 4. Hum Genet. 2007. PMID: 17676343
Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes.
Sarri C, Douzgou S, Gyftodimou Y, Tümer Z, Ravn K, Pasparaki A, Sarafidou T, Kontos H, Kokotas H, Karadima G, Grigoriadou M, Pandelia E, Theodorou V, Moschonas NK, Petersen MB. Sarri C, et al. Among authors: gyftodimou y. Am J Med Genet A. 2011 Nov;155A(11):2841-54. doi: 10.1002/ajmg.a.34259. Epub 2011 Sep 30. Am J Med Genet A. 2011. PMID: 21964744 Review.
35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome.
Sarri C, Douzgou S, Kontos H, Anagnostopoulou K, Tümer Z, Grigoriadou M, Petersen MB, Kokotas H, Merou K, Pandelia E, Giouroukou E, Papanikolaou K, Côté GB, Gyftodimou Y. Sarri C, et al. Among authors: gyftodimou y. Cytogenet Genome Res. 2015;145(1):6-13. doi: 10.1159/000382046. Epub 2015 May 14. Cytogenet Genome Res. 2015. PMID: 25997743 Review.
Pure de novo partial trisomy 6p in a girl with craniosynostosis.
Varvagiannis K, Stefanidou A, Gyftodimou Y, Lord H, Williams L, Sarri C, Pandelia E, Bazopoulou-Kyrkanidou E, Noakes C, Lester T, Wilkie AO, Petersen MB. Varvagiannis K, et al. Among authors: gyftodimou y. Am J Med Genet A. 2013 Feb;161A(2):343-51. doi: 10.1002/ajmg.a.35727. Epub 2013 Jan 10. Am J Med Genet A. 2013. PMID: 23307468
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.
Bugiani M, Gyftodimou Y, Tsimpouka P, Lamantea E, Katzaki E, d'Adamo P, Nakou S, Georgoudi N, Grigoriadou M, Tsina E, Kabolis N, Milani D, Pandelia E, Kokotas H, Gasparini P, Giannoulia-Karantana A, Renieri A, Zeviani M, Petersen MB. Bugiani M, et al. Among authors: gyftodimou y. Am J Med Genet A. 2008 Sep 1;146A(17):2221-6. doi: 10.1002/ajmg.a.32239. Am J Med Genet A. 2008. PMID: 18655112
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium; Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics; Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA. Kaiser FJ, et al. Among authors: gyftodimou y. Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8. Hum Mol Genet. 2014. PMID: 24403048 Free PMC article.
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.
Malfait F, Symoens S, Goemans N, Gyftodimou Y, Holmberg E, López-González V, Mortier G, Nampoothiri S, Petersen MB, De Paepe A. Malfait F, et al. Among authors: gyftodimou y. Orphanet J Rare Dis. 2013 May 21;8:78. doi: 10.1186/1750-1172-8-78. Orphanet J Rare Dis. 2013. PMID: 23692737 Free PMC article.
18 results