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Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Jedraszak G, Jobic F, Receveur A, Bilan F, Gilbert-Dussardier B, Tiffany B, Missirian C, Willems M, Odent S, Lucas J, Dubourg C, Schaefer E, Scheidecker S, Lespinasse J, Goldenberg A, Guerrot AM, Joly-Helas G, Chambon P, Le Caignec C, David A, Coutton C, Satre V, Vieville G, Amblard F, Harbuz R, Sanlaville D, Till M, Vincent-Delorme C, Colson C, Andrieux J, Naudion S, Toutain J, Rooryck C, de Fréminville B, Prieur F, Daire VC, Amram D, Kleinfinger P, Schulze MB, Raabe-Meyer G, Courage C, Lemke J, Stefanou EG, Loretta T, Emmanouil M, Tzeli SK, Sodowska H, Anderson J, Nandini A, Copin H, Garçon L, Liehr T, Morin G. Jedraszak G, et al. Among authors: stefanou eg. Am J Med Genet A. 2024 Apr;194(4):e63476. doi: 10.1002/ajmg.a.63476. Epub 2023 Nov 16. Am J Med Genet A. 2024. PMID: 37974505
The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2.
Nazaryan L, Stefanou EG, Hansen C, Kosyakova N, Bak M, Sharkey FH, Mantziou T, Papanastasiou AD, Velissariou V, Liehr T, Syrrou M, Tommerup N. Nazaryan L, et al. Among authors: stefanou eg. Eur J Hum Genet. 2014 Mar;22(3):338-43. doi: 10.1038/ejhg.2013.147. Epub 2013 Jul 17. Eur J Hum Genet. 2014. PMID: 23860044 Free PMC article.
Complex small supernumerary marker chromosomes - an update.
Liehr T, Cirkovic S, Lalic T, Guc-Scekic M, de Almeida C, Weimer J, Iourov I, Melaragno MI, Guilherme RS, Stefanou EG, Aktas D, Kreskowski K, Klein E, Ziegler M, Kosyakova N, Volleth M, Hamid AB. Liehr T, et al. Among authors: stefanou eg. Mol Cytogenet. 2013 Oct 31;6:46. doi: 10.1186/1755-8166-6-46. eCollection 2013. Mol Cytogenet. 2013. PMID: 24171835 Free PMC article.
45,X/46,XY mosaicism: a cause of short stature in males.
Efthymiadou A, Stefanou EG, Chrysis D. Efthymiadou A, et al. Among authors: stefanou eg. Hormones (Athens). 2012 Oct-Dec;11(4):501-4. doi: 10.14310/horm.2002.1384. Hormones (Athens). 2012. PMID: 23422775 Free article.
12 results