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Journal of Medical Genetics|February 9, 2000
Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISHP Stankiewicz, E Bocian, K Jakubów-Durska, et al.
International Journal of Molecular Medicine|December 16, 1998
Mosaicism for Charcot-Marie-Tooth disease type 1A: onset in childhood suggests somatic reversion in early developmental stagesB Rautenstrauss, T Liehr, C Fuchs, et al.
Gene|December 17, 2013
A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotypeI Papoulidis, E Papageorgiou, E Siomou, et al.
Hamostaseologie|November 6, 2015
Large deletions play a minor but essential role in congenital coagulation factor VII and X deficienciesM Rath, J Najm, H Sirb, et al.
American Journal of Medical Genetics|August 3, 2001
Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expressionP Stankiewicz, H Thiele, I Giannakudis, et al.
Molecular Cytogenetics|August 4, 2016
Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delayH Fryssira, E Tsoutsou, S Psoni, et al.
Cytogenetics and Cell Genetics|February 15, 2001
Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndromeA Dufke, J Seidel, M Schöning, et al.
Balkan Journal of Medical Genetics : BJMG|September 21, 2013
Evidence for correlation of fragile sites and chromosomal breakpoints in carriers of constitutional balanced chromosomal rearrangementsT Liehr, N Kosayakova, J Schröder, et al.
Bulletin of Experimental Biology and Medicine|November 21, 2007
Chromosome variability of human multipotent mesenchymal stromal cellsN P Bochkov, E S Voronina, N V Kosyakova, et al.
Cytogenetic and Genome Research|September 5, 2009
Molecular cytogenetic characterization of two cases with de novo small mosaic supernumerary marker chromosomes derived from chromosome 16: towards a genotype/phenotype correlationJ B Melo, E Matoso, A Polityko, et al.
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