The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay.
Autorzy:
Wayhelova M; Institute of Experimental Biology, Faculty of Science, Masaryk University, Kotlarska 267/2, Brno, Czech Republic. .; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic. . Smetana J; Institute of Experimental Biology, Faculty of Science, Masaryk University, Kotlarska 267/2, Brno, Czech Republic.; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic. Vallova V; Institute of Experimental Biology, Faculty of Science, Masaryk University, Kotlarska 267/2, Brno, Czech Republic.; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic. HladilkovaE; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic. Filkova H; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic. Hanakova M; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic. Vilemova M; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic. Nikolova P; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic. Gromesova B; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic. Gaillyova R; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic. Kuglik P; Institute of Experimental Biology, Faculty of Science, Masaryk University, Kotlarska 267/2, Brno, Czech Republic.; Department of Medical Genetics, University Hospital Brno, Cernopolni 212/9, Brno, Czech Republic.
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Źródło:
BMC medical genomics [BMC Med Genomics] 2019 Jul 23; Vol. 12 (1), pp. 111. Date of Electronic Publication: 2019 Jul 23.
Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay.
Autorzy:
Wayhelova M; Institute of Experimental Biology, Faculty of Science, Masaryk University, 611 37 Brno, Czech Republic. Oppelt J; CEITEC‑Central European Institute of Technology, Masaryk University, 625 00 Brno, Czech Republic. Smetana J; Institute of Experimental Biology, Faculty of Science, Masaryk University, 611 37 Brno, Czech Republic. HladilkovaE; Department of Medical Genetics, University Hospital Brno, 625 00 Brno, Czech Republic. Filkova H; Department of Medical Genetics, University Hospital Brno, 625 00 Brno, Czech Republic. Makaturova E; Department of Medical Genetics, University Hospital Brno, 625 00 Brno, Czech Republic. Nikolova P; Department of Medical Genetics, University Hospital Brno, 625 00 Brno, Czech Republic. Beharka R; Department of Medical Genetics, University Hospital Brno, 625 00 Brno, Czech Republic. Gaillyova R; Department of Medical Genetics, University Hospital Brno, 625 00 Brno, Czech Republic. Kuglik P; Institute of Experimental Biology, Faculty of Science, Masaryk University, 611 37 Brno, Czech Republic.
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Źródło:
Molecular medicine reports [Mol Med Rep] 2019 Jul; Vol. 20 (1), pp. 505-512. Date of Electronic Publication: 2019 May 27.
A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.
Autorzy:
HladilkovaE; Department of Medical Genetics, University of Oslo and Oslo University Hospital, P.O.Box 1036, Blindern, N-0315 Oslo, Norway.; Department of Medical Genetics, University Hospital, Children Medical Hospital, Brno, Czech Republic. Barøy T; Department of Medical Genetics, University of Oslo and Oslo University Hospital, P.O.Box 1036, Blindern, N-0315 Oslo, Norway. Fannemel M; Department of Medical Genetics, University of Oslo and Oslo University Hospital, P.O.Box 1036, Blindern, N-0315 Oslo, Norway. Vallova V; Department of Medical Genetics, University Hospital, Children Medical Hospital, Brno, Czech Republic.; Department of Genetics and Molecular Biology, Institute of Experimental Biology, Faculty of Science, Masaryk University, Kamenice 5, 625 00 Brno - Bohunice, Czech Republic. Misceo D; Department of Medical Genetics, University of Oslo and Oslo University Hospital, P.O.Box 1036, Blindern, N-0315 Oslo, Norway. Bryn V; Department of Habilitation, Sykehuset Innlandet HF, Lillehammer, Norway. Slamova I; Department of Genetics and Molecular Biology, Institute of Experimental Biology, Faculty of Science, Masaryk University, Kamenice 5, 625 00 Brno - Bohunice, Czech Republic.; Sanatorium Helios ltd., Laboratory of Medical Genetics, Brno, Czech Republic. Prasilova S; Department of Medical Genetics, University Hospital, Children Medical Hospital, Brno, Czech Republic. Kuglik P; Department of Medical Genetics, University Hospital, Children Medical Hospital, Brno, Czech Republic.; Department of Genetics and Molecular Biology, Institute of Experimental Biology, Faculty of Science, Masaryk University, Kamenice 5, 625 00 Brno - Bohunice, Czech Republic. Frengen E; Department of Medical Genetics, University of Oslo and Oslo University Hospital, P.O.Box 1036, Blindern, N-0315 Oslo, Norway.
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Źródło:
Molecular cytogenetics [Mol Cytogenet] 2015 Jul 31; Vol. 8, pp. 57. Date of Electronic Publication: 2015 Jul 31 (Print Publication: 2015).
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