Search Results - "Kocarek, Eduard"

A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature by Tesner, Pavel, Drabova, Jana, Stolfa, Miroslav, Kudr, Martin, Kyncl, Martin, Moslerova, Veronika, Novotna, Drahuse, Kremlikova Pourova, Radka, Kocarek, Eduard, Rasplickova, Tereza, Sedlacek, Zdenek, Vlckova, Marketa

“…With only 11 patients reported, 5p tetrasomy belongs to rare postnatal findings. Most cases are due to small supernumerary marker chromosomes (sSMCs) or…”
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DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion by Bartsch, Oliver, Nemecková, Michaela, Kocárek, Eduard, Wagner, Annett, Puchmajerová, Alena, Poppe, Maja, Ounap, Katrin, Goetz, Petr

“…DiGeorge anomaly/velocardiofacial syndrome (DG/VCFS) occurs with different deletion intervals on chromosomes 22q11, while the DiGeorge anomaly (with other…”
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Early development of immunity in diGeorge syndrome by Sedivá, Anna, Bartůnková, Jiøina, Zachová, Radana, Poloucková, Andrea, Hrusák, Ondrej, Janda, Ales, Kocárek, Eduard, Novotná, Drahuse, Novotná, Kamila, Klein, Tibor

“…diGeorge syndrome is a relatively common congenital disorder with developmental defects, including hypoplasia or pathologic migration of the thymus, associated…”
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A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17 by Havlovicova, Marketa, Novotna, Drahuse, Kocarek, Eduard, Novotna, Kamila, Bendova, Sarka, Petrak, Borivoj, Hrdlicka, Michal, Sedlacek, Zdenek

“…We describe a girl with neurofibromatosis type 1 (NF1), mild dysmorphic features, growth and mental retardation, autism, and mosaicism of ring chromosome 17…”
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Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation by Calounova, Gabriela, Novotna, Drahuse, Simandlova, Martina, Havlovicova, Markéta, Zumrová, Alena, Kocarek, Eduard, Sedlacek, Zdenek

“…In contrast to most human autosomal genes which are expressed biallelically, the expression of imprinted genes depends on the parental origin of the allele…”
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A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature by Tesner, Pavel, Drabova, Jana, Stolfa, Miroslav, Kudr, Martin, Kyncl, Martin, Moslerova, Veronika, Novotna, Drahuse, Kremlikova Pourova, Radka, Kocarek, Eduard, Rasplickova, Tereza, Sedlacek, Zdenek, Vlckova, Marketa

“…BACKGROUNDWith only 11 patients reported, 5p tetrasomy belongs to rare postnatal findings. Most cases are due to small supernumerary marker chromosomes (sSMCs)…”
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A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17 by Havlovicova, Marketa, Novotna, Drahuse, Kocarek, Eduard, Novotna, Kamila, Bendova, Sarka, Petrak, Borivoj, Hrdlicka, Michal, Sedlacek, Zdenek

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