Search Results - "Malikova, Marcela"

Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy by Borgulová, Irena, Soldatova, Inna, Putzová, Martina, Malíková, Marcela, Neupauerová, Jana, Marková, Simona Poisson, Trková, Marie, Seeman, Pavel

“…Approximately 20 cases of genome-wide uniparental disomy or diploidy (GWUPD) as mosaicism have previously been reported. We present the case of an 11-year-old…”
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Some ADHD polymorphisms (in genes DAT1, DRD2, DRD3, DBH, 5-HTT) in case-control study of 100 subjects 6-10 age by Kopecková, Marta, Paclt, Ivo, Petrásek, Jan, Pacltová, Dagmar, Malíková, Marcela, Zagatová, Veronika

“…Pharmacological approach is the most effective way of treatment of ADHD and its early application prevents from the progress of secondary disorders. The study…”
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Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA) by Pourová, Radka, Janoušek, Petr, Jurovčík, Michal, Dvořáková, Marcela, Malíková, Marcela, Rašková, Dagmar, Bendová, Olga, Leonardi, Emanuela, Murgia, Alessandra, Kabelka, Zdenek, Astl, Jaromír, Seeman, Pavel

“…Summary Mutations in SLC26A4 cause Pendred syndrome (PS) – hearing loss with goitre – or DFNB4 – non‐syndromic hearing loss (NSHL) with inner ear abnormalities…”
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Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings by Seeman, Tomáš, Malíková, Marcela, Bláhová, Květa, Seemanová, Eva

“…A family with three children affected with congenital polycystic kidneys, hepatic fibrosis, mental retardation, minor anomalies of the hands, and dysmorphic…”
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Inherited ichthyoses: molecular causes of the disease in Czech patients by Borská, Romana, Pinková, Blanka, Réblová, Kamila, Bučková, Hana, Kopečková, Lenka, Němečková, Jitka, Puchmajerová, Alena, Malíková, Marcela, Hermanová, Markéta, Fajkusová, Lenka

“…Inherited ichthyoses belong to a large and heterogeneous group of mendelian disorders of cornification, and can be distinguished by the quality and…”
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Association of 17q24.2‐q24.3 deletions with recognizable phenotype and short telomeres by Hancarova, Miroslava, Malikova, Marcela, Kotrova, Michaela, Drabova, Jana, Trkova, Marie, Sedlacek, Zdenek

“…Microdeletions of 17q24.2‐q24.3 have been described in several patients with developmental and speech delay, growth retardation, and other features. The…”
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Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1 by Piard, Juliette, Lespinasse, James, Vlckova, Marketa, Mensah, Martin A., Iurian, Sorin, Simandlova, Martina, Malikova, Marcela, Bartsch, Oliver, Rossi, Massimiliano, Lenoir, Marion, Nugues, Frédérique, Mundlos, Stefan, Kornak, Uwe, Stanier, Philip, Sousa, Sérgio B., Van Maldergem, Lionel

“…The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying…”
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Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: Case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis by Hubacek, Milan, Kripnerova, Tereza, Nemcikova, Michaela, Krepelová, Anna, Puchmajerova, Alena, Malikova, Marcela, Havlovicová, Markéta, Cadova, Jana, Kodet, Roman, Macek, Jr, Milan, Dostalova, Tatjana

“…Identification of early presenting signs of the Basal Cell Nevus (BCNS; synonyme Gorlin-Goltz) syndrome, which is associated with a principal triad of multiple…”
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A novel Czech kindred with familial medullary thyroid carcinoma and Hirschsprung's disease by Dvořáková, Šárka, Dvořáková, Kateřina, Malíková, Marcela, Škába, Richard, Vlček, Petr, Bendlová, Běla

“…The RET proto-oncogene is involved in neural crest disorders. Activating germline mutations in the RET proto-oncogene cause the development of familial…”
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