Search Results - "Havlovicova, M"

Dental abnormalities observed in the oculo-facio-cardio-dental (OFCD) syndrome present in two Czech families bearing novel de novo BCOR pathogenic variants by Batkova, M, Havlovicova, M, Nocar, A, Dudakova, L, Macek, M, Liskova, Petra, Dostalova, Tatjana

“…The oculo-facio-cardio-dental syndrome (OFCD) is an ultra-rare multiple congenital anomaly. This report describes clinical findings emphasising dental…”
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HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain by Jolly, Lachlan A, Nguyen, Lam Son, Domingo, Deepti, Sun, Ying, Barry, Simon, Hancarova, Miroslava, Plevova, Pavlina, Vlckova, Marketa, Havlovicova, Marketa, Kalscheuer, Vera M, Graziano, Claudio, Pippucci, Tommaso, Bonora, Elena, Sedlacek, Zdenek, Gecz, Jozef

“…Both gain- and loss-of-function mutations have recently implicated HCFC1 in neurodevelopmental disorders. Here, we extend our previous HCFC1 over-expression…”
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Is there any relation between paternal age and sporadic cases of neurofibromatosis Von Recklinghausen type 1? by Snajderova, M, Petrak, B, Mardesic, T, Havlovicova, M, Zemkova, D

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Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring by Paděrová, J., Holubová, A., Simandlová, M., Puchmajerová, A., Vlčková, M., Malíková, M., Pourová, R., Vejvalková, S., Havlovicová, M., Šenkeříková, M., Ptáková, N., Drábová, J., Geryk, J., Maver, A., Křepelová, A., Macek Jr, M.

“…Kabuki syndrome (KS) is a dominantly inherited disorder mainly due to de novo pathogenic variation in KMT2D or KDM6A genes. Initially, a representative cohort…”
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Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders by Smith, Michael, Alexander, Elizabeth, Marcinkute, Ruta, Dan, Dorica, Rawson, Myfanwy, Banka, Siddharth, Gavin, Jason, Mina, Hany, Hennessy, Con, Riccardi, Florence, Radio, Francesca Clementina, Havlovicova, Marketa, Cassina, Matteo, Emandi, Adela Chirita, Fradin, Melanie, Gompertz, Lianne, Nordgren, Ann, Traberg, Rasa, Rossi, Massimiliano, Trimouille, Aurelién, Sowmyalakshmi, Rasika, Dallapiccola, Bruno, Renieri, Alessandra, Faivre, Laurence, Kerr, Bronwyn, Verloes, Alain, Clayton-Smith, Jill, Douzgou, Sofia

“…The European Reference Networks, ERNs, are virtual networks for healthcare providers across Europe to collaborate and share expertise on complex or rare…”
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Solve-RD: the ITHACA perspective by Denomme-Pichon, AS, de Boer, E, Jackson, A, Benetti, E, Banka, S, Casari, G, Ciolfi, A, Clayton-Smith, J, Dallapiccola, B, Ellwanger, K, Faivre, L, Gilissen, C, Graessner, H, Haack, TB, Hammarsjo, A, Havlovicova, M, Hoischen, A, Hugon, A, Kleefstra, T, Lindstrand, A, Lopez-Martin, E, Macek, M, Matalonga, L, Morleo, M, Nigro, V, Nordgren, A, Pettersson, M, Pinelli, M, Pizzi, S, Posada, M, Radio, FC, Renieri, A, Rooryck, C, Ryba, L, Schwarz, M, Tartaglia, M, Thauvin, C, Torella, A, Trimouille, A, Votypka, P, Vyshka, K, Zurek, B, Verloes, A, Vitobello, A, Vissers, L

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P14.15: Elevated fetal DNA levels in maternal blood in the 14 th week: a case report by Vlk, R., Hromadnikova, I., Simandlova, M., Hrehorcak, M., Havlovicova, M., Halaska, M.

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P14.15: Elevated fetal DNA levels in maternal blood in the 14th week: a case report by Vlk, R., Hromadnikova, I., Simandlova, M., Hrehorcak, M., Havlovicova, M., Halaska, M.

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Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism by Musova, Zuzana, Hancarova, Miroslava, Havlovicova, Marketa, Pourova, Radka, Hrdlicka, Michal, Kraus, Josef, Trkova, Marie, Stejskal, David, Sedlacek, Zdenek

“…Myotonic dystrophy type 1 (DM1) belongs to the broad spectrum of genetic disorders associated with autism spectrum disorders (ASD). ASD were reported…”
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Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism by Vazna, Alzbeta, Havlovicova, Marketa, Sedlacek, Zdenek

“…The breakpoint junction on a ring chromosome 17 in a girl with autism, mental retardation, mild dysmorphism and neurofibromatosis was identified and analysed…”
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Not EEG abnormalities but epilepsy is associated with autistic regression and mental functioning in childhood autism by HRDLICKA, Michal, KOMAREK, Vladimir, PROPPER, Lukas, KULISEK, Robert, ZUMROVA, Alena, FALADOVA, Ludvika, HAVLOVICOVA, Marketa, SEDLACEK, Zdenek, BLATNY, Marek, URBANEK, Tomas

“…The aim of the study was to investigate the potential association of epilepsy and EEG abnormalities with autistic regression and mental retardation. We…”
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Subtypes of autism by cluster analysis based on structural MRI data by HRDLICKA, Michal, DUDOVA, Iva, BLATNY, Marek, URBANEK, Tomas, BERANOVA, Irena, LISY, Jiri, BELSAN, Tomas, NEUWIRTH, Jiri, KOMAREK, Vladimir, FALADOVA, Ludvika, HAVLOVICOVA, Marketa, SEDLACEK, Zdenek

“…The aim of our study was to subcategorize Autistic Spectrum Disorders (ASD) using a multidisciplinary approach. Sixty four autistic patients (mean age…”
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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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Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring: Molecular genetic and phenotypic analysis in 14 Czech Kabuki syndrome patients by Paděrová, J., Holubová, A., Simandlová, M., Puchmajerová, A., Vlčková, M., Malíková, M., Pourová, R., Vejvalková, S., Havlovicová, M., Šenkeříková, M., Ptáková, N., Drábová, J., Geryk, J., Maver, A., Křepelová, A., Macek, M.

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Concomitancy of mutation in FRDA gene and FMR1 premutation in 58 year-old woman by Zumrová, Alena, Mazanec, Radim, Vyhnálek, Martin, Krepelová, Anna, Musová, Zuzana, Krilová, Stefanie, Appltová, Ludmila, Havlovicová, Markéta

“…DNA testing broadens diagnostic tools available for hereditary ataxias. However, together with current knowledge of genes and their mutations crop up new…”
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P07.06: Diagnosis of patent urachus in first trimester: a case report by Vlk, R., Spalova, I., Havlovicová, M., Halaska, M., Hanulikova, P., Schlegerová, J.

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Genetics of autism by Sedlácek, Z, Havlovicová, M, Hrdlicka, M

“…Autism is a severe psychiatric disorder characterised by deficits in social interaction, disturbed communication and adherence to stereotype routines and…”
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Specialized genetic counseling in pediatric and adult oncology patients by Krutílková, V, Havlovicová, M, Goetz, P

“…Five to ten percent of oncological diseases exhibit monogenic mode of inheritance. They occur as a consequence of the germline mutations of tumor suppressor…”
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P.6.011 Subtypes of autism by cluster analysis based on structural MRI data by Hrdlicka, M., Dudova, I., Beranova, I., Lisy, J., Belsan, T., Neuwirth, J., Komarek, V., Faladova, L., Sedlacek, Z., Havlovicová, M., Blatny, M., Urbanek, T.

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Psychosocial factors associated with genetic testing for certain hereditary types of neoplasms by Franková, V, Zidovská, J, Krutílková, V, Havlovicová, M, Goetz, P

“…Mutations in predisposing genes for some of the hereditary forms of cancer exhibit autosomal dominant mode of inheritance. Introduction of genetic tests for…”
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