Search Results - "David, Dezső"

Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape by David, Dezső, Freixo, João P., Fino, Joana, Carvalho, Inês, Marques, Mariana, Cardoso, Manuela, Piña-Aguilar, Raul E., Morton, Cynthia C.

“…We present a comprehensive clinically oriented workflow for large-insert genome sequencing (liGS)-based nucleotide level resolution and interpretation of de…”
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SVInterpreter: A Comprehensive Topologically Associated Domain-Based Clinical Outcome Prediction Tool for Balanced and Unbalanced Structural Variants by Vieira Fino, Joana Rita, Nunes Lopes Marques, Bárbara Sofia, Dong, Zirui Elvis, David, Dezso

“…Erratum Front Genet. 2022 Feb 25;13:868306. doi: 10.3389/fgene.2022.868306. eCollection 2022. With the advent of genomic sequencing, a number of balanced and…”
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Balanced chromosomal rearrangements implicate YIPF5 and SPATC1L in non-obstructive oligoasthenozoospermia and oligozoospermia and of a derivative chromosome 22 in recurrent miscarriage by David, Dezső, Fino, Joana, Oliveira, Renata, Dória, Sofia, Morton, Cynthia C.

“…•We present supporting evidence for the existence of loci at 5q23 and at the tip of chromosome 21 for oligoasthenozoospermia (YIPF5) and oligozoospermia…”
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Corrigendum: SVInterpreter: A Comprehensive Topologically Associated Domain Based Clinical Outcome Prediction Tool for Balanced and Unbalanced Structural Variants by Fino, Joana, Marques, Bárbara, Dong, Zirui, David, Dezso

“…[This corrects the article DOI: 10.3389/fgene.2021.757170.]…”
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Development of ECG measurement and processing system in LabVIEW environment by Dezső, Dávid, Győri, Gyula, Husi, Géza

“…In this project an ECG measurement and wave identification system was made. The measuring system hardware is based on a Texas Instruments ADS1298ECG amplifier…”
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Editorial: Chromosome structural variants: Epidemiology, identification and contribution to human diseases by Dong, Zirui, David, Dezso, Gonzaga-Jauregui, Claudia, Morton, Cynthia C., Zepeda-Mendoza, Cinthya J.

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A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1) by Da Silva, Jorge Diogo, Oliva-Teles, Natália, Tkachenko, Nataliya, Fino, Joana, Marques, Mariana, Fortuna, Ana Maria, David, Dezso

“…The genetic complexity of neurodevelopmental disorders (NDD), combined with a heterogeneous clinical presentation, makes accurate assessment of their molecular…”
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Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis by David, Dezső, Anand, Deepti, Araújo, Carlos, Gloss, Brian, Fino, Joana, Dinger, Marcel, Lindahl, Päivi, Pöyhönen, Minna, Hannele, Laivuori, Lavinha, João

“…Keratolenticular dysgenesis (KLD) and ectopia lentis are congenital eye defects. The aim of this study is the identification of molecular genetic alterations…”
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Measuring drone flight-stability using computer vision by Dávid Dezső, Kornél Sarvajcz

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Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature by Lengyel, Anna, Pinti, Éva, Pikó, Henriett, Jávorszky, Eszter, David, Dezső, Tihanyi, Mariann, Gönczi, Éva, Kiss, Eszter, Tóth, Zsuzsa, Tory, Kálmán, Fekete, György, Haltrich, Irén

“…The short arm of chromosome 16 (16p) is enriched for segmental duplications, making it susceptible to recurrent, reciprocal rearrangements implicated in the…”
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Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes by Corona‐Rivera, Jorge Román, Corona‐Rivera, Alfredo, Zepeda‐Romero, Luz Consuelo, Rios‐Flores, Izabel Maryalexandra, Rivera‐Vargas, Jehú, Orozco‐Vela, Mireya, Santana‐Bejarano, Uriel Francisco, Torres‐Anguiano, Elizabeth, Pinto‐Cardoso, Manuela, David, Dezső, Bobadilla‐Morales, Lucina

“…Here, we report a patient with ring chromosome 6 [r(6)], associated with anterior segment dysgenesis (ASD) and other anomalies. The phenotype was due to a 1880…”
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Mutations in ARHGEF6 , encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation by Gal, Andreas, Kutsche, Kerstin, Yntema, Helger, Brandt, Alexander, Jantke, Inka, Gerd Nothwang, Hans, Orth, Ulrike, Boavida, Maria G, David, Dezsö, Chelly, Jamel, Fryns, Jean-Pierre, Moraine, Claude, Ropers, Hans-Hilger, Hamel, Ben C.J, van Bokhoven, Hans

“…X-linked forms of mental retardation (XLMR) include a variety of different disorders and may account for up to 25% of all inherited cases of mental…”
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Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression by David, Dezső, Marques, Bárbara, Ferreira, Cristina, Araújo, Carlos, Vieira, Luís, Soares, Gabriela, Dias, Cristina, Pinto, Maximina

“…Trichorhinophalangeal syndrome type I (TRPS I) is a rare autosomal dominant syndrome caused by haploinsufficiency of TRPS1 due to point mutations or deletions…”
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Genetic defects in Portuguese families with inherited protein C deficiency by David, Dezső, Ferreira, Cristina, Ventura, Célia, Freire, Isabel, Moreira, Isabel, Gago, Teresa

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Complex X chromosome rearrangement associated with multiorgan autoimmunity by Haltrich, Irén, Pikó, Henriett, Pamjav, Horolma, Somogyi, Anikó, Völgyi, Antónia, David, Dezső, Beke, Artúr, Garamvölgyi, Zoltán, Kiss, Eszter, Karcagi, Veronika, Fekete, György

“…Turner syndrome, a congenital condition that affects 1/2,500 births, results from absence or structural alteration of the second sex chromosome. Turner…”
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Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2 by David, Dezso, Marques, Bárbara, Ferreira, Cristina, Vieira, Paula, Corona-Rivera, Alfredo, Ferreira, José Carlos, van Bokhoven, Hans

“…Split hand-split foot malformation or ectrodactyly is a heterogeneous congenital defect of digit formation. The aim of this study is the mapping of the…”
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The spectrum of mutations and molecular pathogenesis of hemophilia A in 181 Portuguese patients by David, D, Ventura, C, Moreira, I, Diniz, MJ, Antunes, M, Tavares, A, Araujo, F, Morais, S, Campos, M, Lavinha, J, Kemball-Cook, G

“…Centro de Genetica Humana, Instituto Nacional de Saude, Lisboa, Portugal. dezso.david@insa.min-saude.pt Disease-causing alterations within the F8 gene were…”
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Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFβ2 in the pathogenesis of Peters’ anomaly by David, Dezsö, Cardoso, Joana, Marques, B.árbara, Marques, Ramira, Silva, Eduardo D, Santos, Heloisa, Boavida, Maria G

“…Peters’ anomaly (PA) is a congenital defect of the anterior chamber of the eye. We identified a family in which an apparently balanced chromosomal…”
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Measuring drone flight-stability using computer vision by Dezső, Dávid, Sarvajcz, Kornél

“…In this project we made an image processing software that we used to examine drone flight stability. One can read about the closed loop control of a…”
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Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene by David, Dezső, Almeida, Lígia S., Maggi, Maristella, Araújo, Carlos, Imreh, Stefan, Valentini, Giovanna, Fekete, György, Haltrich, Irén

“…Carriers of cytogenetically similar, apparently balanced familial chromosome translocations not always exhibit the putative translocation-associated disease…”
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