Balanced chromosomal rearrangements implicate YIPF5 and SPATC1L in non-obstructive oligoasthenozoospermia and oligozoospermia and of a derivative chromosome 22 in recurrent miscarriage
David, Dezső, Fino, Joana, Oliveira, Renata, Dória, Sofia, Morton, Cynthia C.
Published in Gene (15.12.2023)
Published in Gene (15.12.2023)
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Journal Article
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)
Da Silva, Jorge Diogo, Oliva-Teles, Natália, Tkachenko, Nataliya, Fino, Joana, Marques, Mariana, Fortuna, Ana Maria, David, Dezso
Published in Biomedicines (01.01.2023)
Published in Biomedicines (01.01.2023)
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Journal Article
Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis
David, Dezső, Anand, Deepti, Araújo, Carlos, Gloss, Brian, Fino, Joana, Dinger, Marcel, Lindahl, Päivi, Pöyhönen, Minna, Hannele, Laivuori, Lavinha, João
Published in Experimental eye research (01.03.2018)
Published in Experimental eye research (01.03.2018)
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Journal Article
Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature
Lengyel, Anna, Pinti, Éva, Pikó, Henriett, Jávorszky, Eszter, David, Dezső, Tihanyi, Mariann, Gönczi, Éva, Kiss, Eszter, Tóth, Zsuzsa, Tory, Kálmán, Fekete, György, Haltrich, Irén
Published in European journal of medical genetics (01.10.2020)
Published in European journal of medical genetics (01.10.2020)
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Journal Article
Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes
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
Published in Congenital anomalies (01.09.2019)
Published in Congenital anomalies (01.09.2019)
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Journal Article
Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression
David, Dezső, Marques, Bárbara, Ferreira, Cristina, Araújo, Carlos, Vieira, Luís, Soares, Gabriela, Dias, Cristina, Pinto, Maximina
Published in Human genetics (01.11.2013)
Published in Human genetics (01.11.2013)
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Journal Article
Genetic defects in Portuguese families with inherited protein C deficiency
David, Dezső, Ferreira, Cristina, Ventura, Célia, Freire, Isabel, Moreira, Isabel, Gago, Teresa
Published in Thrombosis research (01.09.2011)
Published in Thrombosis research (01.09.2011)
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Journal Article
Complex X chromosome rearrangement associated with multiorgan autoimmunity
Haltrich, Irén, Pikó, Henriett, Pamjav, Horolma, Somogyi, Anikó, Völgyi, Antónia, David, Dezső, Beke, Artúr, Garamvölgyi, Zoltán, Kiss, Eszter, Karcagi, Veronika, Fekete, György
Published in Molecular cytogenetics (19.07.2015)
Published in Molecular cytogenetics (19.07.2015)
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Journal Article
Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2
David, Dezso, Marques, Bárbara, Ferreira, Cristina, Vieira, Paula, Corona-Rivera, Alfredo, Ferreira, José Carlos, van Bokhoven, Hans
Published in European journal of human genetics : EJHG (01.08.2009)
Published in European journal of human genetics : EJHG (01.08.2009)
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Journal Article
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
David, Dezső, Almeida, Lígia S., Maggi, Maristella, Araújo, Carlos, Imreh, Stefan, Valentini, Giovanna, Fekete, György, Haltrich, Irén
Published in JIMD Reports, Volume 23 (01.01.2015)
Published in JIMD Reports, Volume 23 (01.01.2015)
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Book Chapter
Journal Article
Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape
David, Dezső, Freixo, João P., Fino, Joana, Carvalho, Inês, Marques, Mariana, Cardoso, Manuela, Piña-Aguilar, Raul E., Morton, Cynthia C.
Published in Human genetics (01.04.2020)
Published in Human genetics (01.04.2020)
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Journal Article
Measuring drone flight-stability using computer vision
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Journal Article
Conference Proceeding
Mutations in ARHGEF6 , encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
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
Published in Nature genetics (01.10.2000)
Published in Nature genetics (01.10.2000)
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Journal Article
The spectrum of mutations and molecular pathogenesis of hemophilia A in 181 Portuguese patients
David, D, Ventura, C, Moreira, I, Diniz, MJ, Antunes, M, Tavares, A, Araujo, F, Morais, S, Campos, M, Lavinha, J, Kemball-Cook, G
Published in Haematologica (Roma) (01.06.2006)
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Published in Haematologica (Roma) (01.06.2006)
Journal Article
Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFβ2 in the pathogenesis of Peters’ anomaly
David, Dezsö, Cardoso, Joana, Marques, B.árbara, Marques, Ramira, Silva, Eduardo D, Santos, Heloisa, Boavida, Maria G
Published in Genomics (San Diego, Calif.) (01.05.2003)
Published in Genomics (San Diego, Calif.) (01.05.2003)
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Journal Article
Development of ECG measurement and processing system in LabVIEW environment
Dezső, Dávid, Győri, Gyula, Husi, Géza
Published in International review of applied sciences and engineering (Online) (01.04.2021)
Published in International review of applied sciences and engineering (Online) (01.04.2021)
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Journal Article