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TITLE: SVInterpreter: A Comprehensive Topologically Associated Domain-Based Clinical Outcome Prediction Tool for Balanced and Unbalanced Structural Variants  Full Text
AUTHORS: Fino, J; Marques, B; Dong, ZR; David, D;
PUBLISHED: 2021, SOURCE: FRONTIERS IN GENETICS, VOLUME: 12
INDEXED IN: WOS
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TITLE: Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape  Full Text
AUTHORS: Dezso David; Joao P Freixo; Joana Fino; Ines Carvalho; Mariana Marques; Manuela Cardoso; Raul E Pina Aguilar; Cynthia C Morton;
PUBLISHED: 2020, SOURCE: HUMAN GENETICS, VOLUME: 139, ISSUE: 4
INDEXED IN: Scopus WOS
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TITLE: Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature
AUTHORS: Anna Lengyel; Eva Pinti; Henriett Piko; Eszter Javorszky; Dezso David; Mariann Tihanyi; Eva Gonczi; Eszter Kiss; Zsuzsa Toth; Kalman Tory; Gyorgy Fekete; Iren Haltrich;
PUBLISHED: 2020, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 63, ISSUE: 10
INDEXED IN: Scopus WOS
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TITLE: Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes  Full Text
AUTHORS: Jorge R Roman Corona Rivera; Alfredo Corona Rivera; Luz C Consuelo Zepeda Romero; Izabel M Maryalexandra Rios Flores; Jehu Rivera Vargas; Mireya Orozco Vela; Uriel F Francisco Santana Bejarano; Elizabeth Torres Anguiano; Manuela Pinto Cardoso; Dezso David; Lucina Bobadilla Morales;
PUBLISHED: 2019, SOURCE: CONGENITAL ANOMALIES, VOLUME: 59, ISSUE: 5
INDEXED IN: WOS
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TITLE: Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis  Full Text
AUTHORS: Dezso David; Deepti Anand; Carlos Araujo; Brian Gloss; Joana Fino; Marcel Dinger; Paivi Lindahl; Minna Poyhonen; Laivuori Hannele; Joao Lavinha;
PUBLISHED: 2018, SOURCE: EXPERIMENTAL EYE RESEARCH, VOLUME: 168
INDEXED IN: Scopus WOS
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TITLE: Complex X chromosome rearrangement associated with multiorgan autoimmunity  Full Text
AUTHORS: Iren Haltrich; Henriett Piko; Horolma Pamjav; Aniko Somogyi; Antonia Voelgyi; Dezso David; Artur Beke; Zoltan Garamvoelgyi; Eszter Kiss; Veronika Karcagi; Gyoergy Fekete;
PUBLISHED: 2015, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 8, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
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TITLE: Partial Trisomy of the Pericentromeric Region of Chromosome 5 in a Girl with Binder Phenotype
AUTHORS: Kinga Hadzsiev; Dezso David; Gyula Szabo; Marta Czako; Bela Melegh; Gyoergy Kosztolanyi;
PUBLISHED: 2014, SOURCE: CYTOGENETIC AND GENOME RESEARCH, VOLUME: 144, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
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TITLE: Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression  Full Text
AUTHORS: Dezso David; Barbara Marques; Cristina Ferreira; Carlos Araujo; Luis Vieira ; Gabriela Soares; Cristina Dias; Maximina Pinto;
PUBLISHED: 2013, SOURCE: HUMAN GENETICS, VOLUME: 132, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef: 2
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TITLE: Genetic defects in Portuguese families with inherited protein C deficiency  Full Text
AUTHORS: Dezso David; Cristina Ferreira; Celia Ventura; Isabel Freire; Isabel Moreira; Teresa Gago;
PUBLISHED: 2011, SOURCE: THROMBOSIS RESEARCH, VOLUME: 128, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 1
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TITLE: A pathogenic breakpoint at 566.8 kb from the 3 ' end of the SATB2 leads to a 2q33.1 microdeletion-like phenotype  Full Text
AUTHORS: Dezso David; Ines Santos; Barbara Marques; Hildeberto Correia; Filomena Teixeira;
PUBLISHED: 2011, SOURCE: CHROMOSOME RESEARCH, VOLUME: 19
INDEXED IN: WOS
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