Publications by authors named "Dezso David"

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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.
Dezső David, Joana Fino, Renata Oliveira, Sofia Dória, Cynthia C Morton

Gene· December 2023

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A Novel Frameshift 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).
Jorge Diogo Da Silva, Natália Oliva-Teles, Nataliya Tkachenko, Joana Fino, Mariana Marques, Dezso David

Biomedicines· December 2022

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Editorial: Chromosome structural variants: Epidemiology, identification and contribution to human diseases.
Zirui Dong, Dezso David, Claudia Gonzaga-Jauregui, Cynthia C Morton, Cinthya J Zepeda-Mendoza

Front Genet· September 2022

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Corrigendum: SVInterpreter: A Comprehensive Topologically Associated Domain Based Clinical Outcome Prediction Tool for Balanced and Unbalanced Structural Variants.
Joana Fino, Bárbara Marques, Zirui Dong, Dezso David

Front Genet· February 2022

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SVInterpreter: A Comprehensive Topologically Associated Domain-Based Clinical Outcome Prediction Tool for Balanced and Unbalanced Structural Variants.
Joana Fino, Bárbara Marques, Zirui Dong, Dezső David

Front Genet· December 2021

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Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature.
Anna Lengyel, Éva Pinti, Henriett Pikó, Eszter Jávorszky, Dezső David

Eur J Med Genet· October 2020

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Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape.
Dezső David, João P Freixo, Joana Fino, Inês Carvalho, Mariana Marques

Hum Genet· April 2020

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Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes.
Jorge Román Corona-Rivera, Alfredo Corona-Rivera, Luz Consuelo Zepeda-Romero, Izabel Maryalexandra Rios-Flores, Jehú Rivera-Vargas, Dezső David

Congenit Anom (Kyoto)· September 2019

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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.
Dezső David, Deepti Anand, Carlos Araújo, Brian Gloss, Joana Fino

Exp Eye Res· March 2018

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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Claire Redin, Harrison Brand, Ryan L Collins, Tammy Kammin, Elyse Mitchell, Dezso David, David R FitzPatrick, David J Harris, David A Koolen

Nat Genet· January 2017

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Complex X chromosome rearrangement associated with multiorgan autoimmunity.
Irén Haltrich, Henriett Pikó, Horolma Pamjav, Anikó Somogyi, Antónia Völgyi, Dezső David

Mol Cytogenet· July 2015

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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.
Dezső David, Lígia S Almeida, Maristella Maggi, Carlos Araújo, Stefan Imreh

JIMD Rep· June 2015

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Partial trisomy of the pericentromeric region of chromosome 5 in a girl with binder phenotype.
Kinga Hadzsiev, Dezső Dávid, Gyula Szabó, Márta Czakó, Béla Melegh

Cytogenet Genome Res· April 2015

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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.
Dezső David, Bárbara Marques, Cristina Ferreira, Carlos Araújo, Luís Vieira

Hum Genet· November 2013

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Genetic defects in Portuguese families with inherited protein C deficiency.
Dezso David, Cristina Ferreira, Célia Ventura, Isabel Freire, Isabel Moreira

Thromb Res· September 2011

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Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2.
Dezso David, Bárbara Marques, Cristina Ferreira, Paula Vieira, Alfredo Corona-Rivera

Eur J Hum Genet· August 2009

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The spectrum of mutations and molecular pathogenesis of hemophilia A in 181 Portuguese patients.
Dezsö David, Célia Ventura, Isabel Moreira, Maria J Diniz, Margarida Antunes

Haematologica· June 2006

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Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors.
Dezsö David, Sofia Ribeiro, Lénia Ferrão, Teresa Gago, Francisco Crespo

Am J Hematol· June 2004

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Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFbeta2 in the pathogenesis of Peters' anomaly.
Dezsö David, Joana Cardoso, Bárbara Marques, Ramira Marques, Eduardo D Silva

Genomics· May 2003

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Molecular characterization of a 7p15-21 homozygous deletion in a Wilms tumor.
Khalid Sossey-Alaoui, Luís Vieira, Dezso David, Maria G Boavida, John K Cowell

Genes Chromosomes Cancer· January 2003

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