List of works - Dezso David

Analysis of the consequences of premature termination codons within factor VIII coding sequences.

scientific article published in January 2003

Analysis of the essential sequences of the factor VIII gene in twelve haemophilia A patients by single-stranded conformation polymorphism.

scientific article published in April 1994

Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2.

scientific 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

scientific article published on 27 March 2015

Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression.

scientific article published on 9 July 2013

Complex X chromosome rearrangement associated with multiorgan autoimmunity

scientific article published on 19 July 2015

Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape

scientific article published on 06 February 2020

Female haemophiliac homozygous for the factor VIII intron 22 inversion mutation, with transcriptional inactivation of one of the factor VIII alleles.

scientific article published in January 2003

Five novel factor IX mutations in unrelated hemophilia B patients ⬇️

scientific article published on January 1, 1998

Genetic defects in Portuguese families with inherited protein C deficiency

article

Genetic risk factors in acute coronary disease

scientific article published on 01 January 1999

Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by keratolenticular dysgenesis and ectopia lentis.

scientific article published on 2 January 2018

Molecular Analysis and Genetic Mapping of the Rhodopsin Gene in Families with Autosomal Dominant Retinitis Pigmentosa

article

Molecular characterization of a 7p15-21 homozygous deletion in a Wilms tumor

article

Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFbeta2 in the pathogenesis of Peters' anomaly

scientific article

Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families

article

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

scientific article

Partial trisomy of the pericentromeric region of chromosome 5 in a girl with binder phenotype.

scientific article published on 20 December 2014

Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes

scientific article published on 09 October 2018

Stable recombinant expression and characterization of the two haemophilic factor VIII variants C329S (CRM(-)) and G1948D (CRM(r)).

scientific article published in June 2001

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

scientific article

List of works by Dezso David

Analysis of the consequences of premature termination codons within factor VIII coding sequences.

Analysis of the essential sequences of the factor VIII gene in twelve haemophilia A patients by single-stranded conformation polymorphism.

Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2.

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

Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression.

Complex X chromosome rearrangement associated with multiorgan autoimmunity

Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape

Female haemophiliac homozygous for the factor VIII intron 22 inversion mutation, with transcriptional inactivation of one of the factor VIII alleles.

Five novel factor IX mutations in unrelated hemophilia B patients ⬇️

Genetic defects in Portuguese families with inherited protein C deficiency

Genetic risk factors in acute coronary disease

Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by keratolenticular dysgenesis and ectopia lentis.

Molecular Analysis and Genetic Mapping of the Rhodopsin Gene in Families with Autosomal Dominant Retinitis Pigmentosa

Molecular characterization of a 7p15-21 homozygous deletion in a Wilms tumor

Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFbeta2 in the pathogenesis of Peters' anomaly

Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

Partial trisomy of the pericentromeric region of chromosome 5 in a girl with binder phenotype.

Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes

Stable recombinant expression and characterization of the two haemophilic factor VIII variants C329S (CRM(-)) and G1948D (CRM(r)).

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.