Lista de obras - Evica Rajcan-Separovic - Dominio Público Uruguay

15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH.

artículo científico publicado en 2006

2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders

artículo científico publicado en 2011

A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.

artículo científico publicado en 2005

Assignment of human inhibitor of apoptosis protein (IAP) genes xiap, hiap-1, and hiap-2 to chromosomes Xq25 and 11q22-q23 by fluorescence in situ hybridization

artículo científico publicado en 1996

Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders

artículo científico publicado en 2012

Autism-associated familial microdeletion of Xp11.22

artículo científico publicado en 2008

Chromosome microarrays in human reproduction ⬇️

artículo científico publicado el 2 de junio de 2012

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

artículo científico publicado en 2007

Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.

artículo científico

Comparative genomic hybridization of Wilms' tumor.

artículo científico

Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).

artículo científico publicado en 2014

Defective hematopoiesis and hepatic steatosis in mice with combined deficiencies of the genes encoding Fancc and Cu/Zn superoxide dismutase

scientific journal article

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

artículo científico publicado en 2010

Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH.

artículo científico publicado en 2004

Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication

artículo científico publicado en 2016

Expression and genetic analysis of XIAP-associated factor 1 (XAF1) in cancer cell lines

artículo científico publicado en 2000

FISH detection of chromosome polymorphism and deletions in the spinal muscular atrophy (SMA) region of 5q13

artículo científico publicado en 1996

Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions

artículo científico publicado en 2003

Fluorescence in situ hybridization analysis of complex translocations in two newly diagnosed Philadelphia chromosome-positive chronic myelogenous leukemia patients

artículo científico

Fluorescence in situ hybridization analysis of the replication properties of the myotonic dystrophy protein kinase (DMPK) gene region

article

Fluorescence in situ hybridization of bovine Alu-like sequences to bovine and ovine chromosomes

scientific article published on 01 October 1993

Functional consequences of copy number variants in miscarriage.

artículo científico publicado en 2015

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

artículo científico publicado en 2011

Genomic changes detected by array CGH in human embryos with developmental defects

artículo científico publicado en 2009

Genomic characteristics of miscarriage copy number variants

artículo científico publicado en 2015

Genomic organization of the X-linked inhibitor of apoptosis and identification of a novel testis-specific transcript

artículo científico publicado en 2001

Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism

artículo científico

High-resolution Human Genome Scanning Using Whole-genome BAC Arrays

artículo científico publicado en 2003

Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy loss

Identification of the origin of double minutes in normal human cells by laser-based chromosome microdissection approach

artículo científico publicado en 1995

Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.

artículo científico publicado en 2016

Interactive Exploration, Analysis, and Visualization of Complex Phenome-Genome Datasets with ASPIREdb

artículo científico publicado en 2016

Interphase fluorescence in situ hybridization and DNA flow cytometry analysis of medulloblastomas with a normal karyotype

artículo científico publicado en 2002

Large-scale copy number variants (CNVs): distribution in normal subjects and FISH/real-time qPCR analysis

artículo científico publicado en 2007

Loss of 1p and 7p in radiation-induced meningiomas identified by comparative genomic hybridization

artículo científico publicado en 2003

Metaphase FISHing of transgenic mice recommended: FISH and SKY define BAC-mediated balanced translocation

article

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

artículo científico publicado en 2011

Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability

artículo científico publicado en 2009

Molecular cytogenetics in reproductive pathology

artículo científico publicado en 2002

Non-muscle myosin heavy chain (MYH9): a new partner fused to ALK in anaplastic large cell lymphoma

artículo científico publicado en 2003

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

artículo científico publicado en 2006

Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics

artículo científico publicado en 2010

Phenomic determinants of genomic variation in autism spectrum disorders

artículo científico publicado en 2009

Phenotype–genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3

article

Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2

artículo científico publicado en 2013

Putatively benign copy number variants in subjects with idiopathic autism spectrum disorder and/or intellectual disability

artículo científico publicado en 2008

Recurrent trisomy 15 in a female carrier of der(15)t(Y;15)(q12;p13)

artículo científico publicado en 2001

Screening for submicroscopic chromosomal rearrangements in Wilms tumor using whole-genome microarrays

artículo científico publicado en 2008

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

artículo científico publicado en 2008

The role of MAGT1 in genetic syndromes

artículo científico publicado en 2015

Understanding the impact of 1q21.1 copy number variant

artículo científico publicado en 2011

Unexpected embryonic stem (ES) cell mutations represent a concern in gene targeting: lessons from "fierce" mice

scientific journal article

Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes

artículo científico publicado en 2014

Whole exome sequencing in recurrent early pregnancy loss

artículo científico publicado en 2016

Whole exome sequencing of families with 1q21.1 microdeletion or microduplication

artículo científico publicado en 2017

miRNA and miRNA target genes in copy number variations occurring in individuals with intellectual disability

artículo científico publicado en 2013

Lista de obras de Evica Rajcan-Separovic

15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH.

2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders

A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.

Assignment of human inhibitor of apoptosis protein (IAP) genes xiap, hiap-1, and hiap-2 to chromosomes Xq25 and 11q22-q23 by fluorescence in situ hybridization

Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders

Autism-associated familial microdeletion of Xp11.22

Chromosome microarrays in human reproduction ⬇️

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.

Comparative genomic hybridization of Wilms' tumor.

Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).

Defective hematopoiesis and hepatic steatosis in mice with combined deficiencies of the genes encoding Fancc and Cu/Zn superoxide dismutase

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH.

Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication

Expression and genetic analysis of XIAP-associated factor 1 (XAF1) in cancer cell lines

FISH detection of chromosome polymorphism and deletions in the spinal muscular atrophy (SMA) region of 5q13

Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions

Fluorescence in situ hybridization analysis of complex translocations in two newly diagnosed Philadelphia chromosome-positive chronic myelogenous leukemia patients

Fluorescence in situ hybridization analysis of the replication properties of the myotonic dystrophy protein kinase (DMPK) gene region

Fluorescence in situ hybridization of bovine Alu-like sequences to bovine and ovine chromosomes

Functional consequences of copy number variants in miscarriage.

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

Genomic changes detected by array CGH in human embryos with developmental defects

Genomic characteristics of miscarriage copy number variants

Genomic organization of the X-linked inhibitor of apoptosis and identification of a novel testis-specific transcript

Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism

High-resolution Human Genome Scanning Using Whole-genome BAC Arrays

Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy loss

Identification of the origin of double minutes in normal human cells by laser-based chromosome microdissection approach

Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.

Interactive Exploration, Analysis, and Visualization of Complex Phenome-Genome Datasets with ASPIREdb

Interphase fluorescence in situ hybridization and DNA flow cytometry analysis of medulloblastomas with a normal karyotype

Large-scale copy number variants (CNVs): distribution in normal subjects and FISH/real-time qPCR analysis

Loss of 1p and 7p in radiation-induced meningiomas identified by comparative genomic hybridization

Metaphase FISHing of transgenic mice recommended: FISH and SKY define BAC-mediated balanced translocation

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability

Molecular cytogenetics in reproductive pathology

Non-muscle myosin heavy chain (MYH9): a new partner fused to ALK in anaplastic large cell lymphoma

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics

Phenomic determinants of genomic variation in autism spectrum disorders

Phenotype–genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3

Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2

Putatively benign copy number variants in subjects with idiopathic autism spectrum disorder and/or intellectual disability

Recurrent trisomy 15 in a female carrier of der(15)t(Y;15)(q12;p13)

Screening for submicroscopic chromosomal rearrangements in Wilms tumor using whole-genome microarrays

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

The role of MAGT1 in genetic syndromes

Understanding the impact of 1q21.1 copy number variant

Unexpected embryonic stem (ES) cell mutations represent a concern in gene targeting: lessons from "fierce" mice

Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes

Whole exome sequencing in recurrent early pregnancy loss

Whole exome sequencing of families with 1q21.1 microdeletion or microduplication

miRNA and miRNA target genes in copy number variations occurring in individuals with intellectual disability