Lista de obras - Ants Kurg - Dominio Público Uruguay

9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features.

artículo científico publicado en 2011

A dual colour FISH method for routine validation of sexed Bos taurus semen

artículo científico publicado en 2019

A first-generation linkage disequilibrium map of human chromosome 22

artículo científico publicado en 2002

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

artículo científico publicado en 2010

A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features.

artículo científico publicado en 2012

A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia

artículo científico publicado en 2010

A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome

artículo científico publicado en 2013

A speculative outlook on embryonic aneuploidy: can molecular pathways be involved?

artículo científico publicado en 2018

An RNA Stem-Loop Structure Involved in the Packaging of Bovine Leukemia Virus Genomic RNA in Vivo ⬇️

artículo científico publicado el 20 de agosto de 1995

Analysis of SNP profiles in patients with major depressive disorder

scholarly article by Sulev Kõks et al published April 2006 in The International Journal of Neuropsychopharmacology

Application of two different microarray-based copy-number detection methodologies – array-comparative genomic hybridization and array-multiplex amplifiable probe hybridization – with identical amplifiable target sequences

Array-MAPH: a methodology for the detection of locus copy-number changes in complex genomes

Association study of 90 candidate gene polymorphisms in panic disorder

artículo científico publicado en 2005

Association study of sporadic Parkinson's disease genetic risk factors in patients from Russia by APEX technology

artículo científico publicado en 2006

Balanced reciprocal translocation t(5;13)(q33;q12) and 9q31.1 microduplication in a man suffering from infertility and pollinosis

artículo científico publicado en 2011

Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases

artículo científico publicado en 2016

Detection of NASBA amplified bacterial tmRNA molecules on SLICSel designed microarray probes

artículo científico publicado en 2011

Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization

Detection of tmRNA molecules on microarrays at low temperatures using helper oligonucleotides

artículo científico publicado en 2010

Direct use of cell lysates in PCR-based diagnosis of bovine leukemia virus infection.

artículo científico publicado en 1996

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

artículo científico publicado en 2013

Evaluating the arrayed primer extension resequencing assay of TP53 tumor suppressor gene

artículo científico publicado en 2002

Evaluation of polymerase chain reaction (PCR) application in diagnosis of bovine leukaemia virus (BLV) infection in naturally infected cattle.

artículo científico publicado en 1996

Fluorescent labeling of NASBA amplified tmRNA molecules for microarray applications

scientific article published on 15 May 2009

Fluoride-cleavable, fluorescently labelled reversible terminators: synthesis and use in primer extension ⬇️

artículo científico publicado en 2011

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

artículo científico publicado en 2009

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

artículo científico publicado en 2009

Genome stability of bovine in vivo-conceived cleavage-stage embryos is higher compared to in vitro-produced embryos.

artículo científico publicado en 2017

In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages

scientific article published on 04 November 2019

Karyotype of the blastocoel fluid demonstrates low concordance with both trophectoderm and inner cell mass

artículo científico publicado en 2018

Label-free, multiplexed detection of bacterial tmRNA using silicon photonic microring resonators

artículo científico publicado en 2012

MAPH: from gels to microarrays.

artículo científico publicado en 2005

Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two families

artículo científico publicado en 2011

Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays.

artículo científico publicado en 1997

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

artículo científico publicado en 2011

Monozygotic twins with 17q21.31 microdeletion syndrome

scientific article published on 09 June 2014

NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies

artículo científico publicado en 2018

Nucleic acid detection technologies and marker molecules in bacterial diagnostics.

artículo científico

Oligonucleotide Array for Mutation Analysis in Familial Breast Cancer

artículo científico publicado en 1999

Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature.

artículo científico

Polymorphisms in wolframin (WFS1) gene are possibly related to increased risk for mood disorders

Provirus Variants of the Bovine Leukemia Virus and Their Relation to the Serological Status of Naturally Infected Cattle ⬇️

artículo científico publicado el 27 de octubre de 1997

Reliable detection of beta-thalassemia and G6PD mutations by a DNA microarray

artículo científico publicado en 2002

Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.

artículo científico publicado en 2007

Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome

artículo científico publicado en 2015

Synthesis of four colors fluorescently labelled 3'-O-blocked nucleotides with fluoride cleavable blocking group and linker for array based Sequencing-by-Synthesis applications

artículo científico publicado en 2008

The human WBSCR22 protein is involved in the biogenesis of the 40S ribosomal subunits in mammalian cells

artículo científico publicado en 2013

The prevalence and phenotypic characteristics of spontaneous premature ovarian failure: a general population registry-based study

artículo científico publicado en 2015

Unravelling genetic data by arrayed primer extension.

artículo científico publicado en 2000

Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage-stage chimerism and mixoploidy

artículo científico publicado en 2016

Lista de obras de Ants Kurg

9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features.

A dual colour FISH method for routine validation of sexed Bos taurus semen

A first-generation linkage disequilibrium map of human chromosome 22

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features.

A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia

A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome

A speculative outlook on embryonic aneuploidy: can molecular pathways be involved?

An RNA Stem-Loop Structure Involved in the Packaging of Bovine Leukemia Virus Genomic RNA in Vivo ⬇️

Analysis of SNP profiles in patients with major depressive disorder

Application of two different microarray-based copy-number detection methodologies – array-comparative genomic hybridization and array-multiplex amplifiable probe hybridization – with identical amplifiable target sequences

Array-MAPH: a methodology for the detection of locus copy-number changes in complex genomes

Association study of 90 candidate gene polymorphisms in panic disorder

Association study of sporadic Parkinson's disease genetic risk factors in patients from Russia by APEX technology

Balanced reciprocal translocation t(5;13)(q33;q12) and 9q31.1 microduplication in a man suffering from infertility and pollinosis

Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases

Detection of NASBA amplified bacterial tmRNA molecules on SLICSel designed microarray probes

Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization

Detection of tmRNA molecules on microarrays at low temperatures using helper oligonucleotides

Direct use of cell lysates in PCR-based diagnosis of bovine leukemia virus infection.

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

Evaluating the arrayed primer extension resequencing assay of TP53 tumor suppressor gene

Evaluation of polymerase chain reaction (PCR) application in diagnosis of bovine leukaemia virus (BLV) infection in naturally infected cattle.

Fluorescent labeling of NASBA amplified tmRNA molecules for microarray applications

Fluoride-cleavable, fluorescently labelled reversible terminators: synthesis and use in primer extension ⬇️

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Genome stability of bovine in vivo-conceived cleavage-stage embryos is higher compared to in vitro-produced embryos.

In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages

Karyotype of the blastocoel fluid demonstrates low concordance with both trophectoderm and inner cell mass

Label-free, multiplexed detection of bacterial tmRNA using silicon photonic microring resonators

MAPH: from gels to microarrays.

Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two families

Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays.

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

Monozygotic twins with 17q21.31 microdeletion syndrome

NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies

Nucleic acid detection technologies and marker molecules in bacterial diagnostics.

Oligonucleotide Array for Mutation Analysis in Familial Breast Cancer

Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature.

Polymorphisms in wolframin (WFS1) gene are possibly related to increased risk for mood disorders

Provirus Variants of the Bovine Leukemia Virus and Their Relation to the Serological Status of Naturally Infected Cattle ⬇️

Reliable detection of beta-thalassemia and G6PD mutations by a DNA microarray

Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.

Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome

Synthesis of four colors fluorescently labelled 3'-O-blocked nucleotides with fluoride cleavable blocking group and linker for array based Sequencing-by-Synthesis applications

The human WBSCR22 protein is involved in the biogenesis of the 40S ribosomal subunits in mammalian cells

The prevalence and phenotypic characteristics of spontaneous premature ovarian failure: a general population registry-based study

Unravelling genetic data by arrayed primer extension.

Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage-stage chimerism and mixoploidy