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Discovery of Long Non-Coding RNA MALAT1 Amplification in Precancerous Colorectal Lesions

International journal of molecular sciences, 2022-07, Vol.23 (14), p.7656

2022

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A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature

Molecular cytogenetics, 2018-05, Vol.11 (1), p.29-7, Article 29

2018

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Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy

Human mutation, 2024-01, Vol.2024, p.1-10

2024

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Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found

Neuroscience letters, 2020-03, Vol.721, p.134800-134800, Article 134800

2020

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Association of 17q24.2‐q24.3 deletions with recognizable phenotype and short telomeres

American journal of medical genetics. Part A, 2018-06, Vol.176 (6), p.1438-1442

2018

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Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly

Human mutation, 2018-05, Vol.39 (5), p.709-716

2018

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Choledochal Cyst with 17q12 Chromosomal Duplication

Annals of human genetics, 2018-01, Vol.82 (1), p.48-51

2018

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

American journal of medical genetics. Part A, 2013-04, Vol.161 (4), p.865-870

2013

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Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype

European journal of medical genetics, 2018-06, Vol.61 (6), p.315-321

2018

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Abstract 760: Concordance of DNA copy number profiles between primary and metastatic colorectal carcinoma

Cancer research (Chicago, Ill.), 2022-06, Vol.82 (12_Supplement), p.760-760

2022

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Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers

Cytogenetic and genome research, 2018-01, Vol.154 (4), p.187-195

2018

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Abstract LB206: The progression of chromosomal instability and aberrant DNA methylation during colorectal cancer development

Cancer research (Chicago, Ill.), 2024-04, Vol.84 (7_Supplement), p.LB206-LB206

2024

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Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15

Gene, 2013-03, Vol.516 (1), p.158-161

2013

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Identification of a patient with intellectual disability and de novo 3.7Mb deletion supports the existence of a novel microdeletion syndrome in 2p14–p15

Gene, 2013-03, Vol.516 (1), p.158-161

2013

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Deletions of 9q21.3 including NTRK2 are associated with severe phenotype

American journal of medical genetics. Part A, 2015-01, Vol.167A (1), p.264-267

2015

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Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8

American journal of medical genetics. Part A, 2015-04, Vol.167A (4), p.837-841

2015

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Monozygotic Twins with 17q21.31 Microdeletion Syndrome

Twin research and human genetics, 2014-10, Vol.17 (5), p.405-410

2014

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Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes

European journal of medical genetics, 2013-03, Vol.56 (3), p.171-173

2013

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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

American journal of medical genetics. Part A, 2013-04, Vol.161 (4), p.865-870

2013

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A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications

Molecular cytogenetics, 2014-08, Vol.7 (1), p.51-51, Article 51

2014

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Array comparative genome hybridization in patients with developmental delay: two example cases

New biotechnology, 2012-02, Vol.29 (3), p.321-324

2012

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A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature

Molecular cytogenetics, 2018, Vol.11, p.29-29

2018

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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

American Journal of Medical Genetics Part A, 2013, Vol.161A (4), p.865-870

2013

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Non-pollen particulates in honey and sugar

Food additives & contaminants. Part A, Chemistry, analysis, control, exposure & risk assessment, 2013-12, Vol.30 (12), p.2136-2140

2013

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Streamlining sample preparation and gas chromatography–tandem mass spectrometry analysis of multiple pesticide residues in tea

Analytica chimica acta, 2012-09, Vol.743, p.51-60

2012

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Discovery of Long Non-Coding RNA MALAT1 Amplification in Precancerous Colorectal Lesions

A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature

Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy

Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found

Association of 17q24.2‐q24.3 deletions with recognizable phenotype and short telomeres

Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly

Choledochal Cyst with 17q12 Chromosomal Duplication

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

Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype

Abstract 760: Concordance of DNA copy number profiles between primary and metastatic colorectal carcinoma

Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers

Abstract LB206: The progression of chromosomal instability and aberrant DNA methylation during colorectal cancer development

Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15

Identification of a patient with intellectual disability and de novo 3.7Mb deletion supports the existence of a novel microdeletion syndrome in 2p14–p15

Deletions of 9q21.3 including NTRK2 are associated with severe phenotype

Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8

Monozygotic Twins with 17q21.31 Microdeletion Syndrome

Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes

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 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications

Array comparative genome hybridization in patients with developmental delay: two example cases

A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature

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

Non-pollen particulates in honey and sugar

Streamlining sample preparation and gas chromatography–tandem mass spectrometry analysis of multiple pesticide residues in tea

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