List of works - Monika Gos

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.

scientific article published on 23 July 2012

Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.

scientific article published on 21 April 2015

Cellular quiescence induced by contact inhibition or serum withdrawal in C3H10T1/2 cells.

scientific article

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity

scientific article (publication date: September 2014)

Correction to: Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling

scholarly article by Anna Kutkowska-Kazmierczak et al published May 2018 in Journal of Applied Genetics

Correction to: Splicing mutations in human genetic disorders: examples, detection, and confirmation

scientific article published on 01 May 2019

Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling

scientific article published in February 2018

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.

scientific article published in May 2011

Effect of transfection with a gene coding for the fibronectin FNIII/10 fragment upon contact inhibition of C3H10T1/2 fibroblasts

article

Epigenetic mechanisms of gene expression regulation in neurological diseases

scientific article published on January 2013

Genetic analysis in inherited metabolic disorders--from diagnosis to treatment. Own experience, current state of knowledge and perspectives

scientific article published on January 2015

Genetic basis of neural tube defects. I. Regulatory genes for the neurulation process.

scientific article

Genetic basis of neural tube defects. II. Genes correlated with folate and methionine metabolism.

scientific article

Identification of mutations in the NF2 gene in Polish patients with neurofibromatosis type 2.

scientific article

MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease

scientific article published on 25 May 2018

Mantle cell lymphoma presenting with paraproteinemia.

scientific article

Molecular signature of cell cycle exit induced in human T lymphoblasts by IL-2 withdrawal

scientific article

Monoallelic and biallelic deletions of 13q14 in a group of CLL/SLL patients investigated by CGH Haematological Cancer and SNP array (8x60K).

scientific article

Mouse sarcoma L1 cell line holoclones have a stemness signature.

scientific article published on June 2010

Mutation incidence in folate metabolism genes and regulatory genes in Polish families with neural tube defects

scientific article

Neurofibromin - protein structure and cellular functions in the context of neurofibromatosis type I pathogenesis

scientific article

Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease

scientific article

Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects

scientific article published on 27 June 2016

Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients

scientific article published on 24 April 2014

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

scientific article

Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs

scientific article

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.

scientific article published on 15 December 2013

Splicing mutations in human genetic disorders: examples, detection, and confirmation

scientific article published on 21 April 2018

Successful Salvage Treosulfan-Based Megachemotherapy With Allogeneic Stem Cell Transplantation in Nonsyndromic, Therapy-Resistant Disseminated Juvenile Xanthogranuloma: A Case Report

scientific article published on 16 July 2020

The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes.

scientific article published on July 2014

The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12 -related disorders

scientific article published on 09 August 2018

The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene

article

Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.

scientific article published on 02 September 2016

TrkB expression level correlates with metastatic properties of L1 mouse sarcoma cells cultured in non-adhesive conditions

scientific article published on April 2013

Unusual cyclin D1 positive marginal zone lymphoma of mediastinum.

scientific article published in January 2006

[Analysis of genomic imprinting defects in Angelman syndrome with application of quantitative real-time PCR]

scientific article published on 01 April 2009

[Angelman syndrome--the research model of epigenetic mechanisms expression genes regulation]

scientific article published on 01 April 2009

[Epithelial-mesenchymal transition in cancer progression]

scientific article published on 01 January 2009

[Fragile X syndrome and FMR1-dependent diseases - clinical presentation, epidemiology and molecular background].

scientific article published in January 2018

[Fragile X syndrome and FMR1-dependent diseases - diagnostic scheme based on own experience .]

[Inherited skin diseases - a review of selected genodermatoses]

scientific article published on 01 July 2012

[RAS/MAPK signal transduction pathway and its role in the pathogenesis of Noonan syndrome].

scientific article published in January 2012

List of works by Monika Gos

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.

Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.

Cellular quiescence induced by contact inhibition or serum withdrawal in C3H10T1/2 cells.

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity

Correction to: Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling

Correction to: Splicing mutations in human genetic disorders: examples, detection, and confirmation

Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.

Effect of transfection with a gene coding for the fibronectin FNIII/10 fragment upon contact inhibition of C3H10T1/2 fibroblasts

Epigenetic mechanisms of gene expression regulation in neurological diseases

Genetic analysis in inherited metabolic disorders--from diagnosis to treatment. Own experience, current state of knowledge and perspectives

Genetic basis of neural tube defects. I. Regulatory genes for the neurulation process.

Genetic basis of neural tube defects. II. Genes correlated with folate and methionine metabolism.

Identification of mutations in the NF2 gene in Polish patients with neurofibromatosis type 2.

MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease

Mantle cell lymphoma presenting with paraproteinemia.

Molecular signature of cell cycle exit induced in human T lymphoblasts by IL-2 withdrawal

Monoallelic and biallelic deletions of 13q14 in a group of CLL/SLL patients investigated by CGH Haematological Cancer and SNP array (8x60K).

Mouse sarcoma L1 cell line holoclones have a stemness signature.

Mutation incidence in folate metabolism genes and regulatory genes in Polish families with neural tube defects

Neurofibromin - protein structure and cellular functions in the context of neurofibromatosis type I pathogenesis

Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease

Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects

Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.

Splicing mutations in human genetic disorders: examples, detection, and confirmation

Successful Salvage Treosulfan-Based Megachemotherapy With Allogeneic Stem Cell Transplantation in Nonsyndromic, Therapy-Resistant Disseminated Juvenile Xanthogranuloma: A Case Report

The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes.

The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12 -related disorders

The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene

Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.

TrkB expression level correlates with metastatic properties of L1 mouse sarcoma cells cultured in non-adhesive conditions

Unusual cyclin D1 positive marginal zone lymphoma of mediastinum.

[Analysis of genomic imprinting defects in Angelman syndrome with application of quantitative real-time PCR]

[Angelman syndrome--the research model of epigenetic mechanisms expression genes regulation]

[Epithelial-mesenchymal transition in cancer progression]

[Fragile X syndrome and FMR1-dependent diseases - clinical presentation, epidemiology and molecular background].

[Fragile X syndrome and FMR1-dependent diseases - diagnostic scheme based on own experience .]

[Inherited skin diseases - a review of selected genodermatoses]

[RAS/MAPK signal transduction pathway and its role in the pathogenesis of Noonan syndrome].