Lista de obras - Maria Tzetis - Dominio Público Uruguay

A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array

scientific article published on 12 December 2018

Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B

artículo científico publicado en 2002

An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.

artículo científico publicado en 2015

An unusual case of cat‐eye syndrome phenotype and extragonadal mature teratoma: Review of the literature ⬇️

artículo científico publicado el 22 de junio de 2012

Application of high-resolution array comparative genomic hybridization in children with unknown syndromic microcephaly

artículo científico publicado en 2017

Are ALOX5AP gene SNPs a risk or protective factor for stroke?

artículo científico publicado en 2014

Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease.

artículo científico publicado en 2013

Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation.

artículo científico publicado en 2013

Association of MMP-1 -1607 1G/2G (rs1799750) polymorphism with primary knee osteoarthritis in the Greek population

artículo científico publicado en 2014

Association of repeat polymorphisms in the estrogen receptors alpha, beta (ESR1, ESR2) and androgen receptor (AR) genes with the occurrence of breast cancer

artículo científico publicado en 2007

Association of the CALM1 core promoter polymorphism with knee osteoarthritis in patients of Greek origin

scientific article published on 01 June 2008

BTNL2 gene SNPs as a contributing factor to sarcoidosis pathogenesis in a cohort of Greek patients

artículo científico publicado en 2014

CFTR gene mutations--including three novel nucleotide substitutions--and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease

scientific article published on 01 March 2001

Can trophectoderm RNA analysis predict human blastocyst competency?

scientific article published on 27 June 2019

Central precocious puberty in a boy with 22q13 deletion syndrome and NOTCH-1 gene duplication.

artículo científico publicado en 2016

Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations

scientific article published on 01 January 1997

Characterization of nondeletion alpha-thalassemia mutations in the Greek population

scientific article published on 01 November 1993

Chronic p53-independent p21 expression causes genomic instability by deregulating replication licensing

artículo científico publicado en 2016

Clinical and molecular description of a fetus in prenatal diagnosis with a rare de novo ring 10 and deletions of 12.59 Mb in 10p15.3-p14 and 4.22 Mb in 10q26.3.

artículo científico publicado en 2011

Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.

artículo científico publicado en 2010

Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses

artículo científico publicado en 2016

Congenital Cataracts, Facial Dysmorphism, and Neuropathy Syndrome: Additional Clinical Features

artículo científico publicado en 2016

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

artículo científico publicado en 2008

Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis

article

Cystic fibrosis conductance regulator, tumor necrosis factor, interferon alpha-10, interferon alpha-17, and interferon gamma genotyping as potential risk markers in pulmonary sarcoidosis pathogenesis in Greek patients

artículo científico publicado en 2010

Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene

artículo científico publicado en 2012

Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals

artículo científico publicado en 2003

Cystic fibrosis mutation screening in CBAVD patients and men with obstructive azoospermia or severe oligozoospermia

artículo científico publicado en 1998

Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom

artículo científico publicado en 2007

De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature

artículo científico publicado en 2010

Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations

scientific article published on 01 January 2000

Development of a novel microarray methodology for the study of SNPs in the promoter region of the TNF-alpha gene: their association with obstructive pulmonary disease in Greek patients.

artículo científico publicado en 2007

Development of novel microarray methodology for the study of mutations in the SERPINA1 and ADRB2 genes--their association with Obstructive Pulmonary Disease and Disseminated Bronchiectasis in Greek patients

artículo científico publicado en 2009

Dysregulated placental microRNAs in Early and Late onset Preeclampsia.

artículo científico publicado en 2017

Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.

artículo científico publicado en 2015

Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis

artículo científico publicado en 2018

Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations

artículo científico publicado en 1998

Familial Pelizaeus–Merzbacher disease caused by a 320.6‐kb Xq22.2 duplication and the pathological findings of a male fetus ⬇️

artículo científico publicado el 18 de abril de 2012

Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype.

artículo científico

Generation of human β-thalassemia induced pluripotent cell lines by reprogramming of bone marrow-derived mesenchymal stromal cells using modified mRNA.

artículo científico publicado en 2014

Genetic polymorphisms in the UGT1A1 gene and breast cancer risk in Greek women.

artículo científico publicado en 2007

Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases

artículo científico publicado en 2016

Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B)

artículo científico publicado en 2004

Gilbert syndrome as a predisposing factor for cholelithiasis risk in the Greek adult population

artículo científico publicado en 2009

Gilbert syndrome associated with beta-thalassemia

artículo científico publicado en 2001

Hematologic phenotype of the mutations IVS1-n6 (T-->C), IVS1-n110 (G-->A), and CD39 (C-->T) in carriers of beta-thalassemia in Greece

artículo científico publicado en 1994

High resolution Chromosomal Microarray Analysis (CMA) enhances the genetic profile of pediatric B-cell Acute Lymphoblastic Leukemia patients

artículo científico publicado en 2019

Identification of two novel mutations (296 + 1G-C and A46D) in exon 2 of the CFTR gene in Greek cystic fibrosis patients

artículo científico publicado en 1995

Inducible nitric oxide synthase as a target for osteoarthritis treatment

artículo científico publicado en 2018

Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

artículo científico publicado en 2008

Maternal epigenetics and fetal and neonatal growth.

artículo científico publicado en 2016

Mesenchymal derivatives of genetically unstable human embryonic stem cells are maintained unstable but undergo senescence in culture as do bone marrow-derived mesenchymal stem cells.

artículo científico publicado en 2013

Meta-analysis of association between the ASPN D-repeat and osteoarthritis

artículo científico publicado en 2007

Methods for RNA extraction, cDNA preparation and analysis of CFTR transcripts.

artículo científico publicado en 2004

Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH.

artículo científico publicado en 2011

Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies

artículo científico publicado en 2013

Molecular characterization of homozygous (high HbA2) beta-thalassemia intermedia in Greece

artículo científico publicado en 1995

Multi-allele genotyping platform for the simultaneous detection of mutations in the Wilson disease related ATP7B gene

artículo científico publicado en 2015

Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation

scientific article published on 01 September 1995

Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA

article

Potential sperm contributions to the murine zygote predicted by in silico analysis.

artículo científico publicado en 2017

Prenatal diagnosis for CF using High Resolution Melting Analysis and simultaneous haplotype analysis through QF-PCR

artículo científico publicado en 2014

Quadruple-allele dipstick test for simultaneous visual genotyping of A896G (Asp299Gly) and C1196T (Thr399Ile) polymorphisms in the toll-like receptor-4 gene

article

Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene

artículo científico publicado en 2001

Quantitative methods for the analysis of CFTR transcripts/splicing variants.

artículo científico publicado en 2004

Rapid clinical-scale propagation of mesenchymal stem cells using cultures initiated with immunoselected bone marrow CD105+ cells.

artículo científico publicado en 2011

Rapid screening of multiple beta-globin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes.

artículo científico publicado en 2003

Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis

scientific article published on 01 May 2004

Recommendations for the classification of diseases as CFTR-related disorders

scientific article published on June 2011

Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications

artículo científico publicado en 2016

Reprogramming of bone marrow derived mesenchymal stromal cells to human induced pluripotent stem cells from pediatric patients with hematological diseases using a commercial mRNA kit

artículo científico publicado en 2019

Serum microRNA array analysis identifies miR-140-3p, miR-33b-3p and miR-671-3p as potential osteoarthritis biomarkers involved in metabolic processes.

artículo científico publicado en 2017

Single-cell high resolution melting analysis: A novel, generic, pre-implantation genetic diagnosis (PGD) method applied to cystic fibrosis (HRMA CF-PGD).

artículo científico publicado en 2015

Steroid hormones polymorphisms and cholelithiasis in Greek population

scientific article published on 01 February 2007

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

scientific journal article

The Corfu delta beta thalassaemia mutation in Greece: haematological phenotype and prevalence.

artículo científico publicado en 1991

The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.

artículo científico publicado en 2012

The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

artículo científico publicado en 2015

The lysine-specific methyltransferase KMT2C/MLL3 regulates DNA repair components in cancer

scientific article published on 21 January 2019

Therapeutic Effects of Mesenchymal Stem Cells Derived From Bone Marrow, Umbilical Cord Blood, and Pluripotent Stem Cells in a Mouse Model of Chemically Induced Inflammatory Bowel Disease

scientific article published on 01 October 2019

Trigonocephaly and Wilson's disease in two siblings

artículo científico publicado en 2005

VPA-induced recurrent pancreatitis in a cystic fibrosis carrier

scientific article published on 20 July 2011

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign

artículo científico publicado en 2003

Wilson disease in children: analysis of 57 cases

artículo científico publicado en 2009

miR-15a and miR-24-1 as putative prognostic microRNA signatures for pediatric pilocytic astrocytomas and ependymomas

artículo científico publicado en 2016

Lista de obras de Maria Tzetis

A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array

Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B

An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.

An unusual case of cat‐eye syndrome phenotype and extragonadal mature teratoma: Review of the literature ⬇️

Application of high-resolution array comparative genomic hybridization in children with unknown syndromic microcephaly

Are ALOX5AP gene SNPs a risk or protective factor for stroke?

Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease.

Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation.

Association of MMP-1 -1607 1G/2G (rs1799750) polymorphism with primary knee osteoarthritis in the Greek population

Association of repeat polymorphisms in the estrogen receptors alpha, beta (ESR1, ESR2) and androgen receptor (AR) genes with the occurrence of breast cancer

Association of the CALM1 core promoter polymorphism with knee osteoarthritis in patients of Greek origin

BTNL2 gene SNPs as a contributing factor to sarcoidosis pathogenesis in a cohort of Greek patients

CFTR gene mutations--including three novel nucleotide substitutions--and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease

Can trophectoderm RNA analysis predict human blastocyst competency?

Central precocious puberty in a boy with 22q13 deletion syndrome and NOTCH-1 gene duplication.

Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations

Characterization of nondeletion alpha-thalassemia mutations in the Greek population

Chronic p53-independent p21 expression causes genomic instability by deregulating replication licensing

Clinical and molecular description of a fetus in prenatal diagnosis with a rare de novo ring 10 and deletions of 12.59 Mb in 10p15.3-p14 and 4.22 Mb in 10q26.3.

Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.

Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses

Congenital Cataracts, Facial Dysmorphism, and Neuropathy Syndrome: Additional Clinical Features

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis

Cystic fibrosis conductance regulator, tumor necrosis factor, interferon alpha-10, interferon alpha-17, and interferon gamma genotyping as potential risk markers in pulmonary sarcoidosis pathogenesis in Greek patients

Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene

Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals

Cystic fibrosis mutation screening in CBAVD patients and men with obstructive azoospermia or severe oligozoospermia

Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom

De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature

Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations

Development of a novel microarray methodology for the study of SNPs in the promoter region of the TNF-alpha gene: their association with obstructive pulmonary disease in Greek patients.

Development of novel microarray methodology for the study of mutations in the SERPINA1 and ADRB2 genes--their association with Obstructive Pulmonary Disease and Disseminated Bronchiectasis in Greek patients

Dysregulated placental microRNAs in Early and Late onset Preeclampsia.

Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.

Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis

Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations

Familial Pelizaeus–Merzbacher disease caused by a 320.6‐kb Xq22.2 duplication and the pathological findings of a male fetus ⬇️

Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype.

Generation of human β-thalassemia induced pluripotent cell lines by reprogramming of bone marrow-derived mesenchymal stromal cells using modified mRNA.

Genetic polymorphisms in the UGT1A1 gene and breast cancer risk in Greek women.

Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases

Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B)

Gilbert syndrome as a predisposing factor for cholelithiasis risk in the Greek adult population

Gilbert syndrome associated with beta-thalassemia

Hematologic phenotype of the mutations IVS1-n6 (T-->C), IVS1-n110 (G-->A), and CD39 (C-->T) in carriers of beta-thalassemia in Greece

High resolution Chromosomal Microarray Analysis (CMA) enhances the genetic profile of pediatric B-cell Acute Lymphoblastic Leukemia patients

Identification of two novel mutations (296 + 1G-C and A46D) in exon 2 of the CFTR gene in Greek cystic fibrosis patients

Inducible nitric oxide synthase as a target for osteoarthritis treatment

Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

Maternal epigenetics and fetal and neonatal growth.

Mesenchymal derivatives of genetically unstable human embryonic stem cells are maintained unstable but undergo senescence in culture as do bone marrow-derived mesenchymal stem cells.

Meta-analysis of association between the ASPN D-repeat and osteoarthritis

Methods for RNA extraction, cDNA preparation and analysis of CFTR transcripts.

Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH.

Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies

Molecular characterization of homozygous (high HbA2) beta-thalassemia intermedia in Greece

Multi-allele genotyping platform for the simultaneous detection of mutations in the Wilson disease related ATP7B gene

Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation

Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA

Potential sperm contributions to the murine zygote predicted by in silico analysis.

Prenatal diagnosis for CF using High Resolution Melting Analysis and simultaneous haplotype analysis through QF-PCR

Quadruple-allele dipstick test for simultaneous visual genotyping of A896G (Asp299Gly) and C1196T (Thr399Ile) polymorphisms in the toll-like receptor-4 gene

Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene

Quantitative methods for the analysis of CFTR transcripts/splicing variants.

Rapid clinical-scale propagation of mesenchymal stem cells using cultures initiated with immunoselected bone marrow CD105+ cells.

Rapid screening of multiple beta-globin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes.

Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis

Recommendations for the classification of diseases as CFTR-related disorders

Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications

Reprogramming of bone marrow derived mesenchymal stromal cells to human induced pluripotent stem cells from pediatric patients with hematological diseases using a commercial mRNA kit

Serum microRNA array analysis identifies miR-140-3p, miR-33b-3p and miR-671-3p as potential osteoarthritis biomarkers involved in metabolic processes.

Single-cell high resolution melting analysis: A novel, generic, pre-implantation genetic diagnosis (PGD) method applied to cystic fibrosis (HRMA CF-PGD).

Steroid hormones polymorphisms and cholelithiasis in Greek population

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

The Corfu delta beta thalassaemia mutation in Greece: haematological phenotype and prevalence.

The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.

The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

The lysine-specific methyltransferase KMT2C/MLL3 regulates DNA repair components in cancer