Lista de obras - Ewa Zietkiewicz - Dominio Público Uruguay

3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL): cloning and characterization of a mouse liver HL cDNA and subchromosomal mapping of the human and mouse HL genes

artículo científico publicado en 1993

A young Alu subfamily amplified independently in human and African great apes lineages

artículo científico publicado en 1994

Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons.

artículo científico publicado en 2018

Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia.

artículo científico publicado en 2016

Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec

artículo científico publicado en 2005

Archaic lineages in the history of modern humans

artículo científico publicado en 2000

Are CpG sites mutation hot spots in the dystrophin gene?

article

Association of germline genetic variants in RFC, IL15 and VDR genes with minimal residual disease in pediatric B-cell precursor ALL.

artículo científico publicado en 2016

CFAP300: Mutations in Slavic Patients with Primary Ciliary Dyskinesia and a Role in Ciliary Dynein Arms Trafficking

scientific article published on 01 October 2019

CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients

artículo científico publicado en 2014

Carrier status diagnosis in Duchenne muscular dystrophy with "conformational" DNA polymorphism

artículo científico publicado en 1992

Carrier status for 3 most frequent CFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype

scientific article published on 01 January 2007

Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients

artículo científico publicado en 2014

Complementary DNA for 12-Kilodalton B Cell Growth Factor: Misassigned

artículo científico publicado en 1996

Complementary DNA for 12-kilodalton B cell growth factor: misassigned

artículo científico publicado en 1996

Correlation between the level of cytogenetic aberrations in cultured human lymphocytes and the age and gender of donors.

artículo científico publicado en 2006

Current genetic methodologies in the identification of disaster victims and in forensic analysis

artículo científico publicado en 2011

Cytogenetic perspective of ageing and longevity in men and women

scientific article published on January 2009

DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm

artículo científico publicado en 2008

Effects of age and gender on micronucleus and chromosome nondisjunction frequencies in centenarians and younger subjects

artículo científico publicado en 2007

EurEAs_Gplex--A new SNaPshot assay for continental population discrimination and gender identification

artículo científico publicado en 2015

European context of the diversity and phylogenetic position of SARS-CoV-2 sequences from Polish COVID-19 patients

artículo científico publicado en 2021

Evolution of secondary structure in the family of 7SL-like RNAs

scientific article published on 01 November 1994

Gene expression studies in cells from primary ciliary dyskinesia patients identify 208 potential ciliary genes.

artículo científico publicado en 2010

Genetic structure of the ancestral population of modern humans

artículo científico publicado en 1998

Genome fingerprinting by simple sequence repeat (SSR)-anchored polymerase chain reaction amplification.

artículo científico publicado en 1994

Haplotypes in the dystrophin DNA segment point to a mosaic origin of modern human diversity

artículo científico publicado en 2003

Human X-chromosomal lineages in Europe reveal Middle Eastern and Asiatic contacts.

artículo científico publicado en 2004

Identification of chrysanthemum cultivars and stability of DNA fingerprint patterns

artículo científico publicado en 1995

Impact of SNPs on methylation readouts by Illumina Infinium HumanMethylation450 BeadChip Array: implications for comparative population studies.

artículo científico publicado en 2015

In vitro culturing of ciliary respiratory cells--a model for studies of genetic diseases

artículo científico publicado en 2011

Is selection responsible for the low level of variation in the last intron of the ZFY locus?

artículo científico publicado en 1999

Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24-25.

artículo científico publicado en 2006

Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians

artículo científico publicado en 1996

Linkage mapping by simultaneous screening of multiple polymorphic loci using Alu oligonucleotide-directed PCR

artículo científico publicado en 1992

Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife

scientific article published on 10 December 2020

Modern human origins and prehistoric demography of Europe in light of the present-day genetic diversity

artículo científico publicado el 1 de enero de 2001

Monophyletic origin of Alu elements in primates

artículo científico publicado en 1998

Mosaic evolution of rodent B1 elements

artículo científico publicado en 1996

Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients

artículo científico publicado en 2012

Neutral polymorphisms in the deletion-prone regions of the dystrophin gene

scientific article published on 01 March 1995

Nuclear DNA diversity in worldwide distributed human populations

artículo científico publicado en 1997

Overall informativity, OI, in DNA polymorphisms revealed by inter-Alu PCR: detection of genomic rearrangements

artículo científico publicado en 1996

Phylogenetic affinities of tarsier in the context of primate Alu repeats

artículo científico publicado en 1999

Phylogenetic analysis of a reported complementary DNA sequence

artículo científico publicado en 1994

Phylogenetic and familial estimates of mitochondrial substitution rates: study of control region mutations in deep-rooting pedigrees

artículo científico publicado en 2001

Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD).

artículo científico publicado en 2010

Presence of autoantibodies and the clinical course of systemic lupus erythematosus

artículo científico publicado en 1986

RPGR mutations might cause reduced orientation of respiratory cilia

artículo científico publicado en 2012

Recent advances in primary ciliary dyskinesia genetics.

artículo científico publicado en 2014

Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q

article

Single-strand conformational polymorphisms (SSCP): detection of useful polymorphisms at the dystrophin locus

artículo científico publicado en 1992

Spatial and temporal distribution of the neutral polymorphisms in the last ZFX intron: analysis of the haplotype structure and genealogy

artículo científico publicado en 1999

Standardized nomenclature for Alu repeats

artículo científico publicado en 1996

The genetic clock and the age of the founder effect in growing populations: a lesson from French Canadians and Ashkenazim

artículo científico publicado en 1997

Transcriptome variation in human populations and its potential application in forensics

artículo científico publicado en 2019

Transcriptomic population markers for human population discrimination

artículo científico publicado en 2018

Translational readthrough potential of natural termination codons in eucaryotes--The impact of RNA sequence

artículo científico publicado en 2015

Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms

artículo científico publicado en 2019

Ubiquitous mammalian-wide interspersed repeats (MIRs) are molecular fossils from the mesozoic era

artículo científico publicado en 1995

ZMYND10--Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia

artículo científico publicado en 2016

[Cellular ribonucleoprotein antigens]

artículo científico publicado en 1985

[Occurrence of autoantibodies and the clinical course of mixed connective tissue disease, systemic scleroderma, dermatomyositis, polymyositis and Sjögren's syndrome]

artículo científico publicado en 1986

[The use of DNA recombination technics in human genetics]

scientific article published on 01 January 1987

[Use of DNA restriction fragment length polymorphisms in the diagnosis of genetically determined diseases]

artículo científico publicado en 1985

[Use of liposomes as carriers in the transport of substances of biological value to cells]

scientific article published on 01 January 1984

Lista de obras de Ewa Zietkiewicz

3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL): cloning and characterization of a mouse liver HL cDNA and subchromosomal mapping of the human and mouse HL genes

A young Alu subfamily amplified independently in human and African great apes lineages

Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons.

Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia.

Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec

Archaic lineages in the history of modern humans

Are CpG sites mutation hot spots in the dystrophin gene?

Association of germline genetic variants in RFC, IL15 and VDR genes with minimal residual disease in pediatric B-cell precursor ALL.

CFAP300: Mutations in Slavic Patients with Primary Ciliary Dyskinesia and a Role in Ciliary Dynein Arms Trafficking

CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients

Carrier status diagnosis in Duchenne muscular dystrophy with "conformational" DNA polymorphism

Carrier status for 3 most frequent CFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype

Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients

Complementary DNA for 12-Kilodalton B Cell Growth Factor: Misassigned

Complementary DNA for 12-kilodalton B cell growth factor: misassigned

Correlation between the level of cytogenetic aberrations in cultured human lymphocytes and the age and gender of donors.

Current genetic methodologies in the identification of disaster victims and in forensic analysis

Cytogenetic perspective of ageing and longevity in men and women

DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm

Effects of age and gender on micronucleus and chromosome nondisjunction frequencies in centenarians and younger subjects

EurEAs_Gplex--A new SNaPshot assay for continental population discrimination and gender identification

European context of the diversity and phylogenetic position of SARS-CoV-2 sequences from Polish COVID-19 patients

Evolution of secondary structure in the family of 7SL-like RNAs

Gene expression studies in cells from primary ciliary dyskinesia patients identify 208 potential ciliary genes.

Genetic structure of the ancestral population of modern humans

Genome fingerprinting by simple sequence repeat (SSR)-anchored polymerase chain reaction amplification.

Haplotypes in the dystrophin DNA segment point to a mosaic origin of modern human diversity

Human X-chromosomal lineages in Europe reveal Middle Eastern and Asiatic contacts.

Identification of chrysanthemum cultivars and stability of DNA fingerprint patterns

Impact of SNPs on methylation readouts by Illumina Infinium HumanMethylation450 BeadChip Array: implications for comparative population studies.

In vitro culturing of ciliary respiratory cells--a model for studies of genetic diseases

Is selection responsible for the low level of variation in the last intron of the ZFY locus?

Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24-25.

Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians

Linkage mapping by simultaneous screening of multiple polymorphic loci using Alu oligonucleotide-directed PCR

Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife

Modern human origins and prehistoric demography of Europe in light of the present-day genetic diversity

Monophyletic origin of Alu elements in primates

Mosaic evolution of rodent B1 elements

Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients

Neutral polymorphisms in the deletion-prone regions of the dystrophin gene

Nuclear DNA diversity in worldwide distributed human populations

Overall informativity, OI, in DNA polymorphisms revealed by inter-Alu PCR: detection of genomic rearrangements

Phylogenetic affinities of tarsier in the context of primate Alu repeats

Phylogenetic analysis of a reported complementary DNA sequence

Phylogenetic and familial estimates of mitochondrial substitution rates: study of control region mutations in deep-rooting pedigrees

Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD).

Presence of autoantibodies and the clinical course of systemic lupus erythematosus

RPGR mutations might cause reduced orientation of respiratory cilia

Recent advances in primary ciliary dyskinesia genetics.

Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q

Single-strand conformational polymorphisms (SSCP): detection of useful polymorphisms at the dystrophin locus

Spatial and temporal distribution of the neutral polymorphisms in the last ZFX intron: analysis of the haplotype structure and genealogy

Standardized nomenclature for Alu repeats

The genetic clock and the age of the founder effect in growing populations: a lesson from French Canadians and Ashkenazim

Transcriptome variation in human populations and its potential application in forensics

Transcriptomic population markers for human population discrimination

Translational readthrough potential of natural termination codons in eucaryotes--The impact of RNA sequence

Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms

Ubiquitous mammalian-wide interspersed repeats (MIRs) are molecular fossils from the mesozoic era

ZMYND10--Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia

[Cellular ribonucleoprotein antigens]

[Occurrence of autoantibodies and the clinical course of mixed connective tissue disease, systemic scleroderma, dermatomyositis, polymyositis and Sjögren's syndrome]

[The use of DNA recombination technics in human genetics]

[Use of DNA restriction fragment length polymorphisms in the diagnosis of genetically determined diseases]

[Use of liposomes as carriers in the transport of substances of biological value to cells]