Lista de obras - Irina Golovleva - Dominio Público Uruguay

A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population.

artículo científico publicado en 2009

A population based cohort study of patients with multiple colon and endometrial cancer: Correlation of microsatellite instability (msi) status, age at diagnosis and cancer risk

artículo científico publicado en 2001

ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing

scientific article published on 20 February 2018

Additional aberrations of the ETV6 and RUNX1 genes have no prognostic impact in 229 t(12;21)(p13;q22)-positive B-cell precursor acute lymphoblastic leukaemias treated according to the NOPHO-ALL-2000 protocol

article

Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure

scientific article published on 09 September 2008

An increased incidence of Propionibacterium acnes biofilms in acne vulgaris: a case-control study

artículo científico publicado en 2012

Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance

artículo científico publicado en 2008

Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1.

artículo científico publicado en 2008

Central retinal findings in Bothnia dystrophy caused by RLBP1 sequence variation

artículo científico publicado en 2010

Characterisation of dic(9;20)(p11-13;q11) in childhood B-cell precursor acute lymphoblastic leukaemia by tiling resolution array-based comparative genomic hybridisation reveals clustered breakpoints at 9p13.2 and 20q11.2.

artículo científico publicado en 2006

Characterization and tissue-specific expression of human LRIG2.

artículo científico publicado en 2004

Chromosome aberrations including der(6)t(2;6)(p15;p21.3) and der(22)t(3;22)(p21;p11) in the evolution of essential thrombocythemia to myelofibrosis with myeloid metaplasia

scientific article published on 01 February 2006

Clinical and cytogenetic features of a population-based consecutive series of 285 pediatric T-cell acute lymphoblastic leukemias: rare T-cell receptor gene rearrangements are associated with poor outcome

artículo científico publicado en 2009

Clinical and cytogenetic features of pediatric dic(9;20)(p13.2;q11.2)-positive B-cell precursor acute lymphoblastic leukemias: a Nordic series of 24 cases and review of the literature

artículo científico publicado en 2008

Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries

artículo científico publicado en 2014

Cloning, characterization, and expression of human LIG1.

artículo científico publicado en 2001

Co-existence of pseudo-Chediak-Higashi anomaly and double minutes containing C-MYC oncogene in three patients with AML M2

artículo científico publicado en 2002

Co-incidental increase in gene copy number of ERBB2 and LRIG1 in breast cancer

scientific article published on 12 May 2009

Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23.

artículo científico publicado en 2013

Correction: Increased copy number at 3p14 in breast cancer.

artículo científico publicado en 2006

Cytogenetic patterns in ETV6/RUNX1-positive pediatric B-cell precursor acute lymphoblastic leukemia: A Nordic series of 245 cases and review of the literature

artículo científico publicado en 2007

DNA methylation and copy number variation profiling of T-cell lymphoblastic leukemia and lymphoma

scientific article published on 28 April 2020

Differential tissue specific expression of Kif23 alternative transcripts in mice with the human mutation causing congenital dyserythropoietic anemia type III

artículo científico publicado en 2020

Direct visualization of Propionibacterium acnes in prostate tissue by multicolor fluorescent in situ hybridization assay

artículo científico publicado en 2007

Disease-causing mutations in the cellular retinaldehyde binding protein tighten and abolish ligand interactions

artículo científico publicado en 2003

Effects of prolonged dark adaptation in patients with retinitis pigmentosa of Bothnia type: an electrophysiological study

artículo científico publicado en 2007

Emergence of Philadelphia positive chronic myeloid leukaemia during treatment with hydroxyurea for Philadelphia negative essential thrombocythaemia

artículo científico publicado en 2003

Ethnic differences in interferon-alpha allele frequencies

artículo científico publicado en 1997

Genetic Heterogeneity and Clinical Outcome in a Swedish Family with Retinal Degeneration Caused by Mutations in CRB1 and ABCA4 Genes

article

Genetic risk variants in the CDKN2A/B, RTEL1 and EGFR genes are associated with somatic biomarkers in glioma

artículo científico publicado en 2016

Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.

artículo científico publicado en 2012

High levels of the AR-V7 Splice Variant and Co-Amplification of the Golgi Protein Coding YIPF6 in AR Amplified Prostate Cancer Bone Metastases

artículo científico publicado en 2017

High modal number and triple trisomies are highly correlated favorable factors in childhood B-cell precursor high hyperdiploid acute lymphoblastic leukemia treated according to the NOPHO ALL 1992/2000 protocols

artículo científico publicado en 2013

Human ameloblastin gene: genomic organization and mutation analysis in amelogenesis imperfecta patients

article

Improved outcome in adult acute myeloid leukemia is almost entirely restricted to young patients and associated with stem cell transplantation

artículo científico publicado en 2002

Increased copy number at 3p14 in breast cancer

artículo científico publicado en 2005

Induction chemotherapy and post-remission imatinib therapy for de NovoBCR-ABL-positive AML

artículo científico publicado en 2006

Interferon-alpha and p53 alleles involved in nasopharyngeal carcinoma

artículo científico publicado en 1997

LRIG1 expression in colorectal cancer

artículo científico publicado en 2007

Loss of chromosomes is the primary event in near-haploid and low-hypodiploid acute lymphoblastic leukemia

artículo científico publicado en 2012

Microbiology of folliculitis: a histological study of 39 cases

artículo científico publicado en 2013

Molecular and clinical characterization of patients with overlapping 10p deletions

article published in 2010

Mutation analysis and copy number alterations of KIF23 in non-small-cell lung cancer exhibiting KIF23 over-expression

artículo científico publicado en 2017

Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden

artículo científico publicado en 2004

Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families

artículo científico publicado en 2008

Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families

article

Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern Sweden

artículo científico publicado en 2010

Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED).

artículo científico publicado en 2015

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

scientific article published on 22 August 2018

Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in causing severe retinitis pigmentosa

Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family

artículo científico publicado en 2013

Novel variants of human IFN-alpha detected in tumor cell lines and biopsy specimens.

artículo científico publicado en 1997

Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation

artículo científico publicado en 2012

Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene

artículo científico publicado en 2001

Outcome of ETV6/RUNX1-positive childhood acute lymphoblastic leukaemia in the NOPHO-ALL-1992 protocol: frequent late relapses but good overall survival

article

PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.

artículo científico publicado en 2010

Paediatric B-cell precursor acute lymphoblastic leukaemia with t(1;19)(q23;p13): clinical and cytogenetic characteristics of 47 cases from the Nordic countries treated according to NOPHO protocols

artículo científico publicado en 2011

Pattern of tissue invasion by Propionibacterium acnes in acne vulgaris

artículo científico publicado en 2012

Prognostic significance of risk group stratification in elderly patients with acute myeloid leukaemia

artículo científico publicado en 2001

Reduction in WT1 Gene Expression During Early Treatment Predicts the Outcome in Patients With Acute Myeloid Leukemia

article

Retinal function in Bothnia dystrophy. An electrophysiological study

artículo científico publicado en 2003

Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies NovelLCA5Mutations and New Genotype-Phenotype Correlations

Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations

artículo científico publicado en 2013

Simultaneous visualization of Propionibacterium acnes and Propionibacterium granulosum with immunofluorescence and fluorescence in situ hybridization

artículo científico publicado en 2013

Spatial distribution of bacterial–fungal communities in facial skin

scientific article published on 07 December 2012

Spontaneously immortalized human T lymphocytes develop gain of chromosomal region 2p13-24 as an early and common genetic event.

artículo científico publicado en 2004

The Genetic Architecture of Gliomagenesis-Genetic Risk Variants Linked to Specific Molecular Subtypes

scientific article published on 12 December 2019

The clinical impact of IKZF1 deletions in paediatric B-cell precursor acute lymphoblastic leukaemia is independent of minimal residual disease stratification in Nordic Society for Paediatric Haematology and Oncology treatment protocols used between 1

artículo científico publicado en 2015

The frequency and prognostic impact of dic(9;20)(p13.2;q11.2) in childhood B-cell precursor acute lymphoblastic leukemia: results from the NOPHO ALL-2000 trial

artículo científico publicado en 2011

Tinted contact lenses in Bothnia dystrophy

artículo científico publicado en 2007

Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome.

artículo científico publicado en 2005

Vascular density in childhood acute lymphoblastic leukaemia correlates to biological factors and outcome

artículo científico publicado en 2009

hTERT gene copy number is not associated with hTERT RNA expression or telomerase activity in colorectal cancer

article

Lista de obras de Irina Golovleva

A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population.

A population based cohort study of patients with multiple colon and endometrial cancer: Correlation of microsatellite instability (msi) status, age at diagnosis and cancer risk

ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing

Additional aberrations of the ETV6 and RUNX1 genes have no prognostic impact in 229 t(12;21)(p13;q22)-positive B-cell precursor acute lymphoblastic leukaemias treated according to the NOPHO-ALL-2000 protocol

Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure

An increased incidence of Propionibacterium acnes biofilms in acne vulgaris: a case-control study

Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance

Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1.

Central retinal findings in Bothnia dystrophy caused by RLBP1 sequence variation

Characterisation of dic(9;20)(p11-13;q11) in childhood B-cell precursor acute lymphoblastic leukaemia by tiling resolution array-based comparative genomic hybridisation reveals clustered breakpoints at 9p13.2 and 20q11.2.

Characterization and tissue-specific expression of human LRIG2.

Chromosome aberrations including der(6)t(2;6)(p15;p21.3) and der(22)t(3;22)(p21;p11) in the evolution of essential thrombocythemia to myelofibrosis with myeloid metaplasia

Clinical and cytogenetic features of a population-based consecutive series of 285 pediatric T-cell acute lymphoblastic leukemias: rare T-cell receptor gene rearrangements are associated with poor outcome

Clinical and cytogenetic features of pediatric dic(9;20)(p13.2;q11.2)-positive B-cell precursor acute lymphoblastic leukemias: a Nordic series of 24 cases and review of the literature

Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries

Cloning, characterization, and expression of human LIG1.

Co-existence of pseudo-Chediak-Higashi anomaly and double minutes containing C-MYC oncogene in three patients with AML M2

Co-incidental increase in gene copy number of ERBB2 and LRIG1 in breast cancer

Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23.

Correction: Increased copy number at 3p14 in breast cancer.

Cytogenetic patterns in ETV6/RUNX1-positive pediatric B-cell precursor acute lymphoblastic leukemia: A Nordic series of 245 cases and review of the literature

DNA methylation and copy number variation profiling of T-cell lymphoblastic leukemia and lymphoma

Differential tissue specific expression of Kif23 alternative transcripts in mice with the human mutation causing congenital dyserythropoietic anemia type III

Direct visualization of Propionibacterium acnes in prostate tissue by multicolor fluorescent in situ hybridization assay

Disease-causing mutations in the cellular retinaldehyde binding protein tighten and abolish ligand interactions

Effects of prolonged dark adaptation in patients with retinitis pigmentosa of Bothnia type: an electrophysiological study

Emergence of Philadelphia positive chronic myeloid leukaemia during treatment with hydroxyurea for Philadelphia negative essential thrombocythaemia

Ethnic differences in interferon-alpha allele frequencies

Genetic Heterogeneity and Clinical Outcome in a Swedish Family with Retinal Degeneration Caused by Mutations in CRB1 and ABCA4 Genes

Genetic risk variants in the CDKN2A/B, RTEL1 and EGFR genes are associated with somatic biomarkers in glioma

Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.

High levels of the AR-V7 Splice Variant and Co-Amplification of the Golgi Protein Coding YIPF6 in AR Amplified Prostate Cancer Bone Metastases

High modal number and triple trisomies are highly correlated favorable factors in childhood B-cell precursor high hyperdiploid acute lymphoblastic leukemia treated according to the NOPHO ALL 1992/2000 protocols

Human ameloblastin gene: genomic organization and mutation analysis in amelogenesis imperfecta patients

Improved outcome in adult acute myeloid leukemia is almost entirely restricted to young patients and associated with stem cell transplantation

Increased copy number at 3p14 in breast cancer

Induction chemotherapy and post-remission imatinib therapy for de NovoBCR-ABL-positive AML

Interferon-alpha and p53 alleles involved in nasopharyngeal carcinoma

LRIG1 expression in colorectal cancer

Loss of chromosomes is the primary event in near-haploid and low-hypodiploid acute lymphoblastic leukemia

Microbiology of folliculitis: a histological study of 39 cases

Molecular and clinical characterization of patients with overlapping 10p deletions

Mutation analysis and copy number alterations of KIF23 in non-small-cell lung cancer exhibiting KIF23 over-expression

Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden

Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families

Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families

Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern Sweden

Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED).

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in causing severe retinitis pigmentosa

Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family

Novel variants of human IFN-alpha detected in tumor cell lines and biopsy specimens.

Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation

Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene

Outcome of ETV6/RUNX1-positive childhood acute lymphoblastic leukaemia in the NOPHO-ALL-1992 protocol: frequent late relapses but good overall survival

PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.

Paediatric B-cell precursor acute lymphoblastic leukaemia with t(1;19)(q23;p13): clinical and cytogenetic characteristics of 47 cases from the Nordic countries treated according to NOPHO protocols

Pattern of tissue invasion by Propionibacterium acnes in acne vulgaris

Prognostic significance of risk group stratification in elderly patients with acute myeloid leukaemia

Reduction in WT1 Gene Expression During Early Treatment Predicts the Outcome in Patients With Acute Myeloid Leukemia

Retinal function in Bothnia dystrophy. An electrophysiological study

Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies NovelLCA5Mutations and New Genotype-Phenotype Correlations

Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations

Simultaneous visualization of Propionibacterium acnes and Propionibacterium granulosum with immunofluorescence and fluorescence in situ hybridization

Spatial distribution of bacterial–fungal communities in facial skin

Spontaneously immortalized human T lymphocytes develop gain of chromosomal region 2p13-24 as an early and common genetic event.

The Genetic Architecture of Gliomagenesis-Genetic Risk Variants Linked to Specific Molecular Subtypes

The clinical impact of IKZF1 deletions in paediatric B-cell precursor acute lymphoblastic leukaemia is independent of minimal residual disease stratification in Nordic Society for Paediatric Haematology and Oncology treatment protocols used between 1

The frequency and prognostic impact of dic(9;20)(p13.2;q11.2) in childhood B-cell precursor acute lymphoblastic leukemia: results from the NOPHO ALL-2000 trial

Tinted contact lenses in Bothnia dystrophy

Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome.

Vascular density in childhood acute lymphoblastic leukaemia correlates to biological factors and outcome

hTERT gene copy number is not associated with hTERT RNA expression or telomerase activity in colorectal cancer