about
Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 geneDisease-causing mutations in the cellular retinaldehyde binding protein tighten and abolish ligand interactionsRetinal function in Bothnia dystrophy. An electrophysiological study.Characterization and tissue-specific expression of human LRIG2.Cloning, characterization, and expression of human LIG1.Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern Sweden.Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlationsHigh 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.Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.Spontaneously immortalized human T lymphocytes develop gain of chromosomal region 2p13-24 as an early and common genetic event.Novel variants of human IFN-alpha detected in tumor cell lines and biopsy specimens.PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.Microbiology of folliculitis: a histological study of 39 cases.Mutation analysis and copy number alterations of KIF23 in non-small-cell lung cancer exhibiting KIF23 over-expression.Central retinal findings in Bothnia dystrophy caused by RLBP1 sequence variation.Improved outcome in adult acute myeloid leukemia is almost entirely restricted to young patients and associated with stem cell transplantation.Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation.Emergence of Philadelphia positive chronic myeloid leukaemia during treatment with hydroxyurea for Philadelphia negative essential thrombocythaemia.Correction: Increased copy number at 3p14 in breast cancer.Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23.Loss of chromosomes is the primary event in near-haploid and low-hypodiploid acute lymphoblastic leukemia.Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED).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.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.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.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.Molecular and clinical characterization of patients with overlapping 10p deletionsCo-existence of pseudo-Chediak-Higashi anomaly and double minutes containing C-MYC oncogene in three patients with AML M2Prognostic significance of risk group stratification in elderly patients with acute myeloid leukaemiaATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicingGenetic Heterogeneity and Clinical Outcome in a Swedish Family with Retinal Degeneration Caused by Mutations in CRB1 and ABCA4 GenesSimultaneous visualization of Propionibacterium acnes and Propionibacterium granulosum with immunofluorescence and fluorescence in situ hybridizationSpatial distribution of bacterial–fungal communities in facial skinReduction in WT1 Gene Expression During Early Treatment Predicts the Outcome in Patients With Acute Myeloid LeukemiaAdditional 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 protocolAn increased incidence of Propionibacterium acnes biofilms in acne vulgaris: a case-control studyPattern of tissue invasion by Propionibacterium acnes in acne vulgarisVascular density in childhood acute lymphoblastic leukaemia correlates to biological factors and outcomeInduction chemotherapy and post-remission imatinib therapy for de NovoBCR-ABL-positive AML
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P50
description
hulumtuese
@sq
researcher
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wetenschapper
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հետազոտող
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name
Irina Golovleva
@ast
Irina Golovleva
@de
Irina Golovleva
@en
Irina Golovleva
@es
Irina Golovleva
@fr
Irina Golovleva
@nl
Irina Golovleva
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type
label
Irina Golovleva
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Irina Golovleva
@de
Irina Golovleva
@en
Irina Golovleva
@es
Irina Golovleva
@fr
Irina Golovleva
@nl
Irina Golovleva
@sl
prefLabel
Irina Golovleva
@ast
Irina Golovleva
@de
Irina Golovleva
@en
Irina Golovleva
@es
Irina Golovleva
@fr
Irina Golovleva
@nl
Irina Golovleva
@sl
P106
P21
P31
P496
0000-0001-8741-0616