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Showing 1-20 from 35 results
Title:
Dysfunction in IGF2R Pathway and Associated Perturbations in Autophagy and WNT Processes in Beckwith-Wiedemann Syndrome Cell Lines.
Authors:
Pileggi S; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.
Colombo EA; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.
Ancona S; Pharmacology, Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.
Quadri R; Department of Biosciences, Università degli Studi di Milano, 20133 Milan, Italy.
Bernardelli C; Pharmacology, Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.
Colapietro P; Medical Genetics, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, 20122 Milan, Italy.
Taiana M; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, 20122 Milan, Italy.
Fontana L; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.; Unit of Medical Genetics, ASST Santi Paolo e Carlo, 20142 Milan, Italy.
Miozzo M; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.; Unit of Medical Genetics, ASST Santi Paolo e Carlo, 20142 Milan, Italy.
Lesma E; Pharmacology, Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.
Sirchia SM; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.
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Source:
International journal of molecular sciences [Int J Mol Sci] 2024 Mar 22; Vol. 25 (7). Date of Electronic Publication: 2024 Mar 22.
Publication Type:
Journal Article
MeSH Terms:
Beckwith-Wiedemann Syndrome*/genetics
Neoplasms*
Humans ; Autophagy/genetics ; Cell Line ; Glycogen Synthase Kinase 3
Academic Journal
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Title:
Primary TSC2 Cells Induce Follicular Neogenesis in an Innovative TSC Mouse Model.
Authors:
Bernardelli C; Laboratory of Pharmacology, Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.
Chiaramonte E; Laboratory of Pharmacology, Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.
Ancona S; Laboratory of Pharmacology, Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.
Sirchia SM; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.
Cerri A; Dermatology Unit, Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.
Lesma E; Laboratory of Pharmacology, Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.
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Source:
International journal of molecular sciences [Int J Mol Sci] 2022 Aug 26; Vol. 23 (17). Date of Electronic Publication: 2022 Aug 26.
Publication Type:
Journal Article
MeSH Terms:
Tuberous Sclerosis*/genetics
Animals ; Mice ; Mice, Nude ; TOR Serine-Threonine Kinases ; Tuberous Sclerosis Complex 2 Protein ; Tumor Suppressor Proteins/genetics
Academic Journal
Full Text  Link opens in a new window Full TextDetails
Title:
Correction: Rondinone et al. Extensive Placental Methylation Profiling in Normal Pregnancies. Int. J. Mol. Sci. 2021, 22 , 2136.
Authors:
Rondinone O; Research Laboratories Coordination Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Murgia A; Research Laboratories Coordination Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Costanza J; Research Laboratories Coordination Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Tabano S; Medical Genetics, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, 20122 Milan, Italy.; Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Camanni M; Research Laboratories Coordination Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Corsaro L; Department of Brain and Behavioral Sciences, Università di Pavia, 27100 Pavia, Italy.
Fontana L; Research Laboratories Coordination Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20122 Milano, Italy.
Colapietro P; Medical Genetics, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, 20122 Milan, Italy.
Calzari L; Bioinformatics and Statistical Genomics Unit, Istituto Auxologico Italiano IRCCS, 20095 Cusano Milanino, Italy.
Motta S; Research Laboratories Coordination Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Santaniello C; Research Laboratories Coordination Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Radaelli T; Department of Obstetrics and Gynecology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Ferrazzi E; Department of Obstetrics and Gynecology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; Department of Clinical Sciences and Community Health, University of Milan, 20122 Milan, Italy.
Bosari S; Scientific Direction, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Gentilini D; Department of Brain and Behavioral Sciences, Università di Pavia, 27100 Pavia, Italy.; Bioinformatics and Statistical Genomics Unit, Istituto Auxologico Italiano IRCCS, 20095 Cusano Milanino, Italy.
Sirchia SM; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20122 Milano, Italy.
Miozzo M; Research Laboratories Coordination Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20122 Milano, Italy.
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Source:
International journal of molecular sciences [Int J Mol Sci] 2022 May 10; Vol. 23 (10). Date of Electronic Publication: 2022 May 10.
Publication Type:
Published Erratum
Full Text  Link opens in a new window Full TextDetails
Title:
Cohesin Mutations Induce Chromatin Conformation Perturbation of the H19 / IGF2 Imprinted Region and Gene Expression Dysregulation in Cornelia de Lange Syndrome Cell Lines.
Authors:
Pileggi S; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.
La Vecchia M; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.
Colombo EA; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.
Fontana L; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.; Unit of Medical Genetics, ASST Santi Paolo e Carlo, 20142 Milano, Italy.
Colapietro P; Department of Pathophysiology and Transplantation, Medical Genetics, Università degli Studi di Milano, 20122 Milan, Italy.
Rovina D; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.
Morotti A; Research Laboratories Coordination Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy.
Tabano S; Department of Pathophysiology and Transplantation, Medical Genetics, Università degli Studi di Milano, 20122 Milan, Italy.; Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Porta G; Centro di Medicina Genomica, Department of Medicine and Surgery, Università degli Studi dell'Insubria, 21100 Varese, Italy.
Alcalay M; Department of Experimental Oncology, IEO European Institute of Oncology IRCCS, 20139 Milan, Italy.; Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, Italy.
Gervasini C; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.
Miozzo M; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.; Unit of Medical Genetics, ASST Santi Paolo e Carlo, 20142 Milano, Italy.
Sirchia SM; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.
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Source:
Biomolecules [Biomolecules] 2021 Nov 02; Vol. 11 (11). Date of Electronic Publication: 2021 Nov 02.
Publication Type:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
De Lange Syndrome*
Cell Cycle Proteins ; Cell Line ; Chromatin ; Chromosomal Proteins, Non-Histone ; Insulin-Like Growth Factor II ; Mutation ; Cohesins
Academic Journal
Full Text  Link opens in a new windowDetails
Title:
Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.
Authors:
Fontana L; Department of Health Sciences, Medical Genetics, Università degli Studi di Milano, 20142 Milano, Italy.
Tabano S; Department of Pathophysiology and Transplantation, Medical Genetics, Università degli Studi di Milano, 20122 Milano, Italy.; Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy.
Maitz S; Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, S. Gerardo Hospital, 20900 Monza, Italy.
Colapietro P; Department of Pathophysiology and Transplantation, Medical Genetics, Università degli Studi di Milano, 20122 Milano, Italy.
Garzia E; Istituto di Medicina Aerospaziale 'A. Mosso', Aeronautica Militare, 20138 Milano, Italy.; Reproductive Medicine Unit, ASST Santi Paolo e Carlo, Università degli Studi di Milano, 20142 Milano, Italy.
Gerli AG; Management Engineering Tourbillon Tech SRL, 35100 Padova, Italy.
Sirchia SM; Department of Health Sciences, Medical Genetics, Università degli Studi di Milano, 20142 Milano, Italy.
Miozzo M; Department of Health Sciences, Medical Genetics, Università degli Studi di Milano, 20142 Milano, Italy.; Research Laboratories Coordination Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy.
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Source:
International journal of molecular sciences [Int J Mol Sci] 2021 Mar 26; Vol. 22 (7). Date of Electronic Publication: 2021 Mar 26.
Publication Type:
Journal Article; Review
MeSH Terms:
Genomic Imprinting*
Beckwith-Wiedemann Syndrome/*diagnosis
Beckwith-Wiedemann Syndrome/*genetics
Cluster Analysis ; Cyclin-Dependent Kinase Inhibitor p57/genetics ; DNA Methylation ; Epigenesis, Genetic ; Female ; Gene Silencing ; Genetic Association Studies ; Humans ; Insulin-Like Growth Factor II/genetics ; Male ; Phenotype ; Potassium Channels, Voltage-Gated/genetics ; Prenatal Diagnosis ; Reproductive Techniques, Assisted ; Twins, Monozygotic ; X Chromosome Inactivation
Academic Journal
Full Text  Link opens in a new windowDetails
Showing 1-20 from 35 results

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