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    Wyświetlanie 1-14 z 14
    Tytuł:
    Secondary hemophagocytic lymphohystiocytosis in a Rubinstein Taybi syndrome patient.
    Autorzy:
    Saettini F; Pediatric Hematology Department, Fondazione MBBM, Universita degli Studi di Milano-Bicocca Dipartimento di Medicina e Chirurgia, Monza, Italy.
    Radaelli S; Pediatric Hematology Department, Fondazione MBBM, Universita degli Studi di Milano-Bicocca Dipartimento di Medicina e Chirurgia, Monza, Italy.
    Ocello L; Pediatric Hematology Department, Fondazione MBBM, Universita degli Studi di Milano-Bicocca Dipartimento di Medicina e Chirurgia, Monza, Italy.
    Ferrari GM; Pediatric Hematology Department, Fondazione MBBM, Universita degli Studi di Milano-Bicocca Dipartimento di Medicina e Chirurgia, Monza, Italy.
    Corti P; Pediatric Hematology Department, Fondazione MBBM, Universita degli Studi di Milano-Bicocca Dipartimento di Medicina e Chirurgia, Monza, Italy.
    Dell'Acqua F; Pediatric Hematology Department, Fondazione MBBM, Universita degli Studi di Milano-Bicocca Dipartimento di Medicina e Chirurgia, Monza, Italy.
    Ippolito D; Department of Diagnostic Radiology, Ospedale San Gerardo, Monza, Italy.
    Foresti S; Infectious Diseases Unit, Ospedale San Gerardo, Monza, Italy.
    Gervasini C; Department of Medical Genetics, Universita degli Studi di Milano, Milano, Italy.
    Badolato R; Department of Clinical and Experimental Sciences, Brescia University, Brescia, Italy.
    Biondi A; Pediatric Hematology Department, Fondazione MBBM, Universita degli Studi di Milano-Bicocca Dipartimento di Medicina e Chirurgia, Monza, Italy.
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    Źródło:
    Pediatric hematology and oncology [Pediatr Hematol Oncol] 2022 Feb; Vol. 39 (1), pp. 74-79. Date of Electronic Publication: 2021 May 21.
    Typ publikacji:
    Case Reports; Journal Article
    MeSH Terms:
    Rubinstein-Taybi Syndrome*/complications
    Lymphohistiocytosis, Hemophagocytic/*etiology
    Herpesviridae Infections ; Humans
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein-Taybi Syndrome.
    Autorzy:
    Di Fede E; Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.
    Ottaviano E; Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.
    Grazioli P; Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.
    Ceccarani C; Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.; Institute of Biomedical Technologies, Italian National Research Council, Segrate, 20054 Milan, Italy.
    Galeone A; Department of Biosciences, Università degli Studi di Milano, 20133 Milano, Italy.
    Parodi C; Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.
    Colombo EA; Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.
    Bassanini G; Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.
    Fazio G; Tettamanti Research Center, Department of Pediatrics, Università degli Studi di Milano-Bicocca, MBBM Foundation/San Gerardo Hospital, 20900 Monza, Italy.
    Severgnini M; Institute of Biomedical Technologies, Italian National Research Council, Segrate, 20054 Milan, Italy.
    Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
    Verduci E; Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.; Department of Pediatrics, Vittore Buzzi Children's Hospital, University of Milan, 20154 Milan, Italy.
    Vaccari T; Department of Biosciences, Università degli Studi di Milano, 20133 Milano, Italy.
    Massa V; Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.; 'Aldo Ravelli' Center for Neurotechnology and Experimental Brain Therapeutics, Università degli Studi di Milano, 20142 Milan, Italy.
    Borghi E; Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.
    Gervasini C; Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.; 'Aldo Ravelli' Center for Neurotechnology and Experimental Brain Therapeutics, Università degli Studi di Milano, 20142 Milan, Italy.
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    Źródło:
    International journal of molecular sciences [Int J Mol Sci] 2021 Mar 31; Vol. 22 (7). Date of Electronic Publication: 2021 Mar 31.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Butyrates/*metabolism
    Rubinstein-Taybi Syndrome/*metabolism
    Rubinstein-Taybi Syndrome/*microbiology
    Acetylation ; Adolescent ; Animals ; Butyrates/pharmacology ; CREB-Binding Protein/metabolism ; Child ; Child, Preschool ; Cohort Studies ; Disease Models, Animal ; Drosophila melanogaster/metabolism ; E1A-Associated p300 Protein/metabolism ; Fatty Acids, Volatile/metabolism ; Fatty Acids, Volatile/physiology ; Female ; Gastrointestinal Microbiome/physiology ; Histone Acetyltransferases/metabolism ; Histone Deacetylase Inhibitors/pharmacology ; Humans ; Male ; Mutation ; Protein Processing, Post-Translational ; p300-CBP Transcription Factors/metabolism
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.
    Autorzy:
    Milani D; Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milano, Italy. .
    Manzoni FM; Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milano, Italy. .
    Pezzani L; Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milano, Italy. .
    Ajmone P; UO Neuropsichiatria dell'Infanzia e dell'Adolescenza, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy. .
    Gervasini C; Department of Health Science, Medical Genetics, Università degli Studi di Milano, Milano, Italy. cristina.gervasini@unimi.it.
    Menni F; Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milano, Italy. .
    Esposito S; Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milano, Italy. .
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    Źródło:
    Italian journal of pediatrics [Ital J Pediatr] 2015 Jan 20; Vol. 41, pp. 4. Date of Electronic Publication: 2015 Jan 20.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't; Review
    MeSH Terms:
    Rubinstein-Taybi Syndrome/*diagnosis
    CREB-Binding Protein/genetics ; Child ; E1A-Associated p300 Protein/genetics ; Genetic Association Studies ; Humans ; Rubinstein-Taybi Syndrome/genetics ; Rubinstein-Taybi Syndrome/therapy
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis.
    Autorzy:
    Gervasini C; Division of Medical Genetics, San Paolo School of Medicine, University of Milan, Milan, Italy.
    Mottadelli F
    Ciccone R
    Castronovo P
    Milani D
    Scarano G
    Bedeschi MF
    Belli S
    Pilotta A
    Selicorni A
    Zuffardi O
    Larizza L
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    Źródło:
    European journal of human genetics : EJHG [Eur J Hum Genet] 2010 Jul; Vol. 18 (7), pp. 768-75. Date of Electronic Publication: 2010 Feb 03.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    CREB-Binding Protein/*genetics
    Gene Dosage/*genetics
    Rubinstein-Taybi Syndrome/*genetics
    Adolescent ; Adult ; Allelic Imbalance/genetics ; Child ; Child, Preschool ; Chromosome Mapping ; Comparative Genomic Hybridization ; DNA Mutational Analysis ; Facies ; Female ; Foot Deformities, Congenital/complications ; Foot Deformities, Congenital/genetics ; Genome, Human/genetics ; Hand Deformities, Congenital/complications ; Hand Deformities, Congenital/genetics ; Humans ; Infant ; Infant, Newborn ; Inheritance Patterns/genetics ; Male ; Rubinstein-Taybi Syndrome/complications ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
    Autorzy:
    Bentivegna A; Division of Medical Genetics, San Paolo School of Medicine, University of Milan, Italy. />Milani D
    Gervasini C
    Castronovo P
    Mottadelli F
    Manzini S
    Colapietro P
    Giordano L
    Atzeri F
    Divizia MT
    Uzielli ML
    Neri G
    Bedeschi MF
    Faravelli F
    Selicorni A
    Larizza L
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    Źródło:
    BMC medical genetics [BMC Med Genet] 2006 Oct 19; Vol. 7, pp. 77. Date of Electronic Publication: 2006 Oct 19.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mutation*
    CREB-Binding Protein/*genetics
    Rubinstein-Taybi Syndrome/*genetics
    Adolescent ; Adult ; Amino Acid Sequence ; CREB-Binding Protein/chemistry ; Child ; Child, Preschool ; DNA Mutational Analysis ; Female ; Humans ; Italy ; Male ; Molecular Sequence Data ; Nuclear Localization Signals ; Pedigree ; Point Mutation ; Rubinstein-Taybi Syndrome/diagnosis ; Sequence Alignment ; Sequence Deletion
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-14 z 14

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