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    • Daniela Toniolo
    • Daniela Toniolo: Influence Statistics

      Daniela Toniolo

      Daniela Toniolo

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      Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan, Italy. | Division of Genetics and Cell Biology, San Raffaele Research Institute and Vita ...

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      Daniela Toniolo:Expert Impact

      Concepts for whichDaniela Toniolohas direct influence:Premature ovarian failure,Cpg islands,Serum hepcidin,Muscular dystrophy,Critical region,Barth syndrome,Platelet count,Association analysis.

      Daniela Toniolo:KOL impact

      Concepts related to the work of other authors for whichfor which Daniela Toniolo has influence:Barth syndrome,Gene expression,Blood pressure,Nuclear envelope,Muscular dystrophy,Dna methylation,Mental retardation.

      KOL Resume for Daniela Toniolo

      Year
      2021

      Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan, Italy.

      2019

      Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Via Olgettina 58, 20132 Milano, Italy

      2018

      Divisione di Genetica e Biologia Cellulare, Istituto Scientifico San Raffaele, Milano, Italy;, View further author information

      2017

      Genetics of Common Disorders Unit, IRCCS San Raffaele Scientific Institute and Vita-Salute San Raffaele University, Milan, Italy

      2016

      Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milano, Italy.

      San Raffaele Research Institute, Milano, 20132 Italy;

      Institute of Molecular Genetics-CNR, Via Abbiategrasso 207, Pavia 27100, Italy

      2015

      Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Via Olgettina 58, Milano, 20132, Italy.

      Department of Psychiatry, Trinity Centre for Health Sciences, St James Hospital, James's Street, Dublin 8, Ireland

      Institute of Molecular Genetics, National Research Council (CNR), Pavia, Italy

      2014

      Institute of Molecular Genetics-CNR, Pavia, Italy

      2013

      CNR Institute of Molecular Genetics, Pavia, Italy;

      Division of Genetics and Cell Biology, San Raffaele Research Institute and Vita Salute University, Milano, Italy

      2012

      Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan, Italy and Institute of Molecular Genetics-CNR, Pavia, Italy

      Milano

      2011

      Institute of Molecular Genetics, National Research Council of Italy, Pavia

      Unit of Genetics of Common Disorder, Division of Genetics and Cell Biology, Istituto Scientifico San Raffaele, Milan, Italy; and

      2010

      Institute of Molecular Genetics-CNR, 20182 Pavia, Italy

      2009

      Department of Biotechnological Research (DIBIT), San Raffaele Scientific Institute, Milano, Italy

      2008

      Dipartimento di Ricerca Biotecnologica (DIBIT), IRCCS San Raffaele, Milano, Italy

      DIBIT-San Raffaele Scientific Institute

      2007

      From the Laboratory of Clinical Molecular Biology (S.B., I. Menditto, P.C., M.F.), Diagnostica e Ricerca San Raffaele, Milan; Biocrystallography Unit (M.D.), Department of Medicine (R.C.), and Neuropathology Unit and Department of Neurology and INSPE (R.F., G.C., A.Q., S.C.P.), San Raffaele Scientific Institute, Milan; Department of Neurosciences, Psychiatry and Anesthesiology (C.R., A.T.), AOU “G. Martino,” Messina; Neuromuscular Unit (L. Merlini), Department of Medical Genetics, University of Ferrara; Unit of Molecular Medicine (A.D., E.B.), Ospedale Bambino Gesù Research Hospital, Rome; P. Peirolo Centre for Neuromuscular Diseases (L.P.), Department of Neuroscience, University of Torino; Department of Child Neurology and Psychiatry (A.B.), IRCCS “C. Mondino” Foundation, Pavia; Departments of Neurosciences (E.P.) and Neurological and Psychiatric Sciences (C.P.T.), University of Padova; Division of Neuromuscular Diseases (L. Morandi, I. Moroni), Istituto Nazionale Neurologico C. Besta, Bicocca Laboratories, Milan; Laboratory of Molecular Genetics (G.G.), UILDM-Sez. Laziale, Rome, Italy; Institute of Neuropathology (M.O.), IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Inserm, U582 (G.B.), Institut de Myologie; Université Pierre et Marie Curie-Paris 6, UMR S582 (G.B.), IFR14; and AP-HP, Groupe Hospitalier Pitié-Salpêtrière (G.B.), UF Cardiogenetic and Myogenetics, Paris, France; Medical Genetics (F.M.), University of Siena, Policlinico “S. Maria alle Scotte,” Siena; Ambulatorio Genetica Medica (I. Mammì), USSL 13, Ospedale di Dolo, Venezia; Unit for Genomics for Human Disease Diagnosis (P.C., M.F.), San Raffaele Scientific Institute, Milan; Dibit-San Raffaele Scientific Institute (D.T.), Milan; and Università Vita-Salute San Raffaele (G.C., S.C.P.), Milan, Italy.

      DIBIT, San Raffaele Scientific Institute, Via Olgettina 58, 20132, Milan, Italy

      2006

      DIBIT, San Raffaele Scientific Institute, Via Olgettina 58, 20132 Milano, Italy

      2005

      Institute of Molecular Genetics-CNR, Via Abbiategrasso 207, Pavia, Italy

      2004

      Dibit-San Raffaele Scientific Institute, Milano, Italy

      2003

      Institute of Genetics, Biochemistry and Evolution-CNR, Pavia, Italy

      2002

      DIBIT–HSR, Milan, Italy

      2001

      Institute of Genetics, Biochemistry and Evolution, CNR, Via Abbiategrasso 207, 27100 Pavia, Italy

      2000

      Institute of Genetics, Biochemistry and Evolution, Consiglio Nazionale delle Recherche, Via Abbiategrasso 207, 27100 Pavia, Italy

      1999

      Consiglio Nazionale delle Richerche Institute of Genetics, Biochemistry and Evolution, Pavia, Italy

      1998

      Instituto di Genetica Biochimica ed Evoluzionistica, Via Abbiategrasso 207, 27100 Pavia, Italy

      Dipartimento di Biotecnologie, Milan

      1997

      Institute of Genetics Biochemistry and Evolution, CNR, 27100, Pavia, Italy

      1996

      Istituto di Genetica Biochimica ed Evoluzionistica, CNR, Pavia, Italy

      DIBIT‐HSR, Milan

      Institute of Genetics, Biochemistry and Evolution, Pavia

      1995

      Consiglio Nazionale delle Ricerche, Istituto di Genetica Biochimica ed Evoluzionistica, Via Abbiategrasso 207, 27100, Pavia, Italy

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      Sample of concepts for which Daniela Toniolo is among the top experts in the world.
      Concept World rank
      lamin defects lmna #1
      fine mapping chromosomespecific #1
      nigerian chromosome #1
      val borbera #1
      cytoplasm muscle fibres #1
      general strategy ambiguities #1
      xedmd gene #1
      85–95 years women #1
      genetic pof #1
      gdx dxs253e #1
      mild muscle disorder #1
      250 kb #1
      g45 gene bths #1
      rflp british #1
      g6pd deduced #1
      demethylation specific regions #1
      g6pd human #1
      4generation sardinian #1
      enzymes dinucleoside #1
      probes cpg #1
      extent deletions comparison #1
      sardinia g6pd variants #1
      human inha gene #1
      xlinked pof presence #1
      dominant lmna mutations #1
      emerin lymphoblastoid #1
      northern italy genealogy #1
      structural gene g6pd #1
      gdx aging blotting #1
      16 obligate carriers #1
      32ppgd3 #1
      g6pd modena seattle #1
      dxs253e lambda g28 #1
      islands xq24 #1
      young individuals pacemaker #1
      69 mrx loci #1
      region g6pd #1
      poi pathogenesis poi #1
      inha promoter variants #1
      incorrect localization lack #1
      human g6pd level #1
      mental impairment development #1
      257 restriction fragments #1
      mutation lmna gene #1
      localisation pof1b #1
      lambda g28 #1
      artificial thymopoietins #1
      ubiquitous protein emerin #1
      entire genealogies #1
      Sign-in to see all concepts, it's free!

      Prominent publications by Daniela Toniolo

      KOL-Index: 15204

      Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of the elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and life-threatening cardiomyopathy with conduction blocks. We recently identified LMNA encoding two nuclear envelope proteins, lamins A and C, to be implicated in the autosomal dominant form of EDMD. Here, we report on the variability of the phenotype and spectrum of LMNA mutations in 53 autosomal dominant EDMD patients (36 ...

      Known for Lmna Mutations | Autosomal Dominant | Muscular Dystrophy | Cardiac Involvement | Muscle Weakness
      KOL-Index: 12532

      Monoclonal B-cell lymphocytosis (MBL) is classified as chronic lymphocytic leukemia (CLL)-like, atypical CLL, and CD5(-) MBL. The number of B cells per microliter divides CLL-like MBL into MBL associated with lymphocytosis (usually detected in a clinical setting) and low-count MBL detected in the general population (usually identified during population screening). After a median follow-up of 34 months we reevaluated 76 low-count MBLs with 5-color flow cytometry: 90% of CLL-like MBL but ...

      Known for Cll Mbl | Fluorescence Leukemia | Situ Hybridization | Human Pair | Cell Count
      KOL-Index: 12125

      Objective: To assess the frequency of variants, including biallelic pathogenic variants, in minichromosome maintenance 8 (MCM8) and minichromosome maintenance 9 (MCM9), other genes related to MCM8-MCM9, and DNA damage repair (DDR) pathway in participants with primary ovarian insufficiency (POI).

      Design: MCM8, MCM9, and genes encoding DDR proteins that have been implicated in reproductive aging were sequenced among POI participants.

      Setting: Academic research institution.

      Participants: ...

      Known for Primary Ovarian Insufficiency | Minichromosome Maintenance | Mcm9 Genes | Reproductive Aging | Variants Mcm8
      KOL-Index: 11972

      Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and a cardiomyopathy with conduction blocks which is life-threatening1. Two modes of inheritance exist, X-linked (OMIM 310300) and autosomal dominant (EDMD-AD; OMIM 181350). EDMD-AD is clinically identical to the X-linked forms of the disease2,3,4. Mutations in EMD, the gene encoding emerin, are responsible for the X-linked ...

      Known for Autosomal Dominant | Gene Encoding | Dreifuss Muscular | Mutations Emd | Sequence Homology
      KOL-Index: 11210

      In the revised National Cancer Institute Working Group (NCI-WG)/International Workshop on Chronic Lymphocytic Leukemia (IWCLL) guidelines for CLL, CLL-like monoclonal B lymphocytosis (MBL) is defined as the presence of less than 5 x 10(9)/L B lymphocytes in the peripheral blood. However, the concentration of MBL in the blood is extremely variable. MBL in subjects with lymphocytosis require treatment at a rate of 1.1% per year and present immunoglobulin (IG) gene features and similar to ...

      Known for Cll Mbl | Lymphocytic Leukemia | Clinical Monitoring | Gene Repertoire | Count Lymphocytosis
      KOL-Index: 10905

      Rab proteins are small GTPases involved in intracellular trafficking. Among the 60 different Rab proteins described in mammals, Rab3a is the most abundant in brain, where it is involved in synaptic vesicle fusion and neurotransmitter release. Rab3a constitutive knockout mice (Rab3a(-/-)) are characterized by deficient short- and long-term synaptic plasticity in the mossy fiber pathway and altered circadian motor activity, while no effects on spatial learning have been reported so far for ...

      Known for Rab3a Mice | Reversal Learning | Animal Conditioning | Synaptic Vesicle | Spatial Memory
      KOL-Index: 10507

      BACKGROUND: Hepcidin is the main regulator of iron homeostasis: inappropriate production of hepcidin results in iron overload or iron deficiency and anaemia.

      AIMS: To study variation of serum hepcidin concentration in a normal population.

      RESULTS: Hepcidin showed age and sex dependent variations that correlated with ferritin but not with serum iron and transferrin saturation. The size of the study population was underpowered to find genome wide significant associations with hepcidin ...

      Known for Serum Hepcidin | Iron Parameters | Transferrin Saturation | Tmprss6 Genetic | Association Hfe
      KOL-Index: 10444

      Human Mental Retardation (MR) is a common and highly heterogeneous pediatric disorder affecting around 3% of the general population; at least 215 X-linked MR (XLMR) conditions have been described, and mutations have been identified in 83 different genes, encoding proteins with a variety of function, such as chromatin remodeling, synaptic function, and intracellular trafficking. The small GTPases of the RAB family, which play an essential role in intracellular vesicular trafficking, have ...

      Known for Linked Mental | Small Gtpase | Gene Rab39b | Intracellular Trafficking | Synaptic Function
      KOL-Index: 10404

      Heterozygous mutations in the X-linked MECP2 gene cause Rett syndrome, a severe neurodevelopmental disorder of young females. Only one male presenting an MECP2 mutation has been reported; he survived only to age 1 year, suggesting that mutations in MECP2 are male lethal. Here we report a three-generation family in which two affected males showed severe mental retardation and progressive spasticity, previously mapped in Xq27.2-qter. Two obligate carrier females showed either normal or ...

      Known for Rett Syndrome | Linked Mental | Males Mecp2 | Progressive Spasticity | Preschool Chromosomal Proteins
      KOL-Index: 9900

      BACKGROUND AND PURPOSE: Emery-Dreifuss muscular dystrophy (EDMD) is a rare inherited disorder associated with cardiac involvement. We investigated the spectrum and relevance of the cardiac manifestations of EDMD, focusing on bradyarrhythmias and tachyarrhythmias (including atrial fibrillation/flutter), embolic stroke, and heart failure.

      METHODS AND RESULTS: Eighteen patients (age 42.8+/-19.6 years) with genetically confirmed X-linked (n=10, including 3 carriers) or autosomal dominant ...

      Known for Heart Failure | Atrial Fibrillation | Muscular Dystrophy | Pacemaker Implant | Cardiac Involvement
      KOL-Index: 9886

      Emery-Dreifuss muscular dystrophy (EMD) is a condition characterized by the clinical triad of early-onset contractures, progressive weakness in humeroperoneal muscles, and cardiomyopathy with conduction block. The disease was described for the first time as an X-linked muscular dystrophy, but autosomal dominant and autosomal recessive forms were reported. The genes for X-linked EMD and autosomal dominant EMD (AD-EMD) were identified. We report here that heterozygote mutations in LMNA, ...

      Known for Lmna Gene | Autosomal Dominant | Dreifuss Muscular | Recessive Emery | Progressive Weakness
      KOL-Index: 9784

      Barth syndrome (BTHS) is a rare X-linked recessive disorder characterized by cardiac and skeletal myopathy, neutropenia, and short stature. A gene for BTHS, G4.5, was recently cloned and encodes several novel proteins, named "tafazzins." Unique mutations have been found. No correlation between the location or type of mutation and the phenotype of BTHS has been found. Female carriers of BTHS seem to be healthy. This could be due to a selection against cells that have the mutant allele on ...

      Known for Chromosome Inactivation | Barth Syndrome | Skewed Pattern | Female Carriers | Phenotype Bths
      KOL-Index: 9567

      Vascular endothelial growth factor (VEGF) is an angiogenic and neurotrophic factor, secreted by endothelial cells, known to impact various physiological and disease processes from cancer to cardiovascular disease and to be pharmacologically modifiable. We sought to identify novel loci associated with circulating VEGF levels through a genome-wide association meta-analysis combining data from European-ancestry individuals and using a dense variant map from 1000 genomes imputation panel. ...

      Known for Vegf Levels | Genome Wide | Endothelial Cells | Cardiovascular Disease | European Ancestry

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      Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan, Italy. | Division of Genetics and Cell Biology, San Raffaele Research Institute and Vita Salute University, Milan, Italy. | Division of Genetics and Cell Biology, San Ra

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