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index medicus (7) 7
humans (6) 6
male (4) 4
middle aged (4) 4
muscular dystrophy, facioscapulohumeral - genetics (4) 4
adult (3) 3
aged (3) 3
clinical neurology (3) 3
female (3) 3
fshd (3) 3
genetics (3) 3
genetics & heredity (3) 3
haplotypes (3) 3
muscular dystrophy (3) 3
myopathy (3) 3
phenotype (3) 3
4q35 (2) 2
4q35 deletion (2) 2
adolescent (2) 2
antineoplastic agents - pharmacology (2) 2
article (2) 2
caveolinopathy (2) 2
chromosome 4 (2) 2
chromosomes, human, pair 4 - genetics (2) 2
d4f104s1 (2) 2
d4z4 (2) 2
dna rearrangements (2) 2
doxorubicin - pharmacology (2) 2
expression (2) 2
facioscapulohumeral dystrophy (2) 2
facioscapulohumeral muscular dystrophy (2) 2
haplotypes - genetics (2) 2
heterozygote (2) 2
limb girdle muscular dystrophy type 1c (2) 2
locus (2) 2
molecular diagnosis (2) 2
musculoskeletal diseases (2) 2
mutation (2) 2
neurology (2) 2
neurosciences (2) 2
oncology (2) 2
pedigree (2) 2
rippling muscle disease (2) 2
young adult (2) 2
abnormalities (1) 1
abridged index medicus (1) 1
activation (1) 1
adduct formation (1) 1
age (1) 1
aged, 80 and over (1) 1
algorithms applications; artificial olfaction; drift correction; evolutionary strategies; bioinformatics (1) 1
alleles (1) 1
analysis (1) 1
animal structures (1) 1
animals (1) 1
apoptosis - drug effects (1) 1
arm (1) 1
artificial olfaction (1) 1
atp binding cassette transporter, subfamily b (1) 1
atp binding cassette transporter, subfamily b, member 1 - genetics (1) 1
atp binding cassette transporter, subfamily b, member 1 - metabolism (1) 1
atrophy (1) 1
biology (1) 1
biomarkers (1) 1
biopsy (1) 1
bone neoplasms - drug therapy (1) 1
bone neoplasms - enzymology (1) 1
brazil - epidemiology (1) 1
c-myc (1) 1
cancer (1) 1
caveolin (1) 1
caveolin 3 - genetics (1) 1
caveolin 3 - metabolism (1) 1
caveolin-3 (1) 1
cell biology (1) 1
cell differentiation - physiology (1) 1
cell line, tumor (1) 1
cell-lines (1) 1
cells, cultured (1) 1
channels (1) 1
chemotherapy (1) 1
child (1) 1
chromatin-modifying enzyme (1) 1
chromosome deletion (1) 1
chromosome disorders - genetics (1) 1
chromosome disorders - physiopathology (1) 1
chromosome-4 (1) 1
chromosomes, human, pair 4 (1) 1
cisplatin - pharmacology (1) 1
city planning (1) 1
clinical expression (1) 1
comparative genomic hybridization (1) 1
complex (1) 1
congenital, hereditary, and neonatal diseases and abnormalities (1) 1
d4z4 reduced allele (1) 1
deletions (1) 1
diagnosis (1) 1
differentiation (1) 1
dihydrofolate-reductase gene (1) 1
disease expression (1) 1
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1. Full Text Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling
by Scionti, Isabella and Fabbri, Greta and Fiorillo, Chiara and Ricci, Giulia and Greco, Francesca and D'Amico, Roberto and Termanini, Alberto and Vercelli, Liliana and Tomelleri, Giuliano and Cao, Michelangelo and Santoro, Lucio and Percesepe, Antonio and Tupler, Rossella
Journal of Medical Genetics, ISSN 0022-2593, 03/2012, Volume 49, Issue 3, pp. 171 - 178
BackgroundFacioscapulohumeral muscular dystrophy (FSHD) is considered an autosomal dominant disease with a prevalence of 1 in 20 000. Almost all patients with... 
MOLECULAR DIAGNOSIS | D4Z4 | 4Q35 | GENETICS & HEREDITY | FSHD | PHENOTYPE | DOMINANT | DNA REARRANGEMENTS | LOCUS | DELETIONS | D4F104S1 | Haplotypes | Sequence Deletion | Genetic Association Studies | Gene Frequency | Humans | Middle Aged | Male | Muscular Dystrophy, Facioscapulohumeral - genetics | Tandem Repeat Sequences | Genetic Counseling | Chromosomes, Human, Pair 4 | Young Adult | DNA Mutational Analysis | Pedigree | Adolescent | Aged, 80 and over | Adult | Female | Heterozygote | Aged | Child
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2. Full Text LSD1 Controls Timely MyoD Expression via MyoD Core Enhancer Transcription
by Scionti, Isabella and Hayashi, Shinichiro and Mouradian, Sandrine and Girard, Emmanuelle and Esteves de Lima, Joana and Morel, Véronique and Simonet, Thomas and Wurmser, Maud and Maire, Pascal and Ancelin, Katia and Metzger, Eric and Schüle, Roland and Goillot, Evelyne and Relaix, Frederic and Schaeffer, Laurent
Cell Reports, ISSN 2211-1247, 02/2017, Volume 18, Issue 8, pp. 1996 - 2006
is a master regulator of myogenesis. Chromatin modifications required to trigger expression are still poorly described. Here, we demonstrate that the histone... 
enhancer RNA | MyoD | LSD1 | muscle | chromatin-modifying enzyme | HISTONE DEMETHYLASE | ACTIVATION | COMPLEX | REPRESSION | H3K4 | MYOGENESIS | GENE-EXPRESSION | MUSCLE | DIFFERENTIATION | PROMOTER | CELL BIOLOGY | Muscle Development - physiology | Cells, Cultured | MyoD Protein - metabolism | RNA Polymerase II - metabolism | Regulatory Sequences, Nucleic Acid - physiology | Histone Demethylases - metabolism | Myoblasts - metabolism | Transcription, Genetic - physiology | Animals | Limb Buds - metabolism | Mice | Histones - metabolism | Cell Differentiation - physiology | Gene Expression Regulation, Developmental - physiology | Myoblasts - physiology
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3. Full Text Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular Dystrophy
by Scionti, Isabella and Greco, Francesca and Ricci, Giulia and Ricci, Enzo and Govi, Monica and Arashiro, Patricia and Vercelli, Liliana and Berardinelli, Angela and Angelini, Corrado and Antonini, Giovanni and Cao, Michelangelo and Di Muzio, Antonio and Moggio, Maurizio and Morandi, Lucia and Rodolico, Carmelo and Ruggiero, Lucia and Santoro, Lucio and Siciliano, Gabriele and Tomelleri, Giuliano and Trevisan, Carlo Pietro and Galluzzi, Giuliana and Wright, Woodring and Zatz, Mayana and Tupler, Rossella
The American Journal of Human Genetics, ISSN 0002-9297, 04/2012, Volume 90, Issue 4, pp. 628 - 635
Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary myopathy causally linked to reduced numbers (≤8) of 3.3 kilobase D4Z4 tandem repeats at... 
CHROMOSOME-4 | D4Z4 | GENETICS & HEREDITY | FSHD | PHENOTYPE | FRAGMENT | 4Q35 DELETION | DNA REARRANGEMENTS | LOCUS | D4F104S1 | FAMILY | Genetic Testing | Muscular Dystrophy, Facioscapulohumeral - diagnosis | Humans | Middle Aged | Male | Muscular Dystrophy, Facioscapulohumeral - genetics | Chromosomes, Human, Pair 4 - genetics | Polymorphism, Genetic | Haplotypes - genetics | Adult | Female | Italy - epidemiology | Aged | Tandem Repeat Sequences - genetics | Brazil - epidemiology | Facioscapulohumeral muscular dystrophy | Molecular genetics | Genetic variation | Research | Nucleotide sequencing | Diagnosis | Risk factors | DNA sequencing | Evolutionary biology | Analysis | Muscular dystrophy | Medical genetics | Haplotypes | chromosome 4 | Prenatal diagnosis | DNA | Gene polymorphism | Myopathy
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4. Full Text Overcoming glutathione S-transferase P1-related cisplatin resistance in osteosarcoma
by Pasello, Michela and Michelacci, Francesca and Scionti, Isabella and Hattinger, Claudia Maria and Zuntini, Monia and Caccuri, Anna Maria and Scotlandi, Katia and Picci, Piero and Serra, Massimo
Cancer Research, ISSN 0008-5472, 08/2008, Volume 68, Issue 16, pp. 6661 - 6668
Cisplatin (cis-diamminedichloroplatinum, CDDP) is one of the most used drugs for osteosarcoma chemotherapy. fly using a series of CDDP-resistant variants,... 
OVEREXPRESSION | ADDUCT FORMATION | ONCOLOGY | PLATINUM RESISTANCE | PERSPECTIVES | INHIBITORS | CELL-LINES | ESTABLISHMENT | EXPRESSION | CHEMOTHERAPY | Osteosarcoma - drug therapy | Glutathione S-Transferase pi - metabolism | Bone Neoplasms - enzymology | Osteosarcoma - enzymology | Apoptosis - drug effects | Humans | Glutathione S-Transferase pi - antagonists & inhibitors | Drug Resistance, Neoplasm | Survival Rate | Cisplatin - pharmacology | Drug Interactions | Oxadiazoles - pharmacology | Antineoplastic Agents - pharmacology | Bone Neoplasms - drug therapy | Tumor Cells, Cultured | Doxorubicin - pharmacology | Index Medicus
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5. Full Text Response
by Ricci, Giulia and Scionti, Isabella and Tupler, Rossella and Siciliano, Gabriele
Neuromuscular Disorders, ISSN 0960-8966, 07/2012, Volume 22, Issue 7, pp. 670 - 671
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6. Full Text Response
by Ricci, Giulia and Scionti, Isabella and Tupler, Rossella and Siciliano, Gabriele
Neuromuscular Disorders, ISSN 0960-8966, 07/2012, Volume 22, Issue 7, pp. 670 - 671
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7. Full Text Response
by Ricci, Giulia and Scionti, Isabella and Tupler, Rossella and Siciliano, Gabriele
Neuromuscular Disorders, ISSN 0960-8966, 07/2012, Volume 22, Issue 7, pp. 670 - 671
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8. Full Text Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy
by Ricci, Giulia and Scionti, Isabella and Sera, Francesco and Govi, Monica and D'Amico, Roberto and Frambolli, Ilaria and Mele, Fabiano and Filosto, Massimiliano and Vercelli, Liliana and Ruggiero, Lucia and Berardinelli, Angela and Angelini, Corrado and Antonini, Giovanni and Bucci, Elisabetta and Cao, Michelangelo and Daolio, Jessica and Di Muzio, Antonio and Di Leo, Rita and Galluzzi, Giuliana and Iannaccone, Elisabetta and Maggi, Lorenzo and Maruotti, Valerio and Moggio, Maurizio and Mongini, Tiziana and Morandi, Lucia and Nikolic, Ana and Pastorello, Ebe and Ricci, Enzo and Rodolico, Carmelo and Santoro, Lucio and Servida, Maura and Siciliano, Gabriele and Tomelleri, Giuliano and Tupler, Rossella
Brain, ISSN 0006-8950, 2013, Volume 136, Issue 11, pp. 3408 - 3417
Facioscapulohumeral muscular dystrophy has been genetically linked to reduced numbers (8) of D4Z4 repeats at 4q35 combined with 4A(159/161/168) DUX4... 
Facioscapulohumeral muscular dystrophy | Genotype-phenotype correlations | Penetrance | D4Z4 reduced allele | Disease expression | SCORE | penetrance | 4Q35 | SIZE | FSHD | VALIDATION | MODEL | NEUROSCIENCES | CLINICAL NEUROLOGY | disease expression | facioscapulohumeral muscular dystrophy | MOLECULAR DIAGNOSIS | MUTATION | genotype-phenotype correlations | ONSET | Chromosome Deletion | Muscular Dystrophy, Facioscapulohumeral - physiopathology | Genetic Predisposition to Disease - genetics | Prognosis | Humans | Middle Aged | Genetic Association Studies - methods | Male | Muscular Dystrophy, Facioscapulohumeral - genetics | Chromosomes, Human, Pair 4 - genetics | Homeodomain Proteins - genetics | Young Adult | Haplotypes - genetics | Pedigree | Adolescent | Adult | Female | Registries | Aged | Chromosome Disorders - physiopathology | Chromosome Disorders - genetics | Age | Original | genotype–phenotype correlations
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9. Full Text Response
by Ricci, Giulia and Scionti, Isabella and Tupler, Rossella and Siciliano, Gabriele
Neuromuscular Disorders, ISSN 0960-8966, 2012, Volume 22, Issue 7, pp. 670 - 671
Neurology
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10. Full Text Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes
by Ricci, Giulia and Scionti, Isabella and Alì, Greta and Volpi, Leda and Zampa, Virna and Fanin, Marina and Angelini, Corrado and Politano, Luisa and Tupler, Rossella and Siciliano, Gabriele
Neuromuscular Disorders, ISSN 0960-8966, 06/2012, Volume 22, Issue 6, pp. 534 - 540
We report the first case of a heterozygous T78M mutation in the caveolin-3 gene (CAV3) associated with rippling muscle disease and proximal myopathy. The... 
Rippling muscle disease | Facioscapulohumeral dystrophy | Caveolinopathy | Limb girdle muscular dystrophy type 1C | LATE SODIUM CURRENT | LOCALIZATION | CLINICAL EXPRESSION | MUSCULAR-DYSTROPHY | 4Q35 DELETION | MYOPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY | IN-VIVO | CAVEOLIN-3 | CHANNELS | Limb girdle muscular dystrophy type IC | MYASTHENIA-GRAVIS | Caveolin 3 - genetics | Muscular Diseases - metabolism | Humans | Middle Aged | Male | Muscle, Skeletal - metabolism | Muscular Diseases - pathology | Muscular Dystrophy, Facioscapulohumeral - genetics | Phenotype | Alleles | Muscular Dystrophy, Facioscapulohumeral - pathology | Heterozygote | Muscle, Skeletal - pathology | Muscular Diseases - genetics | Caveolin 3 - metabolism | Muscular Dystrophy, Facioscapulohumeral - metabolism
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11. Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for adouble troublea overlapping syndromes
by Ricci, Giulia and Scionti, Isabella and AlAn, Greta and Volpi, Leda and Zampa, Virna and Fanin, Marina and Angelini, Corrado and Politano, Luisa and Tupler, Rossella and Siciliano, Gabriele
Neuromuscular Disorders, ISSN 0960-8966, 06/2012, Volume 22, Issue 6, pp. 534 - 540
We report the first case of a heterozygous T78M mutation in the caveolin-3 gene (CAV3) associated with rippling muscle disease and proximal myopathy. The... 
Immunohistochemistry | Caveolin | Muscles | Scapula | Gene deletion | Muscular dystrophy | Leg | Atrophy | chromosome 4 | neuromuscular system | Magnetic resonance imaging | Biopsy | Mutation | Arm | Myopathy
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12. Full Text Mechanisms of gene amplification and evidence of coamplification in drug‐resistant human osteosarcoma cell lines
by Hattinger, Claudia M and Stoico, Giuseppina and Michelacci, Francesca and Pasello, Michela and Scionti, Isabella and Remondini, Daniel and Castellani, Gastone C and Fanelli, Marilù and Scotlandi, Katia and Picci, Piero and Serra, Massimo
Genes, Chromosomes and Cancer, ISSN 1045-2257, 04/2009, Volume 48, Issue 4, pp. 289 - 309
Gene amplification and copy number changes play a pivotal role in malignant transformation and progression of human tumor cells by mediating the activation of... 
METHOTREXATE RESISTANCE | DIHYDROFOLATE-REDUCTASE GENE | ONCOLOGY | ABNORMALITIES | GENETICS & HEREDITY | C-MYC | HIGH-GRADE OSTEOSARCOMA | MULTIDRUG-RESISTANCE | EXPRESSION | CANCER | TUMORS | P-GLYCOPROTEIN | Methotrexate - pharmacology | Oligonucleotide Array Sequence Analysis | Genes, Neoplasm | Humans | Gene Expression Regulation, Neoplastic | Genes, myc | Polymerase Chain Reaction | Antineoplastic Agents - pharmacology | Osteosarcoma - metabolism | Reproducibility of Results | Histone-Lysine N-Methyltransferase | In Situ Hybridization, Fluorescence | Gene Dosage | ATP Binding Cassette Transporter, Subfamily B | ATP Binding Cassette Transporter, Subfamily B, Member 1 - genetics | Tetrahydrofolate Dehydrogenase - metabolism | ATP Binding Cassette Transporter, Subfamily B, Member 1 - metabolism | Drug Resistance, Neoplasm - genetics | Gene Amplification | Comparative Genomic Hybridization | Myeloid-Lymphoid Leukemia Protein - genetics | Cell Line, Tumor | Osteosarcoma - genetics | Doxorubicin - pharmacology | Tetrahydrofolate Dehydrogenase - genetics
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13. Full Text Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for “double trouble” overlapping syndromes
by Ricci, Giulia and Scionti, Isabella and Alì, Greta and Volpi, Leda and Zampa, Virna and Fanin, Marina and Angelini, Corrado and Politano, Luisa and Tupler, Rossella and Siciliano, Gabriele
Neuromuscular Disorders, ISSN 0960-8966, 2011, Volume 22, Issue 6, pp. 534 - 540
Abstract We report the first case of a heterozygous T78M mutation in the caveolin-3 gene ( CAV3 ) associated with rippling muscle disease and proximal... 
Neurology | Rippling muscle disease | Facioscapulohumeral dystrophy | Caveolinopathy | Limb girdle muscular dystrophy type 1C
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14. Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular Dystrophy
by Isabella Scionti and Francesca Greco and Giulia Ricci and Monica Govi and Patricia Arashiro and Liliana Vercelli and Angela Berardinelli and Corrado Angelini and Giovanni Antonini and Michelangelo Cao and Antonio Di Muzio and Maurizio Moggio and Lucia Morandi and Enzo Ricci and Carmelo Rodolico and Lucia Ruggiero and Lucio Santoro and Gabriele Siciliano and Giuliano Tomelleri and Carlo Pietro Trevisan and Giuliana Galluzzi and Woodring Wright and Mayana Zatz and Rossella Tupler
American Journal of Human Genetics, ISSN 0002-9297, 04/2012, Volume 90, Issue 4, p. 628
Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary myopathy causally linked to reduced numbers (≤8) of 3.3 kilobase D4Z4 tandem repeats at... 
Haplotypes | Biomarkers | Genetics | Gene expression | Muscular dystrophy | Polymorphism
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15. Taranto
by Porsia, Franco and Scionti, Mauro
1989, 1. ed. --, Grandi opere., ISBN 8842034541, 227
Urbanization | History | Taranto (Italy) History
Book
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16. Full Text Towards drift correction in chemical sensors using an evolutionary strategy
by Di Carlo, Stephano and Sanchez, Ernesto and Scionti, Alberto and Squillero, Giovanni and Tonda, Alberto and Falasconi, Matteo
Proceedings of the 12th annual conference on genetic and evolutionary computation, 07/2010, pp. 1329 - 1330
Gas chemical sensors are strongly affected by the so-called drift , i.e., changes in sensors' response caused by poisoning and aging that may significantly... 
drift correction | evolutionary strategies | artificial olfaction | Artificial olfaction | Drift correction | Evolutionary strategies
Conference Proceeding
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