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cell cycle proteins - genetics (6) 6
cerebellum (6) 6
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1. Full Text NT5E Mutations and Arterial Calcifications
by St. Hilaire, Cynthia and Ziegler, Shira G and Markello, Thomas C and Brusco, Alfredo and Groden, Catherine and Gill, Fred and Carlson-Donohoe, Hannah and Lederman, Robert J and Chen, Marcus Y and Yang, Dan and Siegenthaler, Michael P and Arduino, Carlo and Mancini, Cecilia and Freudenthal, Bernard and Stanescu, Horia C and Zdebik, Anselm A and Chaganti, R. Krishna and Nussbaum, Robert L and Kleta, Robert and Gahl, William A and Boehm, Manfred
The New England journal of medicine, ISSN 0028-4793, 02/2011, Volume 364, Issue 5, pp. 432 - 442
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Calcinosis - genetics | 5'-Nucleotidase - genetics | Atherosclerosis - genetics | Humans | Joint Diseases - genetics | Genotype | Lower Extremity - diagnostic imaging | Arteries - pathology | Codon, Nonsense | Mutation, Missense | Chromosomes, Human, Pair 6 | RNA, Messenger - metabolism | Radiography | Intermittent Claudication - genetics | DNA Mutational Analysis | Female | Polymorphism, Single Nucleotide | Mutation | 5'-Nucleotidase - metabolism | Lower Extremity - blood supply | Fibroblasts - metabolism | Studies | Genetics | Genetic testing | Genomics | Deoxyribonucleic acid--DNA | Index Medicus | Abridged Index Medicus
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2. Full Text A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia
by Coutelier, Marie and Blesneac, Iulia and Monteil, Arnaud and Monin, Marie-Lorraine and Ando, Kunie and Mundwiller, Emeline and Brusco, Alfredo and Le Ber, Isabelle and Anheim, Mathieu and Castrioto, Anna and Duyckaerts, Charles and Brice, Alexis and Durr, Alexandra and Lory, Philippe and Stevanin, Giovanni
American journal of human genetics, ISSN 0002-9297, 11/2015, Volume 97, Issue 5, pp. 726 - 737
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Neurons - pathology | Cerebellar Ataxia - metabolism | Calcium - metabolism | Humans | Middle Aged | Electrophysiology | Molecular Sequence Data | Male | Young Adult | Genes, Dominant | HEK293 Cells | Adult | Female | Calcium Channels, T-Type - genetics | Neurons - metabolism | Child | Amino Acid Sequence | Purkinje Cells - metabolism | Cerebellar Ataxia - pathology | Mutation - genetics | Sequence Homology, Amino Acid | Phenotype | Cerebellar Ataxia - genetics | Pedigree | Adolescent | Aged | Purkinje Cells - pathology | Causes of | Calcium channels | Genetic aspects | Gene mutations | Health aspects | Cerebellar ataxia | Ataxia | Genetics | Mutation | Neuropathology | Index Medicus | Life Sciences | Neurons and Cognition | Human genetics | Report
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3. Full Text Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
by Boda, Enrica and Brusco, Alfredo and Plumari, Massimo and Mariotti, Caterina and Taroni, Franco and Plevani, Paolo and Bonn, Florian and Battaglia, Giorgio and Magri, Stefania and Tempia, Filippo and Gellera, Cinzia and Finardi, Adele and Frontali, Marina and Veneziano, Liana and Muzi-Falconi, Marco and Pastore, Annalisa and Fracasso, Valentina and Di Donato, Stefano and Sacco, Tiziana and Lazzaro, Federico and Baratta, Silvia and Brussino, Alessandro and Langer, Thomas and Cagnoli, Claudia and Castellotti, Barbara and Di Bella, Daniela
Nature genetics, ISSN 1061-4036, 04/2010, Volume 42, Issue 4, pp. 313 - 321
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | ATPases Associated with Diverse Cellular Activities | Purkinje Cells - metabolism | Saccharomyces cerevisiae - genetics | Cerebellum - metabolism | Humans | Adenosine Triphosphatases - metabolism | Molecular Sequence Data | Mutation, Missense | Spinocerebellar Degenerations - genetics | Genetic Complementation Test | Electron Transport Complex IV - metabolism | Cell Respiration | Base Sequence | Adenosine Triphosphatases - genetics | ATP-Dependent Proteases | Gene mutations | Proteases | Physiological aspects | Ataxia telangiectasia | Genetic aspects | Research | Health aspects | Risk factors | Proteins | Genotype & phenotype | Ataxia | Mutation | Genes | Index Medicus
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4. Full Text A high‐content drug screening strategy to identify protein level modulators for genetic diseases: A proof‐of‐principle in autosomal dominant leukodystrophy
by Giorgio, Elisa and Pesce, Emanuela and Pozzi, Elisa and Sondo, Elvira and Ferrero, Marta and Morerio, Cristina and Borrelli, Giusy and Della Sala, Edoardo and Lorenzati, Martina and Cortelli, Pietro and Buffo, Annalisa and Pedemonte, Nicoletta and Brusco, Alfredo
Human mutation, ISSN 1059-7794, 01/2021, Volume 42, Issue 1, pp. 102 - 116
alvespimycin | pharmacological screening | rare disease | ADLD | dosage‐sensitive gene | therapy | lamin B1 | LMNB1 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Drugs | Heat shock proteins | Nervous system diseases | Drug approval | Hsp90 protein | Genetic disorders | Neurodegenerative diseases | Leukodystrophy | Clinical trials | Glial cells | Drug screening | Neuromodulation | Biological activity | Pathogenicity | Bioactive compounds | Cell lines | Fibroblasts | Index Medicus
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5. Full Text Challenging arterial calcification disease associated with rare NT5E gene mutation
by Avruscio, Giampiero and Massussi, Mauro and Adamo, Angelo and Brusco, Alfredo
BMJ case reports, ISSN 1757-790X, 6/2020, Volume 13, Issue 6, p. e235365
Intermittent Claudication - genetics | GPI-Linked Proteins - deficiency | Humans | Middle Aged | Vascular Calcification - genetics | Vascular Calcification - diagnostic imaging | Female | 5'-Nucleotidase - deficiency | Mutation | Adenosine | Ultrasonic imaging | Medical imaging | Coronary vessels | Calcification | Diaphragm (Anatomy) | Veins & arteries | Index Medicus
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6. Full Text Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification
by Giorgio, Elisa and Garelli, Emanuela and Carando, Adriana and Bellora, Stefania and Rubino, Elisa and Quarello, Paola and Sirchia, Fabio and Marrama, Federico and Gallone, Salvatore and Grosso, Enrico and Pasini, Barbara and Massa, Roberto and Brussino, Alessandro and Brusco, Alfredo
Journal of human genetics, ISSN 1434-5161, 11/2019, Volume 64, Issue 11, pp. 1083 - 1090
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Calcinosis - genetics | Brain - physiopathology | Humans | Brain Diseases - genetics | Exons - genetics | Male | Brain Diseases - physiopathology | Point Mutation - genetics | Sodium-Phosphate Cotransporter Proteins, Type III - genetics | Pedigree | Polymorphism, Single Nucleotide - genetics | Adult | Calcinosis - physiopathology | Sequence Deletion - genetics | Cerebellum | Pediatrics | Neurosciences | Basal ganglia | Intellectual disabilities | Exons | Genomics | Genes | Identification | Maternal & child health | 3' Untranslated regions | 5' Untranslated Regions | Coding | Calcification | Genetics | Thalamus | Mutation | Growth factors | Index Medicus
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7. Full Text A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2
by Zonta, Andrea and Brussino, Alessandro and Dentelli, Patrizia and Brusco, Alfredo
BMJ case reports, 12/2020, Volume 13, Issue 12
Magnetic Resonance Imaging | Phenotype | Humans | Brain - pathology | Child, Preschool | Female | Spectrin - genetics | Mutation, Missense | Spectrin - metabolism | Intellectual Disability | Spinocerebellar Ataxias - genetics | Genotype & phenotype | Parents & parenting | Congenital diseases | Gait | Intellectual disabilities | Families & family life | Ataxia | Eye movements | Mutation | Chromosomes | Dysarthria | Age | Index Medicus
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8. Full Text Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO)
by Cavalieri, Simona and Pozzi, Elisa and Gatti, Richard A and Brusco, Alfredo
European journal of human genetics : EJHG, ISSN 1018-4813, 07/2013, Volume 21, Issue 7, pp. 774 - 778
ataxia-telangiectasia | deep intronic mutations | ATM | antisense oligonucleotide | next-generation sequencing | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Ataxia Telangiectasia - therapy | Cell Line | Introns - genetics | RNA Splice Sites - genetics | Humans | Morpholinos - administration & dosage | Protein-Serine-Threonine Kinases - genetics | Ataxia Telangiectasia Mutated Proteins | DNA-Binding Proteins - genetics | Mutation - genetics | Ataxia Telangiectasia - pathology | Base Sequence | Tumor Suppressor Proteins - genetics | Cell Cycle Proteins - genetics | Ataxia Telangiectasia - genetics | DNA, Antisense - administration & dosage | High-Throughput Nucleotide Sequencing | Genome, Human | Lymphoblasts | Transcription | Splicing | Nonsense mutation | Oligonucleotides | Antisense oligonucleotides | Stop codon | Genomes | Patients | Muscular dystrophy | Polymerase chain reaction | Proteins | Databases | Cell cycle | Genetics | Ataxia | Mutation | Deoxyribonucleic acid--DNA | DNA sequencing | Apoptosis | Index Medicus
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9. Full Text Spontaneous remission in a Diamond‐Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation
by Garelli, Emanuela and Quarello, Paola and Giorgio, Elisa and Carando, Adriana and Menegatti, Elisa and Mancini, Cecilia and Di Gregorio, Eleonora and Crescenzio, Nicoletta and Palumbo, Orazio and Carella, Massimo and Dimartino, Paola and Pippucci, Tommaso and Dianzani, Irma and Ramenghi, Ugo and Brusco, Alfredo
British journal of haematology, ISSN 0007-1048, 06/2019, Volume 185, Issue 5, pp. 994 - 998
RPS19 | Diamond‐Blackfan | complete remission | uniparental disomy | revertant mosaicism | Diamond-Blackfan | Life Sciences & Biomedicine | Hematology | Science & Technology | Anemia | Genetic aspects | Remission | Uniparental disomy | Mutation | Ablation | Diamonds | Index Medicus
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10. Full Text Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5)
by Innella, Giovanni and Greco, Donatella and Carli, Diana and Magini, Pamela and Giorgio, Elisa and Galesi, Ornella and Ferrero, Giovanni Battista and Romano, Corrado and Brusco, Alfredo and Graziano, Claudio
American journal of medical genetics. Part A, ISSN 1552-4825, 02/2021, Volume 185, Issue 2, pp. 608 - 613
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Index Medicus
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11. Full Text Early-Life Intestine Microbiota and Lung Health in Children
by Ranucci, Giusy and Buccigrossi, Vittoria and Freitas, Maiara Brusco de and Guarino, Alfredo and Giannattasio, Antonietta
Journal of immunology research, ISSN 2314-8861, 11/2017, Volume 2017, pp. 8450496 - 5
Life Sciences & Biomedicine | Immunology | Science & Technology | Pediatrics | Dysbacteriosis | Breastfeeding & lactation | Nutrition | Digestive system | Lung diseases | Health risks | Cystic fibrosis | Infections | Infants | Asthma | Babies | Probiotics | Microbiota | Life span | Antibiotics | Intestine | Bacteria | Children | Intestinal microflora | Digestive tract | Cesarean section | Chronic illnesses | Immune system | Index Medicus | Review
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12. A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
by Giorgio, Elisa and Rubino, Elisa and Bruselles, Alessandro and Pizzi, Simone and Rainero, Innocenzo and Duca, Sergio and Sirchia, Fabio and Pasini, Barbara and Tartaglia, Marco and Brusco, Alfredo
European journal of endocrinology, ISSN 0804-4643, 11/2017, Volume 177, Issue 5, pp. K21 - K27
Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Proteins - genetics | Abnormalities, Multiple - diagnosis | Humans | Alleles | Insulin Resistance - genetics | Adult | Exons - genetics | Female | Genetic Pleiotropy - genetics | Mutation - genetics | Abnormalities, Multiple - genetics | Syndrome | Hypotheses | Alopecia | Transcription | Hirsutism | Dyslipidemia | Frameshift mutation | Insulin resistance | Mutation | Insulin
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13. Full Text A novel case of Greenberg dysplasia and genotype–phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene‐multiple phenotypes
by Giorgio, Elisa and Sirchia, Fabio and Bosco, Martino and Sobreira, Nara Lygia M and Grosso, Enrico and Brussino, Alessandro and Brusco, Alfredo and Baylor Hopkins Ctr Mendelian Genom and Baylor-Hopkins Center for Mendelian Genomics and Baylor‐Hopkins Center for Mendelian Genomics
American journal of medical genetics. Part A, ISSN 1552-4825, 02/2019, Volume 179, Issue 2, pp. 306 - 311
Pelger–Huët | Greenberg syndrome | LBR | fetal malformations | whole exome sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Pelger-Huet Anomaly - physiopathology | Genetic Association Studies | Lamin Type B - genetics | Humans | Receptors, Cytoplasmic and Nuclear - genetics | Fetus - physiopathology | Whole Exome Sequencing | Pregnancy | Homozygote | Osteochondrodysplasias - physiopathology | Phenotype | Osteochondrodysplasias - genetics | Pelger-Huet Anomaly - genetics | Female | Chromatin - genetics | Dysplasia | Chromatin | Analysis | Genes | Genomics | Genetic research | Genetic aspects | Birth defects | Protein binding | Phenotypes | Fetuses | Heredity | Spondylometaphyseal dysplasia | Hereditary diseases | Membrane proteins | Correlation analysis | Bone dysplasia | Skeleton | Leukocytes (granulocytic) | Genotypes | Reductase | Index Medicus | Pelger-Huët
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