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1. Full Text Causative and common PHOX2B variants define a broad phenotypic spectrum
by Bachetti, Tiziana and Ceccherini, Isabella
Clinical genetics, ISSN 0009-9163, 01/2020, Volume 97, Issue 1, pp. 103 - 113
congenital central hypoventilation syndrome | polyalanine expansion | phenotypic spectrum | Hirschsprung disease | neuroblastoma | synonymous mutations | PHOX2B | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Sleep Apnea, Central - epidemiology | Genetic Predisposition to Disease | Hypoventilation - genetics | Humans | Neuroblastoma - genetics | Autonomic Nervous System - pathology | Transcription Factors - genetics | Mutation - genetics | Homeodomain Proteins - genetics | Hypoventilation - epidemiology | Hypoventilation - pathology | Sudden Infant Death - epidemiology | Gene Deletion | Neuroblastoma - epidemiology | Sleep Apnea, Central - genetics | Sudden Infant Death - genetics | Hypoventilation - congenital | Infant, Newborn | Neuroblastoma - pathology | Sleep Apnea, Central - pathology | Deregulation | Infants | Genetic disorders | Gene expression | Patient outcomes | Genes | Frameshift mutation | Neuroblastoma | Homeobox | Hirschsprung's disease | Hypoventilation | Molecular modelling | Polyalanine | Autonomic nervous system | Coding | Mutation | Sudden infant death syndrome--SIDS | Phox2b protein | Index Medicus
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2. Full Text Tumor necrosis factor receptor-associated periodic syndrome as a model linking autophagy and inflammation in protein aggregation diseases
by Bachetti, Tiziana and Ceccherini, Isabella
Journal of molecular medicine (Berlin, Germany), ISSN 0946-2716, 6/2014, Volume 92, Issue 6, pp. 583 - 594
Human Genetics | Biomedicine | TNFRSF1A gene | Protein misfolding and aggregation | TNF receptor-associated periodic syndrome | Internal Medicine | Molecular Medicine | Inflammation | Autophagy | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Humans | Autophagy - physiology | Signal Transduction - genetics | Receptors, Tumor Necrosis Factor, Type I - metabolism | Receptors, Tumor Necrosis Factor, Type I - genetics | Fever | Protein Folding | Hereditary Autoinflammatory Diseases - metabolism | Inflammation - metabolism | Inflammation - genetics | Signal Transduction - physiology | Autophagy - genetics | Hereditary Autoinflammatory Diseases - genetics | Development and progression | Research | Tumor necrosis factor | Patient outcomes | Index Medicus
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3. Full Text An official ATS clinical policy statement: Congenital central hypoventilation syndrome - Genetic basis, diagnosis, and management
by Weese-Mayer, Debra E and Berry-Kravis, Elizabeth M and Ceccherini, Isabella and Keens, Thomas G and Loghmanee, Darius A and Trang, Ha and ATS Congenital Cent Hypoventilatio and ATS Congenital Central Hypoventilation Syndrome Subcommittee
American journal of respiratory and critical care medicine, ISSN 1073-449X, 03/2010, Volume 181, Issue 6, pp. 626 - 644
Respiratory control | Autonomic dysregulation | Respiratory System | Life Sciences & Biomedicine | Critical Care Medicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | Intensive care medicine | Medical sciences | Emergency and intensive care: injuries, diseases due to physical agents. Diving. Drowning. Disaster medicine | Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy | Genetic Predisposition to Disease - genetics | Hypoventilation - diagnosis | Respiration, Artificial - methods | United States | Electrophoresis, Polyacrylamide Gel | Humans | Child, Preschool | Infant | Male | Transcription Factors - genetics | Mutation - genetics | Homeodomain Proteins - genetics | Syndrome | Phenotype | Societies, Medical | Abnormalities, Multiple - therapy | Abnormalities, Multiple - diagnosis | Adult | Female | Hypoventilation - therapy | Child | Abnormalities, Multiple - genetics | Hypoventilation - congenital | Tracheotomy - methods | Index Medicus | Abridged Index Medicus
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4. Full Text Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease
by Tonduti, Davide and Ardissone, Anna and Ceccherini, Isabella and Giaccone, Giorgio and Farina, Laura and Moroni, Isabella
Neurological sciences, ISSN 1590-1874, 6/2016, Volume 37, Issue 6, pp. 973 - 977
Neurology | Medicine & Public Health | Leukodystrophy | Alexander disease | Neurosurgery | Psychiatry | White matter | Neuroradiology | GFAP | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Glial Fibrillary Acidic Protein - genetics | Magnetic Resonance Imaging | Brain - diagnostic imaging | Alexander Disease - diagnostic imaging | Humans | Adolescent | Adult | Family Health | Female | Male | Alexander Disease - genetics | Child | Diagnostic imaging | Intermediate filament proteins | Analysis | Medical genetics | Index Medicus
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5. Full Text A young female with early onset arthritis, uveitis, hepatic, and renal granulomas: a clinical tryst with Blau syndrome over 20 years and case-based review
by Jindal, Ankur Kumar and Pilania, Rakesh Kumar and Suri, Deepti and Gupta, Anju and Gattorno, Marco and Ceccherini, Isabella and Kumar, Nitin and Bansal, Rima and Nada, Ritambhra and Singh, Surjit
Rheumatology international, ISSN 0172-8172, 2019, Volume 41, Issue 1, pp. 173 - 181
NOD2 gene | Liver | Blau syndrome | Uveitis | Arthritis | Granulomas | Adalimumab | Kidney | Life Sciences & Biomedicine | Rheumatology | Science & Technology | Medical genetics | Glutamine | Kidneys | Index Medicus
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6. Full Text ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study
by Caorsi, Roberta and Penco, Federica and Grossi, Alice and Insalaco, Antonella and Omenetti, Alessia and Alessio, Maria and Conti, Giovanni and Marchetti, Federico and Picco, Paolo and Tommasini, Alberto and Martino, Silvana and Malattia, Clara and Gallizi, Romina and Podda, Rosa Anna and Salis, Annalisa and Falcini, Fernanda and Schena, Francesca and Garbarino, Francesca and Morreale, Alessia and Pardeo, Manuela and Ventrici, Claudia and Passarelli, Chiara and Zhou, Qing and Severino, Mariasavina and Gandolfo, Carlo and Damonte, Gianluca and Martini, Alberto and Ravelli, Angelo and Aksentijevich, Ivona and Ceccherini, Isabella and Gattorno, Marco
Annals of the rheumatic diseases, ISSN 0003-4967, 10/2017, Volume 76, Issue 10, pp. 1648 - 1656
Life Sciences & Biomedicine | Rheumatology | Science & Technology | Humans | Immunosuppressive Agents - therapeutic use | Child, Preschool | Infant | Male | Polyarteritis Nodosa - genetics | Case-Control Studies | Stroke - genetics | Young Adult | DNA Mutational Analysis | Immunoglobulins - blood | Female | Polyarteritis Nodosa - enzymology | Intercellular Signaling Peptides and Proteins - deficiency | Livedo Reticularis - genetics | Adenosine Deaminase - deficiency | Child | Polyarteritis Nodosa - drug therapy | Adenosine Deaminase - genetics | Intercellular Signaling Peptides and Proteins - genetics | Livedo Reticularis - enzymology | Stroke - enzymology | Homozygote | Pedigree | Adolescent | Age of Onset | Heterozygote | Italy | Thalidomide - therapeutic use | Livedo Reticularis - drug therapy | Tumor Necrosis Factor-alpha - antagonists & inhibitors | Pediatrics | Stroke | Adenosine | Cytokines | Nervous system | Arthritis | Inflammation | Adenosine deaminase | Peripheral neuropathy | Genetic screening | Monocytes | Enzymatic activity | Tumor necrosis factor | TNF inhibitors | Tumor necrosis factor-TNF | Skin | Mutation | Alzheimers disease | Growth factors | Thalidomide | Genotypes | Tumors | Index Medicus
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7. Full Text Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases
by Rusmini, Marta and Federici, Silvia and Caroli, Francesco and Grossi, Alice and Baldi, Maurizia and Obici, Laura and Insalaco, Antonella and Tommasini, Alberto and Caorsi, Roberta and Gallo, Eleonora and Olivieri, Alma Nunzia and Marzano, AngeloValerio and Coviello, Domenico and Ravazzolo, Roberto and Martini, Alberto and Gattorno, Marco and Ceccherini, Isabella
Annals of the rheumatic diseases, ISSN 0003-4967, 08/2016, Volume 75, Issue 8, pp. 1550 - 1557
Gene Polymorphism | Fever Syndromes | Inflammation | Life Sciences & Biomedicine | Rheumatology | Science & Technology | Computational Biology - methods | Phenotype | Gene Frequency | Humans | Familial Mediterranean Fever - genetics | Genotype | Familial Mediterranean Fever - diagnosis | Hereditary Autoinflammatory Diseases - diagnosis | Mutation | High-Throughput Nucleotide Sequencing - methods | Hereditary Autoinflammatory Diseases - genetics | Usage | Diagnosis | Nucleotide sequencing | DNA sequencing | Index Medicus
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8. Full Text The involvement of the RET variant G691S in medullary thyroid carcinoma enlightened by a meta‐analysis study
by Lantieri, Francesca and Caroli, Francesco and Ceccherini, Isabella and Griseri, Paola
International journal of cancer, ISSN 0020-7136, 06/2013, Volume 132, Issue 12, pp. 2808 - 2819
RET | meta‐analysis | SNP | MTC | association study | meta-analysis | Life Sciences & Biomedicine | Oncology | Science & Technology | Malignant tumors | Thyroid. Thyroid axis (diseases) | Biological and medical sciences | Endocrinopathies | Multiple tumors. Solid tumors. Tumors in childhood (general aspects) | Medical sciences | Tumors | Thyroid Neoplasms - genetics | Carcinoma, Neuroendocrine | Gene Frequency | Humans | Alleles | Computational Biology | Sex Factors | Genotype | Genes, Recessive | Case-Control Studies | Polymorphism, Genetic | Proto-Oncogene Proteins c-ret - genetics | Carcinoma | Analysis | Thyroid diseases | Cancer | Genetics | Thyroid cancer | Meta-analysis | Index Medicus
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