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1. Full Text Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
by Ivanovski, I and Djuric, O and Caraffi, S.G and Santodirocco, D and Pollazzon, M and Rosato, S and Cordelli, Duccio M and Abdalla, E and Accorsi, P and Adam, Margaret and Ajmone, P.F and Badura-Stronka, Magdalena and Baldo, C and Baldi, M and Bayat, A and Bigoni, Stefania and Bonvicini, F and Breckpot, J and Callewaert, L and Cocchi, G and Cuturilo, G and De Brasi, D and Devriendt, Koenraad and Dinulos, M.B and Hjortshøj, T.D and Epifanio, R and Faravelli, Francesca and Fiumara, A and Formisano, D and Giordano, L and Grasso, M and Grønborg, Sabine and Iodice, A and Iughetti, L and Kuburovic, V and Kutkowska-Kazmierczak, A and Lacombe, D and Lo Rizzo, C and Luchetti, A and Malbora, B and Mammi, I and Mari, F and Montorsi, G and Moutton, S and Møller, Rikke and Muschke, P and Nielsen, J.E.K and Obersztyn, Ewa and Pantaleoni, C and Pellicciari, A and Pisanti, M.A and Prpic, I and Poch-Olive, M.L and Raviglione, F and Renieri, Alessana and Ricci, E and Rivieri, F and Santen, Gijs and Savasta, S and Scarano, G and Schanze, I and Selicorni, Angelo and Silengo, M.C and Smigiel, Robert and Spaccini, L and Sorge, Giovanni and Szczaluba, K and Tarani, L and Tone, L.G and Toutain, Annick and Trimouille, A and Valera, E.T and Vergano, S.S and Zanotta, N and Zenker, Martin and Conidi, Anea and Zollino, M and Rauch, A and Zweier, Christiane and Garavelli, Livia
Genetics in medicine, ISSN 1098-3600, 09/2018, Volume 20, Issue 9, pp. 965 - 975
Mowat–Wilson syndrome | ZEB2 | management | intellectual disability | Hirschsprung | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Microcephaly - genetics | Humans | Hirschsprung Disease - genetics | Child, Preschool | Genetic Association Studies - methods | Microcephaly - diagnosis | Genotype | Infant | Male | Intellectual Disability - genetics | Hirschsprung Disease - diagnosis | Phenotype | Intellectual Disability - diagnosis | Adolescent | Facies | Zinc Finger E-box Binding Homeobox 2 - genetics | Adult | Female | Mutation | Child | Abnormalities, Multiple - genetics | Genotype & phenotype | Index Medicus
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2. Full Text Advances in Alport syndrome diagnosis using next-generation sequencing
by Artuso, Rosangela and Fallerini, Chiara and Dosa, Laura and Scionti, Francesca and Clementi, Maurizio and Garosi, Guido and Massella, Laura and Epistolato, Maria Carmela and Mancini, Roberta and Mari, Francesca and Longo, Ilaria and Ariani, Francesca and Renieri, Alessandra and Bruttini, Mirella
European journal of human genetics : EJHG, ISSN 1018-4813, 01/2012, Volume 20, Issue 1, pp. 50 - 57
next-generation sequencing | Alport syndrome | DNA sequencing | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Glomerulonephritis | General aspects. Genetic counseling | Nephropathies. Renovascular diseases. Renal failure | Medical genetics | Nephrology. Urinary tract diseases | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Humans | Molecular Sequence Data | Nephritis, Hereditary - genetics | Genotype | Male | DNA Mutational Analysis - methods | Autoantigens - genetics | Genetic Testing - methods | Nephritis, Hereditary - diagnosis | Pilot Projects | Pedigree | Base Sequence | Adolescent | Collagen Type IV - genetics | Adult | Mutation | Genome, Human | Child | Transplants & implants | Nucleotide sequence | Exons | Genes | Genomes | Hearing impairment | Males | Patients | Period protein | Nephropathy | Collagen | Kidney diseases | Diagnosis | Deoxyribonucleic acid--DNA | Index Medicus | Life Sciences | Genetics
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3. Full Text FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome
by Ariani, Francesca and Hayek, Giuseppe and Rondinella, Dalila and Artuso, Rosangela and Mencarelli, Maria Antonietta and Spanhol-Rosseto, Ariele and Pollazzon, Marzia and Buoni, Sabrina and Spiga, Ottavia and Ricciardi, Sara and Meloni, Ilaria and Longo, Ilaria and Mari, Francesca and Broccoli, Vania and Zappella, Michele and Renieri, Alessandra
American journal of human genetics, ISSN 0002-9297, 2008, Volume 83, Issue 1, pp. 89 - 93
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Neurology | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Amino Acid Sequence | Rett Syndrome - diagnosis | Humans | Models, Molecular | Molecular Sequence Data | Repressor Proteins - genetics | Brain - growth & development | Forkhead Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Protein Folding | Brain - metabolism | Nerve Tissue Proteins - chemistry | In Situ Hybridization | Forkhead Transcription Factors - chemistry | Protein Denaturation | Adult | Female | Protein Conformation | Transcription, Genetic | Mutation | Rett Syndrome - genetics | Child | Cohort Studies | Gene mutations | Analysis | Rett syndrome | Telencephalon | Genetic aspects | Genetic transcription | Research | Brain | Molecular biology | Gene expression | Neurons | Neurological disorders | Index Medicus | Report
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4. Full Text "Delirium Day": A nationwide point prevalence study of delirium in older hospitalized patients using an easy standardized diagnostic tool
by Bellelli, Giuseppe and Morandi, Alessandro and Mazzone, Andrea and Cherubini, Antonio and Mossello, Enrico and Bo, Mario and Bianchetti, Angelo and Rozzini, Renzo and Zanetti, Ermellina and Musicco, Massimo and Ferrari, Alberto and Ferrara, Nicola and Trabucchi, Marco and Boffelli, Stefano and Stefano, Fabio Di and Filippi, Francesco De and Guerini, Fabio and Bertoletti, Erik and March, Albert and Margiotta, Alessandro and Mecocci, Patrizia and Addesi, Desireè and Dijik, Babette and Porrino, Paola and Cotroneo, Antonino Maria and Galli, Giovanni and Bernardini, Bruno and Corsini, Carla and Cagnin, Annachiara and Barbagallo, Giuseppe and Lunardelli, Maria Lia and Martini, Emilio and Battaglia, Giuseppe and Latella, Raffaele and Cester, Alberto and Carbone, Pasqualina and Cereda, Diletta and Tremolizzo, Lucio and Bottacchi, Edo and Mariani, Claudio and Rapazzini, Piero and Zuliani, Giovanni and Bianchi, Lara and Muti, Ettore and Bottura, Renato and Sgrò, Giovanni and Mandas, Antonella and Serchisu, Luca and Ungar, Andrea and Villani, Daniele and Raimondi, Clara and Mussi, Chiara and Provenzano, Giuseppe and Mari, Daniela and Monacelli, Fiammetta and Incalzi, Raffaele Antonelli and Pluderi, Alice and Bellamoli, Claudio and Terranova, Luciano and Scarpini, Elio and D'Amico, Ferdinando and Cavallini, Maria Chiara and Guerrini, Gianbattista and Scotuzzi, Anna Maria and Chiarello, Antonino and Pilotto, Alberto and Tognini, Sara and Dell'Aquila, Giuseppina and Toigo, Gabriele and Ceschia, Giuliano and Piccinini, Maristella and Fabbo, Andrea and Zoli, Marco and Forti, Paola and Wenter, Christian and Basile, Giorgio and Lasagni, Anna and Padovani, Alessandro and Rozzini, Luca and Vitali, Silvia and Tripi, Gabriele and Avanzi, Stefano and Annoni, Giorgio and Ruotolo, Giovanni and Bonino, Paolo and Marchionni, Niccolo and Fascendini, Sara and Noro, Gabriele and Turco, Renato and Ubezio, Maria C and Serrati, Carlo and Infante, Maria and Gentile, Simona and Pernigotti, Luigi M and Biagini, Carlo A and Canonico, Enzo and Gareri, Pietro and Ceretti, Arcangelo and Castiglia, Rosanna and Storto, Mario Lo and ... and Italian Study Grp Delirium ISGoD and Italian Study Group on Delirium (ISGoD) and on behalf of the Italian Study Group on Delirium (ISGoD)
BMC medicine, ISSN 1741-7015, 07/2016, Volume 14, Issue 1, pp. 106 - 106
Delirium | Prevalence | Hospital | Multicenter | 4AT | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Delirium - epidemiology | Prospective Studies | Cross-Sectional Studies | Humans | Logistic Models | Male | Inpatients - statistics & numerical data | Aged, 80 and over | Female | Italy - epidemiology | Surveys and Questionnaires | Aged | Odds Ratio | Delirium - diagnosis | Psychological aspects | Aged patients | Statistics | Health aspects | Index Medicus
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5. Full Text Epilepsy in Mowat–Wilson syndrome: Delineation of the electroclinical phenotype
by Cordelli, Duccio Maria and Garavelli, Livia and Savasta, Salvatore and Guerra, Azzurra and Pellicciari, Alessandro and Giordano, Lucio and Bonetti, Silvia and Cecconi, Ilaria and Wischmeijer, Anita and Seri, Marco and Rosato, Simonetta and Gelmini, Chiara and Della Giustina, Elvio and Ferrari, Anna Rita and Zanotta, Nicoletta and Epifanio, Roberta and Grioni, Daniele and Malbora, Baris and Mammi, Isabella and Mari, Francesca and Buoni, Sabrina and Mostardini, Rosa and Grosso, Salvatore and Pantaleoni, Chiara and Doz, Morena and Poch‐Olivé, Maria Luisa and Rivieri, Francesca and Sorge, Giovanni and Simonte, Graziella and Licata, Francesca and Tarani, Luigi and Terazzi, Emanuela and Mazzanti, Laura and Cerruti Mainardi, Paola and Boni, Antonella and Faravelli, Francesca and Grasso, Marina and Bianchi, Paolo and Zollino, Marcella and Franzoni, Emilio
American journal of medical genetics. Part A, ISSN 1552-4825, 02/2013, Volume 161, Issue 2, pp. 273 - 284
epilepsy | seizures | Mowat–Wilson syndrome | ZEB2 | EEG | Mowat-Wilson syndrome | Epilepsy | Seizures | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Microcephaly - genetics | Seizures - genetics | Humans | Hirschsprung Disease - genetics | Seizures - drug therapy | Child, Preschool | Male | Electroencephalography | Zinc Finger E-box Binding Homeobox 2 | Intellectual Disability - genetics | Young Adult | Seizures - physiopathology | DNA Mutational Analysis | Facies | Female | Microcephaly - physiopathology | Valproic Acid - therapeutic use | Retrospective Studies | Child | Microcephaly - drug therapy | Hirschsprung Disease - drug therapy | Hirschsprung Disease - physiopathology | Anticonvulsants - therapeutic use | Repressor Proteins - genetics | Homeodomain Proteins - genetics | Intellectual Disability - drug therapy | Intellectual Disability - physiopathology | Phenotype | Adolescent | Mutation | Anopheles | Sleep | Genes | Genetic aspects | Birth defects | Seizures (Medicine) | Universities and colleges | College teachers | Index Medicus | Age
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6. Full Text Expert consensus guidelines for the genetic diagnosis of Alport syndrome
by Savige, Judy and Savige, Judy and Ariani, Francesca and Ariani, Francesca and Mari, Francesca and Mari, Francesca and Bruttini, Mirella and Bruttini, Mirella and Renieri, Alessandra and Renieri, Alessandra and Gross, Oliver and Gross, Oliver and Deltas, Constantinos and Deltas, Constantinos and Flinter, Frances and Flinter, Frances and Ding, Jie and Ding, Jie and Gale, Daniel P and Gale, Daniel P and Nagel, Mato and Nagel, Mato and Yau, Michael and Yau, Michael and Shagam, Lev and Shagam, Lev and Torra, Roser and Torra, Roser and Ars, Elisabet and Ars, Elisabet and Hoefele, Julia and Hoefele, Julia and Garosi, Guido and Garosi, Guido and Storey, Helen and Storey, Helen
Pediatric Nephrology, ISSN 0931-041X, 7/2019, Volume 34, Issue 7, pp. 1175 - 1189
Collagen IV genes | Pediatrics | Nephrology | Pathogenic variants | Medicine & Public Health | Alport syndrome | Next generation sequencing | Urology | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Practice guidelines (Medicine) | Alport's syndrome | Genetic aspects | Diagnosis | Pediatric research | Genetic screening | Standards | Methods | Phenotypes | Genetic disorders | Splicing | Mosaicism | Genetic factors | Deoxyribonucleic acid--DNA | Index Medicus
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7. Full Text Evidence of digenic inheritance in Alport syndrome
by Mencarelli, Maria Antonietta and Heidet, Laurence and Storey, Helen and van Geel, Michel and Knebelmann, Bertrand and Fallerini, Chiara and Miglietti, Nunzia and Antonucci, Maria Fatima and Cetta, Francesco and Sayer, John A and van den Wijngaard, Arthur and Yau, Shu and Mari, Francesca and Bruttini, Mirella and Ariani, Francesca and Dahan, Karin and Smeets, Bert and Antignac, Corinne and Flinter, Frances and Renieri, Alessandra
Journal of medical genetics, ISSN 0022-2593, 03/2015, Volume 52, Issue 3, pp. 163 - 174
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Nephritis, Hereditary - pathology | Genetic Association Studies | Kidney - pathology | Humans | Middle Aged | Nephritis, Hereditary - genetics | Male | Autoantigens - genetics | Kidney - metabolism | Pedigree | Collagen Type IV - genetics | Adult | Female | Aged | Mutation | Alport's syndrome | Genetic aspects | Research | Gene mutations | Risk factors | Index Medicus
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8. Full Text MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability
by Bianciardi, Laura and Fichera, Marco and Failla, Pinella and Di Marco, Chiara and Grozeva, Detelina and Mencarelli, Maria Antonietta and Spiga, Ottavia and Mari, Francesca and Meloni, Ilaria and Raymond, Lucy and Renieri, Alessandra and Romano, Corrado and Ariani, Francesca
Journal of human genetics, ISSN 1434-5161, 02/2016, Volume 61, Issue 2, pp. 95 - 101
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Child, Preschool | Male | Mutation, Missense | Protein Domains - genetics | Genetic Diseases, X-Linked - diagnosis | Methyl-CpG-Binding Protein 2 - genetics | Intellectual Disability - genetics | Phenotype | Intellectual Disability - diagnosis | Adult | Female | Genetic Diseases, X-Linked - genetics | Child | Index Medicus
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