Artikler med mandater om offentlig tilgang - Tommaso PippucciLes mer
Ikke tilgjengelige noe sted: 6
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Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts
MP Milev, C Graziano, D Karall, WFE Kuper, N Al-Deri, DM Cordelli, ...
Journal of Medical Genetics 55 (11), 753-764, 2018
Mandater: Austrian Science Fund, Canadian Institutes of Health Research, Natural …
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Whole‐exome sequencing in adult patients with developmental and epileptic encephalopathy: it is never too late
R Minardi, L Licchetta, MC Baroni, T Pippucci, C Stipa, B Mostacci, ...
Clinical Genetics 98 (5), 477-485, 2020
Mandater: US National Institutes of Health
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Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant
C Graziano, A Wischmeijer, T Pippucci, C Fusco, C Diquigiovanni, ...
Gene 559 (2), 144-148, 2015
Mandater: US National Institutes of Health, European Commission, Government of Italy
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Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11. 2–2q11. 2
L Henden, S Freytag, Z Afawi, S Baldassari, SF Berkovic, F Bisulli, ...
Human genetics 135, 1117-1125, 2016
Mandater: National Health and Medical Research Council, Australia
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ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia
M Faleschini, F Melazzini, C Marconi, T Giangregorio, T Pippucci, ...
British Journal of Haematology 183 (2), 276-288, 2018
Mandater: Government of Italy
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LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF)
P Magini, F Bisulli, S Baldassari, C Stipa, I Naldi, L Licchetta, V Menghi, ...
Epilepsy research 108 (5), 972-977, 2014
Mandater: Government of Italy
Tilgjengelige et eller annet sted: 86
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Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families
P Noris, S Perrotta, M Seri, A Pecci, C Gnan, G Loffredo, N Pujol-Moix, ...
Blood, The Journal of the American Society of Hematology 117 (24), 6673-6680, 2011
Mandater: Fondazione Telethon, Italy
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ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population
E Benetti, R Tita, O Spiga, A Ciolfi, G Birolo, A Bruselles, G Doddato, ...
European Journal of Human Genetics 28 (11), 1602-1614, 2020
Mandater: Fondazione Telethon, Italy, Government of Italy
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Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ...
The American Journal of Human Genetics 105 (2), 267-282, 2019
Mandater: US National Institutes of Health, UK Medical Research Council, National …
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Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2
T Pippucci, A Savoia, S Perrotta, N Pujol-Moix, P Noris, G Castegnaro, ...
The American Journal of Human Genetics 88 (1), 115-120, 2011
Mandater: Fondazione Telethon, Italy
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EXCAVATOR: detecting copy number variants from whole-exome sequencing data
A Magi, L Tattini, I Cifola, R D’Aurizio, M Benelli, E Mangano, C Battaglia, ...
Genome biology 14, 1-18, 2013
Mandater: Fondazione Cariplo, Government of Italy
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Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy
MG Ricos, BL Hodgson, T Pippucci, A Saidin, YS Ong, SE Heron, ...
Annals of neurology 79 (1), 120-131, 2016
Mandater: National Health and Medical Research Council, Australia, Fondazione Telethon …
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The landscape of epilepsy-related GATOR1 variants
S Baldassari, F Picard, NE Verbeek, M van Kempen, EH Brilstra, G Lesca, ...
Genetics in Medicine 21 (2), 398-408, 2019
Mandater: US National Institutes of Health, National Institute of Health and Medical …
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Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes
T Harel, WH Yoon, C Garone, S Gu, Z Coban-Akdemir, MK Eldomery, ...
The American Journal of Human Genetics 99 (4), 831-845, 2016
Mandater: US National Institutes of Health, UK Medical Research Council, European …
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Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
MA Corbett, T Kroes, L Veneziano, MF Bennett, R Florian, AL Schneider, ...
Nature communications 10 (1), 4920, 2019
Mandater: National Health and Medical Research Council, Australia, National Institute …
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H 3 M 2 : detection of runs of homozygosity from whole-exome sequencing data
A Magi, L Tattini, F Palombo, M Benelli, A Gialluisi, B Giusti, R Abbate, ...
Bioinformatics 30 (20), 2852-2859, 2014
Mandater: Government of Italy
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Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia
F Melazzini, F Palombo, A Balduini, D De Rocco, C Marconi, P Noris, ...
Haematologica 101 (11), 1333, 2016
Mandater: Fondazione Telethon, Italy, Fondazione Cariplo, Government of Italy
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Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2
R D'Aurizio, T Pippucci, L Tattini, B Giusti, M Pellegrini, A Magi
Nucleic acids research 44 (20), e154-e154, 2016
Mandater: Government of Italy
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Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction
E Bonora, F Bianco, L Cordeddu, M Bamshad, L Francescatto, D Dowless, ...
Gastroenterology 148 (4), 771-782. e11, 2015
Mandater: US National Institutes of Health, European Commission, Government of Italy
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A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy
T Pippucci, A Parmeggiani, F Palombo, A Maresca, A Angius, L Crisponi, ...
PloS one 8 (12), e82154, 2013
Mandater: Government of Italy
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