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1
XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments
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XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments

Magi, Alberto ; Pippucci, Tommaso ; Sidore, Carlo

BMC genomics, 2017-09-21, Vol.18 (1), p.747-747 [Rivista Peer Reviewed]

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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
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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

Pippucci, Tommaso ; Savoia, Anna ; Perrotta, Silverio ; Pujol-Moix, Núria ; Noris, Patrizia ; Castegnaro, Giovanni ; Pecci, Alessandro ; Gnan, Chiara ; Punzo, Francesca ; Marconi, Caterina ; Gherardi, Samuele ; Loffredo, Giuseppe ; De Rocco, Daniela ; Scianguetta, Saverio ; Barozzi, Serena ; Magini, Pamela ; Bozzi, Valeria ; Dezzani, Luca ; Di Stazio, Mariateresa ; Ferraro, Marcella ; Perini, Giovanni ; Seri, Marco ; Balduini, Carlo L

American journal of human genetics, 2011-01-07, Vol.88 (1), p.115-120 [Rivista Peer Reviewed]

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3
FA2H‐related disorders: a novel c.270+3A>T splice‐site mutation leads to a complex neurodegenerative phenotype
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FA2H‐related disorders: a novel c.270+3A>T splice‐site mutation leads to a complex neurodegenerative phenotype

GARONE, CATERINA ; PIPPUCCI, TOMMASO ; CORDELLI, DUCCIO M ; ZUNTINI, ROBERTA ; CASTEGNARO, GIOVANNI ; MARCONI, CATERINA ; GRAZIANO, CLAUDIO ; MARCHIANI, VALENTINA ; VERROTTI, ALBERTO ; SERI, MARCO ; FRANZONI, EMILIO

Developmental medicine and child neurology, 2011-10, Vol.53 (10), p.958-961 [Rivista Peer Reviewed]

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4
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype
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A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype

Licchetta, Laura ; Pippucci, Tommaso ; Bisulli, Francesca ; Cantalupo, Gaetano ; Magini, Pamela ; Alvisi, Lara ; Baldassari, Sara ; Martinelli, Paolo ; Naldi, Ilaria ; Vanni, Nicola ; Liguori, Rocco ; Seri, Marco ; Tinuper, Paolo

Epilepsia (Copenhagen), 2013-07, Vol.54 (7), p.1298-1306 [Rivista Peer Reviewed]

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5
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy
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Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy

Ricos, Michael G ; Hodgson, Bree L ; Pippucci, Tommaso ; Saidin, Akzam ; Ong, Yeh Sze ; Heron, Sarah E ; Licchetta, Laura ; Bisulli, Francesca ; Bayly, Marta A ; Hughes, James ; Baldassari, Sara ; Palombo, Flavia ; Santucci, Margherita ; Meletti, Stefano ; Berkovic, Samuel F ; Rubboli, Guido ; Thomas, Paul Q ; Scheffer, Ingrid E ; Tinuper, Paolo ; Geoghegan, Joel ; Schreiber, Andreas W ; Dibbens, Leanne M

Annals of neurology, 2016-01, Vol.79 (1), p.120-131 [Rivista Peer Reviewed]

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6
Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes
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Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

Harel, Tamar ; Yoon, Wan Hee ; Garone, Caterina ; Gu, Shen ; Coban-Akdemir, Zeynep ; Eldomery, Mohammad K ; Posey, Jennifer E ; Jhangiani, Shalini N ; Rosenfeld, Jill A ; Cho, Megan T ; Fox, Stephanie ; Withers, Marjorie ; Brooks, Stephanie M ; Chiang, Theodore ; Duraine, Lita ; Erdin, Serkan ; Yuan, Bo ; Shao, Yunru ; Moussallem, Elie ; Lamperti, Costanza ; Donati, Maria A ; Smith, Joshua D ; McLaughlin, Heather M ; Eng, Christine M ; Walkiewicz, Magdalena ; Xia, Fan ; Pippucci, Tommaso ; Magini, Pamela ; Seri, Marco ; Zeviani, Massimo ; Hirano, Michio ; Hunter, Jill V ; Srour, Myriam ; Zanigni, Stefano ; Lewis, Richard Alan ; Muzny, Donna M ; Lotze, Timothy E ; Boerwinkle, Eric ; Gibbs, Richard A ; Hickey, Scott E ; Graham, Brett H ; Yang, Yaping ; Buhas, Daniela ; Martin, Donna M ; Potocki, Lorraine ; Graziano, Claudio ; Bellen, Hugo J ; Lupski, James R

American journal of human genetics, 2016-10, Vol.99 (4), p.831-845 [Rivista Peer Reviewed]

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7
A heritable cause of cleft lip and palate—Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis
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A heritable cause of cleft lip and palate—Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis

Ferrero, Giovanni Battista ; Ferrero, Giovanni Battista ; Baldassarre, Giuseppina ; Baldassarre, Giuseppina ; Panza, Emanuele ; Panza, Emanuele ; Valenzise, Mariella ; Valenzise, Mariella ; Pippucci, Tommaso ; Pippucci, Tommaso ; Mussa, Alessandro ; Mussa, Alessandro ; Pepe, Ernesto ; Pepe, Ernesto ; Seri, Marco ; Seri, Marco ; Silengo, Margherita Cirillo ; Silengo, Margherita Cirillo

European journal of pediatrics, 2010-02, Vol.169 (2), p.223-228 [Rivista Peer Reviewed]

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8
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy
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A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

Pippucci, Tommaso ; Parmeggiani, Antonia ; Palombo, Flavia ; Maresca, Alessandra ; Angius, Andrea ; Crisponi, Laura ; Cucca, Francesco ; Liguori, Rocco ; Valentino, Maria Lucia ; Seri, Marco ; Carelli, Valerio ; Brusgaard, Klaus

PloS one, 2013, Vol.8 (12), p.e82154-e82154

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9
Spontaneous remission in a Diamond‐Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation
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Spontaneous remission in a Diamond‐Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation

Garelli, Emanuela ; Quarello, Paola ; Giorgio, Elisa ; Carando, Adriana ; Menegatti, Elisa ; Mancini, Cecilia ; Di Gregorio, Eleonora ; Crescenzio, Nicoletta ; Palumbo, Orazio ; Carella, Massimo ; Dimartino, Paola ; Pippucci, Tommaso ; Dianzani, Irma ; Ramenghi, Ugo ; Brusco, Alfredo

British journal of haematology, 2018-11-20, Vol.185 (5), p.994-998 [Rivista Peer Reviewed]

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10
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
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Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Florian, Rahel T ; Kraft, Florian ; Leitão, Elsa ; Kaya, Sabine ; Klebe, Stephan ; Magnin, Eloi ; van Rootselaar, Anne-Fleur ; Buratti, Julien ; Kühnel, Theresa ; Schröder, Christopher ; Giesselmann, Sebastian ; Tschernoster, Nikolai ; Altmueller, Janine ; Lamiral, Anaide ; Keren, Boris ; Nava, Caroline ; Bouteiller, Delphine ; Forlani, Sylvie ; Jornea, Ludmila ; Kubica, Regina ; Ye, Tao ; Plassard, Damien ; Jost, Bernard ; Meyer, Vincent ; Deleuze, Jean-François ; Delpu, Yannick ; Avarello, Mario D. M ; Vijfhuizen, Lisanne S ; Rudolf, Gabrielle ; Hirsch, Edouard ; Kroes, Thessa ; Reif, Philipp S ; Rosenow, Felix ; Ganos, Christos ; Vidailhet, Marie ; Thivard, Lionel ; Mathieu, Alexandre ; Bourgeron, Thomas ; Kurth, Ingo ; Rafehi, Haloom ; Steenpass, Laura ; Horsthemke, Bernhard ; LeGuern, Eric ; Klein, Karl Martin ; Labauge, Pierre ; Bennett, Mark F ; Bahlo, Melanie ; Gecz, Jozef ; Corbett, Mark A ; Tijssen, Marina A. J ; van den Maagdenberg, Arn M. J. M ; Depienne, Christel

Nature communications, 2019-10-29, Vol.10 (1), p.4919-4919 [Rivista Peer Reviewed]

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