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1
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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2
Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism
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Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism

Panza, Emanuele ; Martinelli, Diego ; Magini, Pamela ; Dionisi Vici, Carlo ; Seri, Marco

Frontiers in neurology, 2019-02-22, Vol.10, p.131-131 [Rivista Peer Reviewed]

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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
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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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4
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21
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Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21

Pelleri, Maria Chiara ; Cicchini, Elena ; Petersen, Michael B ; Tranebjærg, Lisbeth ; Mattina, Teresa ; Magini, Pamela ; Antonaros, Francesca ; Caracausi, Maria ; Vitale, Lorenza ; Locatelli, Chiara ; Seri, Marco ; Strippoli, Pierluigi ; Piovesan, Allison ; Cocchi, Guido

Molecular genetics & genomic medicine, 2019-06-25, Vol.7 (8), p.e797-n/a [Rivista Peer Reviewed]

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5
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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6
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders
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Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders

Magini, Pamela ; Scarano, Emanuela ; Donati, Ilaria ; Sensi, Alberto ; Mazzanti, Laura ; Perri, Annamaria ; Tamburrino, Federica ; Mongelli, Patrizia ; Percesepe, Antonio ; Visconti, Paola ; Parmeggiani, Antonia ; Seri, Marco ; Graziano, Claudio

Gene, 2019-07, Vol.706, p.162-171 [Rivista Peer Reviewed]

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7
From Whole Gene Deletion to Point Mutations of EP300‐Positive Rubinstein–Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks
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From Whole Gene Deletion to Point Mutations of EP300‐Positive Rubinstein–Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

Negri, Gloria ; Magini, Pamela ; Milani, Donatella ; Colapietro, Patrizia ; Rusconi, Daniela ; Scarano, Emanuela ; Bonati, Maria Teresa ; Priolo, Manuela ; Crippa, Milena ; Mazzanti, Laura ; Wischmeijer, Anita ; Tamburrino, Federica ; Pippucci, Tommaso ; Finelli, Palma ; Larizza, Lidia ; Gervasini, Cristina

Human mutation, 2016-02, Vol.37 (2), p.175-183 [Rivista Peer Reviewed]

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8
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders
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Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

Negri, Gloria ; Magini, Pamela ; Milani, Donatella ; Crippa, Milena ; Biamino, Elisa ; Piccione, Maria ; Sotgiu, Stefano ; Perrìa, Chiara ; Vitiello, Giuseppina ; Frontali, Marina ; Boni, Antonella ; Di Fede, Elisabetta ; Gandini, Maria Chiara ; Colombo, Elisa Adele ; Bamshad, Michael J ; Nickerson, Deborah A ; Smith, Joshua D ; Loddo, Italia ; Finelli, Palma ; Seri, Marco ; Pippucci, Tommaso ; Larizza, Lidia ; Gervasini, Cristina

Human genetics, 2019-02-26, Vol.138 (3), p.257-269 [Rivista Peer Reviewed]

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9
Messenger RNA processing is altered in autosomal dominant leukodystrophy
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Messenger RNA processing is altered in autosomal dominant leukodystrophy

Bartoletti-Stella, Anna ; Gasparini, Laura ; Giacomini, Caterina ; Corrado, Patrizia ; Terlizzi, Rossana ; Giorgio, Elisa ; Magini, Pamela ; Seri, Marco ; Baruzzi, Agostino ; Parchi, Piero ; Brusco, Alfredo ; Cortelli, Pietro ; Capellari, Sabina

Human molecular genetics, 2017-10-01, Vol.26 (19), p.3868-3868 [Rivista Peer Reviewed]

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10
Prenatal diagnosis of Simpson–Golabi–Behmel syndrome
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Prenatal diagnosis of Simpson–Golabi–Behmel syndrome

Magini, Pamela ; Palombo, Flavia ; Boito, Simona ; Lanzoni, Giulia ; Mongelli, Patrizia ; Rizzuti, Tommaso ; Baccarin, Marco ; Pippucci, Tommaso ; Seri, Marco ; Lalatta, Faustina

American journal of medical genetics. Part A, 2016-12, Vol.170 (12), p.3258-3264 [Rivista Peer Reviewed]

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