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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
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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, Vol.10, p.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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Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11–q13.31
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Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11–q13.31

Bisulli, Francesca ; Naldi, Ilaria ; Baldassari, Sara ; Magini, Pamela ; Licchetta, Laura ; Castegnaro, Giovanni ; Fabbri, Margherita ; Stipa, Carlotta ; Ferrari, Simona ; Seri, Marco ; Gonçalves Silva, Gilson Edmar ; Tinuper, Paolo ; Pippucci, Tommaso

Epilepsia (Copenhagen), 2014-06, Vol.55 (6), p.841-848 [Rivista Peer Reviewed]

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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
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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, Vol.7 (8), p.e797-n/a [Rivista Peer Reviewed]

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Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis
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Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis

Caramaschi, Elisa ; Stanghellini, Ilaria ; Magini, Pamela ; Giuffrida, Maria Grazia ; Scullin, Silvia ; Giuva, Tiziana ; Bergonzini, Patrizia ; Guerra, Azzurra ; Paolucci, Paolo ; Percesepe, Antonio

Italian journal of pediatrics, 2014-04-28, Vol.40 (1), p.39-39

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

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7
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, Vol.138 (3), p.257-269 [Rivista Peer Reviewed]

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8
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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9
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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10
A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability
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A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability

Kashevarova, Anna A ; Nazarenko, Lyudmila P ; Skryabin, Nikolay A ; Nikitina, Tatiana V ; Vasilyev, Stanislav A ; Tolmacheva, Ekaterina N ; Lopatkina, Mariya E ; Salyukova, Olga A ; Chechetkina, Nataliya N ; Vorotelyak, Ekaterina A ; Kalabusheva, Ekaterina P ; Fishman, Veniamin S ; Kzhyshkowska, Julia ; Graziano, Claudio ; Magini, Pamela ; Romeo, Giovanni ; Lebedev, Igor N

American journal of medical genetics. Part A, 2018, Vol.176 (11), p.2395-2403 [Rivista Peer Reviewed]

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