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1
New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
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New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

Crippa, Milena ; Bestetti, Ilaria ; Perotti, Mario ; Castronovo, Chiara ; Tabano, Silvia ; Picinelli, Chiara ; Grassi, Guido ; Larizza, Lidia ; Pincelli, Angela Ida ; Finelli, Palma

BMC medical genetics, 2014-05-02, Vol.15 (1), p.52-52 [Rivista Peer Reviewed]

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Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype
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Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype

Finelli, Palma ; Sirchia, Silvia Maria ; Masciadri, Maura ; Crippa, Milena ; Recalcati, Maria Paola ; Rusconi, Daniela ; Giardino, Daniela ; Monti, Laura ; Cogliati, Francesca ; Faravelli, Francesca ; Natacci, Federica ; Zoccante, Leonardo ; Bernardina, Bernardo Dalla ; Russo, Silvia ; Larizza, Lidia

Molecular cytogenetics, 2012-04-04, Vol.5 (1), p.16-16 [Rivista Peer Reviewed]

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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
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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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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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SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome
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SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

Crippa, Milena ; Bestetti, Ilaria ; Maitz, Silvia ; Weiss, Karin ; Spano, Alice ; Masciadri, Maura ; Smithson, Sarah ; Larizza, Lidia ; Low, Karen ; Cohen, Lior ; Finelli, Palma

Frontiers in neurology, 2020-07-24, Vol.11, p.631-631 [Rivista Peer Reviewed]

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6
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression
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9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression

Bonati, Maria Teresa ; Castronovo, Chiara ; Sironi, Alessandra ; Zimbalatti, Dario ; Bestetti, Ilaria ; Crippa, Milena ; Novelli, Antonio ; Loddo, Sara ; Dentici, Maria Lisa ; Taylor, Juliet ; Devillard, Françoise ; Larizza, Lidia ; Finelli, Palma

Neurogenetics, 2019-08-07, Vol.20 (3), p.145-154 [Rivista Peer Reviewed]

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7
Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479) and c.3474G>A, p.(Trp1158) and missense c.4627G>T, p.(Asp1543Tyr) mutations
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Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479) and c.3474G>A, p.(Trp1158) and missense c.4627G>T, p.(Asp1543Tyr) mutations

Alari, Valentina ; Russo, Silvia ; Rovina, Davide ; Garzo, Maria ; Crippa, Milena ; Calzari, Luciano ; Scalera, Claudia ; Concolino, Daniela ; Castiglioni, Elisa ; Giardino, Daniela ; Prosperi, Ennio ; Finelli, Palma ; Gervasini, Cristina ; Gowran, Aoife ; Larizza, Lidia

Stem cell research, 2019-10, Vol.40, p.101553-101553 [Rivista Peer Reviewed]

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Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes
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Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes

Crippa, Milena ; Bonati, Maria Teresa ; Calzari, Luciano ; Picinelli, Chiara ; Gervasini, Cristina ; Sironi, Alessandra ; Bestetti, Ilaria

Frontiers in genetics, 2019-10-15, Vol.10, p.955-955 [Rivista Peer Reviewed]

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9
Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277)
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Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277)

Alari, Valentina ; Russo, Silvia ; Rovina, Davide ; Gowran, Aoife ; Garzo, Maria ; Crippa, Milena ; Mazzanti, Laura ; Scalera, Claudia ; Prosperi, Ennio ; Giardino, Daniela ; Gervasini, Cristina ; Finelli, Palma ; Pompilio, Giulio ; Larizza, Lidia

Stem cell research, 2018-07, Vol.30, p.175-179 [Rivista Peer Reviewed]

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10
Complex de novo chromosomal rearrangement at 15q11–q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature
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Complex de novo chromosomal rearrangement at 15q11–q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature

Castronovo, Chiara ; Crippa, Milena ; Bestetti, Ilaria ; Rusconi, Daniela ; Russo, Silvia ; Larizza, Lidia ; Sangermani, Roberto ; Bonati, Maria Teresa ; Finelli, Palma

American journal of medical genetics. Part A, 2015-01, Vol.167 (1), p.221-230 [Rivista Peer Reviewed]

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