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Familial 5q12.3 Microdeletion: Evidence for a Locus Associated with Epilepsy.
Published in:
Molecular Syndromology, 2017, v. 8, n. 2, p. 98, doi. 10.1159/000454725
By:
- Gnan, Chiara;
- Franzoni, Alessandra;
- Baldan, Federica;
- Passon, Nadia;
- Damante, Giuseppe;
- Russo, Patrizia Dello
Publication type:
Article
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.
Published in:
Nature Genetics, 2015, v. 47, n. 5, p. 535, doi. 10.1038/ng.3253
By:
- Noetzli, Leila;
- Di Paola, Jorge;
- Landolt-Marticorena, Carolina;
- Heller, Paula;
- Gutierrez-Hartmann, Arthur;
- Xiayuan, Liang;
- Rowley, Jesse W;
- Weyrich, Andrew S;
- Kahr, Walter H A;
- Lo, Richard W;
- Lee-Sherick, Alisa B;
- Hunger, Stephen;
- Porter, Christopher C;
- Callaghan, Michael;
- Rajpurkar, Madhvi;
- Noris, Patrizia;
- Balduini, Carlo L;
- Pecci, Alessandro;
- Savoia, Anna;
- Gnan, Chiara
Publication type:
Article
Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability.
Published in:
2018
By:
- Lovrecic, Luca;
- Gnan, Chiara;
- Baldan, Federica;
- Franzoni, Alessandra;
- Bertok, Sara;
- Damante, Giuseppe;
- Isidor, Bertrand;
- Peterlin, Borut
Publication type:
Case Study
Mutations of RUNX1 in families with inherited thrombocytopenia.
Published in:
American Journal of Hematology, 2017, v. 92, n. 6, p. E86, doi. 10.1002/ajh.24703
By:
- De Rocco, Daniela;
- Melazzini, Federica;
- Marconi, Caterina;
- Pecci, Alessandro;
- Bottega, Roberta;
- Gnan, Chiara;
- Palombo, Flavia;
- Giordano, Paola;
- Coccioli, Maria Susanna;
- Glembotsky, Ana C.;
- Heller, Paula G.;
- Seri, Marco;
- Savoia, Anna;
- Noris, Patrizia
Publication type:
Article
Genomic Deletion Involving the <bold>IMMP2L</bold> Gene in Two Cases of Autism Spectrum Disorder.
Published in:
Cytogenetic & Genome Research, 2018, v. 154, n. 4, p. 196, doi. 10.1159/000489001
By:
- Baldan, Federica;
- Gnan, Chiara;
- Franzoni, alessandra;
- Ferino, Lucia;
- allegri, Lorenzo;
- Passon, Nadia;
- Damante, Giuseppe
Publication type:
Article
Microdeletion 15q26.2qter and Microduplication 18q23 in a Patient with Prader-Willi-Like Syndrome: Clinical Findings.
Published in:
2016
By:
- Dello Russo, Patrizia;
- Demori, Eliana;
- Sechi, annalisa;
- Passon, Nadia;
- Romagno, Daniela;
- Gnan, Chiara;
- Zoratti, Raffaele;
- Damante, Giuseppe
Publication type:
Case Study

Found: 6

Familial 5q12.3 Microdeletion: Evidence for a Locus Associated with Epilepsy.

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.

Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability.

Mutations of RUNX1 in families with inherited thrombocytopenia.

Genomic Deletion Involving the <bold>IMMP2L</bold> Gene in Two Cases of Autism Spectrum Disorder.

Microdeletion 15q26.2qter and Microduplication 18q23 in a Patient with Prader-Willi-Like Syndrome: Clinical Findings.