Works by Orrico, Alfredo

Results: 14

Additional Case of Marden-Walker Syndrome: Support for the Autosomal-Recessive Inheritance and Refinement of Phenotype in a Surviving Patient.

Published in:

Journal of Child Neurology, 2001, v. 16, n. 2, p. 150, doi. 10.1177/088307380101600219

By:

Orrico, Alfredo;
Galli, Lucia;
Zappella, Michele;
Orsi, Alessandra;
Hayek, Giuseppe

Publication type:

Article

Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature.

Published in:

Biomedicines, 2020, v. 8, n. 12, p. 631, doi. 10.3390/biomedicines8120631

By:

Cinque, Luigia;
Angeletti, Cristina;
Orrico, Alfredo;
Castellana, Stefano;
Ferrito, Lucia;
Ciuoli, Cristina;
Mazza, Tommaso;
Castori, Marco;
Guarnieri, Vito

Publication type:

Article

Molecular Dissection Using Array Comparative Genomic Hybridization and Clinical Evaluation of An Infertile Male Carrier of An Unbalanced Y;21 Translocation: A Case Report and Review of The Literature.

Published in:

International Journal of Fertility & Sterility, 2016, v. 9, n. 4, p. 581

By:

Orrico, Alfredo;
Marseglia, Giuseppina;
Pescucci, Chiara;
Cortesi, Ambra;
Piomboni, Paola;
Giansanti, Andrea;
Gerundino, Francesca;
Ponchietti, Roberto

Publication type:

Article

Cortical damage in brains of patients with adult-form of myotonic dystrophy type 1 and no or minimal MRI abnormalities.

Published in:

Journal of Neurology, 2006, v. 253, n. 11, p. 1471, doi. 10.1007/s00415-006-0248-2

By:

Giorgio, Antonio;
Dotti, Maria T.;
Battaglini, Marco;
Marino, Silvia;
Mortilla, Marzia;
Stromillo, Maria L.;
Bramanti, Placido;
Orrico, Alfredo;
Federico, Antonio;
De Stefano, Nicola

Publication type:

Article

Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesia.

Published in:

Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1062326

By:

Luongo, Francesca Paola;
Luddi, Alice;
Ponchia, Rosetta;
Ferrante, Rossella;
Di Rado, Sara;
Paccagnini, Eugenio;
Gentile, Mariangela;
Lupetti, Pietro;
Guazzo, Raffaella;
Orrico, Alfredo;
Stuppia, Liborio;
Piomboni, Paola

Publication type:

Article

Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.

Published in:

Human Mutation, 2006, v. 27, n. 8, p. 830, doi. 10.1002/humu.9442

By:

Galli, Lucia;
Orrico, Alfredo;
Lorenzini, Stefania;
Censini, Stefano;
Falciani, Michela;
Covacci, Antonello;
Tegazzin, Vincenzo;
Sorrentino, Vincenzo

Publication type:

Article

Spinocerebellar Ataxia Type 2 (Sca2) Associated with Retinal Pigmentary Degeneration.

Published in:

European Neurology, 2002, v. 47, n. 2, p. 128, doi. 10.1159/000047968

By:

Rufa, Alessandra;
Dotti, Maria Teresa;
Galli, Lucia;
Orrico, Alfredo;
Sicurelli, Francesco;
Federico, Antonio

Publication type:

Article

Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. -1, doi. 10.1038/ejhg.2014.178

By:

Orrico, Alfredo;
Galli, Lucia;
Clayton-Smith, Jill;
Fryns, Jean-Pierre

Publication type:

Article

Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1, doi. 10.1038/ejhg.2011.108

By:

Orrico, Alfredo;
Galli, Lucia;
Clayton-Smith, Jill;
Fryns, Jean-Pierre

Publication type:

Article

Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 1, p. 16, doi. 10.1038/sj.ejhg.5201081

By:

Orrico, Alfredo;
Galli, Lucia;
Cavaliere, Maria Luigia;
Garavelli, Livia;
Fryns, Jean-Pierre;
Crushell, Ellen;
Rinaldi, Maria Michela;
Medeira, Ana;
Sorrentino, Vincenzo

Publication type:

Article

Whole Exome Sequencing in BRCA1-2 Candidate Families: The Contribution of Other Cancer Susceptibility Genes.

Published in:

Frontiers in Oncology, 2021, v. 11, p. N.PAG, doi. 10.3389/fonc.2021.649435

By:

Doddato, Gabriella;
Valentino, Floriana;
Giliberti, Annarita;
Papa, Filomena Tiziana;
Tita, Rossella;
Bruno, Lucia Pia;
Resciniti, Sara;
Fallerini, Chiara;
Benetti, Elisa;
Palmieri, Maria;
Mencarelli, Maria Antonietta;
Fabbiani, Alessandra;
Bruttini, Mirella;
Orrico, Alfredo;
Baldassarri, Margherita;
Fava, Francesca;
Lopergolo, Diego;
Lo Rizzo, Caterina;
Lamacchia, Vittoria;
Mannucci, Sara

Publication type:

Article

Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes.

Published in:

2021

By:

Doddato, Gabriella;
Valentino, Floriana;
Giliberti, Annarita;
Papa, Filomena Tiziana;
Tita, Rossella;
Bruno, Lucia Pia;
Resciniti, Sara;
Fallerini, Chiara;
Benetti, Elisa;
Palmieri, Maria;
Mencarelli, Maria Antonietta;
Fabbiani, Alessandra;
Bruttini, Mirella;
Orrico, Alfredo;
Baldassarri, Margherita;
Fava, Francesca;
Lopergolo, Diego;
Rizzo, Caterina Lo;
Lamacchia, Vittoria;
Mannucci, Sara

Publication type:

Correction Notice

Ethical, Legal and Social Issues (ELSI) Associated with Non-Invasive Prenatal Testing: Reflections on the Evolution of Prenatal Diagnosis and Procreative Choices.

Published in:

Genes, 2021, v. 12, n. 2, p. 204, doi. 10.3390/genes12020204

By:

Zaami, Simona;
Orrico, Alfredo;
Signore, Fabrizio;
Cavaliere, Anna Franca;
Mazzi, Marta;
Marinelli, Enrico

Publication type:

Article

The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review.

Published in:

Genetics Research, 2021, p. 1, doi. 10.1155/2021/6652957

By:

Zanetti Drumond, Victor;
Sousa Salgado, Lucas;
Sousa Salgado, Camila;
Oliveira, Vitor Augusto de Lima;
de Assis, Eliene Magda;
Campos Ribeiro, Michel;
Furtado Valadão, Analina;
Orrico, Alfredo;
Tischkowitz, Marc

Publication type:

Article