Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes

by Angela Peron, Angela Peron, Angela Peron, Ilaria Catusi, Maria Paola Recalcati, Luciano Calzari, Lidia Larizza, Aglaia Vignoli, Maria Paola Canevini
Published 2020-12-01

Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies

by Chiara Parodi, Elisabetta Di Fede, Angela Peron, Angela Peron, Angela Peron, Ilaria Viganò, Paolo Grazioli, Silvia Castiglioni, Richard H. Finnell, Cristina Gervasini, Cristina Gervasini, Aglaia Vignoli, Valentina Massa, Valentina Massa
Published 2021-04-01

Exploring the Role of Matrix Metalloproteinases as Biomarkers in Sporadic Lymphangioleiomyomatosis and Tuberous Sclerosis Complex. A Pilot Study

by Silvia Terraneo, Silvia Terraneo, Elena Lesma, Silvia Ancona, Gianluca Imeri, Giuseppina Palumbo, Giuseppina Palumbo, Olga Torre, Olga Torre, Lisa Giuliani, Stefano Centanni, Stefano Centanni, Angela Peron, Angela Peron, Angela Peron, Silvia Tresoldi, Paola Cetrangolo, Fabiano Di Marco
Published 2021-04-01

The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1

by Francesca Cervi, Veronica Saletti, Katherine Turner, Angela Peron, Sara Bulgheroni, Matilde Taddei, Francesca La Briola, Maria Paola Canevini, Aglaia Vignoli
Published 2020-09-01

Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis: more pathological findings in the same chest CT, or a single pathological pathway?

by Fabiano Di Marco, Giuseppina Palumbo, Silvia Terraneo, Gianluca Imeri, Elena Lesma, Nicola Sverzellati, Angela Peron, Lorenzo Gualandri, Maria Paola Canevini, Stefano Centanni
Published 2017-07-01

Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?

by Monika Słowińska, Sergiusz Jóźwiak, Angela Peron, Julita Borkowska, Dariusz Chmielewski, Krzysztof Sadowski, Elżbieta Jurkiewicz, Aglaia Vignoli, Francesca La Briola, Maria Paola Canevini, Katarzyna Kotulska-Jóźwiak
Published 2018-01-01

Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis.

by Fabiano Di Marco, Silvia Terraneo, Gianluca Imeri, Giuseppina Palumbo, Francesca La Briola, Silvia Tresoldi, Angela Volpi, Lorenzo Gualandri, Filippo Ghelma, Rosa Maria Alfano, Emanuele Montanari, Alfredo Gorio, Elena Lesma, Angela Peron, Maria Paola Canevini, Stefano Centanni
Published 2016-01-01

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature

by Ilaria Catusi, Maria Garzo, Anna Paola Capra, Silvana Briuglia, Chiara Baldo, Maria Paola Canevini, Rachele Cantone, Flaviana Elia, Francesca Forzano, Ornella Galesi, Enrico Grosso, Michela Malacarne, Angela Peron, Corrado Romano, Monica Saccani, Lidia Larizza, Maria Paola Recalcati
Published 2021-04-01

Pathogenic Variants in <i>STXBP1</i> and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes

by Francesca Cogliati, Valentina Giorgini, Maura Masciadri, Maria Teresa Bonati, Margherita Marchi, Irene Cracco, Davide Gentilini, Angela Peron, Miriam Nella Savini, Luigina Spaccini, Barbara Scelsa, Silvia Maitz, Edvige Veneselli, Giulia Prato, Maria Pintaudi, Isabella Moroni, Aglaia Vignoli, Lidia Larizza, Silvia Russo
Published 2019-07-01