Search Results - "Peron, Angela"

Genetics, genomics, and genotype–phenotype correlations of TSC: Insights for clinical practice by Peron, Angela, Au, Kit Sing, Northrup, Hope

“…Tuberous Sclerosis Complex (TSC) is a multisystem autosomal dominant condition caused by inactivating pathogenic variants in either the TSC1 or the TSC2 gene,…”
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Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex by Peron, Angela, Canevini, Maria Paola, Ghelma, Filippo, Di Marco, Fabiano, Vignoli, Aglaia

“…Healthcare transition from childhood to adulthood is required to ensure continuity of care of an increasing number of individuals with chronic conditions…”
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The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1 by Cervi, Francesca, Saletti, Veronica, Turner, Katherine, Peron, Angela, Bulgheroni, Sara, Taddei, Matilde, La Briola, Francesca, Canevini, Maria Paola, Vignoli, Aglaia

“…Tuberous Sclerosis Complex (TSC) and Neurofibromatosis type 1 (NF1) are neurocutaneous disorders commonly characterized by neuropsychiatric comorbidities. The…”
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Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures? by Słowińska, Monika, Jóźwiak, Sergiusz, Peron, Angela, Borkowska, Julita, Chmielewski, Dariusz, Sadowski, Krzysztof, Jurkiewicz, Elżbieta, Vignoli, Aglaia, La Briola, Francesca, Canevini, Maria Paola, Kotulska-Jóźwiak, Katarzyna

“…Tuberous sclerosis complex (TSC) is a genetic disorder with an incidence of 1:6000 live births and associated with the development of benign tumors in several…”
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Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights by Bacci, Giacomo M., Marziali, Elisa, Bargiacchi, Sara, Paques, Michel, Virgili, Gianni, Fortunato, Pina, Durand, Marine, Rocca, Camilla, Pagliazzi, Angelica, Palazzo, Viviana, Tiberi, Lucia, Vergani, Debora, Landini, Samuela, Peron, Angela, Artuso, Rosangela, Pacini, Bianca, Stabile, Monica, Sodi, Andrea, Caputo, Roberto

“…Aim of the present study is to evaluate the relationship between genetic and phenotypic data in a series of patients affected by grade I and II of foveal…”
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Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants by Perego, Sara, Alari, Valentina, Pietra, Gianluca, Lamperti, Andrea, Vimercati, Alessandro, Camporeale, Nicole, Garzo, Maria, Cogliati, Francesca, Milani, Donatella, Vignoli, Aglaia, Peron, Angela, Larizza, Lidia, Pizzorusso, Tommaso, Russo, Silvia

“…Rett syndrome caused by variants is characterized by a heterogenous clinical spectrum accounted for in 60% of cases by hot-spot variants. Focusing on the most…”
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P566: Global genetic health assessment project: Let's not leave anyone behind by Abu-El-Haija, Aya, Cook, Stacey, Keegan, Nathan, Peron, Angela

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Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers by Vignoli, Aglaia, La Briola, Francesca, Peron, Angela, Turner, Katherine, Vannicola, Chiara, Saccani, Monica, Magnaghi, Elisabetta, Scornavacca, Giulia Federica, Canevini, Maria Paola

“…Neuropsychiatric disorders are present in up to 90% of patients with Tuberous Sclerosis Complex (TSC), and represent an important issue for families. Autism…”
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Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes by Cogliati, Francesca, Giorgini, Valentina, Masciadri, Maura, Bonati, Maria Teresa, Marchi, Margherita, Cracco, Irene, Gentilini, Davide, Peron, Angela, Savini, Miriam Nella, Spaccini, Luigina, Scelsa, Barbara, Maitz, Silvia, Veneselli, Edvige, Prato, Giulia, Pintaudi, Maria, Moroni, Isabella, Vignoli, Aglaia, Larizza, Lidia, Russo, Silvia

“…Rett syndrome (RTT) is a neurodevelopmental disorder, affecting 1 in 10,000 girls. Intellectual disability, loss of speech and hand skills with stereotypies,…”
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Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study by Cavirani, Benedetta, Spagnoli, Carlotta, Caraffi, Stefano Giuseppe, Cavalli, Anna, Cesaroni, Carlo Alberto, Cutillo, Gianni, De Giorgis, Valentina, Frattini, Daniele, Marchetti, Giulia Bruna, Masnada, Silvia, Peron, Angela, Rizzi, Susanna, Varesio, Costanza, Spaccini, Luigina, Vignoli, Aglaia, Canevini, Maria Paola, Veggiotti, Pierangelo, Garavelli, Livia, Fusco, Carlo

“…The genetic causes of epilepsies and developmental and epileptic encephalopathies (DEE) with onset in early childhood are increasingly recognized. Their…”
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Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes by Peron, Angela, Catusi, Ilaria, Recalcati, Maria Paola, Calzari, Luciano, Larizza, Lidia, Vignoli, Aglaia, Canevini, Maria Paola

“…Ring chromosome 20 [r(20)] syndrome is a rare condition characterized by a non-supernumerary ring chromosome 20 replacing a normal chromosome 20. It is…”
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Characterization of intellectual disability and autism comorbidity through gene panel sequencing by Aspromonte, Maria C., Bellini, Mariagrazia, Gasparini, Alessandra, Carraro, Marco, Bettella, Elisa, Polli, Roberta, Cesca, Federica, Bigoni, Stefania, Boni, Stefania, Carlet, Ombretta, Negrin, Susanna, Mammi, Isabella, Milani, Donatella, Peron, Angela, Sartori, Stefano, Toldo, Irene, Soli, Fiorenza, Turolla, Licia, Stanzial, Franco, Benedicenti, Francesco, Marino‐Buslje, Cristina, Tosatto, Silvio C. E., Murgia, Alessandra, Leonardi, Emanuela

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Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome by Bestetti, Ilaria, Crippa, Milena, Sironi, Alessandra, Tumiatti, Francesca, Masciadri, Maura, Smeland, Marie Falkenberg, Naik, Swati, Murch, Oliver, Bonati, Maria Teresa, Spano, Alice, Cattaneo, Elisa, Mariani, Milena, Gotta, Fabio, Crosti, Francesca, Cavalli, Pietro, Pantaleoni, Chiara, Natacci, Federica, Bedeschi, Maria Francesca, Milani, Donatella, Maitz, Silvia, Selicorni, Angelo, Spaccini, Luigina, Peron, Angela, Russo, Silvia, Larizza, Lidia, Low, Karen, Finelli, Palma

“…KBG syndrome (KBGS) is a neurodevelopmental disorder caused by the Ankyrin Repeat Domain 11 ( ) haploinsufficiency. Here, we report the molecular…”
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Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis by Di Marco, Fabiano, Terraneo, Silvia, Imeri, Gianluca, Palumbo, Giuseppina, La Briola, Francesca, Tresoldi, Silvia, Volpi, Angela, Gualandri, Lorenzo, Ghelma, Filippo, Alfano, Rosa Maria, Montanari, Emanuele, Gorio, Alfredo, Lesma, Elena, Peron, Angela, Canevini, Maria Paola, Centanni, Stefano

“…The advent of pharmacological therapies for lymphangioleiomyomatosis (LAM) has made early diagnosis important in women with tuberous sclerosis complex (TSC),…”
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Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature by Barbato, Alessandro, Gori, Giulia, Sacchini, Michele, Pochiero, Francesca, Bargiacchi, Sara, Traficante, Giovanna, Palazzo, Viviana, Tiberi, Lucia, Bianchini, Claudia, Mei, Davide, Parrini, Elena, Pisano, Tiziana, Procopio, Elena, Guerrini, Renzo, Peron, Angela, Stagi, Stefano

“…Cytochrome C oxidase (COX) is the fourth component of the respiratory chain and is located within the internal membrane of mitochondria. COX deficiency causes…”
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Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies by Parodi, Chiara, Di Fede, Elisabetta, Peron, Angela, Viganò, Ilaria, Grazioli, Paolo, Castiglioni, Silvia, Finnell, Richard H, Gervasini, Cristina, Vignoli, Aglaia, Massa, Valentina

“…Prenatal exposure to valproate (VPA), an antiepileptic drug, has been associated with fetal valproate spectrum disorders (FVSD), a clinical condition including…”
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Exploring the Role of Matrix Metalloproteinases as Biomarkers in Sporadic Lymphangioleiomyomatosis and Tuberous Sclerosis Complex. A Pilot Study by Terraneo, Silvia, Lesma, Elena, Ancona, Silvia, Imeri, Gianluca, Palumbo, Giuseppina, Torre, Olga, Giuliani, Lisa, Centanni, Stefano, Peron, Angela, Tresoldi, Silvia, Cetrangolo, Paola, Di Marco, Fabiano

“…Lymphangioleiomyomatosis can develop in a sporadic form (S-LAM) or in women with tuberous sclerosis complex (TSC). The matrix metalloproteinases (MMPs) are…”
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O43: Characterization of the prenatal renal phenotype associated with 17q12/HNF1B microdeletions by Verscaj, Courtney, Velez-Bartolomei, Frances, Bodle, Ethan, Chan, Katie, Lyons, Michael, Thorson, Willa, Tan, Wen-Hann, Graham, John, Peron, Angela, Quintero-Rivera, Fabiola, Zackai, Elaine, Thomas, Mary Ann, Stevens, Cathy, Adam, Margaret, Bird, Lynne, Jones, Marilyn, Matalon, Dena

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Interstitial 6q microdeletion syndrome and epilepsy: A new patient and review of the literature by Vignoli, Aglaia, Scornavacca, Giulia Federica, Peron, Angela, La Briola, Francesca, Canevini, Maria Paola

“…Interstitial deletions of the long arm of chromosome 6 represent a rare genomic disorder. Variable phenotypes has been reported in patients carrying this…”
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P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity by Peron, Angela, Alfano, Rosa Maria, Moore, Barry, Nellist, Mark, Pedersen, Brent, La Briola, Francesca, Spaccini, Luigina, Natacci, Federica, Recalcati, Maria Paola, Chiesa, Valentina, Arancio, Rosangela, Cavallari, Ugo, Vannicola, Chiara, Cefalo, Graziella, Maitz, Silvia, Bigoni, Stefania, Gualandri, Lorenzo, Gervasini, Cristina, Veggiotti, Pierangelo, van Ijcken, Wilfred, Vignoli, Aglaia, Bulfamante, Gaetano Pietro, Carey, John, Canevini, Maria Paola

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