Search Results - "Lo Castro, Adriana"

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome by Walz, Katherina, Cohen, Devon, Neilsen, Paul M., Foster, Joseph, Brancati, Francesco, Demir, Korcan, Fisher, Richard, Moffat, Michelle, Verbeek, Nienke E., Bjørgo, Kathrine, Lo Castro, Adriana, Curatolo, Paolo, Novelli, Giuseppe, Abad, Clemer, Lei, Cao, Zhang, Lily, Diaz-Horta, Oscar, Young, Juan I., Callen, David F., Tekin, Mustafa

“…Mutations in ANKRD11 have recently been reported to cause KBG syndrome, an autosomal dominant condition characterized by intellectual disability (ID),…”
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Early Hippocampal i-LTP and LOX-1 Overexpression Induced by Anoxia: A Potential Role in Neurodegeneration in NPC Mouse Model by Lo Castro, Adriana, Murdocca, Michela, Pucci, Sabina, Zaratti, Anna, Greggi, Chiara, Sangiuolo, Federica, Tancredi, Virginia, Frank, Claudio, D'Arcangelo, Giovanna

“…Niemann-Pick type C disease (NPCD) is an autosomal recessive storage disorder, characterized by abnormal sequestration of unesterified cholesterol within the…”
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Epilepsy associated with autism and attention deficit hyperactivity disorder: Is there a genetic link? by Lo-Castro, Adriana, Curatolo, Paolo

“…Abstract Autism Spectrum Disorders (ASDs) and Attention Deficit and Hyperactivity Disorder (ADHD) are the most common comorbid conditions associated with…”
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ADHD and genetic syndromes by Lo-Castro, Adriana, D’Agati, Elisa, Curatolo, Paolo

“…Abstract A high rate of Attention Deficit/Hyperactivity Disorder (ADHD)-like characteristics has been reported in a wide variety of disorders including…”
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Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations by Lo-Castro, Adriana, Brancati, Francesco, Digilio, Maria Cristina, Garaci, Francesco Giuseppe, Bollero, Patrizio, Alfieri, Paolo, Curatolo, Paolo

“…KBG syndrome is a rare disease characterized by typical facial dysmorphism, macrodontia of upper central incisors, skeletal abnormalities, and developmental…”
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Sox11 is required to maintain proper levels of Hedgehog signaling during vertebrate ocular morphogenesis by Pillai-Kastoori, Lakshmi, Wen, Wen, Wilson, Stephen G, Strachan, Erin, Lo-Castro, Adriana, Fichera, Marco, Musumeci, Sebastiano A, Lehmann, Ordan J, Morris, Ann C

“…Ocular coloboma is a sight-threatening malformation caused by failure of the choroid fissure to close during morphogenesis of the eye, and is frequently…”
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Detecting anxiety symptoms in children and youths with neurofibromatosis type I by Pasini, Augusto, Lo-Castro, Adriana, Di Carlo, Loredana, Pitzianti, Mariabernarda, Siracusano, Martina, Rosa, Caterina, Galasso, Cinzia

“…Children with Neurofibromatosis type 1 (NF1) are known to have cognitive, social, and behavioral deficits. Fifteen NF1‐subjects (5 boys, 10 girls, mean age =…”
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Seizures induced by desloratadine, a second-generation antihistamine: clinical observations by Cerminara, Caterina, El-Malhany, Nadia, Roberto, Denis, Lo Castro, Adriana, Curatolo, Paolo

“…Some clinical experiences indicate that H1-antihistamines, especially first-generation H1-antagonists, occasionally provoke convulsions in healthy children as…”
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Interstitial deletion of a proximal 3p: A clinically recognisable syndrome by Lalli, Cristina, Galasso, Cinzia, Lo Castro, Adriana, Nardone, Anna Maria, Di Paolo, Ambrogio, Curatolo, Paolo

“…Interstitial deletions of the proximal short arm of chromosome 3 occurring as constitutional aberrations are rare and a defined clinical phenotype is not…”
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Epilepsy and deletion syndromes of chromosome 18: Do not forget the short arm by Cerminara, Caterina, Lo Castro, Adriana, D'Argenzio, Luigi, Galasso, Cinzia, Curatolo, Paolo

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Pharmacotherapy of idiopathic generalized epilepsies by Curatolo, Paolo, Moavero, Romina, Lo Castro, Adriana, Cerminara, Caterina

“…Idiopathic generalized epilepsies (IGE) represent about 20% of all epilepsies, are genetically determined and comprise several subgroups of syndromes. Although…”
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"Idiopathic" mental retardation and new chromosomal abnormalities by Galasso, Cinzia, Lo-Castro, Adriana, El-Malhany, Nadia, Curatolo, Paolo

“…Mental retardation is a heterogeneous condition, affecting 1-3% of general population. In the last few years, several emerging clinical entities have been…”
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Neurologic Aspects of Microcephalic Osteodysplastic Primordial Dwarfism Type II by Galasso, Cinzia, MD, Lo-Castro, Adriana, MD, Lalli, Cristina, MD, Cerminara, Caterina, MD, Curatolo, Paolo, MD

“…Microcephalic osteodysplastic primordial dwarfism type II is a specific disorder characterized by severe intrauterine and postnatal growth retardation,…”
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Mild Wolf-Hirschhorn phenotype in a girl with unbalanced t(4p;12p) translocation without seizures by Galasso, Cinzia, Lo-Castro, Adriana, El-Malhany, Nadia, Zollino, Marcella, Murdolo, Marina, Orteschi, Daniela, Manca Bitti, Maria Luisa, Curatolo, Paolo

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Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome by Hempel, Annmarie, Pagnamenta, Alistair T, Blyth, Moira, Mansour, Sahar, McConnell, Vivienne, Kou, Ikuyo, Ikegawa, Shiro, Tsurusaki, Yoshinori, Matsumoto, Naomichi, Lo-Castro, Adriana, Plessis, Ghislaine, Albrecht, Beate, Battaglia, Agatino, Taylor, Jenny C, Howard, Malcolm F, Keays, David, Sohal, Aman Singh, Kühl, Susanne J, Kini, Usha, McNeill, Alisdair

“…SOX11 is a transcription factor proposed to play a role in brain development. The relevance of SOX11 to human developmental disorders was suggested by a recent…”
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Planning Deficit in Children With Neurofibromatosis Type 1: A Neurocognitive Trait Independent From Attention-Deficit Hyperactivity Disorder (ADHD)? by Galasso, Cinzia, Lo-Castro, Adriana, Di Carlo, Loredana, Pitzianti, Maria Bernarda, D’Agati, Elisa, Curatolo, Paolo, Pasini, Augusto

“…Neurofibromatosis type 1 is associated with executive dysfunctions and comorbidity with attention-deficit hyperactivity disorder (ADHD) in 30% to 50% of…”
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Role of ADHD symptoms as a contributing factor to obesity in patients with MC4R mutations by Porfirio, Maria-Cristina, Giovinazzo, Silvia, Cortese, Samuele, Giana, Grazia, Lo-Castro, Adriana, Mouren, Marie-Christine, Curatolo, Paolo, Purper-Ouakil, Diane

“…Abstract Besides the crucial role of genetic susceptibility in the development of early-onset obesity, it has been shown that feeding behavior could contribute…”
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Sox11 Is Required to Maintain Proper Levels of Hedgehog Signaling during Vertebrate Ocular Morphogenesis: e1004491 by Pillai-Kastoori, Lakshmi, Wen, Wen, Wilson, Stephen G, Strachan, Erin, Lo-Castro, Adriana, Fichera, Marco, Musumeci, Sebastiano A, Lehmann, Ordan J, Morris, Ann C

“…Ocular coloboma is a sight-threatening malformation caused by failure of the choroid fissure to close during morphogenesis of the eye, and is frequently…”
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Deletion 2q37: An Identifiable Clinical Syndrome With Mental Retardation and Autism by Galasso, Cinzia, Lo-Castro, Adriana, Lalli, Cristina, Nardone, Anna Maria, Gullotta, Francesca, Curatolo, Paolo

“…Terminal deletion of the long arm of chromosome 2 is a rare chromosomal disorder characterized by low birth weight, delayed somatic and mental development,…”
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Late-Onset Epileptic Spasms in Children With Pallister-Killian Syndrome: A Report of Two New Cases and Review of the Electroclinical Aspects by Cerminara, Caterina, Compagnone, Eliana, Bagnolo, Valentina, Galasso, Cinzia, Lo-Castro, Adriana, Brinciotti, Mario, Curatolo, Paolo

“…Pallister-Killian syndrome is a rare syndrome of multiple congenital anomalies attributable to the presence of a mosaic supernumerary isochromosome (12p)…”
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