Search Results - "D'Abrusco, Fulvio"
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Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing
Published in Cerebellum (London, England) (01-12-2022)“…Joubert syndrome (JS) is a recessively inherited ciliopathy, characterized by a specific cerebellar and brainstem malformation recognizable on brain imaging as…”
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Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome
Published in Cerebellum (London, England) (01-08-2024)“…KBG syndrome is a rare genetic disorder caused by heterozygous pathogenic variants in ANKRD11 . Affected individuals have developmental delay, short stature,…”
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Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders
Published in International journal of molecular sciences (16-06-2022)“…The inositol 1,4,5-triphosphate receptor type 1 (ITPR1) gene encodes an InsP3-gated calcium channel that modulates intracellular Ca2+ release and is…”
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Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome
Published in European journal of human genetics : EJHG (11-10-2024)“…Joubert syndrome (JS) is a genetically heterogeneous neurodevelopmental ciliopathy. Despite exome sequencing (ES), several patients remain undiagnosed. This…”
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SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
Published in Journal of medical genetics (01-09-2022)“…Joubert syndrome (JS) is a recessively inherited ciliopathy characterised by congenital ocular motor apraxia (COMA), developmental delay (DD), intellectual…”
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Visual function in children with Joubert syndrome
Published in Developmental medicine and child neurology (01-03-2024)“…Aim To describe visual function in children with Joubert syndrome and to investigate its possible association with diagnostic and developmental aspects. Method…”
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Cerebellar heterotopia in an 11‐year‐old child with KDM6B‐related neurodevelopmental disorder: A case report and review of the literature
Published in American journal of medical genetics. Part A (01-06-2024)“…Heterozygous pathogenic variants in KDM6B have recently been associated to a rare neurodevelopmental disorder referred to as “Neurodevelopmental disorder with…”
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Expanding the natural history of CASK‐related disorders to the prenatal period
Published in Developmental medicine and child neurology (01-04-2023)“…Aim To assess whether microcephaly with pontine and cerebellar hypoplasia (MICPCH) could manifest in the prenatal period in patients with…”
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