about
Disruptive CHD8 mutations define a subtype of autism early in developmentA SWI/SNF-related autism syndrome caused by de novo mutations in ADNPRecurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypesInterstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndromeMolecular analysis of aldolase B genes in hereditary fructose intoleranceMutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt SignalingThe 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.Inflammatory bowel disease in children and adolescents in Italy: data from the pediatric national IBD register (1996-2003).Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome.A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.Relative burden of large CNVs on a range of neurodevelopmental phenotypes.Refining analyses of copy number variation identifies specific genes associated with developmental delayThe transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cellsAssessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDFurther delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.The molecular landscape of ASPM mutations in primary microcephaly.Phenotypic and phoniatric findings in mosaic cri du chat syndrome.Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions.Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.A de novo 8q22.2-24.3 duplication in a patient with mild phenotype.The Methylenetetrahydrofolate Reductase C677T Polymorphism and Risk for Late-Onset Alzheimer's disease: Further Evidence in an Italian Multicenter Study.Low AMH levels as a marker of reduced ovarian reserve in young women affected by Down's syndrome.Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases.Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis.6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies.Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
P50
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P50
description
hulumtues
@sq
onderzoeker
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researcher
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հետազոտող
@hy
name
Corrado Romano
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Corrado Romano
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Corrado Romano
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Corrado Romano
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Corrado Romano
@sl
type
label
Corrado Romano
@ast
Corrado Romano
@en
Corrado Romano
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Corrado Romano
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Corrado Romano
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prefLabel
Corrado Romano
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Corrado Romano
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Corrado Romano
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Corrado Romano
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Corrado Romano
@sl
P1053
B-9695-2008
P106
P1153
55143187900
P21
P2798
P31
P3829
P496
0000-0003-1049-0683