Search Results - "MILITERNI, Roberto"
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A Genetic Variant That Disrupts MET Transcription Is Associated with Autism
Published in Proceedings of the National Academy of Sciences - PNAS (07-11-2006)“…There is strong evidence for a genetic predisposition to autism and an intense interest in discovering heritable risk factors that disrupt gene function. Based…”
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Being adults with cerebral palsy: results of a multicenter Italian study on quality of life and participation
Published in Neurological sciences (01-11-2021)“…Cerebral palsy (CP) is still the most common cause of disability developing in infancy. How such a complex disorder affects adult life raises important…”
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Pediatric selective mutism therapy: a randomized controlled trial
Published in European journal of physical and rehabilitation medicine (01-10-2017)“…Selective mutism (SM) is a rare disease in children coded by DSM-5 as an anxiety disorder. Despite the disabling nature of the disease, there is still no…”
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Principal pathogenetic components and biological endophenotypes in autism spectrum disorders
Published in Autism research (01-10-2010)“…Autism is a complex neurodevelopmental disorder, likely encompassing multiple pathogenetic components. The aim of this study is to begin identifying at least…”
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Impact of malnutrition on gastrointestinal disorders and gross motor abilities in children with cerebral palsy
Published in Brain & development (Tokyo. 1979) (2007)“…Children with cerebral palsy (CP) often demonstrate abnormal feeding behaviours, leading to reduced food consumption and malnutrition. Moreover, most of them…”
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Case-control and family-based association studies of candidate genes in autistic disorder and its endophenotypes: TPH2 and GLO1
Published in BMC medical genetics (08-03-2007)“…The TPH2 gene encodes the enzyme responsible for serotonin (5-HT) synthesis in the Central Nervous System (CNS). Stereotypic and repetitive behaviors are…”
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Effect of different starting doses of levothyroxine on growth and intellectual outcome at four years of age in congenital hypothyroidism
Published in Thyroid (New York, N.Y.) (01-01-2002)“…To evaluate the effect of different initial levothyroxine (LT4) replacement doses on growth and intellectual outcome in patients with congenital hypothyroidism…”
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Candidate gene study of HOXB1 in autism spectrum disorder
Published in Molecular autism (25-05-2010)“…HOXB1 plays a major role in brainstem morphogenesis and could partly determine the cranial circumference in conjunction with HOXA1. In our sample, HOXA1…”
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Alterations of the Intestinal Barrier in Patients With Autism Spectrum Disorders and in Their First‐degree Relatives
Published in Journal of pediatric gastroenterology and nutrition (01-10-2010)“…ABSTRACT Objectives: Intestinal permeability (IPT) was investigated in patients with autism as well as in their first‐degree relatives to investigate leaky gut…”
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Etiopathogenesis of autism spectrum disorders: Fitting the pieces of the puzzle together
Published in Medical hypotheses (01-07-2013)“…Abstract Autism spectrum disorders (ASD) are disorders of the central nervous system characterized by impairments in communication and social reciprocity…”
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The “senses” of autism. Towards a new paradigm in didactics
Published in Form@re (01-07-2017)“…Recent studies have proposed a paradigm shift in the interpretation of Autism Spectrum Disorders prompting a reflection on educational intervention models that…”
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Clinical, Morphological, and Biochemical Correlates of Head Circumference in Autism
Published in Biological psychiatry (1969) (01-11-2007)“…Background Head growth rates are often accelerated in autism. This study is aimed at defining the clinical, morphological, and biochemical correlates of head…”
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Recommendations for the rehabilitation of children with cerebral palsy
Published in European journal of physical and rehabilitation medicine (01-10-2016)“…The SINPIA-SIMFER (Italian Society of Child and Adolescent Neuropsychiatry - Italian Society of Physical Medicine and Rehabilitation) Intersociety Commission…”
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Family-based association study of ITGB3 in autism spectrum disorder and its endophenotypes
Published in European journal of human genetics : EJHG (01-03-2011)“…The integrin-β 3 gene (ITGB3), located on human chromosome 17q21.3, was previously identified as a quantitative trait locus (QTL) for 5-HT blood levels and has…”
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A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys
Published in American journal of medical genetics. Part A (01-04-2008)“…Attention deficit hyperactivity disorder (ADHD) is a frequent behavioral problem in young boys with fragile X syndrome (FXS), and its treatment is critical for…”
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Repetitive behaviors in autistic disorder
Published in European child & adolescent psychiatry (01-10-2002)“…Repetitive behaviors are common in autistic disorder, as in other developmental disabilities. Behaviors as diverse as stereotypies, cognitive inflexibility,…”
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The “senses” of autism. Towards a new paradigm in didactics
Published in Form@re (01-04-2017)“…Recent studies have proposed a paradigm shift in the interpretation of Autism Spectrum Disorders prompting a reflection on educational intervention models that…”
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Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism
Published in Biological psychiatry (1969) (15-02-2004)“…The HOXA1 gene plays a major role in brainstem and cranial morphogenesis. The G allele of the HOXA1 A218G polymorphism has been previously found associated…”
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HOXA1 gene variants influence head growth rates in humans
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05-04-2007)“…We previously described a significant association between the HOXA1 G218 allele and increased head circumference in autism [Conciatori et al. (2004); Biol…”
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No evidence for association between dyslexia and DYX1C1 functional variants in a group of children and adolescents from Southern Italy
Published in Journal of molecular neuroscience (01-01-2005)“…Recently, DYX1C1, a candidate gene for developmental dyslexia, encoding a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain, has…”
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