Search Results - "LARIZZA, Daniela"
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Small supernumerary marker chromosomes: A legacy of trisomy rescue?
Published in Human mutation (01-02-2019)“…We studied by a whole genomic approach and trios genotyping, 12 de novo, nonrecurrent small supernumerary marker chromosomes (sSMC), detected as mosaics during…”
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2
Gender Differences at the Onset of Autoimmune Thyroid Diseases in Children and Adolescents
Published in Frontiers in endocrinology (Lausanne) (17-04-2020)“…The incidence of autoimmune thyroid diseases (ATD) may vary with the beginning of reproductive function, although few reports differentiate the incidence…”
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3
Evaluation of Allostatic Load as a Marker of Chronic Stress in Children and the Importance of Excess Weight
Published in Frontiers in pediatrics (07-08-2019)“…Allostatic load (AL) refers to the physiological response associated with the burden of chronic stress. Excessive weight is an important source of…”
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4
Noninvasive assessment of liver steatosis in children: the clinical value of controlled attenuation parameter
Published in BMC gastroenterology (04-05-2017)“…To assess the clinical validity of controlled attenuation parameter (CAP) in the diagnosis of hepatic steatosis in a series of overweight or obese children by…”
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5
Smoke exposure and cardio-metabolic profile in youth with type 1 diabetes
Published in Diabetology and metabolic syndrome (06-07-2018)“…To evaluate the relationship between smoking and metabolic parameters in patients affected by type 1 diabetes (T1D). We enrolled 104 children and young adults…”
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6
Olfactory Receptor–Gene Clusters, Genomic-Inversion Polymorphisms, and Common Chromosome Rearrangements
Published in American journal of human genetics (01-04-2001)“…The olfactory receptor (OR)–gene superfamily is the largest in the mammalian genome. Several of the human OR genes appear in clusters with ⩾10 members located…”
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7
Omitting duodenal biopsy in children with suspected celiac disease and extra-intestinal symptoms
Published in Italian journal of pediatrics (15-07-2017)“…The aim of our study is to evaluate if in children with highly positive serology and HLA-DQ2/DQ8 (triple test, TT) and only extra-intestinal symptoms, it is…”
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8
New Case of 4H Syndrome and a Review of the Literature
Published in Pediatric neurology (01-05-2010)“…Different pathologic processes (especially demyelination, hypomyelination, and combinations of these) may underlie leukoencephalopathies. Leukoencephalopathies…”
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9
Music benefits on postoperative distress and pain in pediatric day care surgery
Published in Pediatric reports (29-09-2014)“…Postoperative effect of music listening has not been established in pediatric age. Response on postoperative distress and pain in pediatric day care surgery…”
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10
Variations of the Perforin Gene in Patients With Type 1 Diabetes
Published in Diabetes (New York, N.Y.) (01-04-2008)“…Variations of the Perforin Gene in Patients With Type 1 Diabetes Elisabetta Orilieri 1 , Giuseppe Cappellano 1 , Rita Clementi 1 , Angela Cometa 2 , Massimo…”
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11
Prospective Evaluation of Aortic Dimensions in Turner Syndrome: A 2-Dimensional Echocardiographic Study
Published in Journal of the American Society of Echocardiography (01-03-2007)“…Background The prevalence of aortic disease, including dilatation of the proximal aorta, is higher in patients with Turner syndrome (TS) compared with healthy…”
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12
Aortic dimensions in Turnerʼs syndrome: two-dimensional echocardiography versus magnetic resonance imaging
Published in Journal of cardiovascular medicine (Hagerstown, Md.) (01-06-2007)“…BACKGROUNDPatients with Turnerʼs syndrome have an increased risk of cardiac death caused by aortic disease. Consensus has not been reached about the best…”
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13
Central precocious puberty and granulosa cell ovarian tumor in an 8-year old female
Published in Pediatric reports (29-07-2013)“…Ovarian tumors associated with hormonal changes of the peripheral iso-sexual precocious puberty are of common presentation. We describe here a rare case of…”
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14
Growth Hormone Deficiency in a Patient with Becker Muscular Dystrophy : A Pediatric Case Report
Published in Case reports in endocrinology (01-01-2013)“…Objective. To describe a biochemical growth hormone (GH) deficiency and to evaluate therapeutic result in a six-year-old male with Becker muscular dystrophy…”
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15
A frequent oligogenic involvement in congenital hypothyroidism
Published in Human molecular genetics (01-07-2017)“…Congenital hypothyroidism (CH), the most frequent form of preventable mental retardation, is predicted to have a relevant genetic origin. However, CH is…”
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16
Rapid progressive central precocious puberty: diagnostic and predictive value of basal sex hormone levels and pelvic ultrasound
Published in Journal of pediatric endocrinology & metabolism : JPEM (22-05-2020)“…Objectives Data on the predictive values of parameters included in the diagnostic work-up for precocious puberty (PP) remain limited. We detected the…”
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17
Autoimmune Thyroid Diseases in Children and Adolescents with Maturity Onset Diabetes of the Young Type 2
Published in Hormone research in paediatrics (01-12-2019)“…The relationship between type 1 diabetes mellitus (T1DM) and autoimmune thyropathies is well known and has been described in the literature. Based on present…”
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18
GCK-MODY and obesity: symptom overlap makes diagnosis difficult
Published in Acta diabetologica (01-05-2020)Get full text
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19
Autoimmune stigmata in Turner syndrome: When lacks an X chromosome
Published in Journal of autoimmunity (01-08-2009)“…Abstract An increased frequency of autoimmune diseases as well as an elevated incidence of autoantibodies has been observed in patients with Turner syndrome;…”
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20
Improved metabolic and cardiorespiratory fitness during a recreational training program in obese children
Published in Journal of pediatric endocrinology & metabolism : JPEM (2013)“…Physical activity may protect from the adverse effects of obesity. In obese children, an increased adherence and a decreased drop-out rate during exercise…”
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