Articles with "genetic syndromes" as a keyword



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Multiple Genetic Syndromes Recognition Based on a Deep Learning Framework and Cross-Loss Training

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Published in 2022 at "IEEE Access"

DOI: 10.1109/access.2022.3218160

Abstract: Many patients with genetic syndromes have special facial features, which boast significant potential value for clinical diagnosis. Deep learning and computer vision technology can be employed to diagnose genetic diseases by analyzing facial features of… read more here.

Keywords: genetic syndromes; genetic diseases; multiple genetic; framework ... See more keywords
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Abstract 16828: Risk of Hematopoietic Cancer in Congenital Heart Diseased Children With or Without Genetic Syndromes

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Published in 2020 at "Circulation"

DOI: 10.1161/circ.142.suppl_3.16828

Abstract: Background: Individuals with genetic syndromes can manifest both congenital heart disease (CHD) and cancer due to possible common underlying pathways. However, reliable risk estimates of hematopoietic cancer (HC) among children with CHD based on large… read more here.

Keywords: genetic syndromes; congenital heart; cancer; risk ... See more keywords
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Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism

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Published in 2018 at "Orphanet Journal of Rare Diseases"

DOI: 10.1186/s13023-018-0924-1

Abstract: BackgroundIt is well documented that mothers of children with intellectual disabilities or autism experience elevated stress, with mental health compromised. However, comparatively little is known about mothers of children with rare genetic syndromes. This study… read more here.

Keywords: methodology; genetic syndromes; mothers children; children autism ... See more keywords
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Ajak- és szájpadhasadékkal társult genetikai szindrómás gyermekek komplex ellátása.

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Published in 2022 at "Orvosi hetilap"

DOI: 10.1556/650.2022.32500

Abstract: INTRODUCTION The majority of facial clefts are isolated developmental anomalies. In a minority of the cases, however, facial clefts may occur as part of particular genetic syndromes. OBJECTIVE We aimed to analyse the treatment of… read more here.

Keywords: genetic syndromes; jpadhasad kkal; kkal rsult; ajak jpadhasad ... See more keywords
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Hashimoto’s Thyroiditis and Graves’ Disease in Genetic Syndromes in Pediatric Age

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Published in 2021 at "Genes"

DOI: 10.3390/genes12020222

Abstract: Autoimmune thyroid diseases (AITDs), including Hashimoto’s thyroiditis (HT) and Graves’ disease (GD), are the most common cause of acquired thyroid disorder during childhood and adolescence. Our purpose was to assess the main features of AITDs… read more here.

Keywords: disease genetic; genetic syndromes; thyroiditis graves; hashimoto thyroiditis ... See more keywords
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Autoimmunity and Genetic Syndromes: A Focus on Down Syndrome

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Published in 2021 at "Genes"

DOI: 10.3390/genes12020268

Abstract: Within immune system-related diseases, autoimmunity has always represented a field of great interest, although many aspects remain poorly understood even today. Genetic syndromes associated with immunity disorders are common and represent an interesting model for… read more here.

Keywords: genetic syndromes; etiology; autoimmunity; autoimmunity genetic ... See more keywords
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Electrophysiological and Behavioral Evidence for Hyper- and Hyposensitivity in Rare Genetic Syndromes Associated with Autism

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Published in 2022 at "Genes"

DOI: 10.3390/genes13040671

Abstract: Our study reviewed abnormalities in spontaneous, as well as event-related, brain activity in syndromes with a known genetic underpinning that are associated with autistic symptomatology. Based on behavioral and neurophysiological evidence, we tentatively subdivided the… read more here.

Keywords: genetic syndromes; behavioral evidence; evidence hyper; electrophysiological behavioral ... See more keywords