ESPE Abstracts

ESPE Abstracts

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hrp0084p3-589 | Adrenals | ESPE2015

Deletion Mapping in Xp21 for a Family with Complex Glycerol Kinase Deficiency Using Array-Based Comparative Genomic Hybridisation

Zheng Zhangqian , Luo Feihong , Wu Bingbing , Zhang Miaoying

Aims: Complex glycerol kinase deficiency is caused by partial deletion of Xp21, which includes the genes responsible for glycerol kinase deficiency, adrenal hypoplasia congenita, Duchenne muscular dystrophy and intellectual disability. There are no definite dysmorphic features for this syndrome. The diagnosis is based on clinical and laboratory findings. Usually the first and most severe are the signs of adrenal hypoplasia, which, if not cured, may lead to death in a short tim...
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hrp0092na2 | Genomic Imprinting Analysis in Clinical Practice | ESPE2019

Genomic Imprinting Analysis in Clinical Practice

Mackay Deborah

Genomic imprints in humans are epigenetic marks inscribed upon our genomes from the earliest stages of our development, forming a permanent memory of our parental origin. Approximately 1% of human genes are imprinted, with expression that is permanently restricted to either the paternal or the maternal DNA. Genetic or epigenetic errors of imprinting cause a range of imprinting disorders, each with distinctive effects upon growth, development, metabolism and behaviour.<...
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hrp0086pl4 | Genomic imprinting and evolution | ESPE2016

“Genomic Imprinting and Evolution”

Feil Robert

Genomic imprinting in mammals is controlled by DNA methylation. This essential epigenetic phenomenon mediates the mono-allelic expression of about hundred autosomal protein-coding genes and hundreds of regulatory non-coding RNAs, such that these become expressed from one of the two parental alleles only. Although the first imprinted genes were discovered less than thirty years ago, given their key roles in fetal development, homeostasis and brain functions, these exceptional g...
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hrp0084nt2 | Next Generation Sequencing: Implementing the 100,000 genome project for treatment of NHS patients Saturday, 3 October | ESPE2015

Next Generation Sequencing: Implementing the 100,000 genome project for treatment of NHS patients

Abstract unavailable....
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hrp0084fc1.1 | Adrenal | ESPE2015

A Genomic Atlas of Human Gonad and Adrenal Development

Duncan Andrew , Buoncore Federica , Lin Lin , Barenco Martino , Hubank Mike , Gerrelli Dianne , Achermann John

Background: The adrenal glands and gonads develop from an area of intermediate mesoderm between 6 and 10 weeks post conception (wpc) in humans. Elucidating the genomic components and pathways in these processes could reveal novel aspects of human developmental biology and new factors implicated in adrenal insufficiency and DSD.Objective and hypotheses: To develop a unique genomic atlas of adrenal and gonad development during critical stages of human embr...
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hrp0086fc8.2 | Growth: Clinical | ESPE2016

Whole Exome Sequencing can Identify Defects not Detected by Candidate Gene Sequencing in Patients with Short Stature and Features of Growth Hormone Insensitivity (GHI)

Shapiro Lucy , Savage Martin , Davies Kate , Metherell Lou , Storr Helen

Background: GH insensitivity (GHI) encompasses growth failure, low serum IGF-1 and normal/elevated serum growth hormone (GH) (basal level >5 μg/L and/or peak on provocation testing >10 μg/L). In a significant number of children the molecular cause is unknown.Objective: To investigate the genetic etiology of GHI in a cohort of children by candidate gene (CGS) and whole exome (WES) sequencing.Methods: About 109 pati...
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hrp0092t6 | Top 20 Poster | ESPE2019

Obesity in Pediatric Age: The Analysis of Genomic Rearrangements

Filomena Madeo Simona , Ciancia Silvia , Leo Francesco , Bruzzi Patrizia , Predieri Barbara , Stanghellini Ilaria , Calabrese Olga , Iughetti Lorenzo

Childhood obesity became a global plague: 9% of Italian children (17% of USA children) is obese and 21% is overweight. Nowadays only a small number of obese children undergoes genetic analysis, usually when obesity is associated with dysmorphic features. Our purpose was to identify genomic rearrangement causing obesity: we analyzed the DNA of 52 children by array-CGH (platform CytoScan-HD, Affymetrix). Patients included in our study were 29 males (55,8%) and 23...
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hrp0086pl2 | Recent stories on the genetics of adrenal hyperfunction and tumors | ESPE2016

Recent Advances in the Genetics of Adrenal Hyperfunction and Tumours

Bertherat Jerome

There is a variety of unilateral adrenocortical tumors (ACT) and bilateral nodular adrenal hyperplasias that can be responsible for Cushing’ syndrome. Before puberty the most frequent are adrenocortical cancer (ACC) or micronodular adrenocortical hyperplasia (MiAH). The most classic form of MiAH is primary pigmented nodular adrenocortical dysplasia (PPNAD), diagnosed in more than two-third of Carney Complex patients. In adults adrenocortical adenomas (ACA) and primary bil...
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hrp0086p1-p827 | Syndromes: Mechanisms and Management P1 | ESPE2016

OSBPL5 Methylation Abnormalities may be Pathogenic in Silver Russell Syndrome Through Genomic Methylation Analysis

Wu Di , Gong Chunxiu , Su Chang , Cao Bingyan

Background: SRS is a typical epigenetic disease. Approximately 40% of patients can not be detected genetic and epigenetic disturbances.Objective and hypotheses: To analysis whether there is unknown genes or imprinted genes associated with pathogenicity of SRS and to detect the fine mapping SRS hypomethylation position through the Illumina Methylation 450K chip to detect genome-wide methylation differences.Method: To detect genome-w...
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hrp0097fc9.4 | Diabetes and insulin 2 | ESPE2023

The high proportion of INS-MODY in Chinese children with MODY

Ding Yu , Zhang Qianwen , Li Niu , Chang Guoying , Li Juan , Chen Yao , Yao Ru-en , Yu Tingting , Wang Xiumin

Background: The incidence rate of maturity onset diabetes of the young (MODY) and the proportion of different types of MODY will be different in different countries and races. GCK, HNF1A, and HNF4A are the three most common types of MODY, but the occurrence of other rare MODY subtypes in Chinese children is unknown. Therefore, studying the case group of MODY in Chinese children can help deepen understanding of MODY, early identification, and precise treatment....
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