Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.
Sign Up to like & getrecommendations! Published in 2022 at "JAMA network open"
DOI: 10.1001/jamanetworkopen.2021.41911
Abstract: Importance Newborn screening for Angelman syndrome (AS), Prader-Willi syndrome (PWS), and chromosome 15 duplication syndrome (Dup15q) may lead to benefit from early diagnosis and treatment. Objective To examine the feasibility of newborn screening for these… read more here.
Keywords: pws; imprinting disorders; chromosome imprinting; data set ... See more keywords
Germline Epigenetic Testing of Imprinting Disorders in a Diagnostic Setting
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Epigenetics"
DOI: 10.1007/978-981-13-8958-0_9
Abstract: Imprinting disorders are complex and ideally require diagnostic testing in a specialized laboratory. The testing laboratory must have a thorough understanding of the disease biology and testing platform limitations. As the biological basis for these… read more here.
Keywords: imprinting disorders; epigenetic testing; diagnostic setting; testing imprinting ... See more keywords
Detection of a case of Angelman syndrome caused by an imprinting error in 949 pregnancies analyzed for AS following IVF
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Assisted Reproduction and Genetics"
DOI: 10.1007/s10815-018-1161-1
Abstract: In vitro fertilization (IVF) is now responsible for achieving 1– 2% of US pregnancies and subsequent births (www.cdc.gov/art). A number of factors have led to the steady increase in IVF, including increasing rates of infertility… read more here.
Keywords: risk; imprinting disorders; case; angelman syndrome ... See more keywords
Human imprinting disorders: Principles, practice, problems and progress.
Sign Up to like & getrecommendations! Published in 2017 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.08.014
Abstract: Epigenetic regulation orchestrates gene expression with exquisite precision, over a huge dynamic range and across developmental space and time, permitting genomically-homogeneous humans to develop and adapt to their surroundings. Every generation, these epigenetic marks are… read more here.
Keywords: problems progress; imprinting disorders; principles practice; human imprinting ... See more keywords
Imprinting disorders in children born after ART: a Nordic study from the CoNARTaS group.
Sign Up to like & getrecommendations! Published in 2020 at "Human reproduction"
DOI: 10.1093/humrep/deaa039
Abstract: STUDY QUESTION Is the risk of imprinting disorders increased in children conceived after ART? SUMMARY ANSWER We found an adjusted odds ratio (AOR) of 2.84 [95% CI: 1.34-6.01] for Beckwith-Wiedemann syndrome in ART children, while… read more here.
Keywords: imprinting disorders; conceived art; art children; children conceived ... See more keywords
Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network
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DOI: 10.3390/genes12040585
Abstract: Intrauterine and postnatal growth disturbances are major clinical features of imprinting disorders, a molecularly defined group of congenital syndromes caused by molecular alterations affecting parentally imprinted genes. These genes are expressed monoallelically and in a… read more here.
Keywords: restriction genomic; growth restriction; imprinting disorders; genomic imprinting ... See more keywords
Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders: Characterization of Basic Mechanisms to Improve Clinical Management
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms20174219
Abstract: Silver–Russell and Beckwith–Wiedemann syndromes (SRS, BWS) are rare congenital human disorders characterized by opposite growth disturbances. With the increasing knowledge on the molecular basis of SRS and BWS, it has become obvious that the disorders… read more here.
Keywords: srs bws; molecular clinical; imprinting disorders; clinical opposite ... See more keywords