Results 21 to 30 of about 17,518 (240)
Recent Advances in Imprinting Disorders [PDF]
Clinical Genetics, 2016 Imprinting disorders (ImpDis) are a group of currently 12 congenital diseases with common underlying (epi)genetic etiologies and overlapping clinical features affecting growth, development and metabolism. In the last years it has emerged that ImpDis are characterized by the same types of mutations and epimutations, i.e.
Soellner, L. +11 more
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Role of DNA methylation in imprinting disorders: an updated review [PDF]
Journal of Assisted Reproduction and Genetics, 2017 Amr Elhamamsy
exaly +2 more sources
Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice. [PDF]
PLoS Genetics, 2018 Differential DNA methylation defects of H19/IGF2 are associated with congenital growth disorders characterized by opposite clinical pictures. Due to structural differences between human and mouse, the mechanisms by which mutations of the H19/IGF2 ...
Andrea Freschi +12 more
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Cynomolgus-rhesus hybrid macaques serve as a platform for imprinting studies
The Innovation, 2023 Genomic imprinting can lead to allele-specific expression (ASE), where one allele is preferentially expressed more than the other. Perturbations in genomic imprinting or ASE genes have been widely observed across various neurological disorders, notably ...
Zongyang Lu +12 more
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Imprinting alterations in sperm may not significantly influence ART outcomes and imprinting patterns in the cord blood of offspring. [PDF]
PLoS ONE, 2017 An increase in imprinting disorders in children conceived though assisted reproductive technologies (ARTs) has been the subject of several reports. The transmission of imprinting errors from the sperm of infertile fathers is believed to be a possible ...
Li Tang +6 more
doaj +1 more source
Syndromic Disorders Caused by Disturbed Human Imprinting
JCRPE, 2020 Imprinting disorders are a group of congenital diseases caused by dysregulation of genomic imprinting, affecting prenatal and postnatal growth, neurocognitive development, metabolism and cancer predisposition.
Diana Carli +3 more
doaj +1 more source
What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis
BMC Medical Genetics, 2018 Background Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright’s hereditary osteodystrophy (AHO) phenotype, which is ...
Arrate Pereda +3 more
doaj +1 more source
Prenatal testing for imprinting disorders: A laboratory perspective
Prenatal Diagnosis, 2023 AbstractImprinting Disorders (ImpDis) are a group of congenital syndromes associated with up to four different types of molecular disturbances affecting the monoallelic and parent‐of‐origin specific expression of genomically imprinted genes. Though each ImpDis is characterized by aberrations at a distinct genetic site and a specific set of postnatal ...
Jasmin Beygo +6 more
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The importance of imprinting in the human placenta. [PDF]
PLoS Genetics, 2010 As a field of study, genomic imprinting has grown rapidly in the last 20 years, with a growing figure of around 100 imprinted genes known in the mouse and approximately 50 in the human. The imprinted expression of genes may be transient and highly tissue-
Jennifer M Frost, Gudrun E Moore
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Imprinting disorders and assisted reproductive technology [PDF]
Current Opinion in Endocrinology, Diabetes & Obesity, 2010 To summarize current evidence in the association of imprinting disorders and assisted reproductive technology.The worldwide usage of assisted reproductive technology (ART) has continued to increase since the first successful birth of a human after IVF. Since 2002, several reports have raised concerns that children conceived by ART are at increased risk
Lawrence N, Odom, James, Segars
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