Results 41 to 50 of about 1,300,694 (272)

Molecular testing for imprinting disorders [PDF]

Medizinische Genetik, 2020
AbstractImprinting disorders are a group of rare diseases with a broad phenotypic spectrum caused by a wide variety of genetic and epigenetic disturbances of imprinted genes or gene clusters. The molecular genetic causes and their respective frequencies vary between the different imprinting disorders so that each has its unique requirements for the ...
Beygo, Jasmin, Kanber, Deniz, Eggermann, Thomas, Begemann, Matthias   +3 more
openaire   +2 more sources

Sexual imprinting as a two-stage process: mechanisms of information storage and stabilization [PDF]

, 1995
Oetting S, Proeve E, Bischof H-J. Sexual imprinting as a two-stage process: mechanisms of information storage and stabilization. Animal Behaviour. 1995;50(2):393-403.Sexual imprinting occurs in two stages, an acquisition phase when the birds learn about ...
Proeve, Ekkehard, Oetting, Sabine, Bischof, Hans-Joachim   +2 more
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Imprinting and its disorders in evolutionary perspective

Acta Medica Lituanica, 2014
Bacground. Genomic imprinting is one of the best-studied epigenetic phenomena involving all the main epigenetic processes. Recent investigations led to a huge expansion of knowledge in this field and changed some established paradigms regarding ...
Birutė Tumienė, Algirdas Utkus, Vaidutis Kučinskas   +2 more
doaj   +1 more source

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
doaj   +1 more source

Tissue-specific and minor inter-individual variation in imprinting of IGF2R is a common feature of Bos taurus concepti and not correlated with fetal weight [PDF]

, 2013
The insulin-like growth factor 2 receptor (IGF2R) is essential for prenatal growth regulation and shows gene dosage effects on fetal weight that can be affected by in-vitro embryo culture.
Eckhard Wolf, Horst-Dieter Reichenbach, Ivica Medugorac, Reichenbach Myriam, Stefan Hiendleder (103381), Susanne E. Ulbrich (116395), Hiendleder Stefan, Ulbrich, S., Stefan Hiendleder, Fürst, Rainer W, Bebbere, D., Daniela Bebbere (400357), Horst-Dieter Reichenbach (212841), Wolf Eckhard, Rainer W. Fürst (385591), Ulbrich, Susanne E., Reichenbach, M., Reichenbach, H., Reichenbach Horst-Dieter, Bauersachs, Stefan, Wolf, E., Fürst, Rainer W., Ulbrich, Susanne E, Rainer W Fürst, Eckhard Wolf (39870), Reichenbach, Myriam, Bebbere Daniela, Furst, R., Stefan Bauersachs (130224), Hiendleder, S., Bauersachs Stefan, Susanne E Ulbrich, Sergio Ledda (400358), Reichenbach, Horst-Dieter, Myriam Reichenbach, Myriam Reichenbach (212830), Medugorac, I., Medugorac Ivica, Stefan Bauersachs, Hiendleder, Stefan, Bebbere, Daniela, Bauersachs, S., Ledda Sergio, Sergio Ledda, Ledda, S., Ivica Medugorac (157507), Wolf, Eckhard, Fürst Rainer W., Medugorac, Ivica, Ledda, Sergio, Daniela Bebbere, Ulbrich Susanne E.   +51 more
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Deciphering the genetic and epigenetic basis of human imprinting and chromatin disorders [PDF]

, 2023
Aberrant DNA methylation patterns, including disturbances in genomic imprinting, have been linked to congenital imprinting disorders as well as various disease conditions, including cancer, chromatin disorders, and neurodevelopmental disorders.

core   +2 more sources

Genomic imprinting defects in the growth disorder Beckwith-Wiedemann syndrome [PDF]

, 2009
The imprinting control region (IC1) of the human IGF2 and H19 genes is represented by a chromatin insulator located between the two genes that prevents the activation of IGF2 and allows the activation of H19 on the maternal chromosome. Deletions removing
Citro, Valentina
core   +1 more source

Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome

Disease Models & Mechanisms, 2020
Genomic imprinting, a phenomenon in which the two parental alleles are regulated differently, is observed in mammals, marsupials and a few other species, including seed-bearing plants. Dysregulation of genomic imprinting can cause developmental disorders
Suhee Chang, Marisa S. Bartolomei
doaj   +1 more source

Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains

Epigenetics, 2018
The analysis of DNA methylation has become routine in the pipeline for diagnosis of imprinting disorders, with many publications reporting aberrant methylation associated with imprinted differentially methylated regions (DMRs).
David Monk, Joannella Morales, Johan T. den Dunnen, Silvia Russo, Franck Court, Dirk Prawitt, Thomas Eggermann, Jasmin Beygo, Karin Buiting, Zeynep Tümer, the Nomenclature group of the European Network for Human Congenital Imprinting Disorders   +10 more
doaj   +1 more source

Pragmatic disorders and their social impact [PDF]

, 2011
Pragmatic disorders in children and adults have been the focus of clinical investigations for approximately 40 years. In that time, clinicians and researchers have established a diverse range of pragmatic phenomena that are disrupted in these disorders ...
Louise Cummings, Cummings, L
core   +1 more source