Results 11 to 20 of about 18,499 (269)

Multilocus methylation defects in imprinting disorders

Biomolecular Concepts, 2015
Mammals inherit two complete sets of chromosomes, one from the father and one from the mother, and most autosomal genes are expressed from both maternal and paternal alleles. In imprinted genes, the expression of the allele is dependent upon its parental
Mackay Deborah J.G., Eggermann Thomas, Buiting Karin, Garin Intza, Netchine Irène, Linglart Agnès, de Nanclares Guiomar Perez   +6 more
doaj   +6 more sources

Role of ART in Imprinting Disorders [PDF]

Seminars in Reproductive Medicine, 2012
Assisted reproductive technologies (ART) offer revolutionary infertility treatments for millions of childless couples around the world. Currently, ART accounts for 1 to 3% of annual births in industrialized countries and continues to expand rapidly. Except for an increased incidence of premature births, these technologies are considered safe.
Ali Eroglu, Lawrence C Layman
exaly   +5 more sources

The impact of assisted reproductive technologies on genomic imprinting and imprinting disorders. [PDF]

Curr Opin Obstet Gynecol, 2014
Uyar, Asli/0000-0002-7913-1083Purpose of reviewGenomic imprinting refers to preferential allele-specific gene expression. DNA methylation-based molecular mechanisms regulate establishment and maintenance of parental imprints during early embryo ...
Uyar A, Seli E.
europepmc   +5 more sources

Recent Advances in imprinting disorders [PDF]

Clinical Genetics, 2016
Imprinting disorders (ImpDis) are a group of currently twelve congenital diseases with common underlying (epi)genetic aetiologies and overlapping clinical features affecting growth, development and metabolism. In the last years it has emerged that ms are
Monk, David, Eggermann, T., Mackay, D. J. G., Linglart, A, Begemann, Matthias, Riccio, A., Begemann, M., Mackay, Deborah JG, Soellner, L, Linglart, A., Temple, I K, Riccio, Andrea, Soellner, L., Grønskov, K, Netchine, Irène, Monk, D, Soellner, Lukas, Maher, E R, Maher, E. R., Tümer, Z., Karen Temple, I., Eggermann, Thomas, Monk, D., Netchine, I, Riccio, A, Netchine, I., Temple, I. K., Grønskov, Karen, Tümer, Zeynep, Linglart, Agnès, Begemann, M, Tümer, Z, Maher, Eamonn R, Mackay, D J G, Grønskov, K., Eggermann, T   +35 more
core   +5 more sources

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, Zichao Liu, Ruopeng Zhang, Cunmei Su, Wenjuan Yang, Youlin Yao, Shuhua Zhao   +6 more
doaj   +2 more sources

First‐time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions

Molecular Genetics & Genomic Medicine, 2023
Background Beckwith‐Wiedemann syndrome and Silver‐Russel syndrome are two imprinting disorders caused by opposite molecular alterations in 11p15.5. With the current diagnostic tests, their molecular diagnosis is challenging due to molecular heterogeneity
Elia Schlaich, Wouter H. G. Hubens, Thomas Eggermann   +2 more
doaj   +2 more sources

Recent Advances in Imprinting Disorders

NeoReviews, 2017
Genetic imprinting is a biological phenomenon arising from the fact that maternal and paternal contributions to the offspring’s autosomal genes have specific markers or imprints.
Naveed Hussain
core   +2 more sources

Disturbed methylation at multiple imprinted loci : an increasing observation in imprinting disorders

Epigenomics, 2011
The widely accepted association between aberrant methylation at specific imprinted loci and distinct imprinting disorders has recently been brought into question by the identification of methylation defects at multiple loci (multilocus methylation ...
Thomas Eggermann, Eggermann, Thomas, Matthias Begemann, Gerhard Binder, Leisten, Isabelle, Spengler, Sabine, Begemann, Matthias, Isabelle Leisten, Binder, Gerhard, Sabrina Spengler   +9 more
core   +3 more sources

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders. [PDF]

Clin Epigenetics, 2022
BACKGROUND: Imprinting disorders, which affect growth, development, metabolism and neoplasia risk, are caused by genetic or epigenetic changes to genes that are expressed from only one parental allele. Disease may result from changes in coding sequences,
Mackay D, Bliek J, Kagami M, Tenorio-Castano J, Pereda A, Brioude F, Netchine I, Papingi D, de Franco E, Lever M, Sillibourne J, Lombardi P, Gaston V, Tauber M, Diene G, Bieth E, Fernandez L, Nevado J, Tümer Z, Riccio A, Maher ER, Beygo J, Tannorella P, Russo S, de Nanclares GP, Temple IK, Ogata T, Lapunzina P, Eggermann T.   +28 more
europepmc   +2 more sources

Genomic imprinting and human chromosome 15

Biological Research, 2001
Genomic imprinting is a reversible phenomenon that affects the expression of genes depending on their parental origin. The best characterized human disorders resulting from an alteration of the imprinting process are Angelman and Prader-Willi syndromes ...
GABRIELA M. REPETTO
doaj   +3 more sources