Results 21 to 30 of about 1,300,694 (272)

Imprinting disorders after assisted reproductive technologies

Current Opinion in Obstetrics & Gynecology, 2006
To assess the evidence of an increased risk of imprinting diseases in children born after use of assisted reproductive ...
Andersen, Anders Nyboe, Pinborg, Anja, Lidegaard, Øjvind   +2 more
core   +4 more sources

Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2

Frontiers in Endocrinology, 2023
ObjectiveiPPSD2 (which includes PHP1A and PPHP/POH) is a rare inherited autosomal dominant endocrine disorder caused by inactivating GNAS pathogenic variants. A high percentage of de novo cases has been suggested.
Yerai Vado, Arrate Pereda, Africa Manero-Azua, Spanish Network for Imprinting Disorders, Guiomar Perez de Nanclares   +4 more
doaj   +1 more source

Association between imprinting disorders and assisted reproductive technologies [PDF]

Epigenomics
Masayo Kagami, Aiko Sasaki, Kaori Hara-Isono   +2 more
exaly   +2 more sources

Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?

Frontiers in Cell and Developmental Biology, 2023
Imprinting disorders are congenital diseases caused by dysregulation of genomic imprinting, affecting growth, neurocognitive development, metabolism and cancer predisposition. Overlapping clinical features are often observed among this group of diseases.
Laura Pignata, Francesco Cecere, Fabio Acquaviva, Emilia D’Angelo, Daniela Cioffi, Valeria Pellino, Orazio Palumbo, Pietro Palumbo, Massimo Carella, Angela Sparago, Daniele De Brasi, Flavia Cerrato, Andrea Riccio, Andrea Riccio   +13 more
doaj   +1 more source

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   +1 more source

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., Begemann, M., Mackay, D. J. G., Grønskov, K., Tümer, Z., Maher, E. R., Temple, I. K., Monk, D., RICCIO, Andrea, Linglart, A., Netchine, I., Eggermann, T.   +11 more
openaire   +4 more sources

Role of DNA methylation in imprinting disorders: an updated review [PDF]

Journal of Assisted Reproduction and Genetics, 2017
Amr Rafat Elhamamsy
exaly   +2 more sources

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, Jie Li, Yong Lu, Ling Li, Wei Wang, Chenchen Zhang, Libing Xu, Yanhong Nie, Changshan Gao, Xinyan Bian, Zhen Liu, Guang-Zhong Wang, Qiang Sun   +12 more
doaj   +1 more source

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   +1 more source

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders [PDF]

Epigenetics, 2018
Laura Fontana, Anna Cereda, Alessandro Orro   +2 more
exaly   +2 more sources