Results 31 to 40 of about 3,137,340 (284)

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. [PDF]

Eur J Hum Genet, 2019
Yakoreva M, Kahre T, Žordania R, Reinson K, Teek R, Tillmann V, Peet A, Õiglane-Shlik E, Pajusalu S, Murumets Ü, Vals MA, Mee P, Wojcik MH, Õunap K.   +13 more
europepmc   +2 more sources

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

J Assist Reprod Genet, 2017
Elhamamsy AR.
europepmc   +2 more sources

Comprehensive meta-analysis reveals association between multiple imprinting disorders and conception by assisted reproductive technology. [PDF]

J Assist Reprod Genet, 2018
Cortessis VK, Azadian M, Buxbaum J, Sanogo F, Song AY, Sriprasert I, Wei PC, Yu J, Chung K, Siegmund KD.   +9 more
europepmc   +2 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

An Update on Molecular Diagnostic Testing of Human Imprinting Disorders. [PDF]

J Pediatr Genet, 2017
Grafodatskaya D, Choufani S, Basran R, Weksberg R.   +3 more
europepmc   +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

Imprinting Disorders and Assisted Reproductive Technology [PDF]

Seminars in Reproductive Medicine, 2009
Worldwide use of assisted reproductive technology (ART) accounts for an estimated 1 to 3% of births. Since 2002, a series of reports have suggested an increased risk of imprinting disorders (Beckwith-Wiedemann syndrome and Angelman syndrome) in children conceived by ART.
Carter M, Owen, James H, Segars
openaire   +5 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

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, Stella K Hur, Federica Maria Valente, Folami Y Ideraabdullah, Angela Sparago, Maria Teresa Gentile, Andrea Oneglia, Diego Di Nucci, Luca Colucci-D'Amato, Joanne L Thorvaldsen, Marisa S Bartolomei, Andrea Riccio, Flavia Cerrato   +12 more
doaj   +1 more source