Prenatal diagnosis of hypomethylation at KvDMR1 and Beckwith–Wiedemann syndrome in a pregnancy conceived by intracytoplasmic sperm injection and in vitro fertilization and embryo t...

by Chih-Ping Chen, Yi-Ning Su, Shee-Uan Chen, Tung-Yao Chang, Pei-Chen Wu, Schu-Rern Chern, Peih-Shan Wu, Yu-Ling Kuo, Wayseen Wang
Published 2014-03-01

Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome

by Sanaa Choufani, Jung Min Ko, Youliang Lou, Cheryl Shuman, Leona Fishman, Rosanna Weksberg
Published 2021-01-01

Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion

by Eloïse Giabicani, Sandra Chantot-Bastaraud, Sandra Chantot-Bastaraud, Adeline Bonnard, Myriam Rachid, Sandra Whalen, Irène Netchine, Frédéric Brioude
Published 2019-04-01

Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report

by Caroline Lekszas, Indrajit Nanda, Barbara Vona, Julia Böck, Farah Ashrafzadeh, Nahid Donyadideh, Farnoosh Ebrahimzadeh, Najmeh Ahangari, Reza Maroofian, Ehsan Ghayoor Karimiani, Thomas Haaf
Published 2019-06-01

Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance

by Laura Fontana, Silvia Tabano, Silvia Maitz, Patrizia Colapietro, Emanuele Garzia, Alberto Giovanni Gerli, Silvia Maria Sirchia, Monica Miozzo
Published 2021-03-01

Characterization and Childhood Tumor Risk Assessment of Genetic and Epigenetic Syndromes Associated With Lateralized Overgrowth

by Jessica R. Griff, Kelly A. Duffy, Jennifer M. Kalish, Jennifer M. Kalish
Published 2020-12-01

Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation

by Florian Kraft, Katharina Wesseler, Matthias Begemann, Ingo Kurth, Miriam Elbracht, Thomas Eggermann
Published 2019-02-01

Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases

by Maria Francesca Bedeschi, Mariarosaria Calvello, Leda Paganini, Lidia Pezzani, Marco Baccarin, Laura Fontana, Silvia M. Sirchia, Silvana Guerneri, Lorena Canazza, Ernesto Leva, Lorenzo Colombo, Faustina Lalatta, Fabio Mosca, Silvia Tabano, Monica Miozzo
Published 2017-10-01

Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome?

by Angela Sparago, Flavia Cerrato, Andrea Riccio
Published 2018-02-01

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

by Suhee Chang, Marisa S. Bartolomei
Published 2020-05-01

A Beckwith–Wiedemann-Associated <i>CDKN1C</i> Mutation Allows the Identification of a Novel Nuclear Localization Signal in Human p57^Kip2

by Emanuela Stampone, Debora Bencivenga, Clementina Barone, Marilena Di Finizio, Fulvio Della Ragione, Adriana Borriello
Published 2021-07-01

Expression of <it>KCNQ1OT1</it>, <it>CDKN1C</it>, <it>H19</it>, and <it>PLAGL1</it> and the methylation patterns at the KvDMR1 and <it>H19/IGF2</it> imprinting control regions is c...

by Robbins Katherine, Chen Zhiyuan, Wells Kevin, Rivera Rocío
Published 2012-11-01

A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3

by Huling Jiang, Zepeng Ping, Jianguo Wang, Xiaodan Liu, Yuxia Jin, Suping Li, Chiyan Zhou, Pinghua Huang, Yi Jin, Ling Ai, Jie Chen
Published 2021-03-01

De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome

by Qin Wang, Qian Geng, Qinghua Zhou, Fuwei Luo, Peining Li, Jiansheng Xie
Published 2017-12-01

Dissomia uniparental e mosaicismo somático como mecanismos de alterações epigenéticas do imprinting genômico

by Filipe Brum Machado
Published 2012

Dissomia uniparental e mosaicismo somático como mecanismos de alterações epigenéticas do imprinting genômico

by Machado, Filipe Brum
Published 2012

Multilocus methylation defects in imprinting disorders

by Mackay Deborah J.G., Eggermann Thomas, Buiting Karin, Garin Intza, Netchine Irène, Linglart Agnès, de Nanclares Guiomar Perez
Published 2015-03-01

Editorial: Epigenetic Mechanisms and Their Involvement in Rare Diseases

by Mojgan Rastegar, Dag H. Yasui
Published 2021-09-01