Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome

por Hsiang-Yu Lin, Chung-Lin Lee, Sisca Fran, Ru-Yi Tu, Ya-Hui Chang, Dau-Ming Niu, Chia-Ying Chang, Pao Chin Chiu, Yen-Yin Chou, Hui-Pin Hsiao, Chia-Feng Yang, Meng-Che Tsai, Tzu-Hung Chu, Chih-Kuang Chuang, Shuan-Pei Lin
Publicado 2021

Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature

por Hela Sassi, Yasmina Elaribi, Houweyda Jilani, Imen Rejeb, Syrine Hizem, Molka Sebai, Nadia Kasdallah, Habib Bouthour, Samia Hannachi, Jasmin Beygo, Ali Saad, Karin Buiting, Dorra H’mida Ben‐Brahim, Lamia BenJemaa
Publicado 2021

Characteristics Associated with Tumor Development in Individuals Diagnosed with Beckwith–Wiedemann Spectrum: Novel Tumor-(epi)Genotype-Phenotype Associations in the BWSp Population...

por Kelly A. Duffy, Kelly D. Getz, Evan R. Hathaway, Mallory E. Byrne, Suzanne P. MacFarland, Jennifer M. Kalish
Publicado 2021

Detection of hypermethylation at H19DMR at amniocentesis in a fetus with overgrowth, distended abdomen and Beckwith-Wiedemann syndrome

por Chih-Ping Chen, Schu-Rern Chern, Chien-Hsing Lin, Chin-Yuan Hsu, Hsiang-Yu Lin, Fang-Tzu Wu, Shin-Wen Chen, Wayseen Wang
Publicado 2021

Adrenocortical Tumors in Children With Constitutive Chromosome 11p15 Paternal Uniparental Disomy: Implications for Diagnosis and Treatment

por Emilia Modolo Pinto, Carlos Rodriguez-Galindo, Carlos Rodriguez-Galindo, Catherine G. Lam, Catherine G. Lam, Robert E. Ruiz, Gerard P. Zambetti, Raul C. Ribeiro
Publicado 2021

Cardiac pathologies in mouse loss of imprinting models are due to misexpression of H19 long noncoding RNA

por Ki-Sun Park, Beenish Rahat, Hyung Chul Lee, Zu-Xi Yu, Jacob Noeker, Apratim Mitra, Connor M Kean, Russell H Knutsen, Danielle Springer, Claudia M Gebert, Beth A Kozel, Karl Pfeifer
Publicado 2021