HuGE Literature Finder
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| A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype. Journal of medical genetics 2022 6 60 (2): 134-136. Gaudet Marie Véronique, Allain Eric Pierre, Gallant Lynne M, Arts Heleen H, Ben Amor Mou |
| Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants. Cancers 2022 8 14 (15): . Cardoso Leila Cabral de Almeida, Parra Alejandro, Gil Cristina Ríos, Arias Pedro, Gallego Natalia, Romanelli Valeria, Kantaputra Piranit Nik, Lima Leonardo, Llerena Júnior Juan Clinton, Arberas Claudia, Guillén-Navarro Encarna, Nevado Julián, Spanish OverGrowth Registry Initiative , Tenorio-Castano Jair, Lapunzina Pab |
| Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith-Wiedemann progeny. Clinical epigenetics 2022 3 14 (1): 43. Tannorella Pierpaola, Calzari Luciano, Daolio Cecilia, Mainini Ester, Vimercati Alessandro, Gentilini Davide, Soli Fiorenza, Pedrolli Annalisa, Bonati Maria Teresa, Larizza Lidia, Russo Silv |
| Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome. Journal of personalized medicine 2021 11 11 (11): . Lin Hsiang-Yu, Lee Chung-Lin, Fran Sisca, Tu Ru-Yi, Chang Ya-Hui, Niu Dau-Ming, Chang Chia-Ying, Chiu Pao Chin, Chou Yen-Yin, Hsiao Hui-Pin, Yang Chia-Feng, Tsai Meng-Che, Chu Tzu-Hung, Chuang Chih-Kuang, Lin Shuan-P |
| Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study. Italian journal of pediatrics 2020 5 46 (1): 55. Wang Ruixue, Xiao Yongmei, Li Dan, Hu Hui, Li Xiaolu, Ge Ting, Yu Ronghua, Wang Yizhong, Zhang Ti |
| Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients. Scientific reports 2020 5 10 (1): 8275. Rovina Davide, La Vecchia Marta, Cortesi Alice, Fontana Laura, Pesant Matthieu, Maitz Silvia, Tabano Silvia, Bodega Beatrice, Miozzo Monica, Sirchia Silvia |
| Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome. Clinical epigenetics 2018 Aug 10 (1): 114. Dagar Vinod, Hutchison Wendy, Muscat Andrea, Krishnan Anita, Hoke David, Buckle Ashley, Siswara Priscillia, Amor David J, Mann Jeffrey, Pinner Jason, Colley Alison, Wilson Meredith, Sachdev Rani, McGillivray George, Edwards Matthew, Kirk Edwin, Collins Felicity, Jones Kristi, Taylor Juliet, Hayes Ian, Thompson Elizabeth, Barnett Christopher, Haan Eric, Freckmann Mary-Louise, Turner Anne, White Susan, Kamien Ben, Ma Alan, Mackenzie Fiona, Baynam Gareth, Kiraly-Borri Cathy, Field Michael, Dudding-Byth Tracey, Algar Elizabeth |
| Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases. BMC medical genetics 2017 10 18 (1): 115. Bedeschi Maria Francesca, Calvello Mariarosaria, Paganini Leda, Pezzani Lidia, Baccarin Marco, Fontana Laura, Sirchia Silvia M, Guerneri Silvana, Canazza Lorena, Leva Ernesto, Colombo Lorenzo, Lalatta Faustina, Mosca Fabio, Tabano Silvia, Miozzo Moni |
| Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups. American journal of medical genetics. Part A 2016 Jul . Maas Saskia M, Vansenne Fleur, Kadouch Daniel J M, Ibrahim Abdulla, Bliek Jet, Hopman Saskia, Mannens Marcel M, Merks Johannes H M, Maher Eamonn R, Hennekam Raoul |
| A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects. The Journal of clinical endocrinology and metabolism 2015 9 100 (11): 3963-6. Bakker Boudewijn, Sonneveld Laura J H, Woltering M Claire, Bikker Hennie, Kant Sarina |
| Pyrrole-imidazole polyamide-mediated silencing of KCNQ1OT1 expression induces cell death in Wilms' tumor cells. International journal of oncology 2015 5 47 (1): 115-21. Yoshizawa Shinsuke, Fujiwara Kyoko, Sugito Kiminobu, Uekusa Shota, Kawashima Hiroyuki, Hoshi Reina, Watanabe Yosuke, Hirano Takayuki, Furuya Takeshi, Masuko Takayuki, Ueno Takahiro, Fukuda Noboru, Soma Masayoshi, Ozaki Toshinori, Koshinaga Tsugumichi, Nagase Hiro |
| Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients. Genetics and molecular biology 2012 12 35 (4): 714-24. Cardoso Leila C A, Tenorio Castaño Jair A, Pereira Hanna S, Lima Maria Angélica de F D, Dos Santos Anna Cláudia E, de Faria Paulo S, Ferman Sima, Seuánez Héctor N, Nevado Julián B, de Almeida José Carlos Cabral, Lapunzina Pablo, Vargas Fernando |
| Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting. American journal of medical genetics. Part A 2010 7 152A (8): 1990-3. Poole Rebecca L, Baple Emma, Crolla John A, Temple I Karen, Mackay Deborah J |
| Epigenotype, phenotype, and tumors in patients with isolated hemihyperplasia. The Journal of pediatrics 2008 6 153 (1): 95-100. Bliek Jet, Maas Saskia, Alders Mariel, Merks Johannes H M, Mannens Marc |
| Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Human molecular genetics 2002 5 11 (11): 1317-25. Weksberg Rosanna, Shuman Cheryl, Caluseriu Oana, Smith Adam C, Fei Yan-Ling, Nishikawa Joy, Stockley Tracy L, Best Lyle, Chitayat David, Olney Ann, Ives Elizabeth, Schneider Adele, Bestor Timothy H, Li Madeline, Sadowski Paul, Squire Jere |
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- Page last updated:Mar 22, 2023
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