Human Genome Epidemiology Literature Finder
Rare Diseases
|
Records 1 - 19 (of 19 Records) |
| Query Trace: Beckwith-wiedemann Syndrome[original query] |
|---|
| An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype. Human molecular genetics 2004 Jan 13 (2): 247-55. Murrell Adele, Heeson Sarah, Cooper Wendy N, Douglas Eleanor, Apostolidou Sophia, Moore Gudrun E, Maher Eamonn R, Reik Wo |
| Studies of variations of the cyclin-dependent kinase inhibitor 1C and the cyclin-dependent kinase 4 genes in relation to type 2 diabetes mellitus and related quantitative traits. Journal of molecular medicine (Berlin, Germany) 2005 May 83 (5): 353-61. Nielsen Eva-Maria D, Hansen Lars, Stissing Trine, Yanagisawa Keiko, Borch-Johnsen Knut, Poulsen Pernille, Vaag Allan, Hansen Torben, Pedersen Ol |
| Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance. Hormone research in pædiatrics 2013 80 (6): 457-65. Brioude F, Lacoste A, Netchine I, Vazquez M-P, Auber F, Audry G, Gauthier-Villars M, Brugieres L, Gicquel C, Le Bouc Y, Rossignol |
| No evidence for copy number and methylation variation in H19 and KCNQ10T1 imprinting control regions in children born small for gestational age. BMC medical genetics 2014 15 67. Murphy Rinki, Thompson John Md, Tost Jörg, Mitchell Edwin A, |
| Rapid Diagnosis of Imprinting Disorders Involving Copy Number Variation and Uniparental Disomy Using Genome-Wide SNP Microarrays. Cytogenetic and genome research 2015 Sep 146 (1): 9-18. Liu Weiqiang, Zhang Rui, Wei Jun, Zhang Huimin, Yu Guojiu, Li Zhihua, Chen Min, Sun Xiaofa |
| Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol. The Journal of pediatrics 2016 Jun . Mussa Alessandro, Molinatto Cristina, Baldassarre Giuseppina, Riberi Evelise, Russo Silvia, Larizza Lidia, Riccio Andrea, Ferrero Giovanni Battis |
| 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 |
| NLRP genes and their role in preeclampsia and multi-locus imprinting disorders. Journal of perinatal medicine 2017 7 46 (2): 169-173. Soellner Lukas, Kopp Kathrin Maria, Mütze Sabine, Meyer Robert, Begemann Matthias, Rudnik Sabine, Rath Werner, Eggermann Thomas, Zerres Kla |
| 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 |
| 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 |
| Obstructive Sleep Apnea in Children With Beckwith-Wiedemann Syndrome. Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2019 3 15 (3): 375-381. Cielo Christopher M, Duffy Kelly A, Taylor Jesse A, Marcus Carole L, Kalish Jennifer |
| Genetic investigation of patients with tall stature. European journal of endocrinology 2019 Nov . Vasco de Albuquerque Albuquerque Edoarda, Ferreira de Assis Funari Mariana, Pereira de Souza Quedas Elisângela, Sayuri Honjo Kawahira Rachel, Soares Jallad Raquel, Homma Thaís Kataoka, Martin Regina Matsunaga, Brito Vinicius Nahime, Malaquias Alexsandra Christianne, Lerario Antonio Marcondes, Rosenberg Carla, Victorino Krepischi Ana Cristina, Ae Kim Chong, Arnhold Ivo Jorge Prado, Jorge Alexander Augusto de Li |
| Placental Pathology in Beckwith-Wiedemann Syndrome According to Genotype/Epigenotype Subgroups. Fetal and pediatric pathology 2019 1 37 (6): 387-399. Gaillot-Durand Lucie, Brioude Frederic, Beneteau Claire, Le Breton Frédérique, Massardier Jerome, Michon Lucas, Devouassoux-Shisheboran Mojgan, Allias Fabien |
| Germline Variants in Phosphodiesterase Genes and Genetic Predisposition to Pediatric Adrenocortical Tumors. Cancers 2020 2 12 (2): . Pinto Emilia Modolo, Faucz Fabio R, Paza Luana Z, Wu Gang, Fernandes Elizabeth S, Bertherat Jerome, Stratakis Constantine A, Lalli Enzo, Ribeiro Raul C, Rodriguez-Galindo Carlos, Figueiredo Bonald C, Zambetti Gerard |
| 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 |
| Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome. Annals of laboratory medicine 2022 Nov 42 (6): 668-677. Kim Hwa Young, Shin Choong Ho, Lee Young Ah, Shin Chang Ho, Kim Gu-Hwan, Ko Jung M |
| Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances. Clinical epigenetics 2022 6 14 (1): 71. Pignata Laura, Cecere Francesco, Verma Ankit, Hay Mele Bruno, Monticelli Maria, Acurzio Basilia, Giaccari Carlo, Sparago Angela, Hernandez Mora Jose Ramon, Monteagudo-Sánchez Ana, Esteller Manel, Pereda Arrate, Tenorio-Castano Jair, Palumbo Orazio, Carella Massimo, Prontera Paolo, Piscopo Carmelo, Accadia Maria, Lapunzina Pablo, Cubellis Maria Vittoria, de Nanclares Guiomar Perez, Monk David, Riccio Andrea, Cerrato Flav |
| 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 |
| Cancer predisposition signaling in Beckwith-Wiedemann Syndrome drives Wilms tumor development. British journal of cancer 2023 12 . Snehal Nirgude, Natali S Sobel Naveh, Sanam L Kavari, Emily M Traxler, Jennifer M Kali |
- Page last reviewed:Feb 1, 2024
- Content source: