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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 1, 2023. (Total: 221588Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Beckwith-Wiedemann Syndrome and KCNQ1OT1[original query]
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
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
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
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