Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: Syndrome and CDKN1C[original query] |
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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 |
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 |
Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome. Endocrine connections 2017 9 6 (8): 557-565. Mamedova Elizaveta, Mokrysheva Natalya, Vasilyev Evgeny, Petrov Vasily, Pigarova Ekaterina, Kuznetsov Sergey, Kuznetsov Nikolay, Rozhinskaya Liudmila, Melnichenko Galina, Dedov Ivan, Tiulpakov Anato |
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 |
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients. Clinical epigenetics 2020 6 12 (1): 86. Inoue Takanobu, Nakamura Akie, Iwahashi-Odano Megumi, Tanase-Nakao Kanako, Matsubara Keiko, Nishioka Junko, Maruo Yoshihiro, Hasegawa Yukihiro, Suzumura Hiroshi, Sato Seiji, Kobayashi Yoshiyuki, Murakami Nobuyuki, Nakabayashi Kazuhiko, Yamazawa Kazuki, Fuke Tomoko, Narumi Satoshi, Oka Akira, Ogata Tsutomu, Fukami Maki, Kagami Masa |
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 |
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- Page last updated:Apr 29, 2024
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