Human Genome Epidemiology Literature Finder
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Records 1 - 7 (of 7 Records) |
| Query Trace: Disease and RECQL4[original query] |
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| Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. Molecular genetics & genomic medicine 2016 May 4 (3): 359-66. Suter Aude-Annick, Itin Peter, Heinimann Karl, Ahmed Munaza, Ashraf Tazeen, Fryssira Helen, Kini Usha, Lapunzina Pablo, Miny Peter, Sommerlund Mette, Suri Mohnish, Vaeth Signe, Vasudevan Pradeep, Gallati Sabi |
| Mutation Spectrum of Cancer-Associated Genes in Patients With Early Onset of Colorectal Cancer. Frontiers in oncology 2019 8 9 673. Zhunussova Gulnur, Afonin Georgiy, Abdikerim Saltanat, Jumanov Abai, Perfilyeva Anastassiya, Kaidarova Dilyara, Djansugurova Ley |
| Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families. BMC cancer 2019 Apr 19 (1): 313. Shahi Rajendra Bahadur, De Brakeleer Sylvia, Caljon Ben, Pauwels Ingrid, Bonduelle Maryse, Joris Sofie, Fontaine Christel, Vanhoeij Marian, Van Dooren Sonia, Teugels Erik, De Grève Jacqu |
| Increased Cancer Prevalence in Peripartum Cardiomyopathy. JACC. CardioOncology 2021 8 1 (2): 196-205. Pfeffer Tobias J, Schlothauer Stella, Pietzsch Stefan, Schaufelberger Maria, Auber Bernd, Ricke-Hoch Melanie, List Manuel, Berliner Dominik, Abou Moulig Valeska, König Tobias, Arany Zolt, Sliwa Karen, Bauersachs Johann, Hilfiker-Kleiner Deni |
| Recurrent Somatic Copy Number Alterations and Their Association with Oncogene Expression Levels in High-Grade Ovarian Serous Carcinoma. Life (Basel, Switzerland) 2023 11 13 (11): . Hillary P Esplen, Richard K Yang, Awdhesh Kalia, Zhenya Tang, Guilin Tang, L Jeffrey Medeiros, Gokce A Torun |
| Prevalence of germline variants in Brazilian pancreatic carcinoma patients. Scientific reports 2024 9 14 (1): 21083. Lívia Munhoz Rodrigues, Simone Maistro, Maria Lucia Hirata Katayama, Vinícius Marques Rocha, Rossana Veronica Mendoza Lopez, Edia Filomena di Tullio Lopes, Fernanda Toledo Gonçalves, Cintia Fridman, Pedro Adolpho de Menezes Pacheco Serio, Luciana Rodrigues Carvalho Barros, Luiz Antonio Senna Leite, Vanderlei Segatelli, Maria Del Pilar Estevez-Diz, Rodrigo Santa Cruz Guindalini, Ulysses Ribeiro Junior, Maria Aparecida Azevedo Koike Folguei |
| Increased frequency of CHEK2 germline pathogenic variants among individuals with dermatofibrosarcoma protuberans. Genetics in medicine open 2024 12 2 101895. Michael R Sargen, Jung Kim, Jeremy S Haley, Hayley P Barker, Piyushkumar A Mundra, Mandy L Ballinger, David M Thomas, David J Carey, Alisa M Goldstein, Douglas R Stewa |
- Page last reviewed:Feb 1, 2024
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