Human Genome Epidemiology Literature Finder
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Records 1 - 10 (of 10 Records) |
| Query Trace: Syndrome and FANCM[original query] |
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| Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition. Carcinogenesis 2009 Nov 30 (11): 1898-902. García María J, Fernández Victoria, Osorio Ana, Barroso Alicia, Fernández Fernando, Urioste Miguel, Benítez Javi |
| Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia. Genetics in medicine : official journal of the American College of Medical Genetics 2017 8 20 (4): 458-463. Bogliolo Massimo, Bluteau Dominique, Lespinasse James, Pujol Roser, Vasquez Nadia, d'Enghien Catherine Dubois, Stoppa-Lyonnet Dominique, Leblanc Thierry, Soulier Jean, Surrallés Jor |
| Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia. American journal of human genetics 2018 8 103 (2): 200-212. Kasak Laura, Punab Margus, Nagirnaja Liina, Grigorova Marina, Minajeva Ave, Lopes Alexandra M, Punab Anna Maria, Aston Kenneth I, Carvalho Filipa, Laasik Eve, Smith Lee B, , Conrad Donald F, Laan Mar |
| Recommendations for Preventive Care for Women with Rare Genetic Cause of Breast and Ovarian Cancer. Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti 2019 8 32 (Supplementum2): 6-13. Foretová Lenka, Navrátilová Marie, Svoboda Marek, Vaší?ková Petra, S?ahlová Eva Hrabincová, Házová Jana, Kleiblová Petra, Kleibl Zden?k, Machá?ková Eva, Palácová Markéta, Petráková Katarí |
| A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants. EBioMedicine 2020 3 53 102675. Earl Julie, Galindo-Pumariño Cristina, Encinas Jessica, Barreto Emma, Castillo Maria E, Pachón Vanessa, Ferreiro Reyes, Rodríguez-Garrote Mercedes, González-Martínez Silvia, Ramon Y Cajal Teresa, Diaz Luis Robles, Chirivella-Gonzalez Isabel, Rodriguez Montse, de Castro Eva Martínez, García-Seisdedos David, Muñoz Gloria, Rosa Juan Manuel Rosa, Marquez Mirari, Malats Nuría, Carrato Alfre |
| Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition. Genes, chromosomes & cancer 2020 Oct . Cavaillé Mathias, Uhrhammer Nancy, Privat Maud, Ponelle-Chachuat Flora, Gay-Bellile Mathilde, Lepage Mathis, Molnar Ioana, Viala Sandrine, Bidet Yannick, Bignon Yves-Je |
| Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center. ESMO open 2022 11 7 (6): 100607. Poliani L, Greco L, Barile M, Dal Buono A, Bianchi P, Basso G, Giatti V, Genuardi M, Malesci A, Laghi L, |
| Novel Bi-Allelic Variants of FANCM Cause Sertoli Cell-Only Syndrome and Non-Obstructive Azoospermia. Frontiers in genetics 2022 1 12 799886. Zhang Yuxiang, Li Peng, Liu Nachuan, Jing Tao, Ji Zhiyong, Yang Chao, Zhao Liangyu, Tian Ruhui, Chen Huixing, Huang Yuhua, Zhi Erlei, Ou Ningjing, Bai Haowei, Zhou Yuchuan, Li Zheng, Yao Chenche |
| Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome. Blood advances 2023 7 . Francesca Guijarro, Mònica López-Guerra, Jordi Morata, Alex Bataller, Sara Paz, Josep Maria Cornet-Masana, Antònia Banús-Mulet, Laia Cuesta-Casanovas, Josep Maria Carbó, Sandra Castaño-Díez, Carlos Jiménez-Vicente, Albert Cortés-Bullich, Ana Triguero, Alexandra Martínez-Roca, Daniel Esteban, Marta Gómez-Hernando, José Ramón Álamo Moreno, Irene López-Oreja, Marta Garrote, Ruth Muñoz Risueño, Raul Tonda, Ivo G Gut, Dolors Colomer, Marina Díaz-Beya, Jordi Este |
| Comparative sequencing study of mismatch repair and homology-directed repair genes in endometrial cancer and breast cancer patients from Kazakhstan. International journal of cancer 2024 10 . Ying Zheng, Natalia Vdovichenko, Peter Schürmann, Dhanya Ramachandran, Robert Geffers, Lisa-Marie Speith, Natalia Bogdanova, Julia Enßen, Natalia Dubrowinskaja, Tatyana Yugay, Zura Berkutovna Yessimsiitova, Nurzhan Turmanov, Peter Hillemanns, Thilo Dö |
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