Human Genome Epidemiology Literature Finder
Rare Diseases
|
Records 1 - 15 (of 15 Records) |
| Query Trace: Bloom Syndrome[original query] |
|---|
| Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel. The Israel Medical Association journal : IMAJ 2002 Feb 4 (2): 95-7. Peleg Leah, Pesso Rachel, Goldman Boleslaw, Dotan Keren, Omer Merav, Friedman Eitan, Berkenstadt Michal, Reznik-Wolf Haike, Barkai G |
| Heterozygosity for the BLM(Ash) mutation and cancer risk. Cancer research 2003 Apr 63 (8): 1769-71. Cleary Sean P, Zhang William, Di Nicola Nando, Aronson Melyssa, Aube Jennifer, Steinman Amanda, Haddad Riad, Redston Mark, Gallinger Steven, Narod Steven A, Gryfe Robe |
| Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in risk modification for cancer development. American journal of hematology 2005 Mar 78 (3): 203-6. Koren-Michowitz M, Friedman E, Gershoni-Baruch R, Brok-Simoni F, Patael Y, Rechavi G, Amariglio |
| Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated? Prenatal diagnosis 2008 Mar 28 (3): 236-41. Fares Fuad, Badarneh Khader, Abosaleh Mohamed, Harari-Shaham Amalia, Diukman Roni, David Miri |
| Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer, a case-control study. BMC cancer 2009 9 (1): 140. Broberg Karin, Huynh Elizabeth, Schläwicke Engström Karin, Björk Jonas, Albin Maria, Ingvar Christian, Olsson Håkan, Höglund Matti |
| High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia. International journal of cancer. Journal international du cancer 2012 Jun 130 (12): 2867-73. Sokolenko Anna P, Iyevleva Aglaya G, Preobrazhenskaya Elena V, Mitiushkina Nathalia V, Abysheva Svetlana N, Suspitsin Evgeny N, Kuligina Ekatherina Sh, Gorodnova Tatiana V, Pfeifer Werner, Togo Alexandr V, Turkevich Elena A, Ivantsov Alexandr O, Voskresenskiy Dmitry V, Dolmatov Georgy D, Bit-Sava Elena M, Matsko Dmitry E, Semiglazov Vladimir F, Fichtner Iduna, Larionov Alexey A, Kuznetsov Sergey G, Antoniou Antonis C, Imyanitov Evgeny |
| Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. PLoS genetics 2012 Sep 8 (9): 9. Thompson ER, Doyle MA, Ryland GL, Rowley SM, Choong DY, Tothill RW, Thorne H, Barnes DR, Li J, Ellul J, Philip GK, Antill YC, James PA, Trainer AH, Mitchell G, Campbell IG |
| Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer. Scientific reports 2015 5 14060. de Voer Richarda M, Hahn Marc-Manuel, Mensenkamp Arjen R, Hoischen Alexander, Gilissen Christian, Henkes Arjen, Spruijt Liesbeth, van Zelst-Stams Wendy A, Marleen Kets C, Verwiel Eugene T, Nagtegaal Iris D, Schackert Hans K, van Kessel Ad Geurts, Hoogerbrugge Nicoline, Ligtenberg Marjolijn J L, Kuiper Roland |
| Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management. The Journal of pediatrics 2017 08 187 206-212.e1. Meyer Robert, Soellner Lukas, Begemann Matthias, Dicks Severin, Fekete György, Rahner Nils, Zerres Klaus, Elbracht Miriam, Eggermann Thom |
| Clinicopathologic characterization of breast carcinomas in patients with non-BRCA germline mutations: results from a single institution's high-risk population. Human pathology 2018 7 82 20-31. Meiss Alice E, Thomas Martha, Modesitt Susan C, Ring Kari L, Atkins Kristen A, Mills Anne |
| Assessment of Potential Clinical Role for Exome Sequencing in Schizophrenia. Schizophrenia bulletin 2019 5 46 (2): 328-335. Balakrishna Thivia, Curtis Dav |
| Germline BLM mutations and metastatic prostate cancer. The Prostate 2019 Nov . Ledet Elisa M, Antonarakis Emmanuel S, Isaacs William B, Lotan Tamara L, Pritchard Colin, Sartor A Oliv |
| Inherited Variants in BLM and the Risk and Clinical Characteristics of Breast Cancer. Cancers 2019 10 11 (10): . Klu?niak Wojciech, Woko?orczyk Dominika, Rusak Bogna, Huzarski Tomasz, Kashyap Aniruddh, Stempa Klaudia, Rudnicka Helena, Jakubowska Anna, Szwiec Marek, Morawska Sylwia, Gliniewicz Katarzyna, Mordak Karina, Stawicka Ma?gorzata, Jarkiewicz-Tretyn Joanna, Cechowska Magdalena, Domaga?a Pawe?, D?bniak Tadeusz, Lener Marcin, Gronwald Jacek, Lubi?ski Jan, Narod Steven A, Akbari Mohammad R, Cybulski Ceza |
| Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma. Proceedings of the National Academy of Sciences of the United States of America 2020 12 117 (52): 33466-33473. Bononi Angela, Goto Keisuke, Ak Guntulu, Yoshikawa Yoshie, Emi Mitsuru, Pastorino Sandra, Carparelli Lorenzo, Ferro Angelica, Nasu Masaki, Kim Jin-Hee, Suarez Joelle S, Xu Ronghui, Tanji Mika, Takinishi Yasutaka, Minaai Michael, Novelli Flavia, Pagano Ian, Gaudino Giovanni, Pass Harvey I, Groden Joanna, Grzymski Joseph J, Metintas Muzaffer, Akarsu Muhittin, Morrow Betsy, Hassan Raffit, Yang Haining, Carbone Miche |
| Intellectual disability and abnormal cortical neuron phenotypes in patients with Bloom syndrome. Journal of human genetics 2023 1 . Kaneko Hideo, Kawase Chizuru, Seki Junko, Ikawa Yasuhiro, Yachie Akihiro, Funato Michino |
- Page last reviewed:Feb 1, 2024
- Content source: