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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Disease and SMC1A[original query]
Rare copy number variants contribute to congenital left-sided heart disease.
PLoS genetics 2012 Sep 8 (9): e1002903.
Hitz Marc-Phillip, Lemieux-Perreault Louis-Philippe, Marshall Christian, Feroz-Zada Yassamin, Davies Robbie, Yang Shi Wei, Lionel Anath Christopher, D'Amours Guylaine, Lemyre Emmanuelle, Cullum Rebecca, Bigras Jean-Luc, Thibeault Maryse, Chetaille Philippe, Montpetit Alexandre, Khairy Paul, Overduin Bert, Klaassen Sabine, Hoodless Pamela, Awadalla Philip, Hussin Julie, Idaghdour Youssef, Nemer Mona, Stewart Alexandre F R, Boerkoel Cornelius, Scherer Stephen W, Richter Andrea, Dubé Marie-Pierre, Andelfinger Greg
The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent Mutations.
PloS one 2016 11 (2): e0148346.
Ibáñez Mariam, Carbonell-Caballero José, García-Alonso Luz, Such Esperanza, Jiménez-Almazán Jorge, Vidal Enrique, Barragán Eva, López-Pavía María, LLop Marta, Martín Iván, Gómez-Seguí Inés, Montesinos Pau, Sanz Miguel A, Dopazo Joaquín, Cervera Jo
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Genetics in medicine : official journal of the American College of Medical Genetics 2018 8 21 (3): 663-675.
Yuan Bo, Neira Juanita, Pehlivan Davut, Santiago-Sim Teresa, Song Xiaofei, Rosenfeld Jill, Posey Jennifer E, Patel Vipulkumar, Jin Weihong, Adam Margaret P, Baple Emma L, Dean John, Fong Chin-To, Hickey Scott E, Hudgins Louanne, Leon Eyby, Madan-Khetarpal Suneeta, Rawlins Lettie, Rustad Cecilie F, Stray-Pedersen Asbjørg, Tveten Kristian, Wenger Olivia, Diaz Jullianne, Jenkins Laura, Martin Laura, McGuire Marianne, Pietryga Marguerite, Ramsdell Linda, Slattery Leah, , Abid Farida, Bertuch Alison A, Grange Dorothy, Immken LaDonna, Schaaf Christian P, Van Esch Hilde, Bi Weimin, Cheung Sau Wai, Breman Amy M, Smith Janice L, Shaw Chad, Crosby Andrew H, Eng Christine, Yang Yaping, Lupski James R, Xiao Rui, Liu Pengf
[Analysis of clinical manifestation and genetic mutations in two patients with Cornelia de Lange syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 8 35 (4): 493-497.
Miao Yequan, Zhu Yueyue, Zhang Qigang, Guo Haowei, Zhao Yuxiang, Cheng Longfei, Han Liangrong, Ning Ying, Pan Qio
[Genetic variant analysis of a neonate with Cornelia de Lange syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 3 37 (4): 449-451.
Sun Yuanyuan, Chen Cuie, Di Tianwei, Shao Haoran, Zhu Ronghe, Zhu Yanke, Zhou Aihua, Wang Q
Acute Myeloid Leukemia Presenting Less Than 3 Weeks After Living Donor Kidney Transplant: A Case Report.
Transplantation proceedings 2021 4 53 (4): 1360-1364.
Yu Jielin, Sherburne Bradford, Chen Yi-Bin, Kutzler Heather L, Tremaglio Joseph, Rochon Caroline, Sheiner Patricia, Serrano Oscar
PTPN11 mutations in adult acute myeloid leukaemia: Prevalence and clinical implications in the context of NPM1 mutation.
Leukemia research 2022 5 118 106859.
Liu Jie, Qin Wei, Wang Biao, Wang Zheng, Hua Haiying, Zhou Feng, Jia Zhuxia, Wu Pin, Chao Hongying, Lu Xuzha
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