Human Genome Epidemiology Literature Finder
Records 1 - 18 (of 18 Records) |
Query Trace: Syndrome and CBL[original query] |
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Frequency of the T228A polymorphism in the SORBS1 gene in children with premature pubarche and in adolescent girls with hyperandrogenism. Fertility and sterility 2003 Jul 80 (1): 128-32. Witchel Selma F, Trivedi Ram N, Kammerer Canda |
A single nucleotide polymorphism in exon 7 of sorbin and SH3-domain-containing-1 (SORBS1) in Korean PCOS patients. Molecular medicine reports 0 1 (1): 93-7. Park Jung-Mi, Gu Bon-Hee, Lee Eung-Ji, Kim Jae-Young, Choi Sung-Woo, Baek Kwang-Hy |
Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia. Annals of hematology 2012 Apr 91 (4): 511-7. Park Hyung-Doo, Lee Soo Hyun, Sung Ki Woong, Koo Hong Hoe, Jung Nak Gyun, Cho Bin, Kim Hak Ki, Park In-Ae, Lee Ki-O, Ki Chang-Seok, Kim Sun-Hee, Yoo Keon Hee, Kim Hee-J |
Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy. Circulation. Cardiovascular genetics 2012 Jun 5 (3): 317-26. Kaski Juan Pablo, Syrris Petros, Shaw Adam, Alapi Krisztina Zuborne, Cordeddu Viviana, Esteban Maria Teresa Tome, Jenkins Sharon, Ashworth Michael, Hammond Peter, Tartaglia Marco, McKenna William J, Elliott Perry |
Targeted next-generation sequencing identifies a subset of idiopathic hypereosinophilic syndrome with features similar to chronic eosinophilic leukemia, not otherwise specified. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2016 May . Wang Sa A, Tam Wayne, Tsai Albert G, Arber Daniel A, Hasserjian Robert P, Geyer Julia T, George Tracy I, Czuchlewski David R, Foucar Kathryn, Rogers Heesun J, Hsi Eric D, Bryan Rea B, Bagg Adam, Dal Cin Paola, Zhao Chong, Kelley Todd W, Verstovsek Srdan, Bueso-Ramos Carlos, Orazi Attil |
Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing. Advances in medical sciences 2017 9 63 (1): 87-93. Tafazoli Alireza, Eshraghi Peyman, Pantaleoni Francesca, Vakili Rahim, Moghaddassian Morteza, Ghahraman Martha, Muto Valentina, Paolacci Stefano, Golyan Fatemeh Fardi, Abbaszadegan Mohammad Re |
Incorporation of mutations in five genes in the revised International Prognostic Scoring System can improve risk stratification in the patients with myelodysplastic syndrome. Blood cancer journal 2018 Apr 8 (4): 39. Hou Hsin-An, Tsai Cheng-Hong, Lin Chien-Chin, Chou Wen-Chien, Kuo Yuan-Yeh, Liu Chieh-Yu, Tseng Mei-Hsuan, Peng Yen-Ling, Liu Ming-Chih, Liu Chia-Wen, Liao Xiu-Wen, Lin Liang-In, Yao Ming, Tang Jih-Luh, Tien Hwei-Fa |
Mutations in the DNA methylation pathway and number of driver mutations predict response to azacitidine in myelodysplastic syndromes. Oncotarget 2018 1 8 (63): 106948-106961. Cedena M Teresa, Rapado Inmaculada, Santos-Lozano Alejandro, Ayala Rosa, Onecha Esther, Abaigar María, Such Esperanza, Ramos Fernando, Cervera José, Díez-Campelo María, Sanz Guillermo, Rivas Jesús Hernández, Lucía Alejandro, Martínez-López Joaqu |
Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients. Clinical genetics 2019 6 96 (4): 290-299. Li Xin, Yao Ruen, Tan Xin, Li Niu, Ding Yu, Li Juan, Chang Guoying, Chen Yao, Ma Lizhuang, Wang Jian, Fu Lijun, Wang Xium |
Noonan Syndrome in South Africa: Clinical and Molecular Profiles. Frontiers in genetics 2019 5 10 333. Tekendo-Ngongang Cedrik, Agenbag Gloudi, Bope Christian Domilongo, Esterhuizen Alina Izabela, Wonkam Ambroi |
Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes. Blood 2019 Apr . Hadjadj Jérôme, Aladjidi Nathalie, Fernandes Helder, Leverger Guy, Magérus-Chatinet Aude, Mazerolles Fabienne, Stolzenberg Marie-Claude, Jacques Sidonie, Picard Capucine, Rosain Jérémie, Fourrage Cécile, Hanein Sylvain, Zarhrate Mohammed, Pasquet Marlène, Abou Chahla Wadih, Barlogis Vincent, Bertrand Yves, Pellier Isabelle, Colomb Bottollier Elodie, Fouyssac Fanny, Blouin Pascale, Thomas Caroline, Cheikh Nathalie, Dore Eric, Pondarre Corinne, Plantaz Dominique, Jeziorski Eric, Millot Frédéric, Garcelon Nicolas, Ducassou Stéphane, Perel Yves, Leblanc Thierry, Neven Bénédicte, Fischer Alain, Rieux-Laucat Frédéric, |
Juvenile myelomonocytic leukemia - A bona fide RASopathy syndrome. Best practice & research. Clinical haematology 2020 5 33 (2): 101171. Lasho Terra, Patnaik Mrinal |
The Prognostic Ability of RAS Pathway-Related Gene Mutations in Patients with Myeloid Neoplasms Treated with Hypomethylating Agents. Acta haematologica 2021 Jul 1-11. Park Hee Sue, Son Bo Ra, Shin Kyeong Seob, Byeon Seonggyu, Kim Hee Kyung, Yang Yaewon, Jeong Yusook, Han Hye Sook, Lee Ki Hyeong, Kwon Jihy |
Clinical implications of copy number alteration detection using panel-based next-generation sequencing data in myelodysplastic syndrome. Leukemia research 2021 Apr 103 106540. Kim Yoo-Jin, Jung Seung-Hyun, Hur Eun-Hye, Choi Eun-Ji, Lee Kyoo-Hyung, Park Hyeon-Chun, Kim Hye Joung, Kwon Yong-Rim, Park Silvia, Lee Sug Hyung, Chung Yeun-Jun, Lee Je-Hw |
Clonal cytopenia of undetermined significance (CCUS) with dysplasia is enriched for MDS-type molecular findings compared to CCUS without dysplasia. European journal of haematology 2021 1 106 (4): 500-507. Jajosky Audrey N, Sadri Navid, Meyerson Howard J, Oduro Kwadwo A, Kelkar Ashwin, Fitzgerald Brynn, Tomlinson Benjamin, Moore Erika M, Beck Rose |
Effect of mutation allele frequency on the risk stratification of myelodysplastic syndrome patients. American journal of hematology 2022 9 97 (12): 1589-1598. Lee Wan-Hsuan, Lin Chien-Chin, Tsai Cheng-Hong, Tseng Mei-Hsuan, Kuo Yuan-Yeh, Liu Ming-Chih, Tang Jih-Luh, Sun Hsun-I, Chuang Yi-Kuang, Chou Wen-Chien, Hou Hsin-An, Tien Hwei-Fa |
Clinical and Genomic Profiles of Korean Patients with MECOM Rearrangement and the t(3;21)(q26.2;q22.1) Translocation. Annals of laboratory medicine 2022 4 42 (5): 590-596. Lee Jikyo, Kim Sung Min, Kim Soonok, Yun Jiwon, Jeong Dajeong, Lee Young Eun, Roh Eun-Youn, Lee Dong So |
Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients. European journal of pediatrics 2022 Oct 181 (10): 3691-3700. Papadopoulos George, Papadopoulou Anna, Kosma Konstantina, Papadimitriou Anastasios, Papaevangelou Vassiliki, Kanaka-Gantenbein Christina, Bountouvi Evangelia, Kitsiou-Tzeli Soph |
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- Page last updated:Apr 22, 2024
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