Human Genome Epidemiology Literature Finder
Records 1 - 18 (of 18 Records) |
Query Trace: SBDS[original query] |
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Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis. The Journal of pediatrics 2005 May 146 (5): 675-80. Groman Joshua D, Karczeski Barbara, Sheridan Molly, Robinson Terry E, Fallin M Daniele, Cutting Garry |
Mutations in the SBDS gene in acquired aplastic anemia. Blood 2007 Aug 110 (4): 1141-6. Calado Rodrigo T, Graf Solomon A, Wilkerson Keisha L, Kajigaya Sachiko, Ancliff Philip J, Dror Yigal, Chanock Stephen J, Lansdorp Peter M, Young Neal |
Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. British journal of haematology 2009 Nov 147 (4): 535-42. Xia Jun, Bolyard Audrey A, Rodger Elin, Stein Steve, Aprikyan Andrew A, Dale David C, Link Daniel |
Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach. NeuroImage. Clinical 2015 7 721-31. Perobelli Sandra, Alessandrini Franco, Zoccatelli Giada, Nicolis Elena, Beltramello Alberto, Assael Baroukh M, Cipolli Mar |
Identification of Novel Oncogenic Mutations in Thyroid Cancer. Journal of the American College of Surgeons 2016 Jan . Pitt Susan C, Hernandez Roland A, Nehs Matthew A, Gawande Atul A, Moore Francis D, Ruan Daniel T, Cho Nancy |
Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation. The New England journal of medicine 2017 02 376 (6): 536-547. Lindsley R Coleman, Saber Wael, Mar Brenton G, Redd Robert, Wang Tao, Haagenson Michael D, Grauman Peter V, Hu Zhen-Huan, Spellman Stephen R, Lee Stephanie J, Verneris Michael R, Hsu Katharine, Fleischhauer Katharina, Cutler Corey, Antin Joseph H, Neuberg Donna, Ebert Benjamin |
Genetic Gastric Cancer Susceptibility in the International Clinical Cancer Genomics Community Research Network. Cancer genetics 2017 10 216-217 111-119. Slavin Thomas, Neuhausen Susan L, Rybak Christina, Solomon Ilana, Nehoray Bita, Blazer Kathleen, Niell-Swiller Mariana, Adamson Aaron W, Yuan Yate-Ching, Yang Kai, Sand Sharon, Castillo Danielle, Herzog Josef, Wu Xiwei, Tao Shu, Chavez Tanya, Woo Yanghee, Chao Joseph, Mora Pamela, Horcasitas Darling, Weitzel Jeffr |
Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia. Scientific reports 2020 9 10 (1): 14297. Kim Borahm, Yun Woobin, Lee Seung-Tae, Choi Jong Rok, Yoo Keon Hee, Koo Hong Hoe, Jung Chul Won, Kim Sun H |
A Prospective Study of Hematologic Complications and Long-Term Survival of Italian Patients Affected by Shwachman-Diamond Syndrome. The Journal of pediatrics 2020 Feb . Cesaro Simone, Pegoraro Anna, Sainati Laura, Lucidi Vincenzina, Montemitro Enza, Corti Paola, Ramenghi Ugo, Nasi Cristina, Menna Giuseppe, Zecca Marco, Danesino Cesare, Nicolis Elena, Pasquali Francesco, Perobelli Sandra, Tridello Gloria, Farruggia Piero, Cipolli Mar |
Autoimmune neutropenia associated with heterozygous variant of SBDS gene mimicking Shwachman-Bodian-Diamond syndrome. Leukemia & lymphoma 2021 6 62 (12): 3047-3050. Rother Conn, Gebauer Niklas, Schneider Juliane, Bauer Arthur, Holzhausen Fabian, Mayer Thomas, Riecke Armin, Müller Matthias, Merz Hartmut, Steinestel Konrad, Witte Hanno |
[Predisposition and progression of myelodysplastic syndromes]. [Rinsho ketsueki] The Japanese journal of clinical hematology 2021 5 62 (4): 278-288. Makishima Hide |
Hematologic complications with age in Shwachman-Diamond syndrome. Blood advances 2021 Nov . Furutani Elissa, Liu Shanshan, Galvin Ashley, Steltz Sarah, Malsch Maggie M, Loveless Sara K, Mount Leann, Larson Jordan H, Queenan Kelan, Bertuch Alison A, Fleming Mark D, Gansner John M, Geddis Amy E, Hanna Rabi, Keel Sioban B, Lau Bonnie W, Lipton Jeffrey M, Lorsbach Robert, Nakano Taizo A, Vlachos Adrianna, Wang Winfred C, Davies Stella M, Weller Edie, Myers Kasiani C, Shimamura Aki |
Overcoming the Pitfalls of Next-Generation Sequencing-Based Molecular Diagnosis of Shwachman-Diamond Syndrome. The Journal of molecular diagnostics : JMD 2022 9 24 (12): 1240-1253. Peng Xiaomin, Dong Xinran, Wang Yaqiong, Wu Bingbing, Wang Huijun, Lu Wei, Xiao Feifan, Yang Lin, Li Gang, Zhou Wenhao, Liu Bo, Lu Yul |
Improved detection of SBDS gene mutation by a new method of next-generation sequencing analysis based on the Chinese mutation spectrum. PloS one 2022 12 17 (12): e0269029. Wu Dong, Zhang Li, Qiang Yuzhen, Wang Kai |
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 |
Germline mutations in pediatric cancer cohort with mixed-ancestry Mexicans. Molecular genetics & genomic medicine 2023 12 e2332. Oscar Alonso-Luna, Gabriela E Mercado-Celis, Jorge Melendez-Zajgla, Rodrigo Barquera, Marta Zapata-Tarres, Luis Enrique Juárez-Villegas, Elvia Cristina Mendoza-Caamal, Elianeth Rey-Helo, Socorro Aida Borges-Yañ |
Identification of pathogenic germline variants in a large Chinese lung cancer cohort by clinical sequencing. Molecular oncology 2023 10 . Zhe Yu, Zirui Zhang, Jun Liu, Xiaoying Wu, Xiaojun Fan, Jiaohui Pang, Hua Bao, Jiani Yin, Xue Wu, Yang Shao, Zhengcheng Liu, Fang L |
Genetic backgrounds and clinical characteristics of congenital neutropenias in Israel. European journal of haematology 2024 4 . Lital Yeshareem, Joanne Yacobovich, Asaf Lebel, Sharon Noy-Lotan, Orly Dgany, Tanya Krasnov, Galit Berger Pinto, Nino Oniashvili, Jacques Mardoukh, Bella Bielorai, Ruth Laor, Noa Mandel-Shorer, Ayelet Ben Barak, Carina Levin, Mahdi Asleh, Hagit Miskin, Shoshana Revel-Vilk, Dror Levin, Marganit Benish, Tsila Zuckerman, Ofir Wolach, Idit Pazgal, Dafna Brik Simon, Oded Gilad, Asaf David Yanir, Tracie Alison Goldberg, Shai Izraeli, Hannah Tamary, Orna Steinberg-Shem |
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- Page last updated:Apr 22, 2024
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