Zobrazeno 1 - 10
of 51 398
pro vyhledávání: '"gene mutation"'
Autor:
Shiyuan Wang, Jun Li, Ying Li, Xiaoming Liu, Lixian Chang, Beibei Zhao, Li Zhang, Yao Zou, Min Ruan, Xiaofan Zhu
Publikováno v:
Global Medical Genetics, Vol 11, Iss 03, Pp 214-219 (2024)
Cerebral venous sinus thrombosis (CVST) and hyperlipidemia are severe complications of L-Asparaginase (L-Asp) during the treatment of B-cell acute lymphoblastic leukemia (B-ALL). Herein, we reported a 9-year-old B-ALL boy who underwent abnormal hyper
Externí odkaz:
https://doaj.org/article/06015c21da73438fb6f8b624df18fedd
Publikováno v:
Molecular Cancer, Vol 23, Iss 1, Pp 1-10 (2024)
Abstract Background This study details a case of a patient with advanced lung adenocarcinoma harboring an exon 19 deletion in the EGFR gene. Method A 46-year-old female patient was diagnosed with stage IVb left lung adenocarcinoma, with multiple bone
Externí odkaz:
https://doaj.org/article/80d5d3af63ff41a699171a594dbaef19
Autor:
Eitan Halper-Stromberg, Victoria Stinnett, Laura Morsberger, Aparna Pallavajjala, Mark J. Levis, Amy E. DeZern, Michelle Lei, Brian Phan, Rena R. Xian, Christopher D. Gocke, Guilin Tang, Ying S. Zou
Publikováno v:
Experimental Hematology & Oncology, Vol 13, Iss 1, Pp 1-5 (2024)
Abstract 1q jumping translocation (JT) is rare and its molecular profiles in myeloid malignancies are not well-known. This study evaluated gene mutations in 1q-JT cohorts (0.38%) from hematological malignant specimens that underwent genetic analysis
Externí odkaz:
https://doaj.org/article/77a46d40981d4860855f1a65cee2f637
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)
Abstract Background With recent advances in gene sequencing technology, more than 60 genetic mutations associated with very early onset inflammatory bowel disease (VEO-IBD) have been reported. Most of the genes are associated with immune deficiencies
Externí odkaz:
https://doaj.org/article/f18f833ad5ff4d368a129785dd72d533
Autor:
Liliana-Georgiana Grigore, Viorica-Elena Radoi, Alexandra Serban, Adina Daniela Mihai, Ileana Stoica
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 5, Pp 4630-4645 (2024)
The objective of this study was to identify and classify the spectrum of mutations found in the BRCA1 and BRCA2 genes associated with breast and ovarian cancer in female patients in Romania. Germline BRCA1 and BRCA2 mutations were investigated in a c
Externí odkaz:
https://doaj.org/article/ebc12e26e0db4ac0912a59aed01a3115
Autor:
Lei Cao, Wencong Tian, Yongjie Zhao, Peng Song, Jia Zhao, Chuntao Wang, Yanhong Liu, Hong Fang, Xingqiang Liu
Publikováno v:
Global Medical Genetics, Vol 11, Iss 04, Pp 251-262 (2024)
Although gastrointestinal stromal tumors (GISTs) has been reported in patients of all ages, its diagnosis is more common in elders. The two most common types of mutation, receptor tyrosine kinase (KIT) and platelet-derived growth factor receptor a (P
Externí odkaz:
https://doaj.org/article/27a45c5ff0d545c584eec6ddde3be173
Publikováno v:
Zhenduanxue lilun yu shijian, Vol 23, Iss 03, Pp 305-312 (2024)
Objective To investigate the correlation between gene mutations and clinical features, prognosis, and the risk of acute myeloid leukemia (AML) transformation in patients with myelodysplastic syndrome (MDS). Methods We retrospectively analyzed clinica
Externí odkaz:
https://doaj.org/article/73f18dd8e9554aa19b968385141e11f2
Publikováno v:
Medičnì Perspektivi, Vol 29, Iss 2, Pp 229-236 (2024)
Funicular myelosis (subacute combined degeneration) is a disease characterized by the development of degeneration of the posterior and lateral cords of the spinal cord. Funicular myelosis is a neurological complication of vitamin B12 deficiency, wh
Externí odkaz:
https://doaj.org/article/eea3702a376a410994bf377e7424556c
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-5 (2024)
Abstract Hypereosinophilia is a rare presentation in all age groups, particularly when it is severe, persistent, and progressive. We describe the clinical characteristics and course of severe hypereosinophilia in a full-term Saudi female neonate. A f
Externí odkaz:
https://doaj.org/article/6b1bc15e47114b6683083c9a1389cc35