Results 91 to 100 of about 199,361 (374)

Clinical Importance of Pericentric Inversion of Chromosome 9: A Case Report of Miscarriage and Neonatal Death

open access: yesمجله دانشکده پزشکی اصفهان, 2011
• Background: In this article, we report a non consanguineous normal couple that had a history of one abortion and a death of 3 years old daughter. • Case report: After genetic counseling and drawing the familial pedigree, we found that man's mother had ...
Nayereh Nouri   +2 more
doaj  

Texas Physicians\u27 Awareness and Utilization of Genetic Services [PDF]

open access: yes, 2015
The number of disorders for which genetic testing is available has increased nearly 500% in the past 15 years. Access to the majority of genetic tests and services hinges on physicians’ ability to identify patients at risk for genetic disease and provide
Jenevein, Callie L
core   +1 more source

KRAS and GNAS mutations in cell‐free DNA and in circulating epithelial cells in patients with intraductal papillary mucinous neoplasms—an observational pilot study

open access: yesMolecular Oncology, EarlyView.
This study demonstrates that KRAS and GNAS mutations are more prevalent in patients with resected intraductal papillary mucinous neoplasms (IPMN) compared to those under clinical surveillance. GNAS mutations significantly differ between the two patient cohorts, indicating that their absence may serve as a potential biomarker to support conservative ...
Christine Nitschke   +12 more
wiley   +1 more source

Attitudes Toward Updated Genetic Testing Among Patients with Unexplained Mismatch Repair Deficiency [PDF]

open access: yes, 2018
Individuals who have colorectal cancer (CRC) or endometrial cancer (EC) displaying loss of immunohistochemical (IHC) staining of one or more mismatch repair (MMR) proteins without a causative germline mutation are said to have unexplained mismatch repair
Omark, Jessica
core   +1 more source

On‐treatment dynamics of circulating extracellular vesicles in the first‐line setting of patients with advanced non‐small cell lung cancer: the LEXOVE prospective study

open access: yesMolecular Oncology, EarlyView.
The LEXOVE prospective study evaluated plasma cell‐free extracellular vesicle (cfEV) dynamics using Bradford assay and dynamic light scattering in metastatic non‐small cell lung cancer patients undergoing first‐line treatments, correlating a ∆cfEV < 20% with improved median progression‐free survival in responders versus non‐responders.
Valerio Gristina   +17 more
wiley   +1 more source

Integrative transcriptomic analysis identifies emetine as a promising candidate for overcoming acquired resistance to ALK inhibitors in lung cancer

open access: yesMolecular Oncology, EarlyView.
We propose an efficient strategy to suppress ALK inhibitor (ALKi) resistance. By analyzing transcriptome data, we identified emetine as a potential inhibitor. We demonstrated that emetine exhibited effectiveness in inhibiting the growth of ALKi‐resistant cells, and further interpreted its impact on the resistant signatures through drug‐induced RNA ...
Sang‐Min Park   +8 more
wiley   +1 more source

Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period

open access: yesIranian Journal of Public Health, 2019
Background: Diagnosis of hereditary hearing loss (HHL) as a heterogeneous disorder is very important espe-cially in countries with high rates of consanguinity where the autosomal recessive pattern of inheritance is preva-lent.
Niloofar BAZAZZADEGAN   +18 more
doaj   +1 more source

Cellular liquid biopsy provides unique chances for disease monitoring, preclinical model generation and therapy adjustment in rare salivary gland cancer patients

open access: yesMolecular Oncology, EarlyView.
We quantified and cultured circulating tumor cells (CTCs) of 62 patients with various cancer types and generated CTC‐derived tumoroid models from two salivary gland cancer patients. Cellular liquid biopsy‐derived information enabled molecular genetic assessment of systemic disease heterogeneity and functional testing for therapy selection in both ...
Nataša Stojanović Gužvić   +31 more
wiley   +1 more source

Primary extranodal diffuse large B‐cell lymphoma: Molecular features, treatment, and prognosis

open access: yesAging and Cancer, Volume 3, Issue 3-4, Page 133-146, September-December 2022., 2022
One‐third of DLBCL arises from extranodal organs and is challenging to manage. Molecular features are critical to elucidate the differences in clinical features, predict the disease prognosis, and improve effective targeted therapeutic strategies. Abstract Diffuse large B‐cell lymphoma (DLBCL) is the most common subtype of non‐Hodgkin's lymphoma and ...
Si‐Yuan Chen   +3 more
wiley   +1 more source

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