Results 81 to 90 of about 320,413 (381)

Genetic and Epigenetic Etiology of Inflammatory Bowel Disease: An Update

Genes, 2022
Inflammatory bowel disease (IBD) is a chronic disease with periods of exacerbation and remission of the disease. The etiology of IBD is not fully understood. Many studies point to the presence of genetic, immunological, environmental, and microbiological
Sara Jarmakiewicz-Czaja, M. Zielińska, A. Sokal, R. Filip   +3 more
semanticscholar   +1 more source

Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. [PDF]

, 2017
PurposeMany women with an elevated risk of hereditary breast and ovarian cancer have previously tested negative for pathogenic mutations in BRCA1 and BRCA2. Among them, a subset has hereditary susceptibility to cancer and requires further testing.
Adams, Sophie B, Chan, Salina, Crawford, Beth, Gil, Elad, Leitner, Ofri, Ryan, Lauren, Sittler, Taylor, van 't Veer, Laura, van den Akker, Jeroen   +8 more
core   +1 more source

Clinical Characteristics of Parkinsonism in HTLV‐1‐Associated Myelopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Human T‐lymphotropic virus type 1 (HTLV‐1)‐associated myelopathy/tropical spastic paraparesis (HAM/TSP) is the classic neurological manifestation of HTLV‐1 infection; however, this virus has also been associated with other neurological disorders. Concurrent parkinsonism is relatively rare and presents diagnostic challenges.
Mika Dozono, Satoshi Nozuma, Shota Hirakata, Takashi Yoshida, Daisuke Kodama, Masakazu Tanaka, Eiji Matsuura, Ryuji Kubota, Hiroshi Takashima   +8 more
wiley   +1 more source

Relationship between polymorphisms of DNA repair gene ERCC1 and susceptibility to lung cancer

Chinese Journal of Lung Cancer, 2008
Background and objective The recent studies have demonstrated that polymorphisms of DNA repair genes can impact the tumor susceptibility. So the susceptible group can be chosen through analysis of different genotype of DNA repair genes and maybe get the ...
Bo SU, Jie ZHANG, Liang TANG, Zengli ZHANG, Caicun ZHOU   +4 more
doaj  

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

Genetics of breast cancer: Contribution of BRCA1/2 genes alterations to hereditary predisposition [PDF]

Vojnosanitetski Pregled, 2012
nema
Branković-Magić Mirjana, Dobričić Jelena, Krivokuća Ana   +2 more
doaj   +1 more source

Sugar-sweetened beverage consumption and genetic predisposition to obesity in 2 Swedish cohorts

American Journal of Clinical Nutrition, 2016
Background: The consumption of sugar-sweetened beverages (SSBs), which has increased substantially during the last decades, has been associated with obesity and weight gain. Objective: Common genetic susceptibility to obesity has been shown to modify the
L. Brunkwall, Yan Chen, G. Hindy, Gull Rukh, U. Ericson, I. Barroso, I. Johansson, P. Franks, M. Orho-Melander, F. Renström   +9 more
semanticscholar   +1 more source

A Female Patient with Down Syndrome and Low-Penetrance Leber's Hereditary Optic Neuropathy. [PDF]

, 2014
We present the case of a 19-year-old female with a history of Down syndrome (DS) who was referred to our neuro-ophthalmology clinic for evaluation of Leber's hereditary optic neuropathy (LHON).
Frousiakis, Starleen E, Karanjia, Rustum, Pouw, Andrew E, Sadun, Alfredo A   +3 more
core   +3 more sources

Analysis of the Longitudinal Behavior of Serum Levels of Soluble Flt1 and Placental Growth Factor in Pregnant Patients With Systemic Lupus Erythematosus

Arthritis Care &Research, EarlyView.
Objective This study analyzed longitudinal trajectories of soluble Flt1 (sFlt1) levels, placenta growth factor (PlGF) levels, and sFlt1:PlGF ratios in a cohort of pregnant patients with systemic lupus erythematosus (SLE). Methods Blood samples were collected (14–18, 24–26, 30–32, 34–36, and 38–40 weeks), stored at −80°C, and evaluated for serum levels ...
Nilson R. de Jesús, Guilherme R. de Jesús, Marcela I. Lacerda, Flávia C. dos Santos, Jeane de S Nogueira, Luiz Cristóvão Porto, Evandro S. F. Coutinho, Evandro M. Klumb   +7 more
wiley   +1 more source

Increased risk for other cancers in individuals with Ewing sarcoma and their relatives. [PDF]

, 2019
BackgroundThere are few reports of the association of other cancers with Ewing sarcoma in patients and their relatives. We use a resource combining statewide genealogy and cancer reporting to provide unbiased risks.MethodsUsing a combined genealogy of 2 ...
Abbott, Diana, Cannon-Albright, Lisa A, Farnham, James M, Jones, Kevin, Lessnick, Stephen L, O'Brien, Schuyler, Randall, R Lor, Schiffman, Joshua D, Yap, Jeffrey, Young, Erin L   +9 more
core   +1 more source