Results 91 to 100 of about 34,914 (256)

Age‐Specific Diagnostic Panorama Among People With Intellectual Disabilities in Comparison With the General Population: A Longitudinal Register Study (IDcare)

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background People with intellectual disabilities (ID) are known to have a higher risk for a wide range of health conditions compared to the general population. However, there is little research comparing a more comprehensive range of diseases and conditions at different ages.
Magnus Sandberg, Jimmie Kristensson, Anna Axmon   +2 more
wiley   +1 more source

Identification of Germline Mismatch Repair Gene Mutations in Lung Cancer Patients With Paired Tumor-Normal Next Generation Sequencing: A Retrospective Study

Frontiers in Oncology, 2019
Background: Paired tumor-normal targeted next-generation sequencing (NGS) is primarily used to identify actionable somatic mutations, but can also detect germline variants including pathogenic germline mutations in DNA mismatch repair (MMR) genes that ...
Sibo Sun, Yiqian Liu, Ann-Kathrin Eisfeld, Fuxi Zhen, Shidai Jin, Wen Gao, Tongfu Yu, Liang Chen, Wei Wang, Wei Chen, Mingming Yuan, Rongrong Chen, Kai He, Renhua Guo   +13 more
doaj   +1 more source

No Evidence of Microsatellite Instability in Head and Neck Squamous Cell Carcinoma of Non‐Smokers and Non‐Drinkers

Journal of Oral Pathology &Medicine, EarlyView.
ABSTRACT Introduction While the prevalence of microsatellite instability (MSI) is low in the whole head and neck squamous cell carcinoma (HNSCC) population, it has been suggested to be more prominent in tumors of non‐smokers. Therefore, the goal of this study was to determine the presence of MSI in a cohort of well‐defined HNSCC of non‐smokers and non ...
F. J. Mulder, T. F. B. Gielgens, E. J. de Ruiter, R. de Bree, M. F. C. M. van den Hout, B. Kremer, S. M. Willems, E. J. M. Speel   +7 more
wiley   +1 more source

Prepregnancy Overweight and Obesity in Kuwait Birth Cohort Study

Public Health Nursing, EarlyView.
ABSTRACT Objectives This study aimed to estimate the prevalence of prepregnancy obesity and overweight, and to identify a set of sociodemographic factors that could guide weight management interventions for women prior to conception. Design, Sample, and Measurements Pregnant women (N = 989) were recruited in the Kuwait Birth Cohort Study during the ...
Abdullah Al‐Taiar, Ali H. Ziyab, Eelaf A. Husain, Maryam M. Y. Mohammad, Maryem A. Shamsah, Noor Salah AlAli, Reem Sharaf‐Alddin, Majeda S. Hammoud   +7 more
wiley   +1 more source

PD57-05 UNIVERSAL POINT OF CARE TESTING FOR LYNCH SYNDROME IN PATIENTS WITH UPPER TRACT UROTHELIAL CARCINOMA [PDF]

, 2017
Michael Metcalfe, Firas G. Petros, Priya Rao, Maureen E. Mork, Lianchun Xiao, Russell R. Broaddus, Surena F. Matin   +6 more
openalex   +1 more source

Clinical characteristics of pancreatic and biliary tract cancers in Lynch syndrome: A retrospective analysis from the Finnish National Lynch Syndrome Research Registry [PDF]

, 2023
Kristina Zalevskaja, Jukka‐Pekka Mecklin, Toni T. Seppälä   +2 more
openalex   +1 more source

A comparison by mismatch repair status of real‐world characteristics and outcomes in patients with stage II/III rectal cancer in the Netherlands

International Journal of Cancer, Volume 158, Issue 4, Page 963-976, 15 February 2026.
What's new? Mismatch repair deficiency (dMMR) in rectal cancer is rare, and knowledge about tumor biological behavior, response to treatment, and clinical outcomes in this subset of patients is limited. This nationwide cohort study including 182 patients with dMMR rectal cancer found that they were younger and had more poorly differentiated tumors ...
Renee A. Lunenberg, Ingrid A. Franken, Frederieke H. van der Baan, Femke P. C. Sijtsma, Geraldine R. Vink, Manon N. G. J. A. Braat, Leon M. G. Moons, Miangela M. Lacle, Marloes A. G. Elferink, Susan Boklage, Martijn P. W. Intven, Jamie Garside, Miriam Koopman, Rob van Wuijtswinkel, Jeanine M. L. Roodhart   +14 more
wiley   +1 more source

The genetic basis of Lynch syndrome and its implications for clinical practice and risk management

The Application of Clinical Genetics, 2014
Stephanie A Cohen,1 Anna Leininger2 1Cancer Genetics Risk Assessment Program, St Vincent Health, Indianapolis, IN, USA; 2Minnesota Oncology, Woodbury, MN, USA Abstract: Lynch syndrome is the most common cause of hereditary colon cancer, and accounts for
Cohen SA, Leininger A
doaj  

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 502-510, February 2026.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

CNV and RNA analysis reveal a germline pathogenic duplication of MSH2 exon 15 in a family with Lynch syndrome: A case report [PDF]

, 2023
Κωνσταντίνος Αγιαννιτόπουλος
openalex   +1 more source