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Functional Characterization of a Genetic Variant in the 5′ UTR of APC 1B Promoter in a Familial Adenomatous Polyposis Family

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic germline variants in the APC gene result in familial adenomatous polyposis (FAP) which can escalate into colon cancer. Standard clinical testing failed to identify pathogenic variants in a 4‐generation FAP family. We identified and assessed co‐segregation of a 5′ untranslated region (UTR) variant, NM_001127511.3 (APC) c.‐40G>A ...
Brendon Young +9 more
wiley +1 more source

Cyclospora Genotypic Variations and Associated Epidemiologic Characteristics, United States, 2018-2021. [PDF]

Emerg Infect Dis
Shen J +4 more
europepmc +1 more source

Epidemiological methods: Italian contributions.

Epidemiologia e prevenzione, 2010
F. Barbone, BIGGERI, ANNIBALE, CATELAN, DOLORES +2 more
openaire +4 more sources

Clostridium difficile in a geriatric unit: a prospective epidemiological study employing a novel S-layer typing method

, 2003
J. McCoubrey +3 more
openalex +1 more source

Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT No validated oral health‐related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabilities and who communicate non‐verbally. This qualitative study aimed to explore the domains that were important to the oral health‐related quality of life in individuals with Rett syndrome (RTT).
Yvonne Yee Lok Lai +4 more
wiley +1 more source

Antidepressants and antibiotic resistance in urine cultures: a cohort study. [PDF]