Articles with "genetic profiling" as a keyword



Genetic profiling of Wilson disease reveals a potential recurrent pathogenic variant of ATP7B in the Jordanian population.

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Published in 2025 at "Journal of pediatric gastroenterology and nutrition"

DOI: 10.1002/jpn3.12446

Abstract: OBJECTIVES Wilson disease (WD) is an autosomal-recessive disorder that disrupts copper homeostasis. ATPase copper transporting beta (ATP7B) gene is implicated as the disease-causing gene in WD. The common symptoms associated with WD include hepatic, neurological,… read more here.

Keywords: genetic profiling; variant atp7b; atp7b; wilson disease ... See more keywords
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The effects of genetic profiling on eating behaviour

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Published in 2017 at "Proceedings of the Nutrition Society"

DOI: 10.1017/s0029665117002841

Abstract: Abstract presented at Summer Meeting, 10–12 July 2017, Improving Nutrition in Metropolitan Areas. read more here.

Keywords: genetic profiling; profiling eating; eating behaviour; effects genetic ... See more keywords
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Genetic profiling in acute myeloid leukemia: a path to predicting treatment outcome

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Published in 2018 at "Expert Review of Hematology"

DOI: 10.1080/17474086.2018.1475225

Abstract: ABSTRACT Introduction: Despite substantial progresses in acute myeloid leukemia (AML) diagnosis and treatment, at least half of patient will eventually die for the disease. In the last decades, the use of genetic and genomic approaches… read more here.

Keywords: myeloid leukemia; profiling acute; treatment; acute myeloid ... See more keywords

Genetic profiling of basal cell carcinomas

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Published in 2019 at "British Journal of Dermatology"

DOI: 10.1111/bjd.18281

Abstract: Basal cell carcinomas (BCCs or “rodent ulcers”) are the most common type of skin cancer and generally do not spread elsewhere on the body. They are not unusual in older people, but someone who develops… read more here.

Keywords: basal; basal cell; profiling basal; genetic profiling ... See more keywords

Optimizing the value of lenalidomide maintenance by genetic profiling - an analysis of 556 Myeloma XI trial patients.

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Published in 2022 at "Blood"

DOI: 10.1182/blood.2022018339

Abstract: Prediction of individual patient benefit from lenalidomide (Len) maintenance post autologous transplant (ASCT) remains challenging. We investigated here extended molecular profiling for outcome prediction in NCRI Myeloma XI (MyXI) trial patients. MyXI patients randomized to… read more here.

Keywords: len maintenance; maintenance; risk; trial patients ... See more keywords

A case report of small bowel adenocarcinoma with liver metastases: genetic profiling and clinical management

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Published in 2019 at "Translational cancer research"

DOI: 10.21037/29537

Abstract: Small bowel adenocarcinoma (SBA) is a rare cancer. Optimal treatment regimens have not been established for SBA. This is due in part to the low disease incidence and subsequently, the lack of large, properly designed,… read more here.

Keywords: genetic profiling; small bowel; clinical management; bowel adenocarcinoma ... See more keywords

Genetic profiling and precision skin care: a review

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Published in 2025 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2025.1559510

Abstract: Skin aging is a multifaceted biological phenomenon driven by intrinsic and extrinsic factors, including genetics, hormonal changes, metabolic shifts, and environmental influences. Notably, genetic factors play a significant role, explaining up to 60% of the… read more here.

Keywords: genetics; profiling precision; skin aging; skin care ... See more keywords

Genetic Profiling of Polymicrogyria in a South Indian Cohort

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Published in 2025 at "Annals of Indian Academy of Neurology"

DOI: 10.4103/aian.aian_1096_24

Abstract: Polymicrogyria (PMG) represents a complex disorder involving malformation of the cortex. There have not been any comprehensive genetic studies of PMG from India. Here, we have done a whole-exome sequencing (WES) study of the PMG… read more here.

Keywords: polymicrogyria south; south indian; pmg; study ... See more keywords