Background Molecular genetic diagnoses are critical to prevention and treatment of inherited polyposis and colorectal cancer. 19 genes responsible for these conditions are known, but many severely ...

Kuwait has a cosmopolitan population of 1.7 million, mostly Arabs. This population is a mosaic of large and small minorities representing most Arab communities. In general, Kuwait's population is ...

Morison LD, Kennis MG, Rots D, et al. Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.Journal of Medical Genetics 2024;61:578-585.. This article has ...

Background Advances in prostate cancer (PCa) research have revealed dozens of genetic markers for inherited risk. Germline genetic testing (GGT) enhances patient care by guiding therapeutic decisions ...

Immunotherapy has emerged as one of the standard treatment modalities against cancer along with surgery, radiotherapy, chemotherapy and targeted therapy. Cancer immunotherapy harnesses the immune ...

Background T cell dysfunction occurs in many diseases, especially in chronic virus infection and cancers. However, up to now, little is known on the distinctions in T cell exhaustion between cancer ...

Background: A common missense variant of the CDKN2A gene (A148T) predisposes to malignant melanoma in Poland. An association between malignant melanoma and breast cancer has been reported in several ...

Biallelic pathogenic TULP3 variants presenting as neonatal cholestasis, liver fibrosis and neurological manifestations ...

Nail patella syndrome (NPS) is an autosomal dominant condition affecting the nails, skeletal system, kidneys, and eyes. Skeletal features include absent or hypoplastic patellae, patella dislocations, ...

The interaction of symptomatology (rigidity/chorea) in Huntington's disease (HD) with age of onset (AO) was examined using data from the Research Roster for Huntington's Disease Patients and Families.

Methods We collected 11 whole placentas carrying various mtDNA mutations (m.3243A>G, m.8344A>G, m.8993T>G, m.9185T>C and m.10197G>A) and, when possible, corresponding amniotic fluid samples (AFSs) and ...

Background Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterised by the development of multiple schwannomas, especially on vestibular nerves, and meningiomas. The UK NF2 ...