4 Result(s)
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Article
Open AccessGenetic risk variants in New Yorkers of Puerto Rican and Dominican Republic heritage with Parkinson’s disease
There is a paucity of genetic characterization in people with Parkinson’s disease (PD) of Latino and Afro-Caribbean descent. Screening LRRK2 and GBA variants in 32 New Yorkers of Puerto Rican ethnicity with PD an...
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Article
Open AccessRare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration
Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyotrophic lateral sclerosis (ALS) and Paget disease of bone. In the present study, we analyzed the SQSTM1 coding se...
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Article
Molecular characterization of parathyroid tumors from two patients with hereditary colorectal cancer syndromes
The tumor suppressor adenomatous polyposis coli (APC) has recently been implicated in parathyroid development. We here report clinical, histopathological and molecular investigations in parathyroid tumors aris...
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Article
Primary Pulmonary Hypertension in Children May Have a Different Genetic Background Than in Adults
Mutations of the bone morphogenetic protein receptor II (BMPR2) gene on chromosome 2q33 can cause familial primary pulmonary hypertension (PPH) and may occur in 26% adult patients with sporadic disease. Other dis...
