Impairment of early neuronal maturation in anti-NMDA-receptor encephalitis.
Sign Up to like & getrecommendations! Published in 2021 at "Psychopharmacology"
DOI: 10.1007/s00213-021-06036-x
Abstract: RATIONALE Adequate immunotherapies for anti-NMDAR encephalitis during pregnancy produce a relatively good clinical outcome for pregnant mothers and their infants, but there are no reports about the future growth of their babies. The damage of… read more here.
Keywords: patient; anti nmdar; encephalitis; index patient ... See more keywords
Abstract 1002: BRCA2, ATM, and POT1 genes mutations in Chilean hereditary gastric cancer families
Sign Up to like & getrecommendations! Published in 2025 at "Cancer Research"
DOI: 10.1158/1538-7445.am2025-1002
Abstract: The purpose of this study is to describe Chilean families having hereditary Gastric Cancer (GC) presenting pathogenic mutations in BRCA 2 (c.4740_4741dup NP_000050.3:p.Glu1581fs), ATM (c.3381_3384del NP_000042.3:p.Gln1128fs) and Protector of Telomers 1 (POT1, 1087C>T:p.Arg363Ter) genes. Only… read more here.
Keywords: cancer; index patient; gastric cancer; pot1 ... See more keywords
Identification of a Novel COL4A4 Variant in Compound-Heterozygous State in a Patient With Alport Syndrome and Histological Findings Similar to Focal Segmental Glomerulosclerosis (FSGS)
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2018.00748
Abstract: Alport syndrome (AS) is a rare and inherited renal disorder with an autosomal recessive mode of inheritance. AS patients usually manifest with hematuria and progressive renal disorder also occasionally accompanied by hearing loss and ophthalmic… read more here.
Keywords: alport syndrome; index; variant; index patient ... See more keywords