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Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
Two novel genes, SOS2 and LZTR1, associated with Noonan syndrome are identified, thereby expanding the molecular spectrum of RASopathies and additional functional studies are needed to elucidate the role of LZ TR1 in RAS/MAPK signalling and in the pathogenesis of Noonan Syndrome. Expand
Exomic variants of an elderly cohort of Brazilians in the ABraOM database
A collection of exomic variants from 609 elderly Brazilians in a census‐based cohort (SABE609) with comprehensive phenotyping is presented and incidence estimation for prevalent recessive disorders based upon heterozygous frequency is conducted and concluded that it relies on appropriate pathogenicity assertion. Expand
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).
A novel association between a muscular disorder and a RNA-related gene is presented and the importance of RNA binding/processing proteins in muscle development and muscle disease is reinforced. Expand
Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells
The results indicate that CZS is not a stochastic event and depends on NPC intrinsic susceptibility, possibly related to oligogenic and/or epigenetic mechanisms, and excludes a monogenic model to explain resistance or increased susceptibility. Expand
Schinzel–Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features
Two unrelated Brazilian patients with Schinzel–Giedion syndrome are described, one of them carrying a novel mutation and a review of clinical manifestations of the syndrome, comparing their cases to patients reported in literature emphasizing the importance of the facial gestalt associated with neurological involvement for diagnostic suspicion of this syndrome. Expand
p27 variant and corticotropinoma susceptibility: a genetic and in vitro study.
The genetic and in vitro data indicate that the common polymorphism p27-V109G may play a role in corticotropinoma susceptibility and tumorigenesis through a molecular mechanism not fully understood thus far. Expand
Chronic Traumatic Encephalopathy Presenting as Alzheimer's Disease in a Retired Soccer Player.
Clinopathological correlations in an 83-year-old retired center-back soccer player, with no history of concussion, show mixed pathology including widespread CTE, moderate Alzheimer's disease, hippocampal sclerosis, and TDP-43 proteinopathy, corroborates that CTE may present clinically as typical Alzheimer-type dementia. Expand
Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility
The literature review revealed that limited analyses have led to the misclassification of RET Y791F as a probable pathogenic variant and, consequently, to the occurrence of unnecessary thyroidectomies, and the current study reveals, in a comprehensive manner, that RET Y 791F only shows no association with MTC susceptibility. Expand
Association between the p27 rs2066827 variant and tumor multiplicity in patients harboring MEN1 germline mutations.
The p27 tumor suppressor gene acts as a disease modifier for the MEN1 syndrome associated with MEN1 germline mutations, and if confirmed in independent patient cohorts, this finding could facilitate the management of this clinically complex disease. Expand
Association between the p 27 rs 2066827 variant and tumor multiplicity in patients harboring MEN 1 germline mutations
Objective: To date, no evidence of robust genotype–phenotype correlation or disease modifiers for multiple endocrine neoplasia type 1 (MEN1) syndrome has been described, leaving the highly variableExpand