Novel Variants and Copy Number Variation in CDH1 Gene in Iranian Patients with Sporadic Diffuse Gastric Cancer
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Gastrointestinal Cancer"
DOI: 10.1007/s12029-018-0082-7
Abstract: IntroductionThe aim of this study was to survey the nucleotide changes and copy number variations (CNV) in the CDH1 gene in Iranian patients with sporadic diffuse gastric cancer (SDGC).Materials and MethodsIn this study, 28 patients… read more here.
Keywords: cdh1 gene; gene iranian; gastric cancer; iranian patients ... See more keywords
Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing.
Sign Up to like & getrecommendations! Published in 2017 at "International journal of pediatric otorhinolaryngology"
DOI: 10.1016/j.ijporl.2017.04.016
Abstract: Lacrimo-auriculo-dento-digital syndrome (LADD) is a multiple congenital anomaly and a genetically heterogeneous disorder. The aim of this study was to identify the pathogenic gene in an Iranian family with LADD syndrome and review the literature… read more here.
Keywords: gene iranian; family; fgfr3; gene ... See more keywords
A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations.
Sign Up to like & getrecommendations! Published in 2023 at "Nephron"
DOI: 10.1159/000528344
Abstract: INTRODUCTION Dent's disease is an X-linked inherited renal tubular disorder characterized by proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets, and end-stage renal disease. Almost 60% of patients have causative mutations in the CLCN5 gene (Dent 1), and… read more here.
Keywords: gene iranian; dent disease; clcn5 gene; iranian patients ... See more keywords