{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Al-Hamed MH"],"funding":["Medical Research Council"],"pagination":["338-47"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4853542"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["53(5)"],"pubmed_abstract":["<h4>Background</h4>Inherited cystic kidney disorders are a common cause of end-stage renal disease. Over 50 ciliopathy genes, which encode proteins that influence the structure and function of the primary cilia, are implicated in cystic kidney disease.<h4>Methods</h4>To define the phenotype and genotype of cystic kidney disease in fetuses and neonates, we correlated antenatal ultrasound examination and postnatal renal ultrasound examination with targeted exon sequencing, using a renal gene panel. A cohort of 44 families in whom antenatal renal ultrasound scanning findings in affected cases included bilateral cystic kidney disease, echogenic kidneys or enlarged kidneys was investigated.<h4>Results</h4>In this cohort, disease phenotypes were severe with 36 cases of stillbirth or perinatal de"],"journal":["Journal of medical genetics"],"pubmed_title":["Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel."],"pmcid":["PMC4853542"],"funding_grant_id":["MR/M012212/1"],"pubmed_authors":["Meyer B","Sayer JA","Khalil D","El-Kalioby M","Alabdullah Z","Abudraz R","Binhumaid FS","Majid S","Al-Hamed MH","Kurdi W","Edwards N","Alnemer M","Al-Jurayb H","Tulbah M","Alsahan N","Monies D","Faquih T","Tahir AI","Alahmed A","Altassan N","Albaqumi M","Khan R","Al Abdulaziz B","Abouelhoda M"],"additional_accession":[]},"is_claimable":false,"name":"Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.","description":"<h4>Background</h4>Inherited cystic kidney disorders are a common cause of end-stage renal disease. Over 50 ciliopathy genes, which encode proteins that influence the structure and function of the primary cilia, are implicated in cystic kidney disease.<h4>Methods</h4>To define the phenotype and genotype of cystic kidney disease in fetuses and neonates, we correlated antenatal ultrasound examination and postnatal renal ultrasound examination with targeted exon sequencing, using a renal gene panel. A cohort of 44 families in whom antenatal renal ultrasound scanning findings in affected cases included bilateral cystic kidney disease, echogenic kidneys or enlarged kidneys was investigated.<h4>Results</h4>In this cohort, disease phenotypes were severe with 36 cases of stillbirth or perinatal de","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 May","modification":"2026-05-29T23:36:31.143Z","creation":"2025-05-18T10:34:40.876Z"},"accession":"S-EPMC4853542","cross_references":{"pubmed":["26862157"],"doi":["10.1136/jmedgenet-2015-103469"]}}