Genotype–phenotype correlates in Joubert syndrome: A review

S Gana, V Serpieri, EM Valente - American Journal of Medical …, 2022 - Wiley Online Library
Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a
pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable …

Many genes—one disease? Genetics of Nephronophthisis (NPHP) and NPHP-associated disorders

S Srivastava, E Molinari, S Raman, JA Sayer - Frontiers in pediatrics, 2018 - frontiersin.org
Nephronophthisis (NPHP) is a renal ciliopathy and an autosomal recessive cause of cystic
kidney disease, renal fibrosis, and end-stage renal failure, affecting children and young …

The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity

MA Parisi - Translational science of rare diseases, 2019 - content.iospress.com
Abstract Joubert syndrome (JS; MIM PS213300) is a rare, typically autosomal recessive
disorder characterized by cerebellar vermis hypoplasia and a distinctive malformation of the …

Nephronophthisis: a pathological and genetic perspective

MTF Wolf, SM Bonsib, CP Larsen, F Hildebrandt - Pediatric Nephrology, 2024 - Springer
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and is one of the
most frequent genetic causes for kidney failure (KF) in children and adolescents. Over 20 …

Nephronophthisis: A review of genotype–phenotype correlation

F Luo, YH Tao - Nephrology, 2018 - Wiley Online Library
Nephronophthisis is an autosomal recessive cystic kidney disease and one of the most
common genetic disorders causing end‐stage renal disease in children. Nephronophthisis …

Healthcare recommendations for Joubert syndrome

R Bachmann‐Gagescu, JC Dempsey… - American journal of …, 2020 - Wiley Online Library
Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a
characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic …

Kidney failure in Bardet–Biedl syndrome

JR Meyer, AD Krentz, RL Berg, JG Richardson… - Clinical …, 2022 - Wiley Online Library
The aim of this study was to explore kidney failure (KF) in Bardet–Biedl syndrome (BBS),
focusing on high‐risk gene variants, demographics, and morbidity. We employed the …

[HTML][HTML] Rediscovering primary cilia in pancreatic islets

EY Lee, JW Hughes - Diabetes & Metabolism Journal, 2023 - ncbi.nlm.nih.gov
Primary cilia are microtubule-based sensory and signaling organelles on the surfaces of
most eukaryotic cells. Despite their early description by microscopy studies, islet cilia had …

[HTML][HTML] Joubert syndrome: ophthalmological findings in correlation with genotype and hepatorenal disease in 99 patients prospectively evaluated at a single center

BP Brooks, WM Zein, AH Thompson, M Mokhtarzadeh… - Ophthalmology, 2018 - Elsevier
Purpose Joubert syndrome (JS) is caused by mutations in> 34 genes that encode proteins
involved with primary (nonmotile) cilia and the cilium basal body. This study describes the …

Joubert syndrome: molecular basis and treatment

L Spahiu, E Behluli, V Grajçevci-Uka, T Liehr… - Journal of Mother and …, 2022 - sciendo.com
Joubert syndrome (JS, MIM PS213300) is a neurodevelopment disease which is
characterized by malformation in the cerebellum and brainstem, recognizable on axial brain …