Results 101 to 110 of about 11,057 (243)
A clinician's guide to the diagnosis and management of kidney cysts
Internal Medicine Journal, Volume 55, Issue 10, Page 1752-1756, October 2025.Abstract Kidney cysts are frequently encountered as incidental findings on imaging studies and are typically benign in nature. However, certain cysts exhibit characteristics that may predispose them to malignant transformation. The Bosniak classification, based on contrast‐enhanced computed tomography or magnetic resonance imaging, offers a systematic ...
Kate Brotherton, Bobby Chacko
wiley +1 more source
Alström syndrome: current perspectives
The Application of Clinical Genetics, 2015 María Álvarez-Satta, Sheila Castro-Sánchez, Diana Valverde Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain Abstract: Alström syndrome (ALMS)
Álvarez-Satta M +2 more
doaj
Translational Science of Rare Diseases, 2019 Joubert syndrome (JS; MIM PS213300) is a rare, typically autosomal recessive disorder characterized by cerebellar vermis hypoplasia and a distinctive malformation of the cerebellum and brainstem identified as the “molar tooth sign” on brain MRI.
M. Parisi
semanticscholar +1 more source
Počki, 2016 Primary cilia — the cellular organelles derived from cytoplasmic cell membrane of almost any type. They play a role in the perception and the transfer of mechanical and chemical signals from the surface of cells, orientation of division plane ...
O.O. Diadyk +2 more
doaj +1 more source
A Longitudinal Case Study of Renal Cyst Progression and Regression in Trisomy 13
Clinical Case Reports, Volume 13, Issue 9, September 2025.Multiple T2‐weighted high‐signal‐intensity structures were observed in both kidneys accompanied by bilateral renal enlargement in a male neonate with trisomy 13. ABSTRACT Trisomy 13 is a chromosomal disorder frequently associated with congenital anomalies, including polycystic kidney disease (PKD).
Fumiko Yamabe +4 more
wiley +1 more source
Identification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing
Molecular Genetics &Genomic Medicine, Volume 13, Issue 9, September 2025.Our study identified mutations in genes in families associated with different eye disorders. We also explored the effect of a novel variant identified in the ALMS1 gene by using patient‐specific cells. Finally, previously published data was compiled to establish the genotype–phenotype relation.
Afeefa Jarral +5 more
wiley +1 more source
New functions of B9D2 in tight junctions and epithelial polarity
Scientific ReportsCiliopathies are a diverse group of disorders resulting from abnormalities in the development or function of multiple organs. While significant research has clarified the role of the primary cilium in transducing numerous signalling pathways, elucidating
Chloe Caenen-Braz +2 more
doaj +1 more source
The emerging role of tubulin posttranslational modifications in cilia and ciliopathies
Biophysics Reports, 2020 Tubulin posttranslational modifications (PTMs) add “tubulin code” to generate functional diversities of microtubules. Several types of tubulin PTMs accumulate on axonemes and basal bodies of cilia, including acetylation, glutamylation, glycylation and ...
Kun Ling Jinghua Hu Kai He
semanticscholar +1 more source
Prenatal Diagnosis, Volume 45, Issue 10, Page 1351-1358, September 2025.ABSTRACT This manuscript summarises the debate held at the 2024 annual meeting of The International Society for Prenatal Diagnosis (ISPD). Experts discussed whether all fetuses undergoing fetal therapy should undergo exome sequencing. Arguments in favor included that, with increasing experience and better clinical availability, exome sequencing can ...
Teresa N. Sparks +2 more
wiley +1 more source
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Kidney International, 2023 Friederike Petzold +21 more
semanticscholar +1 more source