Results 51 to 60 of about 7,409 (168)
Management of Azoospermia: A Systematic Approach
The Obstetrician &Gynaecologist, EarlyView.ABSTRACT Key Content Work‐up of azoospermic men includes a detailed history, physical examination and investigations to find the underlying cause. Causes and management of azoospermia (pre‐testicular, testicular and post‐testicular) with case presentations.
Naimah Raza +3 more
wiley +1 more source
Vision Loss Case of Bardet Biedl Syndrome
, 2018 We would like to report a rare case of Bardet Biedl Syndrome of a women forty-three years, known case of Retinitis pigmentosa presented for medical report, after ocular and systemic assessment we found she is obese, moon face, and has extra toes of both ...
Bahttab S (5150210) +5 more
core +1 more source
A Quarter Century of EHD Protein Research: From Endosomal Recycling to Ciliopathies
Traffic, Volume 27, Issue 3, September 2026.Human EHD protein subcellular localization. ABSTRACT Eps15 homology domain‐containing proteins comprise a conserved family of membrane‐remodeling ATPases that regulate endocytic trafficking, membrane fission, receptor recycling, primary ciliogenesis and membrane dynamics across eukaryotes. Since the initial identification of EHD1 and its Caenorhabditis
Devin Frisby +3 more
wiley +1 more source
Megaloblastic Anemia in Bardet-Biedl Syndrome: A Rare Case Report
Clinical Medicine Insights: Case Reports, 2023 Background: Bardet-Biedl syndrome (BBS) also known as Laurence-Moon-Bardet-Biedl syndrome one of the rarely reported genetic disorder characterized by an intellectual disability, limb, kidney abnormalities, obesity, and Rod-cone dystrophy.
Subtain Hassan +8 more
doaj +1 more source
Phenotypic Expansion and Molecular Implications in Recessive FUZ ‐Related Ciliopathy
Clinical Genetics, Volume 110, Issue 2, Page 236-241, August 2026.Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa +4 more
wiley +1 more source
Alzheimer's &Dementia, Volume 22, Issue 7, July 2026.Abstract Alzheimer's disease (AD) is a neurodegenerative condition marked by cognitive decline and synaptic issues. Recent studies show primary cilia (PCs), sensory organelles present on the surface of most mammalian cells, act as a critical regulators of brain homeostasis and signaling.
Vishal Singh Guleria +1 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.This study reports the documented case of ABCA4‐associated early‐onset severe retinal dystrophy in China, broadens the mutational spectrum of ABCA4 in this population, and highlights distinct genotype–phenotype correlations that may inform clinical management and genetic counseling.
Nian Li +6 more
wiley +1 more source
Toward personalized medicine in Bardet-Biedl syndrome [PDF]
, 2017 Personalized medicine is becoming routine in the treatment of common diseases such as cancer, but has lagged behind in the field of rare diseases. It is currently in the early stages for the treatment of Bardet–Biedl syndrome.
Forsythe, E +7 more
core +1 more source
, 2023 In the brain, primary cilia are found on most, if not all, central neurons. The importance of neuronal cilia is underscored by the fact that human diseases caused by primary cilia dysfunction, which are known as ciliopathies, are associated with ...
Toneisha Stubbs (14347236) +3 more
core +1 more source
A Genotype–Phenotype Analysis of the Bardet–Biedl Syndrome in Puerto Rico
Clinical Ophthalmology, 2021 Gabriel A Guardiola,1 Fabiola Ramos,2 Natalio J Izquierdo,3 Armando L Oliver2 1Department of Medicine, Universidad Central del Caribe School of Medicine, Bayamon, PR, USA; 2Department of Ophthalmology, University of Puerto Rico School of Medicine ...
Guardiola GA +3 more
doaj