Results 41 to 50 of about 5,335 (170)

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Progression of Alport Kidney Disease in Col4a3 Knock Out Mice Is Independent of Sex or Macrophage Depletion by Clodronate Treatment. [PDF]

PLoS ONE, 2015
Alport syndrome is a genetic disease of collagen IV (α3, 4, 5) resulting in renal failure. This study was designed to investigate sex-phenotype correlations and evaluate the contribution of macrophage infiltration to disease progression using Col4a3 ...
Munkyung Kim, Alessandro Piaia, Neeta Shenoy, David Kagan, Berangere Gapp, Benjamin Kueng, Delphine Weber, William Dietrich, Iwona Ksiazek   +8 more
doaj   +1 more source

Simultaneous Bilateral Anterior and Posterior Lenticonus in Alport Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2017
Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities like anterior lenticonus, corneal opacities, cataract, central perimacular and peripheral coalescing fleck retinopathies, and ...
Ravi Kant Bamotra, Meenakshi, Prem Chandra Kesarwani, Shazia Qayum   +3 more
doaj   +1 more source

Prevalence and outcome of lens capsule disruption in routine canine cataract surgery: A retrospective study of 520 eyes (2012–2019)

Veterinary Ophthalmology, Volume 28, Issue 2, Page 141-149, March 2025.
Abstract Objective To investigate the prevalence and surgical outcome of lens capsule disruption (LCD) in dogs undergoing cataract removal. Animals studied Medical records of 924 eyes undergoing phacoemulsification were analyzed retrospectively. Procedures Routine cataract surgeries with or without LCD were included. Any LCD other than routine anterior
Amy L. M. M. Andrews, Christiane Kafarnik, Maria‐Christine Fischer   +2 more
wiley   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Persistent Haematuria Is Associated With Reduced Kidney Survival in Primary Podocytopathies

Nephrology, Volume 31, Issue 8, August 2026.
ABSTRACT Aim Haematuria is frequently present in podocytopathies, but its significance and prognostic value are not well described. This study aimed to determine the prevalence and association between persistent haematuria and kidney survival in patients with membranous nephropathy (MN), minimal change disease (MCD) and focal segmental ...
Gabriel Ștefan, Nicoleta Petre, Adrian Zugravu, Simona Stancu   +3 more
wiley   +1 more source

Case report: Unilateral panuveitis as a manifestation of Alport syndrome in a Chinese pediatric patient

Frontiers in Genetics, 2022
Purpose: The study aimed to report a rare case of a patient with Alport syndrome, which was manifested as unilateral non-infectious uveitis after bilateral cataract surgery.Methods: A case report.Results: A 2-year-old boy was diagnosed with unilateral ...
Yu Tian, Yu Tian, Xiaochuan Wu, Yongzhen Li, Wenbin He, Zibin Liu, Frank L. Myers, Liang Zhou   +7 more
doaj   +1 more source

Design of Nanocarriers for Kidney Targeted Delivery of Nucleic Acid Therapeutics

Macromolecular Bioscience, Volume 26, Issue 7, July 2026.
Nucleic acid therapeutics have been investigated to expand their applications to renal genetic disorders. This review summarizes key considerations in the design and fabrication of nanocarriers for the systemic delivery of nucleic acid therapeutics to the kidneys.
Jun Hyuk Lee, Junku Han, Sehwan Park, Hyejung Mok   +3 more
wiley   +1 more source

Effect of Instructional Guidelines on Mothers' Knowledge and Stress Regarding their Children’s Alport Syndrome [PDF]

Egyptian Journal of Health Care
Background: Alport syndrome is defined as a genetic kidney illness that often leads to renal failure and gradually impairs kidney function. Some types of Alport syndrome can cause several negative outcomes, including mothers becoming more worried about ...
Mona Ibrahim Mohammed Abouzeid, Doaa Bahig Anwr Akl, Maha Mahmoud Saadoon, Hala Samir Ahmed El-Husseiny, Jehan Mahmoud Farrag Abdalla   +4 more
doaj   +1 more source

Knowledge Mapping of Alport Syndrome: A Bibliometric Analysis From 2000 to 2025

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This bibliometric analysis outlines global research trends, collaborations, and hotspots of Alport syndrome, offering references for future basic research and clinical management. ABSTRACT Background Alport syndrome (AS) is a multisystem hereditary disorder characterized by persistent hematuria, progressive renal insufficiency, sensorineural hearing ...
Xiujuan Cao, Wei Zhou, Yong Wang, Lvxian Wu, Jianhua Mao   +4 more
wiley   +1 more source