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Articles (11)

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1-10 of 11 results for X-linked Alport syndrome

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Select article: Heterozygous X-linked Alport syndrome in a pregnant woman: A case report

Open access

Case report

First published 2026

Heterozygous X-linked Alport syndrome in a pregnant woman: A case report

Caroline Gee, Matthew D. Nguyen, Dao Le [...]

Sage Open Medical Case Reports

Select article: Corneal endothelial neovascularization and glaucoma in X-linked Alport syndrome

Retricted access

Case report

First published 2025-5

Corneal endothelial neovascularization and glaucoma in X-linked Alport syndrome

Lin Zhou, Yao Zhang, Chaohua Tian [...]

European Journal of Ophthalmology

Select article: Genetic,Clinical,and Pathologic Backgrounds of Children With X-Linked Alport Syndrome in China: A Monocenter Study

Open access

Research article

First published 2024

Genetic,Clinical,and Pathologic Backgrounds of Children With X-Linked Alport Syndrome in China: A Monocenter Study

Ding Juan-Juan, Wang Jia, Liu Li-Li [...]

Sage Open Pediatrics

Select article: A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing

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Research article

First published 2016-04

A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing

Chen Chen, Chao-Xia Lu, Qiong Wang [...]

Genetic Testing and Molecular Biomarkers

Select article: Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine

Open access

Case report

First published 2012

Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine

Pilar Antón-Martín, Cristina Aparicio López, Soraya Ramiro-León [...]

Clinical Medicine Insights: Pediatrics

Select article: A triad of retinal signs in Alport syndrome: The ‘stair-case’ fovea,choroidal thinning and peripheral schisis

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Case report

First published 2019-7

A triad of retinal signs in Alport syndrome: The ‘stair-case’ fovea,choroidal thinning and peripheral schisis

Nima Ghadiri, N Stanojcic, MSA Raja [...]

European Journal of Ophthalmology

Select article: Correlation Between mRNA Expression Level of the Mutant COL4A5 Gene and Phenotypes of XLAS Females

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Other

First published 2007-5

Correlation Between mRNA Expression Level of the Mutant COL4A5 Gene and Phenotypes of XLAS Females

Yunfeng Wang, Hongwen Zhang, Jie Ding [...]

Experimental Biology and Medicine

Select article: Prenatal Diagnosis and Genetic Counseling of a Chinese Alport Syndrome Kindred

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Research article

First published 2008-03

Prenatal Diagnosis and Genetic Counseling of a Chinese Alport Syndrome Kindred

Hongwen Zhang, Jie Ding, Fang Wang [...]

Genetic Testing and Molecular Biomarkers

Select article: Diffuse Leiomyomatosis of the Esophagus: Disorder of Cell-Matrix Interaction?

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Research article

First published 1998-11

Diffuse Leiomyomatosis of the Esophagus: Disorder of Cell-Matrix Interaction?

Paul Thorner, Laurence Heidet, Fernando Moreno Merlo [...]

Pediatric and Developmental Pathology

Select article: Abnormal Expression of miR-21 in Kidney Tissue of Dogs With X-Linked Hereditary Nephropathy: A Canine Model of Chronic Kidney Disease

Free access

Research article

First published 2019-1

Abnormal Expression of miR-21 in Kidney Tissue of Dogs With X-Linked Hereditary Nephropathy: A Canine Model of Chronic Kidney Disease

Sabrina D. Clark, Wenping Song, Rachel Cianciolo [...]

Veterinary Pathology

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