Results 131 to 140 of about 3,403 (162)

Tips of family history taking in diagnosing Alport syndrome: a report of six cases. [PDF]

CEN Case Rep
Mori T.
europepmc   +1 more source

Coexistence of Alport Syndrome and Fabry Disease in a Female with R112H Variant: Early Progression of Fabry Nephropathy. [PDF]

Int J Mol Sci
Grimaldi A, Auletta A, Ciurli F, Aiello V, Vischini G, Fabbrizio B, Becherucci F, Pasquinelli G, La Manna G, Capelli I, Mignani R.   +10 more
europepmc   +1 more source

A case of concurrent Alport syndrome and Nail-patella syndrome posing diagnostic challenge without genetic testing. [PDF]

BMC Nephrol
Fung WW, Yau ML, Lam PPH, Szeto CC, Chong SC, Chow KM.   +5 more
europepmc   +1 more source

Autosomal Dominant Alport Syndrome Diagnosed in an Elderly Man. [PDF]

Cureus
Khorsan R, Arman F, Sarkar M.
europepmc   +1 more source

Clinical Insights Into the COL4A3 p.Gly407Arg Variant in Alport Syndrome. [PDF]

Kidney360
Gomes AM, Reis CF, Dias J, Martins PM, Medeiros N, Ferreira G, Faria V, Malheiro J, Lemos C, Lopes D, Beirão I.   +10 more
europepmc   +1 more source

Prevalence and Genetic Spectrum of Inherited Kidney Diseases: A Chinese Cohort Study. [PDF]

Kidney360
Liu Z, Zhuang J, Yang Y, Aierken A, Wang F, Li Z, Yin Q, Tu Y, Jiang H, Wang B.   +9 more
europepmc   +1 more source

Case Report: a novel non-canonical splice site variant in COL4A5 in a patient with Alport syndrome. [PDF]

Front Med (Lausanne)
Wang X, Dong L, Qiu H, Wang B, Wang S, Zhou W.   +5 more
europepmc   +1 more source

Dual Renal and Cardiac Phenotypes Associated with Rare Variants Inherited from Both Parents. [PDF]

Intern Med
Aida R, Watanabe H, Shiiya T, Sakurazawa C, Otsuka T, Goto S, Yamamoto S.   +6 more
europepmc   +1 more source

Sodium-Glucose Cotransporter 2 Inhibitors in Alport Syndrome: Emerging Clinical Evidence and Mechanistic Insights. [PDF]

Kidney360
Miyata KN, Miner JH.
europepmc   +1 more source

Diagnostic value of OCT-based temporal macular retinal thinning in children with hereditary glomerular diseases. [PDF]

Int J Ophthalmol
Wang J, Feng Y, Lin P, Chen L.
europepmc   +1 more source