The 2019 and 2021 international workshops on Alport syndrome
In 1927 Arthur Cecil Alport, a South African physician, described a British family with an
inherited form of kidney disease that affected males more severely than females and was …
inherited form of kidney disease that affected males more severely than females and was …
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome
O Gross, CE Kashtan, MN Rheault… - Nephrology Dialysis …, 2017 - academic.oup.com
Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy
variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the …
variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the …
A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population
Alport syndrome is an inherited progressive nephropathy arising from mutations in the type
IV collagen genes, COL4A3, COL4A4, and COL4A5. Symptoms also include sensorineural …
IV collagen genes, COL4A3, COL4A4, and COL4A5. Symptoms also include sensorineural …
Molecular basis, diagnostic challenges and therapeutic approaches of alport syndrome: a primer for clinicians
R Martínez-Pulleiro, M García-Murias… - International journal of …, 2021 - mdpi.com
Alport syndrome is a genetic and hereditary disease, caused by mutations in the type IV
collagen genes COL4A3, COL4A4 and COL4A5, that affects the glomerular basement …
collagen genes COL4A3, COL4A4 and COL4A5, that affects the glomerular basement …
[HTML][HTML] A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia
C Arrondel, G Deschênes, Y Le Meur, A Viau… - Kidney International, 2004 - Elsevier
A large tandem duplication within the COL4A5 gene is responsible for the high prevalence
of Alport syndrome in French Polynesia. Background The prevalence of X-linked Alport …
of Alport syndrome in French Polynesia. Background The prevalence of X-linked Alport …
[HTML][HTML] Alport syndrome: clinical spectrum and therapeutic advances
V De Gregorio, EB Caparali, A Shojaei, S Ricardo… - Kidney Medicine, 2023 - Elsevier
Alport syndrome is a hereditary disorder characterized by kidney disease, ocular
abnormalities, and sensorineural hearing loss. Work in understanding the cause of Alport …
abnormalities, and sensorineural hearing loss. Work in understanding the cause of Alport …
[HTML][HTML] The 2014 international workshop on Alport syndrome
Alport syndrome, historically referred to as hereditary glomerulonephritis with sensorineural
deafness and anterior lenticonus, is a genetic disease of collagen α3α4α5 (IV) resulting in …
deafness and anterior lenticonus, is a genetic disease of collagen α3α4α5 (IV) resulting in …
Meta‐analysis of genotype–phenotype correlation in X‐linked Alport syndrome: impact on clinical counselling
O Gross, KO Netzer, R Lambrecht… - Nephrology Dialysis …, 2002 - academic.oup.com
Background. Alport syndrome (AS) is a hereditary nephropathy characterized by progressive
renal failure, hearing loss and ocular lesions. Numerous mutations of the COL4A5 gene …
renal failure, hearing loss and ocular lesions. Numerous mutations of the COL4A5 gene …
Alport syndrome: achieving early diagnosis and treatment
CE Kashtan - American Journal of Kidney Diseases, 2021 - Elsevier
Alport syndrome is a genetically and phenotypically heterogeneous disorder of glomerular,
cochlear, and ocular basement membranes resulting from mutations in the collagen IV …
cochlear, and ocular basement membranes resulting from mutations in the collagen IV …
Alport syndrome: from bedside to genome to bedside
CE Kashtan, AF Michael - American journal of kidney diseases, 1993 - Elsevier
Alport syndrome is a genetic disorder of basement membranes manifested clinically by a
progressive nephropathy and, in many families, sensorineural hearing loss and ocular …
progressive nephropathy and, in many families, sensorineural hearing loss and ocular …
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