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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1967 3
1969 2
1970 2
1971 2
1972 2
1973 5
1974 1
1975 1
1976 5
1977 2
1979 4
1980 1
1981 2
1982 4
1983 1
1984 4
1985 3
1987 5
1988 7
1989 10
1990 10
1991 5
1992 9
1993 21
1994 5
1995 14
1996 17
1997 14
1998 11
1999 11
2000 11
2001 7
2002 6
2003 14
2004 12
2005 14
2006 9
2007 10
2008 10
2009 10
2010 6
2011 14
2012 14
2013 14
2014 9
2015 5
2016 7
2017 13
2018 18
2019 12
2020 13
2021 12
2022 17
2023 19
2024 7

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432 results

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Page 1
Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE. Kashtan CE. Am J Kidney Dis. 2021 Feb;77(2):272-279. doi: 10.1053/j.ajkd.2020.03.026. Epub 2020 Jul 22. Am J Kidney Dis. 2021. PMID: 32712016 Review.
Alport syndrome can be transmitted as an X-linked, autosomal recessive, or autosomal dominant disorder. Individuals with Alport syndrome have a significant lifetime risk for kidney failure, as well as sensorineural deafness and ocular abnormalities. ..
Alport syndrome can be transmitted as an X-linked, autosomal recessive, or autosomal dominant disorder. Individuals with Al
Alport Syndrome: A Comprehensive Review on Genetics, Pathophysiology, Histology, Clinical and Therapeutic Perspectives.
Pedrosa AL, Bitencourt L, Paranhos RM, Leitáo CA, Ferreira GC, Simões E Silva AC. Pedrosa AL, et al. Curr Med Chem. 2021;28(27):5602-5624. doi: 10.2174/0929867328666210108113500. Curr Med Chem. 2021. PMID: 33423643 Review.
BACKGROUND: Alport syndrome (AS) is a disease caused by mutations in COL4A3, COL4A4 or COL4A5, the genes that encode distinct chains of type IV collagen. ...
BACKGROUND: Alport syndrome (AS) is a disease caused by mutations in COL4A3, COL4A4 or COL4A5, the genes that encode distinct …
A review of clinical characteristics and genetic backgrounds in Alport syndrome.
Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, Kaito H, Kanemoto K, Kobayashi A, Tanaka E, Tanaka K, Hama T, Fujimaru R, Miwa S, Yamamura T, Yamamura N, Horinouchi T, Minamikawa S, Nagata M, Iijima K. Nozu K, et al. Clin Exp Nephrol. 2019 Feb;23(2):158-168. doi: 10.1007/s10157-018-1629-4. Epub 2018 Aug 20. Clin Exp Nephrol. 2019. PMID: 30128941 Free PMC article. Review.
Alport syndrome (AS) is a progressive hereditary renal disease that is characterized by sensorineural hearing loss and ocular abnormalities. It is divided into three modes of inheritance, namely, X-linked Alport syndrome (XLAS), autosomal recess
Alport syndrome (AS) is a progressive hereditary renal disease that is characterized by sensorineural hearing loss and
Digenic Alport Syndrome.
Savige J, Renieri A, Ars E, Daga S, Pinto AM, Rothe H, Gale DP, Aksenova M, Cerkauskaite A, Bielska O, Lipska-Zietkiewicz B, Gibson JT. Savige J, et al. Clin J Am Soc Nephrol. 2022 Nov;17(11):1697-1706. doi: 10.2215/CJN.03120322. Epub 2022 Jun 8. Clin J Am Soc Nephrol. 2022. PMID: 35675912 Free PMC article. Review.
Digenic Alport syndrome refers to the inheritance of pathogenic variants in COL4A5 plus COL4A3 or COL4A4 or in COL4A3 plus COL4A4 Where digenic Alport syndrome includes a pathogenic COL4A5 variant, the consequences depend on the sex of the affected ind …
Digenic Alport syndrome refers to the inheritance of pathogenic variants in COL4A5 plus COL4A3 or COL4A4 or in COL4A3 plus COL …
Complexities of the glomerular basement membrane.
Naylor RW, Morais MRPT, Lennon R. Naylor RW, et al. Nat Rev Nephrol. 2021 Feb;17(2):112-127. doi: 10.1038/s41581-020-0329-y. Epub 2020 Aug 24. Nat Rev Nephrol. 2021. PMID: 32839582 Review.
We now know that the GBM is a complex macromolecular structure that undergoes key transitions during glomerular development. Defects in GBM components are associated with a range of hereditary human diseases such as Alport syndrome, which is caused by defects …
We now know that the GBM is a complex macromolecular structure that undergoes key transitions during glomerular development. Defects in GBM …
Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3-COL4A5) and Their Association With Other Kidney Conditions: A Review.
Savige J, Harraka P. Savige J, et al. Am J Kidney Dis. 2021 Dec;78(6):857-864. doi: 10.1053/j.ajkd.2021.04.017. Epub 2021 Jul 8. Am J Kidney Dis. 2021. PMID: 34245817 Review.
Massively parallel sequencing identifies pathogenic variants in the genes affected in Alport syndrome (COL4A3-COL4A5) in as many as 30% of individuals with focal and segmental glomerulosclerosis (FSGS), 10% of those with kidney failure of unknown cause, and 20% with …
Massively parallel sequencing identifies pathogenic variants in the genes affected in Alport syndrome (COL4A3-COL4A5) in as ma …
Anti-glomerular basement membrane vasculitis.
Ponticelli C, Calatroni M, Moroni G. Ponticelli C, et al. Autoimmun Rev. 2023 Jan;22(1):103212. doi: 10.1016/j.autrev.2022.103212. Epub 2022 Oct 14. Autoimmun Rev. 2023. PMID: 36252931 Review.
In this review, we discuss the primary form of anti-GBM (the so called Goodpasture syndrome) but also cases associated with other autoimmune diseases such as antineutrophil-cytoplasmic-antibody (ANCA) vasculitis, membranous nephropathy, IgA nephritis and systemic lu …
In this review, we discuss the primary form of anti-GBM (the so called Goodpasture syndrome) but also cases associated with other aut …
Autoimmune polyendocrine syndrome type 1: Clinical manifestations, pathogenetic features, and management approach.
Bjørklund G, Pivin M, Hangan T, Yurkovskaya O, Pivina L. Bjørklund G, et al. Autoimmun Rev. 2022 Aug;21(8):103135. doi: 10.1016/j.autrev.2022.103135. Epub 2022 Jun 9. Autoimmun Rev. 2022. PMID: 35690244 Review.
Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive hereditary pathology that develops with endocrine and non-endocrine manifestations in childhood. ...This paper analyzes scientific information characterizing clinical manifestations of autoim …
Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive hereditary pathology that develops with endocrine a …
Anti-Glomerular Basement Membrane Disease.
McAdoo SP, Pusey CD. McAdoo SP, et al. Clin J Am Soc Nephrol. 2017 Jul 7;12(7):1162-1172. doi: 10.2215/CJN.01380217. Epub 2017 May 17. Clin J Am Soc Nephrol. 2017. PMID: 28515156 Free PMC article. Review.
Relapse and recurrent disease after kidney transplantation are both uncommon, although de novo anti-GBM disease after transplantation for Alport syndrome is a recognized phenomenon. Copresentation with other kidney diseases such as ANCA-associated vasculitis and mem …
Relapse and recurrent disease after kidney transplantation are both uncommon, although de novo anti-GBM disease after transplantation for …
Collagens and collagen-related diseases.
Myllyharju J, Kivirikko KI. Myllyharju J, et al. Ann Med. 2001 Feb;33(1):7-21. doi: 10.3109/07853890109002055. Ann Med. 2001. PMID: 11310942 Review.
These diseases include osteogenesis imperfecta, many chondrodysplasias, several subtypes of the Ehlers-Danlos syndrome, Alport syndrome, Bethlem myopathy, certain subtypes of epidermolysis bullosa, Knobloch syndrome and also some cases of osteoporosis, …
These diseases include osteogenesis imperfecta, many chondrodysplasias, several subtypes of the Ehlers-Danlos syndrome, Alport
432 results