Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1975 1
1987 1
1988 1
1990 1
1991 2
1992 1
1993 1
1994 2
1995 2
1996 2
1997 4
1998 3
1999 4
2000 8
2001 4
2002 5
2004 2
2005 2
2006 2
2007 4
2008 4
2009 2
2010 3
2011 2
2012 6
2013 5
2014 1
2015 3
2016 2
2017 5
2018 4
2019 1
2020 4
2021 2
2022 3
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

88 results

Results by year

Filters applied: . Clear all
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 is a genetically and phenotypically heterogeneous disorder of glomerular, cochlear, and ocular basement membranes resulting from mutations in the collagen IV genes COL4A3, COL4A4, and COL4A5. Alport syndrome can be transmitted as an X-linked, …
Alport syndrome is a genetically and phenotypically heterogeneous disorder of glomerular, cochlear, and ocular basement membranes resulting …
Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I, Morín M, Domínguez-Ruiz M, Moreno-Pelayo MA. Del Castillo I, et al. Hum Genet. 2022 Apr;141(3-4):683-696. doi: 10.1007/s00439-021-02425-6. Epub 2022 Jan 19. Hum Genet. 2022. PMID: 35044523 Review.
Over the years, epidemiological data were scarce because of the large number of involved genes, whose screening was not cost-effective until implementation of massively parallel DNA sequencing. ...X-linked hearing loss and maternally-inherited NSHI have minor …
Over the years, epidemiological data were scarce because of the large number of involved genes, whose screening was not cost-effectiv …
X-linked deafness/incomplete partition type 3: Radiological evaluation of temporal bone and intracranial findings.
Parlak S, Gumeler E, Sennaroglu L, Ozgen B. Parlak S, et al. Diagn Interv Radiol. 2022 Jan;28(1):50-57. doi: 10.5152/dir.2021.20791. Diagn Interv Radiol. 2022. PMID: 34914607 Free article. Review.
PURPOSE: X-linked deafness (XLD) is a rare disease, characterized by typical cochlear incomplete partition type 3 anomaly (IP-III). ...
PURPOSE: X-linked deafness (XLD) is a rare disease, characterized by typical cochlear incomplete partition type 3 anoma …
Sex-linked deafness.
Petersen MB, Wang Q, Willems PJ. Petersen MB, et al. Clin Genet. 2008 Jan;73(1):14-23. doi: 10.1111/j.1399-0004.2007.00913.x. Epub 2007 Nov 13. Clin Genet. 2008. PMID: 18005182 Review.
Many human syndromes associated with hearing loss are caused by disease genes located on the X chromosome, but few X-linked loci for non-syndromic hearing loss have been reported. Surprisingly, a Y-linked locus has been identified, representing one of the onl …
Many human syndromes associated with hearing loss are caused by disease genes located on the X chromosome, but few X-linked …
Spermine synthase.
Pegg AE, Michael AJ. Pegg AE, et al. Cell Mol Life Sci. 2010 Jan;67(1):113-21. doi: 10.1007/s00018-009-0165-5. Epub 2009 Oct 27. Cell Mol Life Sci. 2010. PMID: 19859664 Free PMC article. Review.
Gyro mice, which have an X-chromosomal deletion including the spermine synthase (SMS) gene, lack all spermine and have a greatly reduced size, sterility, deafness, neurological abnormalities, and a tendency to sudden death. Mutations in the human SMS lead to a rise in sper …
Gyro mice, which have an X-chromosomal deletion including the spermine synthase (SMS) gene, lack all spermine and have a greatly reduced siz …
[Ciliopathies].
Gerth-Kahlert C, Koller S. Gerth-Kahlert C, et al. Klin Monbl Augenheilkd. 2018 Mar;235(3):264-272. doi: 10.1055/a-0573-9199. Epub 2018 Mar 13. Klin Monbl Augenheilkd. 2018. PMID: 29534263 Review. German.
The most common syndromic ciliopathies with an ocular manifestation are Bardet-Biedl syndrome (BBS) and Usher syndrome. Molecular-genetic analysis revealed a large number of cilia genes with a high phenotype heterogeneity. Diagnosis of ciliopathies require a multi-discipli …
The most common syndromic ciliopathies with an ocular manifestation are Bardet-Biedl syndrome (BBS) and Usher syndrome. Molecular-genetic an …
Connexin Mutations and Hereditary Diseases.
Qiu Y, Zheng J, Chen S, Sun Y. Qiu Y, et al. Int J Mol Sci. 2022 Apr 12;23(8):4255. doi: 10.3390/ijms23084255. Int J Mol Sci. 2022. PMID: 35457072 Free PMC article. Review.
Inherited diseases caused by connexin mutations are found in multiple organs and include hereditary deafness, congenital cataract, congenital heart diseases, hereditary skin diseases, and X-linked Charcot-Marie-Tooth disease (CMT1X). ...Here, we analyze the s …
Inherited diseases caused by connexin mutations are found in multiple organs and include hereditary deafness, congenital cataract, co …
Extracellular Matrix: Alport Syndrome.
Tsang SH, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:197-198. doi: 10.1007/978-3-319-95046-4_41. Adv Exp Med Biol. 2018. PMID: 30578514 Review.
Patients present with X-linked inheritance; Alport syndrome occurs in approximately 1 in 50,000 newborns. The systemic features include progressive interstitial nephritis, renal failure by the fifth decade, and neurosensory deafness....
Patients present with X-linked inheritance; Alport syndrome occurs in approximately 1 in 50,000 newborns. The systemic feature …
Genetics Of Human Hereditary Hearing Impairment.
Meena R, Ayub M. Meena R, et al. J Ayub Med Coll Abbottabad. 2017 Oct-Dec;29(4):671-676. J Ayub Med Coll Abbottabad. 2017. PMID: 29331002 Free article. Review.
Non-syndromic hearing loss is further categorized as autosomal recessive, autosomal dominant, X-linked and mitochondrial deafness. Autosomal recessive occurs more frequently as compared to autosomal dominant. Mutations in various genes are responsible …
Non-syndromic hearing loss is further categorized as autosomal recessive, autosomal dominant, X-linked and mitochondrial de …
Women and Alport syndrome.
Rheault MN. Rheault MN. Pediatr Nephrol. 2012 Jan;27(1):41-6. doi: 10.1007/s00467-011-1836-7. Epub 2011 Mar 5. Pediatr Nephrol. 2012. PMID: 21380623 Free PMC article. Review.
X-linked Alport syndrome (XLAS) is caused by mutations in type IV collagen causing sensorineural hearing loss, eye abnormalities, and progressive kidney dysfunction that results in near universal end-stage renal disease (ESRD) and the need for kidney transplantation …
X-linked Alport syndrome (XLAS) is caused by mutations in type IV collagen causing sensorineural hearing loss, eye abnormaliti …
88 results