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
1995 2
2001 1
2006 1
2007 3
2008 3
2010 1
2012 1
2015 2
2017 1
2021 2
2022 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

18 results

Results by year

Filters applied: . Clear all
Page 1
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.
Hearing impairment not etiologically associated with clinical signs in other organs (non-syndromic) is genetically heterogeneous, so that over 120 genes are currently known to be involved. ...X-linked hearing loss and maternally-inherited …
Hearing impairment not etiologically associated with clinical signs in other organs (non-syndromic) is genetically heterogeneous, so …
Nonsyndromic X-linked hearing loss.
Song MH, Lee KY, Choi JY, Bok J, Kim UK. Song MH, et al. Front Biosci (Elite Ed). 2012 Jan 1;4(3):924-33. doi: 10.2741/E430. Front Biosci (Elite Ed). 2012. PMID: 22201925 Free article. Review.
To date, 135 loci and 50 genes have been identified as causes of nonsyndromic hearing loss. ...The different types of nonsyndromic X-linked hearing loss demonstrate various clinical features in terms of the onset and progressivenes …
To date, 135 loci and 50 genes have been identified as causes of nonsyndromic hearing loss. ...The different types of n …
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.
Two distinct types of hereditary hearing loss are syndromic or non-syndromic. Non-syndromic hearing loss is further categorized as autosomal recessive, autosomal dominant, X-linked and mitochondrial deafness. Autosomal recessive occurs mo …
Two distinct types of hereditary hearing loss are syndromic or non-syndromic. Non-syndromic hearing loss is furt …
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). ...In XLD patients, the cochlea had decreased transverse dimension and increased height compared to the control group (p< 0.001). F …
PURPOSE: X-linked deafness (XLD) is a rare disease, characterized by typical cochlear incomplete partition type 3 anomaly (IP- …
Association of PRPS1 Mutations with Disease Phenotypes.
Mittal R, Patel K, Mittal J, Chan B, Yan D, Grati M, Liu XZ. Mittal R, et al. Dis Markers. 2015;2015:127013. doi: 10.1155/2015/127013. Epub 2015 May 24. Dis Markers. 2015. PMID: 26089585 Free PMC article. Review.
Patients with PRS-I superactivity demonstrate uric acid overproduction, hypotonia, ataxia, neurodevelopment abnormalities, and postlingual hearing impairment. On the other hand, decreased activity leads to X-linked nonsyndromic sensorineural deafness (DFNX-2) …
Patients with PRS-I superactivity demonstrate uric acid overproduction, hypotonia, ataxia, neurodevelopment abnormalities, and postlingual …
Congenital isolated central hypothyroidism: Novel mutations and their functional implications.
Boelen A, van Trotsenburg ASP, Fliers E. Boelen A, et al. Handb Clin Neurol. 2021;180:161-169. doi: 10.1016/B978-0-12-820107-7.00010-0. Handb Clin Neurol. 2021. PMID: 34225927 Review.
Over the past decade, the identification of families with isolated congenital central hypothyroidism enabled the identification of novel genetic causes of this condition, in addition to mutations in the TSHbeta-subunit gene and thyrotropin-releasing hormone receptor gene reported …
Over the past decade, the identification of families with isolated congenital central hypothyroidism enabled the identification of novel gen …
Ocular features in Alport syndrome: pathogenesis and clinical significance.
Savige J, Sheth S, Leys A, Nicholson A, Mack HG, Colville D. Savige J, et al. Clin J Am Soc Nephrol. 2015 Apr 7;10(4):703-9. doi: 10.2215/CJN.10581014. Epub 2015 Feb 3. Clin J Am Soc Nephrol. 2015. PMID: 25649157 Free PMC article. Review.
Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in absence of the collagen IV …
Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Mu …
Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review.
Gong WY, Liu FN, Yin LH, Zhang J. Gong WY, et al. Biomed Res Int. 2021 Mar 2;2021:6664973. doi: 10.1155/2021/6664973. eCollection 2021. Biomed Res Int. 2021. PMID: 33748275 Free PMC article. Review.
Alport syndrome (AS) is an inherited kidney disease caused by defects in type IV collagen, which is characterized by hematuria, progressive nephritis or end-stage renal disease (ESRD), hearing loss, and occasionally ocular lesions. Approximately 80% of AS cases are …
Alport syndrome (AS) is an inherited kidney disease caused by defects in type IV collagen, which is characterized by hematuria, progressive …
PRPS1 mutations: four distinct syndromes and potential treatment.
de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J. de Brouwer AP, et al. Am J Hum Genet. 2010 Apr 9;86(4):506-18. doi: 10.1016/j.ajhg.2010.02.024. Am J Hum Genet. 2010. PMID: 20380929 Free PMC article. Review.
With this in mind, it is remarkable that mutations in phosphoribosylpyrophosphate synthetase 1 (PRPS1), which is the most ubiquitously expressed gene of the three PRS genes, are compatible with life. Mutations described thus far in PRPS1 are all missense mutations that res …
With this in mind, it is remarkable that mutations in phosphoribosylpyrophosphate synthetase 1 (PRPS1), which is the most ubiquitously expre …
Norrie disease and MAO genes: nearest neighbors.
Chen ZY, Denney RM, Breakefield XO. Chen ZY, et al. Hum Mol Genet. 1995;4 Spec No:1729-37. doi: 10.1093/hmg/4.suppl_1.1729. Hum Mol Genet. 1995. PMID: 8541872 Review.
Distinctive X-linked syndromes have been described for mutations in the MAOA and NDP genes, and in addition, individuals have been identified with contiguous gene syndromes due to chromosomal deletions which encompass two or three of these genes. Lo …
Distinctive X-linked syndromes have been described for mutations in the MAOA and NDP genes, and in addition, individual …
18 results