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
1980 1
1991 1
1994 1
2003 3
2004 2
2009 1
2013 1
2017 1
2018 3
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

15 results

Results by year

Filters applied: . Clear all
Page 1
Longitudinal hearing loss in Wolfram syndrome.
Karzon R, Narayanan A, Chen L, Lieu JEC, Hershey T. Karzon R, et al. Orphanet J Rare Dis. 2018 Jun 27;13(1):102. doi: 10.1186/s13023-018-0852-0. Orphanet J Rare Dis. 2018. PMID: 29945639 Free PMC article.
BACKGROUND: Wolfram syndrome (WFS) is a rare autosomal recessive disease with clinical manifestations of diabetes mellitus (DM), diabetes insipidus (DI), optic nerve atrophy (OA) and sensorineural hearing loss (SNHL). ...Mixed model analyses were used …
BACKGROUND: Wolfram syndrome (WFS) is a rare autosomal recessive disease with clinical manifestations of diabetes mellitus (DM …
Mutations in the Wolfram syndrome type 1 gene (WFS1) define a clinical entity of dominant low-frequency sensorineural hearing loss.
Lesperance MM, Hall JW 3rd, San Agustin TB, Leal SM. Lesperance MM, et al. Arch Otolaryngol Head Neck Surg. 2003 Apr;129(4):411-20. doi: 10.1001/archotol.129.4.411. Arch Otolaryngol Head Neck Surg. 2003. PMID: 12707187 Free PMC article.
Penetrance appears complete in that all individuals with a genetic mutation developed hearing loss. CONCLUSIONS: Dominant LFSNHL is most commonly caused by mutations in the Wolfram syndrome type 1 gene (WFS1). Mutations in WFS1 also cause a rare recess …
Penetrance appears complete in that all individuals with a genetic mutation developed hearing loss. CONCLUSIONS: Dominant LFSN …
DFNA54, a third locus for low-frequency hearing loss.
Gürtler N, Kim Y, Mhatre A, Schlegel C, Mathis A, Lalwani AK. Gürtler N, et al. J Mol Med (Berl). 2004 Nov;82(11):775-80. doi: 10.1007/s00109-004-0597-1. Epub 2004 Oct 13. J Mol Med (Berl). 2004. PMID: 15490091
In dominant NSSHI hearing loss is typically biased towards the high frequencies while low-frequency hearing loss is unusual. ...Sequencing of the corresponding gene POU4F3 yielded no pathogenic mutation segregating with the affected membe …
In dominant NSSHI hearing loss is typically biased towards the high frequencies while low-frequency hearing …
Whole exome sequencing identifies a pathogenic mutation in WFS1 in two large Chinese families with autosomal dominant all-frequency hearing loss and prenatal counseling.
Cheng H, Zhang Q, Wang W, Meng Q, Wang F, Liu M, Mao J, Shi Y, Wang W, Li H. Cheng H, et al. Int J Pediatr Otorhinolaryngol. 2018 Mar;106:113-119. doi: 10.1016/j.ijporl.2018.01.005. Epub 2018 Jan 31. Int J Pediatr Otorhinolaryngol. 2018. PMID: 29447883
OBJECTIVES: To identify the pathogenic mutation and provide prenatal counseling and diagnosis in two large Chinese families with autosomal dominant all-frequency hearing loss. METHODS: Whole exome sequencing technology was used to identify the pathogenic muta …
OBJECTIVES: To identify the pathogenic mutation and provide prenatal counseling and diagnosis in two large Chinese families with autosomal d …
A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene.
Lee J, Iwasaki T, Kaida T, Chuman H, Yoshimura A, Okamoto Y, Takashima H, Miyata K. Lee J, et al. Am J Ophthalmol Case Rep. 2022 Jan 22;25:101315. doi: 10.1016/j.ajoc.2022.101315. eCollection 2022 Mar. Am J Ophthalmol Case Rep. 2022. PMID: 35112031 Free PMC article.
We report a case of adult onset Wolfram syndrome with diabetes mellitus at age 22 and optic atrophy after age 40. ...Wolfram syndrome must be ruled out even in adult-onset diabetic patients with optic atrophy....
We report a case of adult onset Wolfram syndrome with diabetes mellitus at age 22 and optic atrophy after age 40. ...Wolfra …
A nonsynonymous mutation in the WFS1 gene in a Finnish family with age-related hearing impairment.
Kytövuori L, Hannula S, Mäki-Torkko E, Sorri M, Majamaa K. Kytövuori L, et al. Hear Res. 2017 Nov;355:97-101. doi: 10.1016/j.heares.2017.09.013. Epub 2017 Sep 28. Hear Res. 2017. PMID: 28974383
Wolfram syndrome (WS) is caused by recessive mutations in the Wolfram syndrome 1 (WFS1) gene. Sensorineural hearing impairment (HI) is a frequent feature in WS and, furthermore, certain mutations in WFS1 cause nonsyndromic dominantly inherited l …
Wolfram syndrome (WS) is caused by recessive mutations in the Wolfram syndrome 1 (WFS1) gene. Sensorineural h …
Wolfram syndrome: a clinicopathologic correlation.
Hilson JB, Merchant SN, Adams JC, Joseph JT. Hilson JB, et al. Acta Neuropathol. 2009 Sep;118(3):415-28. doi: 10.1007/s00401-009-0546-8. Epub 2009 May 16. Acta Neuropathol. 2009. PMID: 19449020 Free PMC article.
We report the post-mortem neuropathologic findings of a patient with Wolfram syndrome and correlate them with his clinical presentation. ...These findings correlated well with the patient's high-frequency hearing loss. The pathologic find …
We report the post-mortem neuropathologic findings of a patient with Wolfram syndrome and correlate them with his clinical pre …
WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.
Kobayashi M, Miyagawa M, Nishio SY, Moteki H, Fujikawa T, Ohyama K, Sakaguchi H, Miyanohara I, Sugaya A, Naito Y, Morita SY, Kanda Y, Takahashi M, Ishikawa K, Nagano Y, Tono T, Oshikawa C, Kihara C, Takahashi H, Noguchi Y, Usami SI. Kobayashi M, et al. PLoS One. 2018 Mar 12;13(3):e0193359. doi: 10.1371/journal.pone.0193359. eCollection 2018. PLoS One. 2018. PMID: 29529044 Free PMC article.
A heterozygous mutation in the Wolfram syndrome type 1 gene (WFS1) causes autosomal dominant nonsyndromic hereditary hearing loss, DFNA6/14/38, or Wolfram-like syndrome. ...In the present study, WFS1 variants were screened in a large seri …
A heterozygous mutation in the Wolfram syndrome type 1 gene (WFS1) causes autosomal dominant nonsyndromic hereditary hearin …
Wolfram syndrome. A report of four cases and review of the literature.
Bitoun P. Bitoun P. Ophthalmic Genet. 1994 Jun;15(2):77-85. doi: 10.3109/13816819409098867. Ophthalmic Genet. 1994. PMID: 7850272 Review.
This is a report of four new cases of Wolfram syndrome in three families and a review of the literature. The ophthalmologic, urologic, otologic, psychiatric and endocrine findings of the syndrome are discussed as well as their pathophysiology. Two recent repo …
This is a report of four new cases of Wolfram syndrome in three families and a review of the literature. The ophthalmologic, u …
Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature.
Simsek E, Simsek T, Tekgül S, Hosal S, Seyrantepe V, Aktan G. Simsek E, et al. Acta Paediatr. 2003;92(1):55-61. doi: 10.1111/j.1651-2227.2003.tb00469.x. Acta Paediatr. 2003. PMID: 12650300 Clinical Trial.
AIM: To study Wolfram syndrome (WFS) with multidisciplinary consultations and compare the results with the literature. ...Short stature was found in five cases, delayed puberty in two cases and hypergonadotropic hypogonadism in one case. Audiography disclosed hea …
AIM: To study Wolfram syndrome (WFS) with multidisciplinary consultations and compare the results with the literature. ...Shor …
15 results