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 Custom Filters

Results by year

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

Year Number of Results
1994 1
2004 1
2005 1
2009 1
2010 1
2012 2
2013 3
2014 2
2015 1
2016 2
2018 1
2019 1
2020 2
2022 1
2023 4
2025 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

19 results

Results by year

Filters applied: . Clear all
Page 1
Bart-Pumphrey Syndrome.
Al-Hamdi KI, Qais Saadoon A, Abduljabbar NH. Al-Hamdi KI, et al. JAMA Dermatol. 2020 Oct 1;156(10):1126. doi: 10.1001/jamadermatol.2020.2555. JAMA Dermatol. 2020. PMID: 32745176 No abstract available.
A family of Bart-Pumphrey syndrome.
Gönül M, Gül Ü, Hizli P, Hizli Ö. Gönül M, et al. Indian J Dermatol Venereol Leprol. 2012 Mar-Apr;78(2):178-81. doi: 10.4103/0378-6323.93636. Indian J Dermatol Venereol Leprol. 2012. PMID: 22421650 Free article.
Bart-Pumphrey syndrome (BPS) is an autosomal-dominant disorder characterized by hearing loss, leukonychia, knuckle pads and palmoplantar keratoderma. ...
Bart-Pumphrey syndrome (BPS) is an autosomal-dominant disorder characterized by hearing loss, leukonychia, knuckle pads …
[Leukonychia totalis].
Wagner G, Meyer V, Sachse MM. Wagner G, et al. Hautarzt. 2016 Apr;67(4):308-10. doi: 10.1007/s00105-015-3736-4. Hautarzt. 2016. PMID: 26676417 German.
Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.
Richard G, Brown N, Ishida-Yamamoto A, Krol A. Richard G, et al. J Invest Dermatol. 2004 Nov;123(5):856-63. doi: 10.1111/j.0022-202X.2004.23470.x. J Invest Dermatol. 2004. PMID: 15482471 Free article.
Bart-Pumphrey syndrome (BPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, which show considerable phenotypic variability. ...
Bart-Pumphrey syndrome (BPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplanta …
Overview of skin diseases linked to connexin gene mutations.
Avshalumova L, Fabrikant J, Koriakos A. Avshalumova L, et al. Int J Dermatol. 2014 Feb;53(2):192-205. doi: 10.1111/ijd.12062. Epub 2013 May 15. Int J Dermatol. 2014. PMID: 23675785 Review.
Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, keratitis-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome …
Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, keratitis-ichthyosis deafness, and hystrix-like ichthyosis dea …
The role of connexins in ear and skin physiology - functional insights from disease-associated mutations.
Xu J, Nicholson BJ. Xu J, et al. Biochim Biophys Acta. 2013 Jan;1828(1):167-78. doi: 10.1016/j.bbamem.2012.06.024. Epub 2012 Jul 13. Biochim Biophys Acta. 2013. PMID: 22796187 Free PMC article. Review.
Other mutations in Cx26 or Cx30 have also been associated with various skin phenotypes linked to deafness (palmoplanta keratoderma, Bart-Pumphrey syndrome, Vohwinkel syndrome, keratitis-ichthyosis-deafness syndrome, etc.). ...
Other mutations in Cx26 or Cx30 have also been associated with various skin phenotypes linked to deafness (palmoplanta keratoderma, Bart …
A family with leukonychia totalis.
Balighi K, Moeineddin F, Lajevardi V, Ahmadreza R. Balighi K, et al. Indian J Dermatol. 2010;55(1):102-4. doi: 10.4103/0019-5154.60365. Indian J Dermatol. 2010. PMID: 20418990 Free PMC article.
Physical examination revealed clinical feature of leukonychia totalis and the presence of sensorineural hearing loss, palmo plantar keratoderma and knuckle pads (four essential criteria for the diagnosis of Bart Pumphrey syndrome).Three consecutive generation …
Physical examination revealed clinical feature of leukonychia totalis and the presence of sensorineural hearing loss, palmo plantar keratode …
19 results