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
1993 1
2010 1
2022 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

4 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.
In Europe, the most common form of autosomal recessive NSHI is DFNB1, which accounts for 11-57% of the cases. ...Four additional genes contribute 2.5% each one (MITF, KCNQ4, EYA4, SOX10) and the remaining are residually represented. X-linked hearing …
In Europe, the most common form of autosomal recessive NSHI is DFNB1, which accounts for 11-57% of the cases. ...Four a …
Mortality in patients with alpha-mannosidosis: a review of patients' data and the literature.
Hennermann JB, Raebel EM, Donà F, Jacquemont ML, Cefalo G, Ballabeni A, Malm D. Hennermann JB, et al. Orphanet J Rare Dis. 2022 Jul 23;17(1):287. doi: 10.1186/s13023-022-02422-6. Orphanet J Rare Dis. 2022. PMID: 35871018 Free PMC article. Review.
BACKGROUND: Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder (LSD) caused by reduced activity of alpha-mannosidase. Clinical manifestations include skeletal dysmorphism, mental impairment, hearing loss and recurrent infection …
BACKGROUND: Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder (LSD) caused by reduced activity of al …
Hereditary hearing loss and deafness genes in Japan.
Ito T, Noguchi Y, Yashima T, Ohno K, Kitamura K. Ito T, et al. J Med Dent Sci. 2010 Mar;57(1):1-10. J Med Dent Sci. 2010. PMID: 20437760 Review.
Hearing loss (HL) is the most common sensory impairment occurring at birth in developed countries. ...Approximately 70% of hereditary HL is nonsyndromic and subdivided to autosomal dominant (20%), autosomal recessive (75%), X-linked HL (1%), and …
Hearing loss (HL) is the most common sensory impairment occurring at birth in developed countries. ...Approximately 70% of her …
Congenital heart disease associated with sporadic Kallmann syndrome.
Cortez AB, Galindo A, Arensman FW, Van Dop C. Cortez AB, et al. Am J Med Genet. 1993 Jun 15;46(5):551-4. doi: 10.1002/ajmg.1320460518. Am J Med Genet. 1993. PMID: 8322819 Review.
A 17-year-old boy with Kallmann syndrome had complex congenital heart disease that included double-outlet right ventricle, d-mal-position of the great arteries, right aortic arch, and hypoplastic main pulmonary artery. He had neurosensory hearing loss and mental ret …
A 17-year-old boy with Kallmann syndrome had complex congenital heart disease that included double-outlet right ventricle, d-mal-position of …