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
2017 1
2018 2
2021 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

3 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Branchiootic syndrome 3"
Page 1
Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis.
Chen A, Song J, Acke FRE, Mei L, Cai X, Feng Y, He C. Chen A, et al. Clin Genet. 2021 Jul;100(1):3-13. doi: 10.1111/cge.13949. Epub 2021 Mar 21. Clin Genet. 2021. PMID: 33624842
Branchiootorenal spectrum disorder (BORSD) is a group of rare autosomal dominant entities characterized by branchiogenic malformations, hearing loss (HL) and renal anomalies. It comprises branchiootorenal syndrome and branchiootic syndrome, distinguished by the pres …
Branchiootorenal spectrum disorder (BORSD) is a group of rare autosomal dominant entities characterized by branchiogenic malformations, hear …
Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing.
Lin XF, Luo JW, Liu G, Zhu YB, Jin Z, Lin X. Lin XF, et al. Mol Med Rep. 2018 Nov;18(5):4271-4280. doi: 10.3892/mmr.2018.9455. Epub 2018 Sep 5. Mol Med Rep. 2018. PMID: 30221713 Free PMC article.
A total of three rare missense mutations were detected, including heterozygous c.244G>A in LMNA, c.546C>G in potassium voltage-gated channel subfamily KQT (KCNQ4) and c.1276G>A in EYA transcriptional coactivator and phosphatase 1 (EYA1), indicating a glutamic acid to lys …
A total of three rare missense mutations were detected, including heterozygous c.244G>A in LMNA, c.546C>G in potassium voltage-gated c …
Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio‑otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance?
Kause F, Reutter H, Marsch F, Thiele H, Altmüller J, Ludwig M, Zhang R. Kause F, et al. Mol Med Rep. 2018 Feb;17(2):3200-3205. doi: 10.3892/mmr.2017.8196. Epub 2017 Dec 6. Mol Med Rep. 2018. PMID: 29257230
WES demonstrated a known disease-causing heterozygous EYA1 splice variant in the patient, as well as his sister and mother; all of whom were affected with BO syndrome. A further GLI family zinc finger 3 (GLI3) splice variant of unknown significance, inherited from the unaf …
WES demonstrated a known disease-causing heterozygous EYA1 splice variant in the patient, as well as his sister and mother; all of whom were …