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Quoted phrase not found in phrase index: "Branchiootic syndrome 3"
Page 1
Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis.
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 …
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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 …
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