Huang BQ - Search Results

1

A gross deletion of the PAX3 gene in a large Chinese family with Waardenburg syndrome type I.

Yang SZ, Hou L, Qi X, Wang GJ, Huang SS, Zhang SS, Huang BQ, Yang Y, Li BC, Liu S, Dai P, Su Y. Yang SZ, et al. Among authors: huang bq. World J Pediatr. 2023 Dec;19(12):1203-1207. doi: 10.1007/s12519-023-00746-2. Epub 2023 Sep 14. World J Pediatr. 2023. PMID: 37704892 Free PMC article. No abstract available.

2

The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals.

Huang S, Huang B, Wang G, Yuan Y, Dai P. Huang S, et al. PLoS One. 2015 Jun 10;10(6):e0129662. doi: 10.1371/journal.pone.0129662. eCollection 2015. PLoS One. 2015. PMID: 26061099 Free PMC article.

3

The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population.

Huang S, Huang B, Wang G, Kang DY, Zhang X, Meng X, Dai P. Huang S, et al. Int J Pediatr Otorhinolaryngol. 2017 Nov;102:67-70. doi: 10.1016/j.ijporl.2017.09.001. Epub 2017 Sep 7. Int J Pediatr Otorhinolaryngol. 2017. PMID: 29106878

4

Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families.

Su Y, Gao X, Huang SS, Mao JN, Huang BQ, Zhao JD, Kang DY, Zhang X, Dai P. Su Y, et al. Among authors: huang bq, huang ss. BMC Med Genet. 2018 Sep 4;19(1):157. doi: 10.1186/s12881-018-0630-9. BMC Med Genet. 2018. PMID: 30176854 Free PMC article.

5

Genetic mutations in non-syndromic deafness patients in Hainan Province have a different mutational spectrum compared to patients from Mainland China.

Huang B, Han M, Wang G, Huang S, Zeng J, Yuan Y, Dai P. Huang B, et al. Int J Pediatr Otorhinolaryngol. 2018 May;108:49-54. doi: 10.1016/j.ijporl.2018.02.015. Epub 2018 Feb 15. Int J Pediatr Otorhinolaryngol. 2018. PMID: 29605365

6

A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss.

Huang BQ, Zeng JL, Yuan YY, Dai P. Huang BQ, et al. J Otol. 2015 Jun;10(2):78-82. doi: 10.1016/j.joto.2015.09.004. Epub 2015 Sep 30. J Otol. 2015. PMID: 29937786 Free PMC article.

7

KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.

Zhao J, Yuan Y, Huang S, Huang B, Cheng J, Kang D, Wang G, Han D, Dai P. Zhao J, et al. PLoS One. 2014 Nov 5;9(11):e108134. doi: 10.1371/journal.pone.0108134. eCollection 2014. PLoS One. 2014. PMID: 25372295 Free PMC article.

8

Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation.

Yuan Y, Gao X, Huang B, Lu J, Wang G, Lin X, Qu Y, Dai P. Yuan Y, et al. BMC Genet. 2016 Feb 1;17:33. doi: 10.1186/s12863-016-0333-1. BMC Genet. 2016. PMID: 26832775 Free PMC article.

9

A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2.

Huang B, Liu Y, Gao X, Xu J, Dai P, Zhu Q, Yuan Y. Huang B, et al. BMC Med Genet. 2017 Mar 24;18(1):36. doi: 10.1186/s12881-017-0396-5. BMC Med Genet. 2017. PMID: 28340560 Free PMC article.

10

[The study of GJB2 dominant mutaion distribution in Chinese deafness patient and the analysis of phenotype].

Huang S, Huang B, Yuan Y, Wang G, Dai P. Huang S, et al. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2014 Nov;28(22):1744-7. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2014. PMID: 25752103 Chinese.

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