Yang Z - Search Results

1

A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder.

Xia H, Hu P, Yuan L, Xiong W, Xu H, Yi J, Yang Z, Deng X, Guo Y, Deng H. Xia H, et al. Among authors: yang z. Mol Med Rep. 2017 Oct;16(4):4241-4246. doi: 10.3892/mmr.2017.7053. Epub 2017 Jul 21. Mol Med Rep. 2017. PMID: 28731162

2

Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures.

Zheng W, Zhang J, Deng X, Xiao J, Yuan L, Yang Y, Guan L, Song Z, Yang Z, Deng H. Zheng W, et al. Among authors: yang y, yang z. Mol Neurobiol. 2016 Mar;53(2):835-841. doi: 10.1007/s12035-014-9047-4. Epub 2014 Dec 15. Mol Neurobiol. 2016. PMID: 25502464

3

Identification of a novel GJA3 mutation in congenital nuclear cataract.

Yuan L, Guo Y, Yi J, Xiao J, Yuan J, Xiong W, Xu H, Yang Z, Zhang J, Deng H. Yuan L, et al. Among authors: yang z. Optom Vis Sci. 2015 Mar;92(3):337-42. doi: 10.1097/OPX.0000000000000518. Optom Vis Sci. 2015. PMID: 25635993

4

Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.

Huang X, Deng X, Xu H, Wu S, Yuan L, Yang Z, Yang Y, Deng H. Huang X, et al. Among authors: yang y, yang z. PLoS One. 2015 Jun 1;10(6):e0127529. doi: 10.1371/journal.pone.0127529. eCollection 2015. PLoS One. 2015. PMID: 26030151 Free PMC article.

5

Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.

Xia H, Huang X, Guo Y, Hu P, He G, Deng X, Xu H, Yang Z, Deng H. Xia H, et al. Among authors: yang z. PLoS One. 2015 Aug 26;10(8):e0136306. doi: 10.1371/journal.pone.0136306. eCollection 2015. PLoS One. 2015. PMID: 26308726 Free PMC article.

6

Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J.

Zheng W, Chen H, Deng X, Yuan L, Yang Y, Song Z, Yang Z, Wu Y, Deng H. Zheng W, et al. Among authors: yang y, yang z. Mol Neurobiol. 2016 Oct;53(8):5097-102. doi: 10.1007/s12035-015-9439-0. Epub 2015 Sep 21. Mol Neurobiol. 2016. PMID: 26392295

7

Compound heterozygous GJB2 mutations associated to a consanguineous Han family with autosomal recessive non-syndromic hearing loss.

Xia H, Xu H, Deng X, Yuan L, Xiong W, Yang Z, Deng H. Xia H, et al. Among authors: yang z. Acta Otolaryngol. 2016 Aug;136(8):782-5. doi: 10.3109/00016489.2016.1157727. Epub 2016 Apr 4. Acta Otolaryngol. 2016. PMID: 27045574

8

Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1.

Lu Q, Yuan L, Xu H, Huang X, Yang Z, Yi J, Ni B, Chen Y, Deng H. Lu Q, et al. Among authors: yang z. Mol Med Rep. 2017 Mar;15(3):1426-1430. doi: 10.3892/mmr.2017.6137. Epub 2017 Jan 23. Mol Med Rep. 2017. PMID: 28112372

9

Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing.

Deng H, Tan T, He Q, Lin Q, Yang Z, Zhu A, Guan L, Xiao J, Song Z, Guo Y. Deng H, et al. Among authors: yang z. Mol Med Rep. 2017 Jul;16(1):473-477. doi: 10.3892/mmr.2017.6576. Epub 2017 May 11. Mol Med Rep. 2017. PMID: 28498426

10

A Missense Variant p.Ala117Ser in the Transthyretin Gene of a Han Chinese Family with Familial Amyloid Polyneuropathy.

Chen Q, Yuan L, Deng X, Yang Z, Zhang S, Deng S, Lu H, Deng H. Chen Q, et al. Among authors: yang z. Mol Neurobiol. 2018 Jun;55(6):4911-4917. doi: 10.1007/s12035-017-0694-0. Epub 2017 Jul 31. Mol Neurobiol. 2018. PMID: 28762097

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