Yuan ZZ - Search Results

1

Case Report: Mutant SCN9A Susceptible to Charcot Neuroarthropathy in a Patient With Congenital Insensitivity to Pain.

Xie XH, Tang JG, Liu ZH, Peng SJ, Yuan ZZ, Gu H, Hu YQ, Tan ZP. Xie XH, et al. Among authors: yuan zz. Front Neurosci. 2021 Jul 14;15:697167. doi: 10.3389/fnins.2021.697167. eCollection 2021. Front Neurosci. 2021. PMID: 34335171 Free PMC article.

2

Mutant CARD10 in a family with progressive immunodeficiency and autoimmunity.

Yang DH, Guo T, Yuan ZZ, Lei C, Ding SZ, Yang YF, Tan ZP, Luo H. Yang DH, et al. Among authors: yuan zz. Cell Mol Immunol. 2020 Jul;17(7):782-784. doi: 10.1038/s41423-020-0423-x. Epub 2020 Apr 1. Cell Mol Immunol. 2020. PMID: 32238915 Free PMC article. No abstract available.

3

A Novel Nonsense MMP21 Variant Causes Dextrocardia and Congenital Heart Disease in a Han Chinese Patient.

Yuan ZZ, Fan LL, Jiang ZC, Yang YF, Tan ZP. Yuan ZZ, et al. Front Cardiovasc Med. 2020 Nov 9;7:582350. doi: 10.3389/fcvm.2020.582350. eCollection 2020. Front Cardiovasc Med. 2020. PMID: 33240936 Free PMC article.

4

Case Report: BAF-Opathies/SSRIDDs Due to a de novo ACTL6A Variant, Previously Considered to Be Heart-Hand Syndrome.

Yuan ZZ, Xie XH, Gu H, Zhang WZ, Hu YQ, Yang YF, Tan ZP. Yuan ZZ, et al. Front Cardiovasc Med. 2021 Aug 13;8:708033. doi: 10.3389/fcvm.2021.708033. eCollection 2021. Front Cardiovasc Med. 2021. PMID: 34485408 Free PMC article.

5

A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient.

Gu H, Yuan ZZ, Xie XH, Yang YF, Tan ZP. Gu H, et al. Among authors: yuan zz. J Hum Genet. 2022 Oct;67(10):573-577. doi: 10.1038/s10038-022-01053-w. Epub 2022 Jun 13. J Hum Genet. 2022. PMID: 35691949

6

Haploinsufficiency of syncoilin leads to hypertrophic cardiomyopathy.

Fan LL, Yuan ZZ, Jiao ZJ, Zeng H, Yang YF, Tan ZP. Fan LL, et al. Among authors: yuan zz. Genes Dis. 2022 Mar 23;9(6):1412-1414. doi: 10.1016/j.gendis.2022.02.011. eCollection 2022 Nov. Genes Dis. 2022. PMID: 36157493 Free PMC article. No abstract available.

7

Identification of a novel MYO1D variant associated with laterality defects, congenital heart diseases, and sperm defects in humans.

Yuan Z, Zhu X, Xie X, Wang C, Gu H, Yang J, Fan L, Xiang R, Yang Y, Tan Z. Yuan Z, et al. Front Med. 2024 Jun;18(3):558-564. doi: 10.1007/s11684-023-1042-6. Epub 2024 Apr 30. Front Med. 2024. PMID: 38684630

8

Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report.

Yang JL, Gu H, Yuan ZZ, Xie XH, Yang YF, Tan ZP. Yang JL, et al. Among authors: yuan zz. BMC Med Genomics. 2024 May 21;17(1):136. doi: 10.1186/s12920-024-01907-6. BMC Med Genomics. 2024. PMID: 38773541 Free PMC article.

9

Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family.

Jin JY, Wu PF, He JQ, Fan LL, Yuan ZZ, Pang XY, Tang JY, Zhang LY. Jin JY, et al. Among authors: yuan zz. Front Genet. 2020 May 25;11:492. doi: 10.3389/fgene.2020.00492. eCollection 2020. Front Genet. 2020. PMID: 32528525 Free PMC article.

10

A novel POF1B variant in a Chinese patient is associated with premature ovarian failure.

Yuan ZZ, Wang CY, Jin JY, Sheng Y, Zhao MF, Fan LL, Zhang AQ. Yuan ZZ, et al. Clin Genet. 2021 Dec;100(6):773-774. doi: 10.1111/cge.14048. Epub 2021 Aug 23. Clin Genet. 2021. PMID: 34423420

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