Chen YJ - Search Results

1

[Pulmonary surfactant associated gene variants in mixed ethnic population of Han and Zhuang].

Chen YJ, Chen SK, DePass K, Wegner DJ, Hamvas A, Nong GM, Wang YZ, Fan X, Luo JS. Chen YJ, et al. Among authors: chen sk. Zhonghua Er Ke Za Zhi. 2012 Nov;50(11):843-6. Zhonghua Er Ke Za Zhi. 2012. PMID: 23302616 Chinese.

2

The Haplotype TGGAG in the ABCA3 Gene Increases the Risk of Respiratory Distress Syndrome in Preterm Infants in Southern China.

Tian W, Chen X, Qin H, Wei Q, Zhang S, Tang S, Liao L, Zhang Y, Chen Y. Tian W, et al. Pediatr Neonatol. 2016 Jun;57(3):188-94. doi: 10.1016/j.pedneo.2015.09.002. Epub 2015 Oct 27. Pediatr Neonatol. 2016. PMID: 26522252 Free article.

3

Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort.

Chen YJ, Wambach JA, DePass K, Wegner DJ, Chen SK, Zhang QY, Heins H, Cole FS, Hamvas A. Chen YJ, et al. Among authors: chen sk. World J Pediatr. 2016 May;12(2):190-5. doi: 10.1007/s12519-015-0047-x. Epub 2015 Nov 7. World J Pediatr. 2016. PMID: 26547207

4

Gene variants of the phosphatidylcholine synthesis pathway do not contribute to RDS in the Chinese population.

Chen YJ, Meyer J, Wambach JA, DePass K, Wegner DJ, Fan X, Zhang QY, Hillary H, Cole FS, Hamvas A. Chen YJ, et al. World J Pediatr. 2018 Feb;14(1):52-56. doi: 10.1007/s12519-017-0109-3. Epub 2018 Feb 6. World J Pediatr. 2018. PMID: 29411327

5

Heterozygous Recurrent Mutations Inducing Dysfunction of ROR2 Gene in Patients With Short Stature.

Gui B, Yu C, Li X, Zhao S, Zhao H, Yan Z, Cheng X, Lin J, Zheng H, Shao J, Zhao Z, Zhao L, Niu Y, Zhao Z, Wang H, Xie B, Wei X, Gui C, Li C, Chen S, Wang Y, Song Y, Gong C, Zhang TJ, Fan X, Wu Z, Chen Y, Wu N. Gui B, et al. Front Cell Dev Biol. 2021 Apr 14;9:661747. doi: 10.3389/fcell.2021.661747. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33937263 Free PMC article.

6

Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five-generation family.

Wei X, Huang G, Gui B, Xie B, Chen S, Fan X, Chen Y. Wei X, et al. Mol Genet Genomic Med. 2022 Apr;10(4):e1901. doi: 10.1002/mgg3.1901. Epub 2022 Mar 2. Mol Genet Genomic Med. 2022. PMID: 35235708 Free PMC article.

7

Delineation of dual molecular diagnosis in patients with skeletal deformity.

Liu L, Sun L, Chen Y, Wang M, Yu C, Huang Y, Zhao S, Du H, Chen S, Fan X, Tian W, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group; Qiu G, Zhang TJ, Wu N. Liu L, et al. Orphanet J Rare Dis. 2022 Mar 28;17(1):139. doi: 10.1186/s13023-022-02293-x. Orphanet J Rare Dis. 2022. PMID: 35346302 Free PMC article.

8

Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome.

Shi M, Liang Y, Xie B, Wei X, Zheng H, Gui C, Huang R, Fan X, Li C, Wei X, Ma Y, Chen S, Chen Y, Gui B. Shi M, et al. Front Genet. 2022 Nov 23;13:1056127. doi: 10.3389/fgene.2022.1056127. eCollection 2022. Front Genet. 2022. PMID: 36506332 Free PMC article.

9

[Analysis of a child with DIGFAN syndrome due to variant of MORC2 gene].

Xie B, Fan X, Wei X, Gui B, Wei X, Ma Y, Feng S, Chen Y. Xie B, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Feb 10;41(2):234-238. doi: 10.3760/cma.j.cn511374-20221205-00841. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38311566 Chinese.

10

Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes.

Wei X, Ma Y, Xie B, Gui C, Shi M, Wei X, Huang Y, Fan X, Wei Q, Huang Q, Deng L, Zhang C, Deng X, Gui B, Chen Y. Wei X, et al. BMC Med Genomics. 2024 May 21;17(1):135. doi: 10.1186/s12920-024-01908-5. BMC Med Genomics. 2024. PMID: 38773466 Free PMC article.

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