Hao C - Search Results

1

Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4.

Chen Y, Fang B, Hu X, Guo R, Guo J, Fang K, Ni J, Li W, Qian S, Hao C. Chen Y, et al. Among authors: hao c. Orphanet J Rare Dis. 2021 Sep 29;16(1):403. doi: 10.1186/s13023-021-02028-4. Orphanet J Rare Dis. 2021. PMID: 34587972 Free PMC article.

2

The BLOC interactomes form a network in endosomal transport.

Li W, Feng Y, Hao C, Guo X, Cui Y, He M, He X. Li W, et al. Among authors: hao c. J Genet Genomics. 2007 Aug;34(8):669-82. doi: 10.1016/S1673-8527(07)60076-9. J Genet Genomics. 2007. PMID: 17707211 Review.

3

Dysbindin deficiency in sandy mice causes reduction of snapin and displays behaviors related to schizophrenia.

Feng YQ, Zhou ZY, He X, Wang H, Guo XL, Hao CJ, Guo Y, Zhen XC, Li W. Feng YQ, et al. Schizophr Res. 2008 Dec;106(2-3):218-28. doi: 10.1016/j.schres.2008.07.018. Epub 2008 Sep 5. Schizophr Res. 2008. PMID: 18774265

4

Mutation of SLC35D3 causes metabolic syndrome by impairing dopamine signaling in striatal D1 neurons.

Zhang Z, Hao CJ, Li CG, Zang DJ, Zhao J, Li XN, Wei AH, Wei ZB, Yang L, He X, Zhen XC, Gao X, Speakman JR, Li W. Zhang Z, et al. PLoS Genet. 2014 Feb 13;10(2):e1004124. doi: 10.1371/journal.pgen.1004124. eCollection 2014 Feb. PLoS Genet. 2014. PMID: 24550737 Free PMC article.

5

A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy.

Guo J, Li Z, Hao C, Guo R, Hu X, Qian S, Zeng J, Gao H, Li W. Guo J, et al. Among authors: hao c. Mol Genet Genomic Med. 2019 Aug;7(8):e828. doi: 10.1002/mgg3.828. Epub 2019 Jul 3. Mol Genet Genomic Med. 2019. PMID: 31268246 Free PMC article.

6

Whole-exome sequencing identifies a novel compound heterozygous mutation of ANKS6 gene in a Chinese nephronophthisis patient.

Fang B, Guo J, Hao C, Guo R, Qian S, Li W, Jia X. Fang B, et al. Among authors: hao c. Clin Chim Acta. 2020 Feb;501:131-135. doi: 10.1016/j.cca.2019.10.030. Epub 2019 Oct 31. Clin Chim Acta. 2020. PMID: 31678577

7

Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report.

Liu J, Hu XY, Zhao ZP, Guo RL, Guo J, Li W, Hao CJ, Xu BP. Liu J, et al. BMC Med Genet. 2019 Nov 14;20(1):182. doi: 10.1186/s12881-019-0919-3. BMC Med Genet. 2019. PMID: 31727123 Free PMC article.

8

[Analysis of SMARCA2 gene mutation in a child with Nicolaides-Baraitser syndrome].

Hu X, Guo R, Guo J, Li W, Liu L, Hao C. Hu X, et al. Among authors: hao c. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Dec 10;36(12):1187-1190. doi: 10.3760/cma.j.issn.1003-9406.2019.12.009. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31813144 Chinese.

9

A novel 14q13.1-21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency.

Hu X, Liu J, Guo R, Guo J, Zhao Z, Li W, Xu B, Hao C. Hu X, et al. Among authors: hao c. Mol Cytogenet. 2019 Dec 19;12:51. doi: 10.1186/s13039-019-0463-z. eCollection 2019. Mol Cytogenet. 2019. PMID: 31890031 Free PMC article.

10

[Clinical practice guidelines for albinism].

Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Li W, Wei A, Bai D, Qi Z, Hao C. Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, et al. Among authors: hao c. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Mar 10;37(3):252-257. doi: 10.3760/cma.j.issn.1003-9406.2020.03.005. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32128740 Chinese.

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