Huang L - Search Results

1

Novel SLC12A1 mutations cause Bartter syndrome in two patients with different prognoses.

Yi S, Li M, Yang Q, Zhang X, Chen F, Qin Z, Yi S, Huang L, Wei H, Zhang Q, Luo J. Yi S, et al. Among authors: huang l. Clin Chim Acta. 2022 Jun 1;531:120-125. doi: 10.1016/j.cca.2022.03.025. Epub 2022 Mar 28. Clin Chim Acta. 2022. PMID: 35358470 Review.

2

A novel missense mutation in F9 gene causes hemophilia B in a family with clinical variability.

Yi S, Yang Q, Zuo Y, Li M, Luo J, Qin Z, Zhang Q, Li M, Huang L, Lu Y, Feng S, Fan X. Yi S, et al. Among authors: huang l. Blood Coagul Fibrinolysis. 2020 Mar;31(2):121-126. doi: 10.1097/MBC.0000000000000884. Blood Coagul Fibrinolysis. 2020. PMID: 31904612

3

Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationship.

Lu W, Liang M, Su J, Wang J, Li L, Zhang S, Qin Z, Huang L, Lu Y, Yi S, Yi S, Xie B, Zheng H, Luo J, Gao X, Shen Y. Lu W, et al. Among authors: huang l. Mol Genet Genomic Med. 2020 May;8(5):e1212. doi: 10.1002/mgg3.1212. Epub 2020 Mar 11. Mol Genet Genomic Med. 2020. PMID: 32160656 Free PMC article.

4

A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5.

Li W, Fan X, Zhang Y, Huang L, Jiang T, Qin Z, Su J, Luo J, Yi S, Zhang S, Shen Y. Li W, et al. Among authors: huang l. BMC Med Genet. 2020 May 11;21(1):100. doi: 10.1186/s12881-020-01039-5. BMC Med Genet. 2020. PMID: 32393339 Free PMC article.

5

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z, Su J, Li M, Yang Q, Yi S, Zheng H, Zhang Q, Chen F, Yi S, Lu W, Li W, Huang L, Xu J, Shen Y, Luo J. Qin Z, et al. Among authors: huang l. Front Genet. 2020 Jun 18;11:592. doi: 10.3389/fgene.2020.00592. eCollection 2020. Front Genet. 2020. PMID: 32625235 Free PMC article.

6

A novel splicing mutation in F8 causes various aberrant transcripts in a hemophilia A patient and identifies a new transcript from healthy individuals.

Yi S, Zuo Y, Yu Q, Yang Q, Li M, Lan Y, Huang L, Zhang Q, Qin Z, Luo J. Yi S, et al. Among authors: huang l. Blood Coagul Fibrinolysis. 2020 Dec;31(8):506-510. doi: 10.1097/MBC.0000000000000952. Blood Coagul Fibrinolysis. 2020. PMID: 32852327

7

Whole-exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature.

Qin Z, Yang Q, Yi S, Huang L, Shen Y, Luo J. Qin Z, et al. Among authors: huang l. Mol Genet Genomic Med. 2020 Dec;8(12):e1515. doi: 10.1002/mgg3.1515. Epub 2020 Nov 18. Mol Genet Genomic Med. 2020. PMID: 33205917 Free PMC article. Review.

8

Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement.

Su J, Lu W, Li M, Zhang Q, Chen F, Yi S, Yang Q, Yi S, Zhou X, Huang L, Shen Y, Luo J, Qin Z. Su J, et al. Among authors: huang l. Mol Genet Genomic Med. 2021 Apr;9(4):e1624. doi: 10.1002/mgg3.1624. Epub 2021 Mar 16. Mol Genet Genomic Med. 2021. PMID: 33724704 Free PMC article.

9

Case Report: Christianson Syndrome Caused by SLC9A6 Mutation: From Case to Genotype-Phenotype Analysis.

Lan Y, Yi S, Li M, Wang J, Yang Q, Yi S, Chen F, Huang L, Ruan Y, Shen Y, Luo J, Qin Z. Lan Y, et al. Among authors: huang l. Front Genet. 2021 Dec 20;12:783841. doi: 10.3389/fgene.2021.783841. eCollection 2021. Front Genet. 2021. PMID: 34987551 Free PMC article.

10

Novel and recurrent ASPM mutations of founder effect in Chinese population.

Li M, Luo J, Yang Q, Chen F, Chen J, Qin J, He W, Chen J, Yi S, Qin Z, Yi S, Huang L, Qiu X, Pan P, Luo J, Shen Y. Li M, et al. Among authors: huang l. Brain Dev. 2022 Sep;44(8):540-545. doi: 10.1016/j.braindev.2022.04.007. Epub 2022 Apr 28. Brain Dev. 2022. PMID: 35491272

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