Zhang HZ - Search Results

1

Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia.

Wu W, Liu Y, Zhou Q, Wang Q, Luo F, Xu Z, Geng Q, Li P, Zhang HZ, Xie J. Wu W, et al. Among authors: zhang hz. Eur J Med Genet. 2017 Jul;60(7):369-373. doi: 10.1016/j.ejmg.2017.04.008. Epub 2017 Apr 15. Eur J Med Genet. 2017. PMID: 28419882

2

FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6.

Zhang HZ, Li P, Wang D, Huff S, Nimmakayalu M, Qumsiyeh M, Pober BR. Zhang HZ, et al. Am J Med Genet A. 2004 Jan 30;124A(3):280-7. doi: 10.1002/ajmg.a.20413. Am J Med Genet A. 2004. PMID: 14708101 Review.

3

Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement.

Li P, Zhang HZ, Huff S, Nimmakayalu M, Qumsiyeh M, Yu J, Szekely A, Xu T, Pober BR. Li P, et al. Among authors: zhang hz. Am J Med Genet A. 2006 Dec 15;140(24):2721-9. doi: 10.1002/ajmg.a.31498. Am J Med Genet A. 2006. PMID: 17103440

4

Unique genomic structure and distinct mitotic behavior of ring chromosome 21 in two unrelated cases.

Zhang HZ, Xu F, Seashore M, Li P. Zhang HZ, et al. Cytogenet Genome Res. 2012;136(3):180-7. doi: 10.1159/000336978. Epub 2012 Mar 7. Cytogenet Genome Res. 2012. PMID: 22398511

5

A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.

Chai H, DiAdamo A, Grommisch B, Xu F, Zhou Q, Wen J, Mahoney M, Bale A, McGrath J, Spencer-Manzon M, Li P, Zhang H. Chai H, et al. Front Genet. 2019 Nov 20;10:1162. doi: 10.3389/fgene.2019.01162. eCollection 2019. Front Genet. 2019. PMID: 31850057 Free PMC article.

6

Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss.

Zhao C, Chai H, Zhou Q, Wen J, Reddy UM, Kastury R, Jiang Y, Mak W, Bale AE, Zhang H, Li P. Zhao C, et al. Genet Med. 2021 Mar;23(3):435-442. doi: 10.1038/s41436-020-01008-6. Epub 2020 Oct 26. Genet Med. 2021. PMID: 33100332 Free article.

7

[A review of consensus statements, practice resources, standards and guidelines for clinical applications of next-generation sequencing technologies in the United States].

Zhao C, Xie X, Ji W, Qi M, Zhou Q, Li M, Li P, Jiang Y, Zhang H. Zhao C, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Jun 10;38(6):513-520. doi: 10.3760/cma.j.cn511374-20200924-00691. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 34096016 Review. Chinese.

8

Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.

Wen J, Chai H, Grommisch B, DiAdamo A, Dykas D, Ma D, Popa A, Zhao C, Spencer-Manzon M, Jiang YH, McGrath J, Li P, Bale A, Zhang H. Wen J, et al. Am J Med Genet A. 2022 Jun;188(6):1728-1738. doi: 10.1002/ajmg.a.62693. Epub 2022 Feb 23. Am J Med Genet A. 2022. PMID: 35199448

9

Genotype-Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature.

Xie X, Chai H, DiAdamo A, Grommisch B, Wen J, Zhang H, Li P. Xie X, et al. Glob Med Genet. 2022 Mar 11;9(2):166-174. doi: 10.1055/s-0042-1743568. eCollection 2022 Jun. Glob Med Genet. 2022. PMID: 35707784 Free PMC article.

10

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH, Ockeloen CW, Jongmans MC, Van der Aa N, Failla P, Barone C, Avola E, Brooks AS, Kant SG, Gerkes EH, Firth HV, Õunap K, Bird LM, Masser-Frye D, Friedman JR, Sokunbi MA, Dixit A, Splitt M; DDD Study; Kukolich MK, McGaughran J, Coe BP, Flórez J, Nadif Kasri N, Brunner HG, Thompson EM, Gecz J, Romano C, Eichler EE, de Vries BB. Koolen DA, et al. Among authors: zhang hz. Eur J Hum Genet. 2016 May;24(5):652-9. doi: 10.1038/ejhg.2015.178. Epub 2015 Aug 26. Eur J Hum Genet. 2016. PMID: 26306646 Free PMC article.

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