Xi H - Search Results

1

De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.

Malhotra A, Ziegler A, Shu L, Perrier R, Amlie-Wolf L, Wohler E, Lygia de Macena Sobreira N, Colin E, Vanderver A, Sherbini O, Stouffs K, Scalais E, Serretti A, Barth M, Navet B, Rollier P, Xi H, Wang H, Zhang H, Perry DL, Ferrarini A, Colombo R, Pepler A, Schneider A, Tomiwa K, Okamoto N, Matsumoto N, Miyake N, Taft R, Mao X, Bonneau D. Malhotra A, et al. Among authors: xi h. J Med Genet. 2021 Oct;58(10):712-716. doi: 10.1136/jmedgenet-2020-107137. Epub 2020 Aug 20. J Med Genet. 2021. PMID: 32820033 Free PMC article.

2

[Analysis of four fetuses with de novo chromosomal rearrangments using single nucleotide polymorphism microarray chips].

Wang H, Xi H, Jia ZJ, Huang DM, Zhou YC, Wu LQ. Wang H, et al. Among authors: xi h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Dec;29(6):658-61. doi: 10.3760/cma.j.issn.1003-9406.2012.06.007. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012. PMID: 23225044 Chinese.

3

[Prenatal diagnosis of a case of Pallister-Killian syndrome].

Xi H, Wang H, Jia Z, Zhou Y, Yu H, Liu J, Wu L. Xi H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Feb;32(1):73-6. doi: 10.3760/cma.j.issn.1003-9406.2015.01.016. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015. PMID: 25636105 Chinese.

4

[Application of next-generation DNA sequencing for prenatal testing of fetal chromosomal aneuploidies].

Liu J, Wang H, Xi H, Jia Z, Zhou Y, Wu L. Liu J, et al. Among authors: xi h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Aug;32(4):533-7. doi: 10.3760/cma.j.issn.1003-9406.2015.04.019. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015. PMID: 26252102 Chinese.

5

[Application of single nucleotide polymorphism array for the identification of pathogenic copy number variations in fetuses with malformations and women with an adverse reproductive history].

Liu J, Xi H, Wang H, Jia Z, Zhou Y, Wu L. Liu J, et al. Among authors: xi h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):173-177. doi: 10.3760/cma.j.issn.1003-9406.2017.02.004. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 28397212 Chinese.

6

[Genetic screening and prenatal diagnosis for high risk families of Fragile X syndrome].

Xi H, Zhang Y, Qin L, Kang H, Duan R, Jia Z, Wang H. Xi H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Oct 10;35(5):653-656. doi: 10.3760/cma.j.issn.1003-9406.2018.05.007. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 30298488 Chinese.

7

[Prenatal diagnosis of monochorionic-diamniotic twins discordant for 45,X/46,XX mosaicism].

Hu J, Xi H, Ma N, Pang J, Luo Y, Jia Z, Wang H. Hu J, et al. Among authors: xi h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Mar 10;36(3):260-262. doi: 10.3760/cma.j.issn.1003-9406.2019.03.017. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 30835360 Chinese.

8

[Identification of a de novo interstitial 21q22.12q22.13 deletion in a patient with intellectual disability].

Peng Y, Jia Z, Pang J, Hu J, Xi H, Wang H. Peng Y, et al. Among authors: xi h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jul 10;36(7):704-707. doi: 10.3760/cma.j.issn.1003-9406.2019.07.012. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31302916 Chinese.

9

Molecular investigation in Chinese patients with primary carnitine deficiency.

Zhang Y, Li H, Liu J, Yan H, Liu Q, Wei X, Xi H, Jia Z, Wu L, Wang H. Zhang Y, et al. Among authors: xi h. Mol Genet Genomic Med. 2019 Sep;7(9):e901. doi: 10.1002/mgg3.901. Epub 2019 Jul 30. Mol Genet Genomic Med. 2019. PMID: 31364285 Free PMC article. Clinical Trial.

10

The first case of a non-infertile female patient with Pitt-Hopkins syndrome.

Li H, Zhang Y, Yu W, Shu L, Mao X, Jia Z, Xi H, Wang H. Li H, et al. Among authors: xi h. Am J Med Genet A. 2019 Nov;179(11):2311-2314. doi: 10.1002/ajmg.a.61325. Epub 2019 Aug 28. Am J Med Genet A. 2019. PMID: 31464085 No abstract available.

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