Mao X - Search Results

1

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: mao x. 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.

2

Biallelic pathogenic variants in TBCD-related neurodevelopment disease with mild clinical features.

Tian D, Rizwan K, Liu Y, Kang L, Yang Y, Mao X, Shu L. Tian D, et al. Among authors: mao x. Neurol Sci. 2019 Nov;40(11):2325-2331. doi: 10.1007/s10072-019-03979-0. Epub 2019 Jun 25. Neurol Sci. 2019. PMID: 31240573

3

A De Novo Variant Identified in the PPP2R1A Gene in an Infant Induces Neurodevelopmental Abnormalities.

Zhang Y, Li H, Wang H, Jia Z, Xi H, Mao X. Zhang Y, et al. Among authors: mao x. Neurosci Bull. 2020 Feb;36(2):179-182. doi: 10.1007/s12264-019-00430-4. Epub 2019 Sep 17. Neurosci Bull. 2020. PMID: 31531803 Free PMC article. No abstract available.

4

Exosomes from patients with major depression cause depressive-like behaviors in mice with involvement of miR-139-5p-regulated neurogenesis.

Wei ZX, Xie GJ, Mao X, Zou XP, Liao YJ, Liu QS, Wang H, Cheng Y. Wei ZX, et al. Among authors: mao x. Neuropsychopharmacology. 2020 May;45(6):1050-1058. doi: 10.1038/s41386-020-0622-2. Epub 2020 Jan 27. Neuropsychopharmacology. 2020. PMID: 31986519 Free PMC article.

5

The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric K_Na1.1/K_Na1.2 Potassium Channel.

Mao X, Bruneau N, Gao Q, Becq H, Jia Z, Xi H, Shu L, Wang H, Szepetowski P, Aniksztejn L. Mao X, et al. Front Cell Neurosci. 2020 Jan 24;14:1. doi: 10.3389/fncel.2020.00001. eCollection 2020. Front Cell Neurosci. 2020. PMID: 32038177 Free PMC article.

6

De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.

Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfeld JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF; Undiagnosed Diseases Network; Chao HT, Long H, Feng L, Bacino CA, Bellen HJ, Xiao B. Chung HL, et al. Among authors: mao x. Am J Hum Genet. 2020 May 7;106(5):717-725. doi: 10.1016/j.ajhg.2020.04.001. Epub 2020 Apr 23. Am J Hum Genet. 2020. PMID: 32330417 Free PMC article.

7

Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay.

Huang Y, Mao X, van Jaarsveld RH, Shu L, Terhal PA, Jia Z, Xi H, Peng Y, Yan H, Yuan S, Li Q, Wang H, Bellen HJ. Huang Y, et al. Among authors: mao x. Hum Mol Genet. 2020 Jun 3;29(9):1537-1546. doi: 10.1093/hmg/ddaa078. Hum Mol Genet. 2020. PMID: 32338762 Free PMC article.

8

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: mao x. 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.

9

MN1 gene loss-of-function mutation causes cleft palate in a pedigree.

Shu L, He D, Wu D, Peng Y, Xi H, Mao X, Wang H. Shu L, et al. Among authors: mao x. Brain. 2021 Mar 3;144(2):e18. doi: 10.1093/brain/awaa431. Brain. 2021. PMID: 33351070 Free PMC article. No abstract available.

10

Oxidative stress marker aberrations in children with autism spectrum disorder: a systematic review and meta-analysis of 87 studies (N = 9109).

Chen L, Shi XJ, Liu H, Mao X, Gui LN, Wang H, Cheng Y. Chen L, et al. Among authors: mao x. Transl Psychiatry. 2021 Jan 5;11(1):15. doi: 10.1038/s41398-020-01135-3. Transl Psychiatry. 2021. PMID: 33414386 Free PMC article.

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