Identification of four TTN variants in three families with fetal akinesia deformation sequence

Authors: Lihong Fan, Haibo Li, Ying Xu, Yingzhi Huang, Yeqing Qian, Pengzhen Jin, Xueping Shen, Zhi Li, Mingsong Liu, Yufei Liang, Guosong Shen, Minyue Dong

Source: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)

Subject Terms: TTN, Whole-exome sequencing, Fetal akinesia deformation sequence (FADS), RT-PCR, Meta transcript-only, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/a5fe0de952454c16b29b2fcdd9e03b55

Next-generation sequencing based newborn screening and comparative analysis with MS/MS

Authors: Guosong Shen, Wenwen Li, Yaqin Zhang, Lyuyan Chen

Source: BMC Pediatrics, Vol 24, Iss 1, Pp 1-7 (2024)

Subject Terms: Newborn screening, Inherited metabolic diseases, Gene mutations, Next-generation sequencing, Tandem mass spectrometry, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2431

Access URL: https://doaj.org/article/b8e2940d2496410b857672897d8c1218

Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors

Authors: Xueping Shen, Zhi Li, Xuekui Pan, Juan Yao, Guosong Shen, Su Zhang, Minyue Dong, Lihong Fan

Source: Frontiers in Genetics, Vol 13 (2023)

Subject Terms: prenatal moderate skeletal dysplasia, lamin B receptor, NM_002296.4:c.1757G>A, NP_002287.2:p.Arg586His, whole-exome sequencing, genetic counseling, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.1020475/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/00d2976ea5d9477abb915b2992944e7d

Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO)

Authors: Lihong Fan, Pengzhen Jin, Yeqing Qian, Guosong Shen, Xueping Shen, Minyue Dong

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: postaxial polydactyly, whole-exome sequencing, bi-allelic variants, smoothened, genetic counseling, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.887082/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/92f9613d660447a3a2f098aeef624c5e

A Novel Mutation c.3392G>T of COL2A1 Causes Spondyloepiphyseal Dysplasia Congenital by Affecting Pre-mRNA Splicing

Authors: Lihong Fan, Longfei Ji, Yuqing Xu, Guosong Shen, Kefeng Tang, Zhi Li, Sisi Ye, Xueping Shen

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: spondyloepiphyseal dysplasia congenital, COL2A1, next-generation sequencing, minigene, in-frame deletion, prenatal diagnosis, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.827560/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/46b6e809e4bc4fee861ec8481649f54c

A multicenter study of fetal chromosomal abnormalities in Chinese women of advanced maternal age

Authors: Yuning Zhu, Shiming Lu, Xuming Bian, He Wang, Baosheng Zhu, Hua Wang, Zhengfeng Xu, Liangpu Xu, Weihua Yan, Yan Zeng, Zhiyang Chen, Shaohua Tang, Guosong Shen, Zhengyou Miao

Source: Taiwanese Journal of Obstetrics & Gynecology, Vol 55, Iss 3, Pp 379-384 (2016)

Subject Terms: advanced maternal age, amniotic fluid, clinically significant chromosome abnormalities, genetic counseling, prenatal diagnosis, Gynecology and obstetrics, RG1-991

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1028455916300031; https://doaj.org/toc/1028-4559

Access URL: https://doaj.org/article/c36e62612e60403db30beed6e6eaafa7

Analysis of SYNE1 gene variant in an infant featuring epilepsy and developmental disorders

Authors: Xinli, Zhang, Xueping, Shen, Liming, Pan, Fengfeng, Qi, Guosong, Shen

Source: Zhonghua yi xue yi chuan xue za zhi. 36(11):1111-1114

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN623388310&indx=1&recIds=ETOCRN623388310

Current status of cytomegalovirus infection in pregnant women and its correlation with pregnancy outcomes in Huzhou

Authors: Juan, Yao, Rong, Fang, Guoping, Shen, Guosong, Shen, Su, Zhang, Yan, Lu, Haiyan, Li

Source: Zhonghua shi yan he lin chuang bing du xue za ji. 33(6):617-621

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN623402354&indx=1&recIds=ETOCRN623402354

Genetic analysis of two cases with Dandy-Walker deformed fetus

Authors: Juan, Yao, Rong, Fang, Xueping, Shen, Guosong, Shen, Su, Zhang

Source: Zhonghua yi xue yi chuan xue za zhi. 34(5):666-670

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN613614200&indx=1&recIds=ETOCRN613614200

Pre-implantation genetic screening of discarded embryos through whole genome amplification and next-generation sequencing

Authors: Yurong, Zhu, Chunling, Liu, Sheng, Yang, Peng, Liu, Guosong, Shen

Source: Zhonghua yi xue yi chuan xue za zhi. 35(3):337-337

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN617120609&indx=1&recIds=ETOCRN617120609

Nutrient Status of Vitamin D among Chinese Children.

Authors: Shuojia Wang, Guosong Shen, Shuying Jiang, Hongwei Xu, Minchao Li, Zhaopin Wang, Su Zhang, Yunxian Yu

Source: Nutrients; Apr2017, Vol. 9 Issue 4, p319, 10p

Identification of Biomarkers by Proteomics for Prenatal Screening for Neural Tube Defects.

Authors: Guosong Shen, Pingya He, Ying Du, Su Zhang

Source: Tohoku Journal of Experimental Medicine; Feb2016, Vol. 238 Issue 2, p123-129, 7p

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