Publications by authors named "Jiwu Lou"

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Are NONO variants linked to congenital heart disease? Patient reports and review.
Peiqing He, Sini Zou, Jianxiong Chen, Meiyi Wang, Peng Lin, Jiwu Lou

Eur J Med Genet· December 2025

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Increased Serum Levels of LDHA and TPI1 in Patients With Polycystic Ovary Syndrome.
Wenjing Wang, Tizhen Yan, Manna Sun, Yueliang Li, Jiwu Lou

Proteomics Clin Appl· November 2025

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Long-read sequencing transforms the diagnosis of congenital adrenal hyperplasia: resolving pseudogene interference and structural variations.
Junfeng Zeng, Xiaoling Huang, Yanwei Li, Tizhen Yan, Jiwu Lou

Front Pediatr· June 2025

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Trimethylamine N-oxide Impairs Oocyte Maturation and Embryogenesis via NF-κB/NLRP3 Pathway Modulation.
Fengping He, Yongmei Zhang, Yanle Guo, Tizhen Yan, Jiwu Lou

Curr Cancer Drug Targets· May 2025

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Novel Frameshift Mutation as a Cause of Allan-Herndon-Dudley Syndrome and its Implications for Carrier Screening.
Peng Lin, Huituan Liu, Jiwu Lou, Guizhen Lyu, Yanwei Li

Pharmgenomics Pers Med· April 2025

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Hb H disease associated with compound heterozygosity for -- deletion and a novel alpha globin chain variant (:c.175C>A) on the distal histidine in a Chinese family.
Manna Sun, Jiwu Lou, Wang Xinghe, Ying Zhao, Yunshi Dai

Hematology· December 2024

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Quantification of human embryonic ζ-globin chains in Southeast Asian deletion (--) carriers.
Yuhua Ye, Guoying Sun, Zhe Ren, Yidan Liang, Hualei Luo, Jiwu Lou

J Clin Pathol· November 2023

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Molecular spectrum and prevalence of thalassemia investigated by third-generation sequencing in the Dongguan region of Guangdong Province, Southern China.
Jiwu Lou, Manna Sun, Aiping Mao, Yinyin Liu, Ying Zhao

Clin Chim Acta· November 2023

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[Results of carrier screening for Spinal muscular atrophy among 35 145 reproductive-aged individuals from Dongguan region].
Ying Zhao, Jiwu Lou, Youqing Fu, Yunshi Dai, Qiaoyi Liang

Zhonghua Yi Xue Yi Chuan Xue Za Zhi· June 2023

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A stepwise haematological screening and whole-exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A from a cohort of 47336 individuals.
Jiwu Lou, Yuhua Ye, Manna Sun, Ying Zhao, Youqing Fu

Int J Lab Hematol· February 2023

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Two large novel alpha-globin gene cluster deletions causing alpha(0)-thalassemia in two Chinese families.
Lou Jiwu, Sun Manna, Zhao Ying, Fu Youqing, Chen Haiyang

Gene· October 2022

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Analysis of tissue from pregnancy loss and aborted fetus with ultrasound anomaly using subtelomeric MLPA and chromosomal array analysis.
Jiwu Lou, Manna Sun, Ying Zhao, Youqing Fu, Haiming Yuan

J Matern Fetal Neonatal Med· August 2022

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Exome-based preconception carrier testing for consanguineous couples in China.
Yi He, Run-Gui Xie, Ji-Wu Lou, Yan-Wei Li, Chun-Li Wang

Prenat Diagn· October 2021

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Hyperhaemolysis in a pregnant woman with a homozygous β -thalassemia mutation and two genetic modifiers.
Lou Jiwu, Sun Manna, Meixiang Lai, Zhao Ying, Liu Yanhui

Mol Genet Genomic Med· July 2021

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Can cell-free DNA testing be used in pregnancies with isolated fetal omphalocele? Preliminary evidence from cytogenetic results of prenatal cases.
Li-Li Xu, Li Zhen, Ji-Wu Lou, Hai-Shen Tang, Min Pan

J Matern Fetal Neonatal Med· February 2021

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Recurrent Wilms tumor in a Chinese family caused by a novel WT1 variant inherited from a mosaic parent.
Yi He, Ji-Wu Lou, Run-Gui Xie, Dong-Zhi Li

Eur J Obstet Gynecol Reprod Biol· November 2020

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Molecular and Hematological Characterization of a Novel Translation Initiation Codon Mutation of the α2-Globin Gene (AT>AT or : c.3G>C).
Ya-Li Lei, Hong Sui, Yu-Juan Liu, Jun-Jun Pan, Yan-Hui Liu, Ji-Wu Lou

Hemoglobin· May 2020

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Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1.
Qingming Wang, Pengliang Chen, Jianxin Liu, Jiwu Lou, Yanhui Liu

BMC Med Genomics· May 2020

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Tetrasomy 18p Case Report.
Yi He, Juan-Juan Liao, Ying-Lin Liu, Juan Wen, Ji-Wu Lou

Clin Lab· January 2020

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Prenatal findings and molecular cytogenetic analyses of a de novo interstitial deletion of 1q23.3 encompassing PBX1 gene.
Manna Sun, Jiwu Lou, Qiaoyi Li, Jianhong Chen, Yujuan Li

Taiwan J Obstet Gynecol· March 2019

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Polymorphisms of α-Globin Genes Compromise Polymerase Chain Reaction-Based α-Thalassemia Genotyping in Three Chinese Families.
Manna Sun, Jiwu Lou, Ying Zhag, Youqing Fu, Yunshi Dai

Hemoglobin· March 2019

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Hb H Disease Results from Compound Heterozygosity of - - and -α in a Chinese Family.
Ying Zhao, Jiwu Lou, Manna Sun, Youqing Fu, Wanling Ye

Hemoglobin· January 2019

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[Rapid preimplantation genetic diagnosis of -thalassemia SEA deletion with blastocyst cell whole genome amplification and short fragment Gap-PCR method].
Huiling Xu, Yanhui Liu, Ping Yan, Yi He, Jiachun Qin, Jiwu Lou

Nan Fang Yi Ke Da Xue Xue Bao· September 2018

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Molecular and Hematological Characterization of Two Novel δ-Globin Gene Mutations Found in Chinese Individuals.
Manna Sun, Jiwu Lou, Ying Zhao, Yanhui Liu

Hemoglobin· March 2018

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Rapid and simultaneous detection of common aneuploidies by quadruplex real-time polymerase chain reaction combined with melting curve analysis.
Jiwu Lou, Manna Sun, Ying Zhao, Zhisong Ji, Fenghua Liu

PLoS One· September 2017

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