Results 61 to 70 of about 446,142 (191)

Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report

BMC Medical Genetics, 2020
Background Intellectual disability (ID) constitutes the most common group of neurodevelopmental disorders. Exome sequencing has enabled the discovery of genetic mutations responsible for a wide range of ID disorders.
Yanyan Qian, Bingbing Wu, Yulan Lu, Wenhao Zhou, Sujuan Wang, Huijun Wang   +5 more
doaj   +1 more source

Natural Radiation Induced Developmental Disability: An Avian Model [PDF]

, 2011
Radiation exposure during gestation causes mutation in the fetus leading to birth defects in the newborn. On a survey of the coastal villages of Kanyakumari District, Tamilnadu, India, high levels of background radiation were detected, which was ...
Basil Rose MR, Jeni Chandar Padua
core   +1 more source

Perturbation of Retinoid Homeostasis Increases Malformation Risk in Embryos Exposed to Pregestational Diabetes [PDF]

, 2017
Pregestational diabetes is highly associated with increased risk of birth defects. However, factors that can increase or reduce expressivity and penetrance of malformations in diabetic pregnancies remain poorly identified.
Copp, AJ, Kwok, RC, Lee, LM, Leung, MB, Leung, YC, McCaffery, PJ, Shum, AS, Wang, CC   +7 more
core   +1 more source

Association of IRX6 rs6499755 and HAAO rs3816183 Polymorphisms With Hypospadias Susceptibility in Northern Chinese Han Population

Genetics Research
Conclusions: IRX6 rs6499755 and HAAO rs3816183 polymorphisms were associated with hypospadias in Chinese Northern Han, and there is a potential interaction between IRX6 rs6499755 and HAAO rs3816183 affecting the risk of hypospadias.
Nan Liu, Yuping Yu, Ziying Chen, Jianbo Shu, Xiaofang Chen, Guodong Xu, Chunquan Cai   +6 more
doaj   +1 more source

Huaier inhibits autophagy and promotes apoptosis in T-cell acute lymphoblastic leukemia by down-regulating SIRT1

Heliyon
Objective: Due to the high drug resistance and relapse rate of T-cell acute lymphoblastic leukemia (T-ALL), the prognosis is usually poor. Therefore, there is an urgent need to find safer and more effective therapeutic drugs. Huaier and its preparations,
Xiang Qin, Xi Chen, Fan Wang, Fangfang Zhong, Yan Zeng, Wenjun Liu   +5 more
doaj   +1 more source

A Computational Approach to Estimating Nondisjunction Frequency in Saccharomyces cerevisiae. [PDF]

, 2016
Errors segregating homologous chromosomes during meiosis result in aneuploid gametes and are the largest contributing factor to birth defects and spontaneous abortions in humans.
Burgess, Sean M, Chu, Daniel B
core   +3 more sources

Novel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel–Gruber Syndrome 8 in a Non‐Consanguineous Chinese Family

Molecular Genetics & Genomic Medicine
Introduction Meckel‐Gruber syndrome (MKS, OMIM 24,900), also known as Meckel syndrome, is a rare and severe autosomal recessive disorder. The syndrome is typically characterized by a triad of occipital encephalocele, bilateral renal cystic dysplasia, and
Qi Yang, Wei He, Qiang Zhang, Sheng Yi, Xunzhao Zhou, Shujie Zhang, Shang Yi, Qinle Zhang, Jingsi Luo   +8 more
doaj   +1 more source

Regulation of cell protrusions by small GTPases during fusion of the neural folds

eLife, 2016
Epithelial fusion is a crucial process in embryonic development, and its failure underlies several clinically important birth defects. For example, failure of neural fold fusion during neurulation leads to open neural tube defects including spina bifida.
Ana Rolo, Dawn Savery, Sarah Escuin, Sandra C de Castro, Hannah EJ Armer, Peter MG Munro, Matteo A Molè, Nicholas DE Greene, Andrew J Copp   +8 more
doaj   +1 more source

Genetic Polymorphisms and QF-PCR Performance Evaluation of 20 Autosomal STR Loci on Chromosomes 13, 18, and 21 in Prenatal Diagnosis Among East Chinese Han Population

The Application of Clinical Genetics
Yingwen Liu,1,2 Jiangyang Xue,1,2 Lulu Yan,1,2 Changshui Chen,2 Shumin Zhao,3 Haibo Li1,2 1The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children’s Hospital of Ningbo University, Ningbo, Zhejiang, 315000, People’
Liu Y, Xue J, Yan L, Chen C, Zhao S, Li H   +5 more
doaj  

Book Review of Michael D. Green, Bendectin and Birth Defects: The Challenges of Mass Toxic Substance Litigation [PDF]

, 1997
Review of Michael D. Green, Bendectin and Birth Defects: The Challenges of Mass Toxic Substances Litigation (University of Pennsylvania Press 1996). Acknowledgements, index, preface, selected bibliography. LC 95-42306; ISBN 0-8122-3257-7 [368 pp.
Oglevee, Stefan
core   +2 more sources