Results 41 to 50 of about 4,096,588 (418)

A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family

BMC Cardiovascular Disorders, 2020
Background TAB2 is an activator of MAP 3 K7/TAK1, which is required for the IL-1 induced signal pathway. Microdeletions encompassing TAB2 have been detected in various patients with congenital heart defects (CHD), indicating that haploinsufficiency of ...
Jia Chen, Huizhen Yuan, Kang Xie, Xinrong Wang, Linglong Tan, Yongyi Zou, Yan Yang, Lu Pan, Junfang Xiao, Ge Chen, Yanqiu Liu   +10 more
doaj   +1 more source

Identification and verification of potential biomarkers in sertoli cell-only syndrome via bioinformatics analysis

Scientific Reports, 2023
Sertoli cell-only syndrome (SCOS), a severe testicular spermatogenic failure, is characterized by total absence of male germ cells. To better expand the understanding of the potential molecular mechanisms of SCOS, we used microarray datasets from the ...
Yuting Jiang, Xiao Yang, Linlin Li, Xin Lv, Ruixue Wang, Hongguo Zhang, Ruizhi Liu   +6 more
doaj   +1 more source

Cardiopatias Congénitas Complexas: Influência do Diagnóstico Pré-Natal [PDF]

, 2015
INTRODUCTION: Complex congenital heart disease is a group of severe conditions. Prenatal diagnosis has implications on morbidity and mortality for most severe conditions.
Anjos, R, Correia, M, Fortunato, F, Martins, D, Menezes, I, Nogueira, G, Teixeira, A   +6 more
core   +2 more sources

C-banding and AgNOR-staining were still effective complementary methods to indentify chromosomal heteromorphisms and some structural abnormalities in prenatal diagnosis

Molecular Cytogenetics, 2019
Background In prenatal diagnosis, CMA has begun to emerge as a favorable alternative to karyotype analysis, but it could not identify balanced translocations, triploidies, inversion and heteromorphisms.
Jian Jiang Zhu, Hong Qi, Li Rong Cai, Xiao Hui Wen, Wen Zeng, Guo Dong Tang, Yao Luo, Ran Meng, Xue Qun Mao, Shao Qin Zhang   +9 more
doaj   +1 more source

Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings [PDF]

, 2016
Proximal focal femoral deficiency (PFFD) is a rare musculoskeletal malformation that occurs in 0.11-0.2 per 10,000 live births. This congenital anomaly involves the pelvis and proximal femur with widely variable manifestations, from mild femoral ...
Aikten, Alanay, Amstutz, Anton, Ashkenazy, Bevan-Thomas, Bronstein, Camera, Cuillier, Dillon, Doğer, Filly, Filly, Geipel, Gonçalves, Gupta, Hadi, Hamanishi, Jeanty, Keret, Lessoway, Lin, Macé, Mailath-Pokorny, Maldjian, Merz, Nemec, Oh, Otera, Parakh, Salomon, Silvas, Torre, Westberry   +33 more
core   +1 more source

Case Report: Exome Sequencing Identified a Novel Compound Heterozygous Variation in PLOD2 Causing Bruck Syndrome Type 2

Frontiers in Genetics, 2021
Bruck Syndrome (BRKS) is a rare type of recessive osteogenesis imperfecta (OI) and consists of two subtypes, BRKS1 and BRKS2, which are caused by variations in FKBP10 and PLOD2 genes, respectively.
Jing Zhang, Huaying Hu, Huaying Hu, Weihong Mu, Mei Yu, Wenqi Chen, Dongqing Mi, Kai Yang, Qing Guo   +8 more
doaj   +1 more source

ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient?

Prenatal Diagnosis, 2018
The American College of Obstetricians and Gynecologists (ACOG) and Society for Maternal‐Fetal Medicine (SMFM) recommend chromosomal microarray analysis (CMA) for prenatal diagnosis in cases with 1 or more fetal structural abnormalities.
Sara B Hay, T. Sahoo, Mary K. Travis, K. Hovanes, N. Dzidic, Charles Doherty, M. Strecker   +6 more
semanticscholar   +1 more source

Does prenatal diagnosis modify neonatal treatment and early outcome of children with esophageal atresia? [PDF]

, 2015
OBJECTIVE: Our study aimed at (1) evaluating neonatal treatment and outcome of neonates with either a prenatal or a postnatal diagnosis of esophageal atresia (EA) and (2) analyzing the impact of prenatal diagnosis on outcome based on the type of EA ...
A. Bonnard, C. Garabedian, C. Langlois, F. Auber, F. Gottrand, French Network on Atresia, L. Michaud, N. Khen-Dunlop, R. Sfeir, T. Gelas, V. Houfflin-Debarge   +10 more
core   +3 more sources

A rare Down syndrome foetus with de novo 21q;21q rearrangements causing false negative results in non-invasive prenatal testing: a case report

BMC Medical Genomics, 2020
Background Non-invasive prenatal testing (NIPT) has been established as a routine prenatal screening to assess the risk of common foetal aneuploidy disorder (trisomy 21, 18, and 13).
Hui-Hui Xu, Mei-Zhen Dai, Kai Wang, Yang Zhang, Fei-Yan Pan, Wei-Wu Shi   +5 more
doaj   +1 more source

Effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray on detection of copy number variants and uniparental disomy in prenatal diagnosis: Results from 5026 pregnancies

Prenatal Diagnosis, 2019
We evaluated the effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray (CMA) on the detection of copy number variants (CNVs) and uniparental disomy (UPD) in prenatal diagnosis.
Jia-Chi Wang, J. Radcliff, Sandra J Coe, Loretta W. Mahon   +3 more
semanticscholar   +1 more source