Results 31 to 40 of about 157,842 (260)

Reproductive outcomes in couples with sporadic miscarriage after embryonic chromosomal microarray analysis

Annals of Medicine, 2023
Objectives Chromosomal microarray analysis (CMA) has been widely applied to genetic diagnosis in miscarriages in clinical practice. However, the prognostic value of CMA testing of products of conception (POCs) after the first clinical miscarriage remains
Zhengyi Xia, Ran Zhou, Yiming Li, Lulu Meng, Mingtao Huang, Jianxin Tan, Fengchang Qiao, Hui Zhu, Ping Hu, Qiaoying Zhu, Zhengfeng Xu, Yan Wang   +11 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Genetic test results and one-year developmental outcomes of fetuses with congenital heart disease

Frontiers in Pediatrics
ObjectiveThis study evaluated the utility of single nucleotide polymorphism (SNP) microarray analysis in prenatal genetic assessment of fetuses diagnosed with congenital heart disease (CHD), retrospectively analyzing pregnancy outcomes and their ...
Hui Hu, Bo Zhou, Qunda Shan, Shuangshuang Shen, Xiangdong Zhang, Penglong Chen, Jiao Liu, Xiaofang Lan   +7 more
doaj   +1 more source

Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes

Molecular Cytogenetics, 2019
Background Isodicentric Y chromosomes [idic(Y)] are one of the most common structural abnormalities of the Y chromosome. The prenatal diagnosis of isodicentric Y chromosomes is of vital importance, and the postnatal phenotypes vary widely.
Yang Yang, Wang Hao
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Metabolic profiling and early prediction models for gestational diabetes mellitus in PCOS and non-PCOS pregnant women

European Journal of Medical Research
Background Gestational diabetes mellitus (GDM) is the most common pregnancy complication, significantly affecting maternal and neonatal health. Polycystic ovary syndrome (PCOS) is a common endocrine disorder characterized by metabolic abnormalities ...
Jin Wang, Can Cui, Fei Hou, Zhiyan Wu, Yingying Peng, Hua Jin   +5 more
doaj   +1 more source

Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene

Molecular Cytogenetics, 2022
Background A male individual with a karyotype of 46,XX is very rare. We explored the genetic aetiology of an infertility male with a kayrotype of 46,XX and SRY negative.
Shengfang Qin, Xueyan Wang, Jin Wang
doaj   +1 more source

Exposure to Bisphenol A induces abnormal fetal heart development by promoting ferroptosis

Ecotoxicology and Environmental Safety, 2023
Background: Bisphenol A (BPA), a common endocrine-disrupting chemical (EDC), has been revealed to be closely associated with the induction of abnormal heart development, obesity, prediabetes, and other metabolic disorders.
Chen Yujiao, Zhang Meng, Li Shanshan, Wang Wei, Wang Yipeng, Yin Chenghong   +5 more
doaj   +1 more source

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

Arthritis Care &Research, EarlyView.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley   +1 more source

Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report

Frontiers in Genetics, 2021
BackgroundHarlequin ichthyosis (HI) is the most severe form of the keratinizing disorders, and it is characterized by whole-body hard stratum corneum. ABCA12 has been identified as the major disease-causing gene of HI.MethodsA case of HI was prenatally ...
Jiao Liu, Xingyu Zhang, Weilan Wang, Xiaofang Lan, Minyue Dong, Kai Yan, Yongliang Lei, Penglong Chen, Mufeng Yang, Qunda Shan, Chunlei Jin   +10 more
doaj   +1 more source