Results 101 to 110 of about 679,454 (300)

Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh, Ramiah R. Vickers, Cheryl Mensah, Wanda Dosal, Jennifer R. McKinney, April D. Adams   +5 more
wiley   +1 more source

[Quality of prenatal services in primary healthcare in Brazil: indicators and social inequalities].

Cadernos de Saúde Pública, 2017
The aim of this study was to describe quality indicators for prenatal care in Brazil as part of the Program for the Improvement of Access and Quality (PMAQ-AB).
Elaine Tomasi, P. A. Fernandes, Talita Fischer, F. V. Siqueira, Denise Silva da Silveira, Elaine Thumé, Suele Manjourany Silva Duro, Mirelle de Oliveira Saes, B. Nunes, Ana Claudia Gastal Fassa, L. A. Facchini   +10 more
semanticscholar   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study

Molecular Cytogenetics
Background Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD).
Chenxia Xu, Miaoyuan Li, Tiancai Gu, Fenghua Xie, Yanfang Zhang, Degang Wang, Jianming Peng   +6 more
doaj   +1 more source

Influences of prenatal and postnatal maternal depression on amygdala volume and microstructure in young children

Translational Psychiatry, 2017
Maternal depressive symptoms influence neurodevelopment in the offspring. Such effects may appear to be gender-dependent. The present study examined contributions of prenatal and postnatal maternal depressive symptoms to the volume and microstructure of ...
D. Wen, J. Poh, Shi-Ning Ni, Y. Chong, H. Chen, K. Kwek, L. Shek, P. Gluckman, M. Fortier, M. Meaney, A. Qiu   +10 more
semanticscholar   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Prenatal diagnosis in fetal right aortic arch using chromosomal microarray analysis and whole exome sequencing: a Chinese single-center retrospective study

Molecular Cytogenetics
Background Right aortic arch (RAA) is a common congenital aortic arch abnormality. Fetuses with RAA frequently have good outcomes after birth. However, chromosomal abnormalities and genetic syndromes suggest poor prognosis for these patients.
Lu Zhang, Ruibin Huang, Hang Zhou, Xiaomei Lin, Fei Guo, Xiangyi Jing, Yongling Zhang, Fucheng Li, Fatao Li, Qiuxia Yu, Dan Wang, Guilan Chen, Fang Fu, Min Pan, Jin Han, Dongzhi Li, Ru Li   +16 more
doaj   +1 more source

Chromosome microarray analysis in the investigation of children with congenital heart disease

BMC Pediatrics, 2017
Background Our study was aimed to explore the clinical implication of chromosome microarray analysis (CMA) in genetically etiological diagnosis of children with congenital heart disease (CHD).
Xiao-li Wu, Ru Li, Fang Fu, Min Pan, Jin Han, Xin Yang, Yong-ling Zhang, Fa-tao Li, Can Liao   +8 more
doaj   +1 more source

Meconium peritonitis: Prenatal diagnosis, postnatal management and outcome

, 2005
Objectives: Prenatal ultrasonography (USS) is a routine screening test for fetal abnormalities. Its accuracy for detecting meconium peritonitis (MP), which may carry high mortality, is important for prenatal counseling.
Tam, PKH, Tang, MHY, Tse, HY, Chan, KL, Tang, RYK   +4 more
core   +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source