Results 121 to 130 of about 793,157 (300)

Clinical application of polar body-based preimplantation genetic testing for maternal mutations in women with a limited number of oocytes

Orphanet Journal of Rare Diseases
Background Trophectoderm (TE) cell biopsy at the blastocyst stage is currently the most common method used in preimplantation genetic testing for monogenic disorders (PGT-M). However, this approach may result in the wasting of some genetically unaffected
Jia Chen, Xingwu Wu, Qiang Xu, Tao Ding, Ge Chen, Houyang Chen, Yongyi Zou, Jialyu Huang, Ziyu Zhang, Lifeng Tian, Yan Zhao, Ranhui Duan, Zengming Li, Qiongfang Wu, Yanqiu Liu   +14 more
doaj   +1 more source

Parental Education and Child Health - Understanding the Pathways of Impact in Pakistan [PDF]

This study investigates the relationship between parental schooling on the one hand, and child health outcomes (height and weight) and parental health-seeking behaviour (immunisation status of children), on the other.
Geeta Kingdon, Monazza Aslam
core  

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

A study on the correlation between pregnancy risk factors and birth outcomes

Scientific Reports
Adverse birth outcomes—including low birth weight (LBW,
Yan Li, Ying Zhao, Yang Wu, Gang Luo
doaj   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Good care practices can mitigate the negative effects of poverty and low maternal schooling on children's nutritional status [PDF]

This study uses data from a representative survey of households with preschoolers in Accra, Ghana to (1) examine the importance of care practices for children's height-for-age z-scores (HAZ); and (2) identify subgroups of children for whom good maternal ...
Armar-Klemesu, Margaret, Levin, Carol E., Maxwell, Daniel G., Morris, Saul Sutkover, Ruel, Marie T.   +4 more
core  

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Identification and validation of a refined CAF-Associated diagnostic signature in breast cancer

Scientific Reports
Breast cancer remains a major global health challenge with high incidence and mortality rates among women. Recent studies have highlighted the critical role of the tumor microenvironment, particularly cancer-associated fibroblasts (CAFs), in tumor ...
Xin Zhou, Na Wang, Ling Shi, Dongxin Wei, Xiaoqin Sun, Mingxiu Shao, Liang Tian, Xiaolong Guo, Fangyuan Zhang, Hui Lyu   +9 more
doaj   +1 more source