Results 111 to 120 of about 5,507,798 (394)

Possibilities and limits of Prenatal Care for Men in a city in Northeastern Brazil [PDF]

, 2023
Risia Raphaely do Rêgo Barros Melo, Ana Suerda Leonor Gomes Leal, Gabriella Barreto Soares   +2 more
openalex   +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 De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing

Molecular Genetics & Genomic Medicine, 2019
Background Next‐generation sequencing has been invaluable to delineate the genetic etiology of neurodevelopmental disorders (NDDs) in recent years. BCL11B, encoding Cys2His2 zinc finger transcription factor, is essential for the development of immune and
Fengchang Qiao, Chen Wang, Chunyu Luo, Yan Wang, Binbin Shao, Jianxin Tan, Ping Hu, Zhengfeng Xu   +7 more
doaj   +1 more source

Noninvasive prenatal tests for chromosomal abnormality screening in in vitro fertilisation elderly pregnant women in northwest China [PDF]

Journal of Medical Biochemistry
Background: The study aimed to explore the value of using noninvasive prenatal tests (NIPT) in the second trimester of pregnancy for chromosomal abnormality screening in vitro fertilisation (IVF) in elderly pregnant women and to analyse the reasons for ...
Xue Shuyuan, Wang Lixia, Yu Zhen, Zhu Jingying, Feng Le, Din Guifeng, Dai Penggao   +6 more
doaj   +1 more source

Social determinants of health and disparities in prenatal care utilization during the Great Recession period 2005-2010

BMC Pregnancy and Childbirth, 2019
BackgroundEarly, regular prenatal care utilization is an important strategy for improving maternal and infant health outcomes. The purpose of this study is to better understand contributing factors to disparate prenatal care utilization outcomes among ...
Erin Abu-Rish Blakeney, J. Herting, B. Bekemeier, B. Zierler   +3 more
semanticscholar   +1 more source

Does Marriage Really Mattter? Investments in Prenatal Care and Birth Outcomes [PDF]

Nonmarital childbearing has increased dramatically in the United States in recent decades. A great deal of attention has been paid by both academics and policy makers to this increase, in part because of concerns that having a single mother negatively ...
Alison Jacknowitz, Lucie Schmidt
core  

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Analyzing false‐negative results detected in low‐risk non‐invasive prenatal screening cases

Molecular Genetics & Genomic Medicine, 2020
Background The non‐invasive prenatal screening (NIPS) has been introduced into clinical practice with a high sensitivity and specificity. Although the false‐negative results are inevitable and important, limited false‐negative NIPS results have been ...
Ying Lin, Dong Liang, Yan Wang, Hang Li, An Liu, Ping Hu, Zhengfeng Xu   +6 more
doaj   +1 more source

Influence of the Adequacy of the Prenatal Care Utilization Index on Small-For-Gestational-Age Infants and Preterm Births in the United States

Journal of Clinical Medicine, 2019
Little is known about the associations of Adequacy of Prenatal Care Utilization (APNCU) index with small-for-gestational-age (SGA) infants and preterm births.
Dayeon Shin, Won O Song
semanticscholar   +1 more source

Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision‐Making and Polygenic Embryo Screening

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.
Lauren A. Ginn, Amanda R. Merner, Page M. Trotter, Kaitlynn P. Craig, Abigail C. Martinez, Ana Lucía Battaglino, Dorit Barlevy, Daphne M. Ayton, Takahiro Soda, Eric A. Storch, Gabriel Lázaro‐Muñoz, Stacey Pereira   +11 more
wiley   +1 more source