Results 131 to 140 of about 4,816,070 (413)

Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent‐Centered Website: Parental and Professional Views

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The scarcity of clinical information surrounding rare chromosome disorders poses challenges for parents and clinicians. To bridge this gap for chromosome 6 disorders, the Chromosome 6 Project collects detailed genotype and phenotype data, aiming to provide aberration‐specific phenotype information to parents via an interactive website.
Eleana Rraku, Aafke Engwerda, Tyler D. Medina, Morris A. Swertz, Lennart F. Johansson, Conny M. A. van Ravenswaaij‐Arts, Imke Christiaans   +6 more
wiley   +1 more source

Analyzing the impact of prenatal care on infant health: do we have useful input and output measures? [PDF]

Recent work raises questions about the input and output measures typically used to estimate the impact of prenatal care on infant health: self-reported prenatal care may generate biased estimates of the impact of prenatal care on infant health, and ...
Jeanne Wendel, Sankar Mukhopadhyay, Wai Lee, Wei Yang   +3 more
core  

Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard deviations.
Pasquale Di Letto, Alberto Budillon, Sarah Iffat Rahman, Francesca Del Vecchio Blanco, Mariateresa Zanobio, Margherita Scarpato, Margherita Russo, Maria Elena Onore, Giulio Piluso, TUDP Study Group, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Manuela Morleo, Nicola Brunetti Pierri, Giancarlo Parenti, Carmine Spampanato, Giulio Piluso, Michele Pinelli, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Andrea Accogli, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Donatella Milani, Corrado Romano, Pinella Failla, Donatella Greco, Chiara Pantaleoni, Claudia Ciaccio, Stefano D’Arrigo, Antonietta Coppola, Teresa Mattina, Marcella Zollino, Domizia Pasquetti, Federica L. Erario, Albina Tummolo, Claudia Santoro, Anna Grandone, Livia Garavelli, Carla Marini, Stefania Bigoni, Carmelo Piscopo, Antonio Trabacca, Marta De Rinaldis, Vincenzo Nigro, Gioacchino Scarano, Annalaura Torella   +52 more
wiley   +1 more source

Early exposure to flame retardants is prospectively associated with anxiety symptoms in adolescents: A prospective birth cohort study

Depression and Anxiety, Volume 39, Issue 12, Page 780-793, December 2022., 2022
Abstract Background Anxiety disorders emerge during childhood and adolescence and are frequently preceded by subsyndromal anxiety symptoms. Environmental toxicants, including gestational polybrominated diphenyl ether (PBDE) exposure, are associated with neuropsychiatric sequelae; however, the role of PBDEs as risk factors for anxiety in adolescence is ...
Jeffrey R. Strawn, Yingying Xu, Kim M. Cecil, Jane Khoury, Mekibib Altaye, Joseph M. Braun, Bruce P. Lanphear, Andreas Sjodin, Aimin Chen, Kimberly Yolton   +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

A systematic overview of the literature regarding group prenatal care for high-risk pregnant women

BMC Pregnancy and Childbirth, 2017
BackgroundGroup prenatal care (GPC) models have been gaining popularity in recent years. Studies of high-risk groups have shown improved outcomes. Our objective was to review and summarize outcomes for women in GPC for women with specific high-risk ...
Brittany Byerley, D. Haas
semanticscholar   +1 more source

Medicaid Managed Care and Infant Health: A National Evaluation [PDF]

In this study, we examine the effects of Medicaid managed care (MMC) on prenatal care utilization and infant health. We obtain separate estimates of the effect of primary care case management (PCCM) managed care programs and HMO managed care plans on ...
Genevieve Kenney, Lisa Dubay, Robert Kaestner   +2 more
core  

TESTING PATTERNS FOR SYPHILIS AND OTHER SEXUALLY TRANSMITTED INFECTIONS IN PREGNANT WOMEN PRESENTING TO EMERGENCY DEPARTMENTS [PDF]

, 2019
Following an initial decrease in the incidence of congenital syphilis from 2008-2012, the rate of congenital syphilis rose by 38% across the United States between 2012-2014 (2).
SHOYOMBO, IFEOLUWA
core   +1 more source

Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in ...
Ethan M. Scott, Olivia K. Wenger, Matthew Adams, Emma L. Baple, Andew Crosby, Joseph Leslie   +5 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