Results 71 to 80 of about 270,506 (297)

Prenatal Vitamin D Supplementation and Child Respiratory Health: A Randomised Controlled Trial [PDF]

, 2013
PMCID: PMC3691177This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are ...
A Merewood, AA Litonjua, Adrian R. Martineau, AE Millen, B Novakovic, BW Hollis, CA Camargo Jr, CA Camargo Jr, Chris J. Griffiths, Christina Yu, CK Yu, CR Gale, D Bikle, DD Johnson, DR Murdoch, E Cremers, E Hypponen, F Groenman, FD Martinez, G Devereux, GR Zosky, Heinz Fehrenbach, Jane C. Kirkby, Janet Stocks, John O. Warner, M Erkkola, MF Holick, MJ Ege, N Beydon, Richard Hooper, Robert J. Boyle, Seif O. Shaheen, SH Pearce, Sheree Poulton, Stephen Robinson, Stephen T. Goldring, SW Turner, X Liu, Y Miyake   +38 more
core   +4 more sources

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone, Swetha Ramadesikan, Regan McGinley, Scott E. Hickey, Leeran B. Dublin‐Ryan, Steven I. Estes, Victoria A. Elliott, Benjamin Karabasz, Jesse M. Hunter, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +11 more
wiley   +1 more source

Parental Substance Abuse As an Early Traumatic Event. Preliminary Findings on Neuropsychological and Personality Functioning in Young Drug Addicts Exposed to Drugs Early. [PDF]

, 2016
open5noParental substance use is a major risk factor for child development, heightening the risk of drug problems in adolescence and young adulthood, and exposing offspring to several types of traumatic events.
Afifi, Aharonovich, Alati, Alati, American Psychiatric Association (APA), American Psychiatric Association (APA), Anda, Bada, Baer, Bailey, Baker, Barnard, Barr, Behnke, Bennett, Best, Bhide, Blagov, Blair, Bornovalova, Brand, Brown, Carmody, Chambers, Chapman, Chassin, Chassin, Chen, Cone, Connor, Cooper, Crean, Cruz, Cyr, Daniel, Day, Day, De Palo, Delaney-Black, Dennis, Derogatis, Derogatis, Dikmen, Edwards, Eiden, Eiden, Eiden, Eiden, El-Sheikh, El-Sheikh, Elkins, Engeland, Enoch, Ersche, European Monitoring Centre for Drugs Drug Addiction (EMCDDA), Evans, Eyler, Fals-Stewart, Farah, Farah, Fishbein, Fisher, Fisher, Ford, Frank, Fried, Giancola, Gibb, Glantz, Goldman, Goldschmidt, Goler, Grant, Griffith, Guttmacher Institute, Hackman, Hans, Hanson, Henry, Hicks, Hinrichs, Hurt, Hurt, Hussong, Hussong, Hussong, Jacobson, Jernigan, Johnston, Jutras-Aswad, Kearney, Kerns, Killinger, Kliewer, Klonoff-Cohen, Kodituwakku, Kokkevi, Konijnenberg, Kopera-Frye, Krueger, Langås, Leech, Lester, Lester, Lewis, Lewis, Li, Lingiardi, Lipina, Mackesy-Amiti, Malone, Marin-Avellan, Mattson, Maurage, May, Mayes, Mayes, McClelland, McGue, McNamee, Melchior, Meyers, Mezzacappa, Minnes, Moilanen, Mondini, Mondini, Morgan, Nigg, Noble, Noble, Noland, Noland, O'Brien, O'Connor, Obot, Olson, Olson, Pears, Posner, Prunas, Putnam, Rao, Rasmussen, Rasmussen, Richardson, Richardson, Riley, Rose-Jacobs, Rose-Jacobs, Rosenkranz, Rubes, Samhsa Office of Applied Studies (SAMHSA), Sarno, Savage, Schmid, Shedler, Shedler, Sheinkopf, Singer, Singer, Smith, Solowij, Stocco, Stone, Strathearn, Tapert, Tapert, Taplin, Tarter, Tarter, Thompson, Tonmyr, van der Kolk, Van Voorst, Vaske, Velez, Verdejo-García, Warner, Warner, Westen, Westen, Westen, Westen, Willford, Willford, Woon, Young   +187 more
core   +2 more sources

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

P622: NIPS dilemma in the context of consanguinity: Considerations for counseling

Genetics in Medicine Open, 2023
Noura Osman, Kathryn Rice, Herman Hedriana, Krishna Singh   +3 more
doaj   +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

Fetal sex discordance

Taiwanese Journal of Obstetrics & Gynecology, 2020
Fetal sex discordance is an entity that is becoming more frequent due to the expansion of the cfDNA for prenatal diagnosis. Its incidence can be estimated in 1/1500–2000 pregnancies, a frequency as high as that of some common chromosomopathies.
Álvaro López Soto, Mar Bueno González, Isabel Urbano Reyes, Jose Luis Meseguer González, M Ángeles Jódar Pérez, Olivia García Izquierdo   +5 more
doaj   +1 more source

Analysis of Down syndrome failed to be diagnosed after prenatal screening: A multicenter study. [PDF]

, 2017
To analyze the characters of Down syndrome (DS) who failed to be diagnosed after prenatal screening and hope to be able to improve the programs of prenatal screening and reduce the missed diagnosis of DS.
Ding, Jie, Jiang, Tao, Wang, Ting, Yu, Bin, Zhang, Bin, Zhang, Xiao-Juan, Zhang, Xiao-Qing   +6 more
core   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Early-Life Air Pollution Exposure, Neighborhood Poverty, and Childhood Asthma in the United States, 1990⁻2014. [PDF]

, 2018
Ambient air pollution is a well-known risk factor of various asthma-related outcomes, however, past research has often focused on acute exacerbations rather than asthma development.
Crowder, Kyle, Hajat, Anjum, Kravitz-Wirtz, Nicole, Takeuchi, David, Teixeira, Samantha, Woo, Bongki   +5 more
core   +3 more sources