Results 141 to 150 of about 3,157,112 (307)

Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown, Matthew Bower, Matthew Schomaker, Jessica Goldstein, Jeanine Jarnes, Chester B. Whitley, Nishitha R. Pillai   +6 more
wiley   +1 more source

Association of maternal autoimmune disease and early childhood infections with offspring autism spectrum disorder: A population‐based cohort study

Autism Research, Volume 15, Issue 12, Page 2371-2380, December 2022., 2022
Abstract The aim of this study was to examine potential synergistic effects between maternal autoimmune disease and early childhood infections and their association with autism spectrum disorder (ASD) in offspring. Both exposures have been associated with increased risk of ASD in previous studies, but potential synergistic effects remain underexplored.
Timothy C. Nielsen, Natasha Nassar, Antonia W. Shand, Hannah F. Jones, Velda X. Han, Shrujna Patel, Adam J. Guastella, Russell C. Dale, Samantha J. Lain   +8 more
wiley   +1 more source

The Advantage is at the Ladies: Brain Size Bias-Compensated Graph-Theoretical Parameters are Also Better in Women's Connectomes [PDF]

arXiv, 2015
In our previous study we have shown that the female connectomes have significantly better, deep graph-theoretical parameters, related to superior "connectivity", than the connectome of the males. Since the average female brain is smaller than the average male brain, one cannot rule out that the significant advantages are due to the size- and not to the
arxiv  

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

Resilience, and positive parenting in parents of children with syndromic autism and intellectual disability. Evidence from the impact of the COVID‐19 pandemic on family's quality of life and parent–child relationships

Autism Research, Volume 15, Issue 12, Page 2381-2398, December 2022., 2022
Abstract Family quality of life (FQoL) outcomes collected during the first year of COVID‐19 has been combined with 2018 data to estimate the outbreak's impact on parental outcomes on a sample of 230 families with syndromic autistic children and those with intellectual disabilities (IDs).
Corneliu Bolbocean, Kayla B. Rhidenour, Maria McCormack, Bernhard Suter, Jimmy Lloyd Holder   +4 more
wiley   +1 more source

Inducing Mimicry Through Auditory Icons [PDF]

arXiv, 2019
This study aims to find out if periodic auditory icon loop and non-periodic auditory icon loop can induce mimicry in humans. Auditory icons are snippet of everyday sounds used to represent information or processes. A within-subject, Oz-of-Wizard experiment was conducted among forty participants.
arxiv  

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Female sexual function in bladder cancer: A review of the evidence

BJUI Compass, Volume 4, Issue 1, Page 5-23, January 2023., 2023
Abstract Background Bladder cancer (BC) treatments are known to be invasive; nevertheless, research into the long‐term effects is limited and in the context of sexual function often male focussed. Female sexual dysfunction (FSD) has been reported in up to 75% of female patients.
Rebecca Martin, Tessa Renouf, Jeannie Rigby, Shaista Hafeez, Ramesh Thurairaja, Pardeep Kumar, Susanne Cruickshank, Mieke Van‐Hemelrijck   +7 more
wiley   +1 more source

Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT No validated oral health‐related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabilities and who communicate non‐verbally. This qualitative study aimed to explore the domains that were important to the oral health‐related quality of life in individuals with Rett syndrome (RTT).
Yvonne Yee Lok Lai, Jenny Anne Downs, Helen Margaret Leonard, Laurence James Walsh, Sobia Zafar   +4 more
wiley   +1 more source

Bayesian inference in Y-linked two-sex branching processes with mutations: ABC approach [PDF]

arXiv, 2018
A Y-linked two-sex branching process with mutations and blind choice of males is a suitable model for analyzing the evolution of the number of carriers of an allele and its mutations of a Y-linked gene. Considering a two-sex monogamous population, in this model each female chooses her partner from among the male population without caring about his type
arxiv