Results 141 to 150 of about 1,109,166 (346)

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

Genetics in Medicine, 2016
Purpose:We aimed to identify the genetic cause in a cohort of 11 unrelated cases and two sisters with 46,XX SRY-negative (ovo)testicular disorders of sex development (DSD).Methods:Whole-exome sequencing (n = 9), targeted resequencing (n = 4), and ...
D. Baetens, H. Stoop, F. Peelman, Anne-Laure Todeschini, Toon Rosseel, F. Coppieters, R. Veitia, L. Looijenga, E. de Baere, M. Cools   +9 more
semanticscholar   +1 more source

Nationwide Survey of Atopic Myelitis and Plexin D1‐Immunoglobulin G‐Related Pain

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To elucidate the features of plexin D1‐immunoglobulin (Ig)G‐associated neuropathic pain and its relationship to atopic myelitis (AM) in a nationwide Japanese survey. Methods A preliminary survey questionnaire was sent to 1574 selected departments (neurology and pediatrics/pediatric neurology) to explore the numbers of AM and plexin ...
Jun‐ichi Kira, Xu Zhang, Takayuki Fujii, Mikio Mitsuishi, Miho Ushijima, Sato Yoshidomi, Ayako Sakoda, Tomohiro Imamura, Satoshi Kuwabara, Noriko Isobe, Yuri Nakamura   +10 more
wiley   +1 more source

Amygdala reactivity predicts adolescent antisocial behavior but not callous-unemotional traits. [PDF]

, 2017
Recent neuroimaging studies have suggested divergent relationships between antisocial behavior (AB) and callous-unemotional (CU) traits and amygdala reactivity to fearful and angry facial expressions in adolescents.
Dotterer, Hailey L, Hariri, Ahmad R, Hyde, Luke W, Swartz, Johnna R, Williamson, Douglas E   +4 more
core   +2 more sources

Disorders of sex development: a study of 194 cases

Endocrine Connections, 2018
Objective To study the clinical profile and the management of patients with disorders of sex development (DSD). Design and setting Retrospective study from a tertiary care hospital of North India.
R. Walia, M. Singla, Kim Vaiphei, Santosh Kumar, Anil Bhansali   +4 more
semanticscholar   +1 more source

Higher Amyloid and Tau Burden Is Associated With Faster Decline on a Digital Cognitive Test

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective A 2‐min digital clock‐drawing test (DCTclock) captures more granular features of the clock‐drawing process than the pencil‐and‐paper clock‐drawing test, revealing more subtle deficits at the preclinical stage of Alzheimer's disease (AD). A previous cross‐sectional study demonstrated that worse DCTclock performance was associated with
Jessie Fanglu Fu, Talia Robinson, Marina Rodriguez Alonso, Adela Francis Malave, Roos J. Jutten, Michael J. Properzi, Brian C. Healy, Jackson C. Thompson, Grace Del Carmen Montenegro, Emma Thibault, Dana Penney, Randall Davis, Reisa A. Sperling, Kathryn V. Papp, Keith A. Johnson, Julie C. Price, Dorene M. Rentz   +16 more
wiley   +1 more source

Maternal immune activation and strain specific interactions in the development of autism-like behaviors in mice. [PDF]

, 2013
It is becoming increasingly apparent that the causes of autism spectrum disorders (ASD) are due to both genetic and environmental factors. Animal studies provide important translational models for elucidating specific genetic or environmental factors ...
Ashwood, P, Berman, RF, Careaga, M, Onore, CE, Rushakoff, JA, Schwartzer, JJ   +5 more
core   +2 more sources

Lessons Learned: Quality Analysis of Optical Coherence Tomography in Neuromyelitis Optica

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Optical coherence tomography (OCT)‐derived retina measurements are markers for neuroaxonal visual pathway status. High‐quality OCT scans are essential for reliable measurements, but their acquisition is particularly challenging in eyes with severe visual impairment, as often observed in neuromyelitis optica spectrum disorders ...
Hadi Salih, Sara Samadzadeh, Charlotte Bereuter, Seyedamirhosein Motamedi, Claudia Chien, Pablo Villoslada, Hadas Stiebel‐Kalish, Nasrin Asgari, Yang Mao‐Draayer, Marius Ringelstein, Joachim Havla, Marco Aurélio Lana Peixoto, Ho Jin Kim, Jacqueline Palace, Maria Isabel Leite, Srilakshmi M. Sharma, Fereshteh Ashtari, Rahele Kafieh, Lekha Pandit, Orhan Aktas, Philipp Albrecht, Letizia Leocani, Itay Lotan, Sasitorn Siritho, Jérôme de Seze, Romain Marignier, Caroline Froment Tilikete, Denis Bernardi Bichuetti, Ivan Maynart Tavares, Ayse Altintas, Anu Jacob, Saif Huda, Ibis Soto de Castillo, Lawrence J. Cook, Michael R. Yeaman, Axel Petzold, Alexander U. Brandt, Friedemann Paul, Frederike C. Oertel, Hanna G. Zimmermann, with the Guthy Jackson Charitable Foundation—International Clinical Consortium and CROCTINO Collaborators   +40 more
wiley   +1 more source

STRATEGI COPING ORANGTUA YANG MEMPUNYAI ANAK DENGAN DISORDERS OF SEX DEVELOPMENT KROMOSOM SEKS MOSAIK

Jurnal Psikologi Undip, 2019
This study aims to explore coping strategies used by parents’ of children with mosaic sex chromosome Disorders of Sex Development (DSD). The study applied the sequential explanatory mixed-methods approach that collected quantitative data prior to ...
Iit Fitrianingrum, Annastasia Ediati, Sultana MH Faradz   +2 more
doaj   +1 more source

Long-term Healthcare of People with Disorders of Sex Development: Predictors of Pubertal Outcomes of Partial Androgen Insensitivity Syndrome – Authors' Reply [PDF]

, 2018
Ngee Lek, Rieko Tadokoro‐Cuccaro, Ieuan A. Hughes   +2 more
openalex   +1 more source

Do adults with high functioning autism or Asperger Syndrome differ in empathy and emotion recognition? [PDF]

, 2016
The present study examined whether adults with high functioning autism (HFA) showed greater difficulties in (i) their self-reported ability to empathise with others and/or (ii) their ability to read mental states in others’ eyes than adults with Asperger
A Palmen, A Realo, A Spek, AM Daniels, AM Scheeren, AN Witwer, B Auyeung, C Allison, C Lord, C Lord, Carrie Allison, CE Wilson, Charlotte B. Montgomery, D Premack, DG Amaral, DL Williams, E Sucksmith, EJ Lawrence, FR Volkmar, GM McAlonan, J Cohen, J Mansell, J Paynter, J Treur, JC Raven, JL Barnes, JL Matson, K Gotham, KK Yu, L Pina-Camacho, L Wing, LY Tsai, M Ghaziuddin, M Ghaziuddin, M Mazza, M Serafin, M Vellante, M-C Lai, MC Tobin, Meng-Chuan Lai, MV Lombardo, N Kaland, P Fonagy, P Howlin, P Howlin, P Planche, Peter E. Langdon, R Bedford, RA Fabio, RA Richell, RJ Holt, RL Schalock, RT Schultz, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Cassidy, S Dehning, S Ozonoff, S Ozonoff, S Wheelwright, Sarah Cassidy, Simon Baron-Cohen, SJ Rogers, SR McConnell, TR Goldstein, U Hess, WB Groen, World Health Organization (WHO)   +73 more
core   +2 more sources