Results 201 to 210 of about 45,554 (278)

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source

Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders. [PDF]

Mol Genet Genomic Med, 2019
Srivastava S, Niranjan T, May MM, Tarpey P, Allen W, Hackett A, Jouk PS, Raymond L, Briault S, Skinner C, Toutain A, Gecz J, Heath W, Stevenson RE, Schwartz CE, Wang T.   +15 more
europepmc   +1 more source

Severe X-linked intellectual disability, Gustavson type [PDF]

, 2020
openaire   +1 more source

Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits.

Human Molecular Genetics, 2012
G. Ramakers, D. Wolfer, G. Rosenberger, Kerstin Kuchenbecker, H. Kreienkamp, J. Prange‐Kiel, G. Rune, K. Richter, K. Langnaese, S. Masneuf, M. Bösl, K. Fischer, H. Krugers, H. Lipp, E. van Galen, K. Kutsche   +15 more
semanticscholar   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

X-linked intellectual disability-seizures-psoriasis syndrome [PDF]

, 2020
openaire   +1 more source

The non‐hydrostatic option of the ECMWF global weather forecast model: Improvements for kilometre‐scale modelling

Quarterly Journal of the Royal Meteorological Society, EarlyView.
This study presents improvements to the non‐hydrostatic version of the European Centre for Medium‐Range Weather Forecasts (ECMWF) Integrated Forecasting System (IFS), enabling stable global simulations at 1.4‐km resolution. A systematic comparison with the hydrostatic version at resolutions from 9 to 1.4 km shows that non‐hydrostatic effects emerge in ...
Jozef Vivoda, Inna Polichtchouk, Michail Diamantakis, Filip Váňa   +3 more
wiley   +1 more source

Clinical practice guidelines for the diagnosis and treatment of osteoporosis secondary to ankylosing spondylitis

Rheumatology &Autoimmunity, EarlyView.
Ankylosing spondylitis (AS) is a chronic inflammatory disease that primarily affects the axial skeleton and is often associated with secondary osteoporosis. Currently, there are no established international consensus or guidelines for managing AS‐related osteoporosis (AS‐OP). This guideline was jointly developed by several Chinese academic institutions,
Yasong Li, Liang Wang, Hongzhi Wang, Han Wang, Huaxiang Wu, Qifeng Ying, Dongbao Zhao, Lan He, Xuewu Zhang, Jian Zhu, Sanzhong Xu, Yi Yuan, Dun Hong, Peijian Tong, Ping Huang, Zhenchun Zhang, Hongwei Du, Yizhong Li, Xiaochun Zhu, Lijuan Wang, Zhangxuan Shou, Hao Zhang, Feng Huang, Weidong Xu   +23 more
wiley   +1 more source

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability. [PDF]

Front Genet, 2019
Sanchis-Juan A, Bitsara C, Low KY, Carss KJ, French CE, Spasic-Boskovic O, Jarvis J, Field M, Raymond FL, Grozeva D.   +9 more
europepmc   +1 more source

X-linked intellectual disability-retinitis pigmentosa syndrome [PDF]

, 2020
openaire   +1 more source