Results 251 to 260 of about 45,554 (278)

Non‐syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies

Clinical Genetics, 2020
Since the discovery of the FMR1 gene and the clinical and molecular characterization of Fragile X Syndrome in 1991, more than 141 genes have been identified in the X‐chromosome in these 28 years thanks to applying continuously evolving molecular ...
M. Tejada, Nekane Ibarluzea
semanticscholar   +1 more source

Expanding the genetic and clinical spectrum of the NONO‐associated X‐linked intellectual disability syndrome

American Journal of Medical Genetics. Part A, 2019
The NONO gene encodes a nuclear protein involved in RNA metabolism. Hemizygous loss‐of‐function NONO variants have been associated with syndromic intellectual disability and with left ventricular noncompaction (LVNC).
C. Carlston, S. Bleyl, A. Andrews, L. Meyers, Sara Brown, P. Bayrak-Toydemir, J. Bale, L. Botto   +7 more
semanticscholar   +1 more source

The Synaptic and Neuronal Functions of the X‐Linked Intellectual Disability Protein Interleukin‐1 Receptor Accessory Protein Like 1 (IL1RAPL1)

Developmental Neurobiology, 2018
Since the first observation that described a patient with a mutation in IL1RAPL1 gene associated with intellectual disability in 1999, the function of IL1RAPL1 has been extensively studied by a number of laboratories. In this review, we summarize all the
C. Montani, L. Gritti, Stefania Beretta, C. Verpelli, C. Sala   +4 more
semanticscholar   +1 more source

Hemizygous SMARCA1 variants cause X-linked intellectual disability

Journal of Human Genetics
Pathogenic SNF2 related chromatin remodeling ATPase 1 (SMARCA1) variants have been reported in patients with X-linked intellectual disability (XLID) characterized by macrocephaly and variable neurological symptoms. Here, we report two unrelated male patients with XLID due to novel SMARCA1 variants detected by exome sequencing.
Naoto Nishimura, Takeshi Mizuguchi, Keisuke Hamada, Kotaro Yuge, Masamune Sakamoto, Naomi Tsuchida, Yuri Uchiyama, Atsushi Fujita, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Yoriko Watanabe, Hitoshi Osaka, Koh-Ichiro Yoshiura, Kazuhiro Ogata, Naomichi Matsumoto   +15 more
openaire   +2 more sources

Atlas of X-Linked Intellectual Disability Syndromes

2011
Abstract The Atlas of X-Linked Intellectual Disability Syndromes is a comprehensive summary of the clinically distinctive disorders caused by genes on the X chromosome. Each syndrome is defined and information is provided on somatic features, growth and development, neurological signs, cognitive performance, imaging and other laboratory ...
Roger E. Stevenson, Charles E. Schwartz, R. Curtis Rogers   +2 more
openaire   +1 more source

An environmental policy of green intellectual capital: Green innovation strategy for performance sustainability

Business Strategy and the Environment, 2021
Chao-Hung Wang
exaly  

Green intellectual capital and ambidextrous green innovation: The impact on environmental performance

Business Strategy and the Environment, 2023
Kaveh Asiaei, Omid Barani, Mahesh Joshi
exaly  

Top management green commitment and green intellectual capital as enablers of hotel environmental performance: The mediating role of green human resource management

Tourism Management, 2022
Kavitha Haldorai, Woo Gon Kim, Rl Fernando Garcia   +2 more
exaly  

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

Molecular Psychiatry, 2019
S. Frints, Aysegul Ozanturk, G. Rodríguez Criado, U. Grasshoff, B. de Hoon, M. Field, S. Manouvrier-Hanu, Scott E. Hickey, M. Kammoun, K. Gripp, C. Bauer, C. Schroeder, A. Toutain, T. Mihalic Mosher, B. Kelly, P. White, A. Dufke, E. Rentmeester, S. Moon, D. Koboldt, K. V. van Roozendaal, Hao Hu, S. Haas, H. Ropers, Lucinda Murray, E. Haan, M. Shaw, Renée Carroll, K. Friend, J. Liebelt, Lynne Hobson, M. de Rademaeker, J. Geraedts, J. Fryns, J. Vermeesch, M. Raynaud, O. Riess, J. Gribnau, N. Katsanis, K. Devriendt, P. Bauer, J. Gécz, C. Golzio, C. Gontan, V. Kalscheuer   +44 more
semanticscholar   +1 more source

Green intellectual capital and environmental management accounting: Natural resource orchestration in favor of environmental performance

Business Strategy and the Environment, 2022
Kaveh Asiaei, Nick Bontis, Mehdi Yaghoubi   +2 more
exaly