Results 11 to 20 of about 4,320,960 (307)

Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.

Physiological Reviews, 2022
Developmental and epileptic encephalopathies are a heterogeneous group of disorders characterized by early-onset, often severe epileptic seizures, EEG abnormalities, on a background of developmental impairment that tends to worsen as a consequence of ...
R. Guerrini, V. Conti, M. Mantegazza, S. Balestrini, A. Galanopoulou, F. Benfenati   +5 more
semanticscholar   +1 more source

Genetic heterogeneity and subtypes of major depression

Molecular Psychiatry, 2021
Major depression (MD) is a heterogeneous disorder; however, the extent to which genetic factors distinguish MD patient subgroups (genetic heterogeneity) remains uncertain. This study sought evidence for genetic heterogeneity in MD.
Thuy-Dung Nguyen, A. Harder, Ying Xiong, K. Kowalec, S. Hägg, N. Cai, R. Kuja-Halkola, C. Dalman, P. Sullivan, Yi Lu   +9 more
semanticscholar   +1 more source

Hereditary spastic paraplegia: Genetic heterogeneity and common pathways.

Experimental Neurology, 2022
Hereditary Spastic Paraplegias (HSPs) are a heterogeneous group of disease, mainly characterized by progressive spasticity and weakness of the lower limbs resulting from distal degeneration of corticospinal tract axons.
Emanuele Panza, A. Meyyazhagan, A. Orlacchio   +2 more
semanticscholar   +1 more source

Identification of 38 novel loci for systemic lupus erythematosus and genetic heterogeneity between ancestral groups

Nature Communications, 2021
Systemic lupus erythematosus (SLE), a worldwide autoimmune disease with high heritability, shows differences in prevalence, severity and age of onset among different ancestral groups.
Yongfei Wang, Y. Zhang, Zhiming Lin, Huoru Zhang, Ting-You Wang, Yujie Cao, D. Morris, Y. Sheng, X. Yin, Shi-long Zhong, Xiaoqiong Gu, Y. Lei, Jing He, Qi Wu, Jiangshan J. Shen, Jing Yang, T. Lam, Jia-Huang Lin, Z. Mai, M. Guo, Yuanjia Tang, Yanhui Chen, Qin Song, B. Ban, C. Mok, Yong Cui, Liangjing Lu, N. Shen, P. Sham, C. Lau, David K. Smith, T. Vyse, Xuejun Zhang, Y. Lau, Wanling Yang   +34 more
semanticscholar   +1 more source

Genetic heterogeneity in corpus callosum agenesis

Frontiers in Genetics, 2022
The corpus callosum is the largest white matter structure connecting the two cerebral hemispheres. Agenesis of the corpus callosum (ACC), complete or partial, is one of the most common cerebral malformations in humans with a reported incidence ranging ...
M. Pânzaru, Setalia Popa, Ancuța Lupu, Cristina Gavrilovici, V. V. Lupu, E. Gorduza   +5 more
semanticscholar   +1 more source

Global Genetic Heterogeneity in Adaptive Traits

bioRxiv, 2021
Understanding the genetic architecture of complex traits is a major objective in biology. The standard approach for doing so is genome-wide association studies (GWAS), which aim to identify genetic polymorphisms responsible for variation in traits of ...
W. A. López-Arboleda, Stephan Reinert, M. Nordborg, A. Korte   +3 more
semanticscholar   +1 more source

Interleukin-10 gene polymorphism in patients with systemic lupus erythematosus and normal individuals of Kasakh population

Научно-практическая ревматология, 2003
An analysis of interleukin-10 (IL-10) gene polymorphism associative link with clinical variability in Kasakhs. 49 pts with systemic lupus erythematosus were included (48 female and I male).
Z E Omarbekova, R L Ivanova, I A Guseva, V A Myakotkin   +3 more
doaj   +1 more source

Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5

Journal of Biochemical and Clinical Genetics, 2020
Background: Genetic disorders are enormously diverse both in terms of genotype and phenotype. Each case requires a careful and cautious investigation. Case Presentation: In this paper, we report two siblings who were admitted to our clinic with various ...
Muhsin Elmas, Umit Can Yildirim, Dilek Cavusoglu, Evrim Gurhan Tahta, Ebru Elmas, Tolga Altug Sen, Aysegul Bukulmez   +6 more
doaj   +1 more source

Intrapatient genomic divergence across multiple primary tumors in young Korean patients [PDF]

Korean Journal of Clinical Oncology
Purpose Multiple primary tumors arising in the same individual pose challenges for precision oncology, particularly in the context of hereditary cancer syndromes such as Lynch syndrome.
Yoon Young Choi
doaj   +1 more source

Current status of accelerated corneal cross-linking

Indian Journal of Ophthalmology, 2013
Corneal cross-linking with riboflavin is a technique to stabilize or reduce corneal ectasia, in diseases such as keratoconus and post-laser-assisted in situ keratomileusis (LASIK) ectasia.
Michael Mrochen
doaj   +1 more source