Results 221 to 230 of about 2,581,325 (340)

Prognostic impact of somatic mutations and additional chromosomal abnormalities in patients with myelodysplastic syndromes and chromosome 20q deletion. [PDF]

Clin Exp Med
Huang X, Li X, Liu Q, Guo J, Chen J, Zhou L, Song L, Zhang Z, Su J, Zhang Y, Yan M, He Q, Wu D, Xu F, Chang C, Wu L.   +15 more
europepmc   +1 more source

Chromosomal abnormalities in men with pregestational and gestational infertility in northeast China

Journal of Assisted Reproduction and Genetics, 2012
Dingyang Li, Hongguo Zhang, Ruixue Wang, Haibo Zhu, Linlin Li, Ruizhi Liu   +5 more
semanticscholar   +1 more source

Single‐Cell RNA Sequencing Informs Precision Targeting of Monogenic Lupus Associated With IKZF1 Haploinsufficiency

Arthritis &Rheumatology, EarlyView.
Objective This study aimed to investigate the mechanisms of immune dysregulation in a pediatric patient with monogenic lupus driven by IKZF1 haploinsufficiency. Methods Peripheral immune cells from a patient with IKZF1 haploinsufficiency, patients with lupus with no currently known genetic mutations, and healthy controls were analyzed using single‐cell
Qi Zheng, Yejun Tan, Zhaoling Wang, Yanjie Qian, Qian Ma, Danping Shen, Meiping Lu   +6 more
wiley   +1 more source

Preimplantation development analysis of aneuploid embryos with different chromosomal abnormalities. [PDF]

Heliyon
Si K, Ma B, Bai J, Wu L, He H, Jin L, Huang B.   +6 more
europepmc   +1 more source

The 3‐Hit Metabolic Signaling Model for Autism Spectrum Disorder: A Summary

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a highly heritable yet environmentally sensitive neurodevelopmental condition whose biological heterogeneity has resisted a unifying causal explanation for over 100 years. The 3‐hit metabolic signaling model proposes that ASD arises from abnormal persistence of an evolutionarily conserved stress‐response ...
Robert K. Naviaux
wiley   +1 more source

Prevalence and diagnostic dilemma of chromosomal abnormalities in the Niger Delta area of Nigeria; Is prenatal diagnosis worthwhile? [PDF]

Niger Med J
Abbey M, West BA, Amadi SC, Oloyede OA, Horsfall F, Nonye-Enyidah EI, Okagua KE, Kwosah NJ, Kua PL, Iwo-Amah RS, Ocheche US, Ononuju CN, Briggs NN, Altraide BO, Sapira-Ordu L, Inimgba N.   +15 more
europepmc   +1 more source

Characteristics of chromosomal abnormalities diagnosed after spontaneous abortions in an infertile population

Journal of Assisted Reproduction and Genetics, 2012
M. Werner, A. Reh, Jamie A. Grifo, M. Perle   +3 more
semanticscholar   +1 more source

The evolving therapeutic landscape of spinal muscular atrophy – A scoping review of investigational agents, emerging delivery technologies and strategic innovations

British Journal of Clinical Pharmacology, EarlyView.
Spinal muscular atrophy (SMA) is a severe neuromuscular disease with emerging therapeutic complexity. This review aims to systematically map the global pipeline of investigational treatments for SMA. Using ClinicalTrials.gov and complementary international registries, we identified 21 planned or ongoing interventional trials from 2020 to 2025 targeting
Andrej Belančić, Patrick Eustaquio, Elvira Meni Maria Gkrinia, Ivana Stević, Eugen Javor, Yun Wah Lam, Slobodan Janković, Dinko Vitezić   +7 more
wiley   +1 more source

HMGA2 overexpression with specific chromosomal abnormalities predominate in CALR and ASXL1 mutated myelofibrosis. [PDF]

Leukemia
Handa S, Schaniel C, Tripodi J, Ahire D, Mia MB, Klingborg S, Tremblay D, Marcellino BK, Hoffman R, Najfeld V.   +9 more
europepmc   +1 more source

Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood.

Clinical Chemistry, 2011
A. Sehnert, B. Rhees, D. Comstock, E. de Feo, G. Heilek, John P. Burke, R. Rava   +6 more
semanticscholar   +1 more source