Results 131 to 140 of about 58,343 (309)

Relative mtDNA copy number in embryo spent culture medium is not a reliable biomarker of human embryo aneuploidy

open access: yesReproduction and Fertility
Mitochondrial DNA (mtDNA) from embryonic cells is released into the spent culture medium (SCM) during cellular processes, providing a potential biomarker of embryo health.
Sasipat Teerawongsuwan   +9 more
doaj   +1 more source

Fetal chromosome analysis: screening for chromosome disease?

open access: yes, 1983
Udgivelsesdato: 1983-JulThe aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocentesis performed, this group constituting a consecutive sample at the chromosome laboratory,
Bang, J   +3 more
core  

Sex Chromosome Abnormalities in the Male

open access: yes, 2013
This article does not set out to give a comprehensive review of sex chromosome abnormalities in Man, nor even in phenotypic males. Its purpose is more to outline a few general principles and show how they apply to one group of individuals with one class ...
Jacobs, Patricia A.
core   +2 more sources

Molecular and Cellular Hallmarks of Age‐Related Vestibular Hair Cell Degeneration

open access: yesAdvanced Science, EarlyView.
This study utilizes single‐cell RNA‐seq transcriptomes, advanced imaging, and electrophysiology to examine universal and cell‐type‐specific aging signatures of vestibular hair cells. The study shows that impaired hair bundle function is a key driver of age‐related vestibular dysfunction.
Samadhi Kulasooriya   +10 more
wiley   +1 more source

CHROMOSOME TESTING IN CHILDREN WITH DEVELOPMENTAL DELAY IN WHOM THE ETIOLOGY IS NOT EVIDENT CLINICALLY

open access: yes, 1993
A review was carried out to establish the value of chromosome testing in children with significant developmental delay, where the aetiology was not evident clinically. During 1990, 315 children had been assessed at a child development clinic and found to
SELIKOWITZ, M, GRAHAM, SM
core   +1 more source

Gene Correction Enhances Dopaminergic Cell Therapy in a Nonhuman Primate Model of Parkinson's Disease

open access: yesAdvanced Science, EarlyView.
LRRK2‐mutant induced pluripotent stem cells (iPSCs) were derived from a patient with Parkinson's disease (PD). Using CRISPR/Cas9–mediated gene editing, the pathogenic LRRK2 mutations were precisely corrected, and isogenic dopaminergic neural progenitor cells (DA‐NPCs) were subsequently generated.
Qing Yan   +29 more
wiley   +1 more source

Chromosomal abnormalities and « hypoprolificacy » [PDF]

open access: yesAnnales de Zootechnie, 1988
Popescu, P., Legault, C.
openaire   +2 more sources

Supporting families of children with rare and unique chromosome disorders

open access: yes, 2017
The aim of this research was to investigate the experiences of families whose child was diagnosed with a rare, and apparently unique, chromosome disorder.
Gilmore, Linda, Linda Gilmore
core   +1 more source

Therapeutic Outcomes in VEXAS Syndrome: A Multicenter Comparative Cohort of Allogeneic Hematopoietic Stem Cell Transplantation and Hypomethylating Agents

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Hypomethylating agents (HMA) and allogeneic hematopoietic stem cell transplantation (alloHSCT) have both demonstrated remissions in VEXAS; however, comparative data is lacking. We conducted a multicenter, retrospective analysis of 66 patients diagnosed with VEXAS syndrome treated with HMA (n = 35) or alloHSCT (n = 31). Baseline characteristics
Saubia Fathima   +48 more
wiley   +1 more source

Myelodysplastic Syndromes: 2026 Update on Diagnosis, Risk‐Stratification and Management

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Disease Overview The myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid disorders characterized by peripheral blood cytopenias and increased risk of transformation to acute myelogenous leukemia (AML). MDS occurs more frequently in older males and in individuals with prior exposure to cytotoxic therapy.
Guillermo Garcia‐Manero
wiley   +1 more source

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