Results 21 to 30 of about 128,358 (156)

Exposure to Gestational Intermittent Hypoxia Does Not Impair the Metabolic Function or Accelerate the Biological Ageing Process of Offspring of Either Sex

open access: yesJournal of Sleep Research, EarlyView.
ABSTRACT Obstructive sleep apnea (OSA), marked by intermittent hypoxia, is associated with obesity, type 2 diabetes and metabolic associated fatty liver disease. In pregnancy, it remains underdiagnosed despite links to gestational diabetes, hypertension, and foetal growth restriction.
Esther Valverde‐Perez   +6 more
wiley   +1 more source

Characterization of a rare analphoid supernumerary marker chromosome in mosaic [PDF]

open access: yes, 2015
publicado em: Chromosome Research. 2015;23(Suppl 1):67-8. doi:10.1007/s10577-015-9476-6Analphoid supernumerary marker chromosomes (SMCs) are a rare subclass of SMCs C-band-negative and devoid of alpha-satellite DNA.
Alves, C.   +6 more
core  

Molecular diagnosis and typing of Trypanosoma cruzi populations and lineages in cerebral Chagas disease in a patient with AIDS [PDF]

open access: yes, 2005
Trypanosoma cruzi DNA was amplified from an intracranial biopsy and peripheral blood of an HIV patient with encephalitis; this episode was indicative of AIDS and congenital Chagas disease.
Altcheh, Jaime Marcelo   +15 more
core   +1 more source

Bioconversion of carotenoids into high‐value crocins using a marine sponge carotenoid cleavage dioxygenase

open access: yesNew Phytologist, Volume 250, Issue 5, Page 3230-3246, June 2026.
Summary Carotenoids and apocarotenoids are widespread specialized metabolites, yet animals, including sponges, lack the ability to synthesize carotenoids de novo and must obtain them from dietary or microbial sources. The roles of carotenoid cleavage dioxygenases (CCDs) in marine animals remain largely unexplored. A CCD from the marine sponge Suberites
Elena Moreno‐Giménez   +11 more
wiley   +1 more source

Fragile X syndrome. [PDF]

open access: yes, 2014
Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter
Ayala-Zapata, Sebastián   +5 more
core   +1 more source

Use of the Internet to report congenital malformations on birth certificates at four public maternity hospitals in the city of São Paulo, Brazil [PDF]

open access: yes, 2010
The aim of this study was to improve the completion of item 34 on birth certificates at four maternity hospitals in the city of São Paulo, Brazil, in the year 2008.
Brunoni, Decio   +3 more
core   +2 more sources

A Super‐Pangenome for Cultivated Citrus Reveals Evolutive Features During the Allopatric Phase of Their Reticulate Evolution

open access: yesPlant Biotechnology Journal, Volume 24, Issue 5, Page 3345-3367, May 2026.
Structure of the cultivated citrus super‐pangenome. ABSTRACT The main genetic diversity observed in cultivated citrus results from a reticulate evolution involving four ancestral taxa whose radiation occurred in allopatry. In such context, GWAS analysis, genome diversity and transcriptomic studies will be significantly enhanced through pangenome ...
Gaetan Droc   +27 more
wiley   +1 more source

Resultados de seis años de estudios citogenéticos en líquido amniótico

open access: yesRevista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2015
Fundamento: la pesquisa de diversas enfermedades genéticas es uno de los programas preventivos con actual importancia a nivel de la salud pública. La detección precoz de cromosomopatías y la toma de conducta oportuna disminuyen la morbimortalidad y ...
Enelis Reyes Reyes   +4 more
doaj  

Linajes de Trypanosoma cruzi en pacientes con enfermedad de Chagas y coinfección por VIH [PDF]

open access: yes, 2009
Introducción. Las poblaciones naturales de T. cruzi han sido clasificadas en seis linajes filogenéticos o unidades de tipificación discreta: T. cruzi I, IIa, IIb, IIc, IId y IIe, que pueden jugar un rol en el tropismo tisular y patogénesis de la ...
Altcheh, Jaime Marcelo   +11 more
core  

Exclusion of CLIC5 as a Candidate Gene and Identification of NEFM as a Possible Novel Gene Correlated With Autosomal Recessive Pure Cerebellar Ataxia in a Highly Consanguineous Family

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
Whole‐exome sequencing candidate CLIC5 and NEFM for cerebellar ataxia (CA) onset. In vivo studies exclude CLIC5, while in silico analysis and literature review support NEFM as a candidate gene for CA. These findings could be useful for advancing the genetic diagnosis of hereditary pure CA. Created in https://BioRender.com.
Paolo Enrico Maltese   +14 more
wiley   +1 more source

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