Results 51 to 60 of about 1,635 (114)
Prenatal Diagnosis, Volume 45, Issue 3, Page 326-347, March 2025.ABSTRACT Objective The study aimed to evaluate the frequency of pathogenic copy number variants (CNVs) classified as incidental findings (IFs) in prenatal diagnosis and to develop consensus recommendations for standardizing their reporting across six centers within the Catalan public health system (XIGENICS network).
Irene Mademont‐Soler +12 more
wiley +1 more source
A Distinctive Type of Mosaic Variegated Aneuploidy: Case Report and Review of the Literature
American Journal of Medical Genetics Part A, Volume 197, Issue 2, February 2025.ABSTRACT Mosaic variegated aneuploidy (MVA) is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies, and most patients present with intrauterine growth delay, microcephaly, and a broad spectrum of congenital ...
Annalisa Frattini +13 more
wiley +1 more source
Unexpected complexity in the molecular diagnosis of spastic paraplegia 11
Molecular Genetics &Genomic Medicine, Volume 12, Issue 6, June 2024.Graphical abstract of a case with Spastic Paraplegia 11, including the family pedigree with the variants identified in the SPG11 gene and a representation of the patient's spliced transcripts according to transcriptome data. Abstract Background Spastic paraplegia 11 (SPG11) is the most prevalent form of autosomal recessive hereditary spastic paraplegia,
Irene Mademont‐Soler +16 more
wiley +1 more source
Estudios cromosómicos en seis especies mexicanas de comelináceas
Botanical Sciences, 1990 Se determinaron los números cromosómicos (2n) y se elaboraron los cariotipos de Tradescantia crassifolia Cav. subsp. acaulis (Martens y Galeotti) D. Hunt, Gibasis shiedeana (Kunth) D. Hunt, Cymbispatha commelinoides (Shult.
Guadalupe Palomino-Hasbach +3 more
doaj +1 more source
Plant-Environment Interactions, Volume 5, Issue 3, June 2024.The sustainability of Latin American agriculture in the face of climate change may depend on advances on plant reproduction research performed by local groups. Abstract Food production and food security depend on the ability of crops to cope with anthropogenic climate change and successfully produce seed.
Arnaud Ronceret +1 more
wiley +1 more source
Anales de la Facultad de Medicina, 2017 El Laboratorio de Citogenética de Facultad de Medicina procesa en promedio 300 muestras anuales de centros asistenciales públicos y privados por citogenética convencional, siendo imprescindible implementar nuevas técnicas con el fin de mejorar la calidad
Andrea Cairus +5 more
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Molecular Cytogenetics, 2020 Background Acute leukemias represent the main malignancies occurring among children under the age of 15 years. Around 17% corresponds to acute myeloid leukemia (AML).
Sinhue Alejandro Brukman-Jimenez +9 more
doaj +1 more source
The Plant Journal, Volume 118, Issue 6, Page 1832-1847, June 2024.Significance Statement Recent studies have challenged the holocentric organization of Juncus centromeres, with several species now demonstrated to be monocentric. However, the annotation of all Juncus effusus centromeres revealed a distinctive centromeric organization, with eventually multiple CENH3 domains along the centromere associated with less ...
Yhanndra Dias +7 more
wiley +1 more source
Estudio Estructural del Huso Meiótico de Ovocitos Bovinos Vitrificados
Revista Científica, 2009 La vitrificación de ovocitos bovinos se ha venido utilizando como uno de los protocolos de criopreservación más prometedores. Se ha expresado el temor por los efectos que puede causar la utilización de aditivos crioprotectores sobre la integridad ...
Francisco Báez Contreras +2 more
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