Results 41 to 50 of about 1,606 (112)

A Distinctive Type of Mosaic Variegated Aneuploidy: Case Report and Review of the Literature

open access: yesAmerican 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

Cytogenetics of Pennisetum purpureum Schumack x Pennisetum glaucum L. hybrids and their parents Citogenética de híbridos entre Pennisetum purpureum Schumack E Pennisetum glaucum L. e seus genitores

open access: yesCiência e Agrotecnologia, 2003
Cytogenetic studies were carried out on five accesses of interspecific hybrids of Pennisetum purpureum and Pennisetum glaucum and their parentals, which are part of the Forage Germplasm Bank of the "Centro Nacional de Pesquisa de Gado de Leite" of ...
Sandro Barbosa   +2 more
doaj   +1 more source

Abstract Book for the 27th Congress of the European Hematology Association

open access: yes, 2022
HemaSphere, Volume 6, Issue S3, Page 1-4130, June 2022.
wiley   +1 more source

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11

open access: yesMolecular 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

Cytogenetic diagnosis of patients with suspected premature ovarian failure in Manaus, Brazil

open access: yesCaryologia
Premature ovarian failure (POF) is a clinical syndrome that is characterized by loss of ovarian function in women of childbearing age and generally occurs before the age of 40. Genetic causes account for about 20 to 25% of cases of POF.
Ruan Barboza Rocha   +7 more
doaj   +1 more source

Sole trisomy 6 an uncommon finding in pediatric acute myeloid leukemia, probably associated to bad prognosis

open access: yesMolecular 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

Plant reproduction research in Latin America: Toward sustainable agriculture in a changing environment

open access: yesPlant-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

How diverse a monocentric chromosome can be? Repeatome and centromeric organization of Juncus effusus (Juncaceae)

open access: yesThe 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

Estudios cromosómicos en seis especies mexicanas de comelináceas

open access: yesBotan‪ical 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

Genome relationships and LTR-retrotransposon diversity in three cultivated Capsicum L. (Solanaceae) species

open access: yesBMC Genomics, 2020
Background Plant genomes are rich in repetitive sequences, and transposable elements (TEs) are the most accumulated of them. This mobile fraction can be distinguished as Class I (retrotransposons) and Class II (transposons).
Rafael de Assis   +5 more
doaj   +1 more source

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