Results 51 to 60 of about 5,274 (157)

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

Caryologia
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, Denise Corrêa Benzaquem, Paloma de Sousa Passos, Evellyn Karine Cruz da Silva, Natália Dayane Moura Carvalho, Daria Barroso Serrão das Neves, Paula Rita Leite da Silva, Cleiton Fantin   +7 more
doaj   +1 more source

Incidental Findings Identified by Prenatal Microarray Analysis and Consensus Reporting Criteria of the Catalan Public Health Network XIGENICS

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, Neus Castells‐Sarret, Adela Cisneros, Laura Foj, Clara Benavent‐Bofill, Mar Xunclà, Marina Viñas‐Jornet, Andrea Ros, Natalia Rey, Ignacio Blanco, Ricard López‐Ortega, María Obón, Alberto Plaja   +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, Giovanni Micheloni, Antonio Musio, Marika Bini Antunes, José Barbot, Emília Costa, Patricia Seabra, Rossana Righi, Francesco Orsini, Giuseppe Montalbano, Francesco Acquati, Giovanni Porta, Francesco Pasquali, Roberto Valli   +13 more
wiley   +1 more source

Evaluación Citogenética del Caballo Criollo Colombiano [PDF]

, 2012
Teniendo en cuenta la importancia del Caballo Criollo Colombiano, tanto a nivel nacional como internacional y con el fin de aportar a una completa caracterización citogenética de este, se realizó una evaluación cromosómica mediante diferentes técnicas de
Naranjo Elorza, Silvia Elena
core  

Contribuições da citogenética ao melhoramento de plantas. [PDF]

, 2005
RESUMO - A combinação da citologia envolvendo o estudo dos cromossomos e outros componentes celulares, com a genética ou estudo da herança, faz da citogenética uma ferramenta poderosa para explicar fenômenos hereditários de difícil explicação por outros ...
JANK, L., VALLE, C. B. do, SIMEÃO, R. M., PAGLIARINI, M. S.   +3 more
core  

Citogenética e raça: um estudo em índios Kaingáng do Paraná

, 1988
Citogenética e raça: um estudo em índios Kaingáng do ...
Junior, Euclides Fontoura da Silva, Cavalli, Iglenir João, Ribeiro, Lúcia Regina, Sbalqueiro, Ives José, Muniz, Elza Costa Netto, Maia, Neria Amorim   +5 more
core   +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, Susanna Esteba‐Castillo, Aida Jiménez‐Xifra, Berta Alemany, Núria Ribas‐Vidal, Maria Cutillas, Mònica Coll, Mel·lina Pinsach, Sara Pagans, Mireia Alcalde, Marina Viñas‐Jornet, Mercedes Montero‐Vale, Marta de Castro‐Miró, Jairo Rodríguez, Lluís Armengol, Xavier Queralt, María Obón   +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, Balbina Vázquez-Benítez, Patricia Martínez-Almeraya, Pedro Mercado-Ruaro   +3 more
doaj   +1 more source

Genética Molecular e Citogenética [PDF]

, 2018
XXXII Congresso Brasileiro de Zoologia, Foz do Iguaçu, 2018. Tema: Desafios e perspectivas para a Zoologia na América LatinaCaderno de Resumos de Trabalhos da Área temática Genética Molecular e Citogenética, do XXXII Congresso Brasileiro de ...

core  

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

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, Pablo Bolaños‐Villegas   +1 more
wiley   +1 more source