Results 51 to 60 of about 5,797 (152)

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

Citogenética & Cariotipagem Humana [PDF]

, 2013
RESUMO O termo Citogenética refere-se a todo e qualquer estudo relativo ao cromossomo isolado ou em conjunto, condensado ou distendido, tanto no que diz respeito a sua morfologia, organização, função e replicação quanto à sua variação e evolução ...
CHAVES, TIAGO FERNANDO, NICOLAU, LEANDRO SIDINEI   +1 more
core  

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

Introdução à citogenética hemato-oncológica

, 2022
Relatório de Estágio original, para o efeito da obtenção do grau de Mestre em Biotecnologia para as Ciências da Saúde, na Universidade de Trás-os-Montes e Alto DouroA citogenética está associada ao estudo da morfologia, estrutura, função e comportamento ...
Matos, Ana Soraia Torres
core   +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  

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

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

Implementación de la técnica de Hibridación in situ fluorescente (FISH) en Facultad de Medicina, UdelaR

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, Eugenia Choca, Florencia Savio, Vanina Silva, Catherin Vera, Faride Uturbey   +5 more
doaj  

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

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, Lucina Bobadilla-Morales, Jorge Román Corona-Rivera, Pablo Alejandro Chávez-Panduro, Citlalli Ortega-de-la-Torre, Uriel Francisco Santana-Bejarano, Elizabeth Torres-Anguiano, Lucero Mendoza-Maldonado, Fernando Antonio Sánchez-Zubieta, Alfredo Corona-Rivera   +9 more
doaj   +1 more source