Zobrazeno 1 - 10
of 12
pro vyhledávání: '"María Carolina Manotas"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 5, Pp n/a-n/a (2023)
Abstract Background Variant curation refers to the application of evidence‐based methods for the interpretation of genetic variants. Significant variability in this process among laboratories affects clinical practice. For admixed Hispanic/Latino p
Externí odkaz:
https://doaj.org/article/154a6a1444524a5188a616c0dd61275b
Autor:
María Carolina Manotas, Ana Lucía Rivera, Ana Milena Gómez, Patricia Abisambra, Gonzalo Guevara, Vilma Medina, Sandra Tapiero, Antonio Huertas, Julián Riaño-Moreno, Juan Carlos Mejía, Angélica María Gonzalez-Clavijo, Mireya Tapiero-García, Andrés Arturo Cuéllar-Cuéllar, Luis Felipe Fierro-Maya, María Carolina Sanabria-Salas
Publikováno v:
Frontiers in Genetics, Vol 13 (2023)
Pheochromocytomas (PCCs) and paragangliomas (PGLs) (known as PPGL in combination) are rare neuroendocrine tumors of the adrenal medulla and extra-adrenal ganglia. About 40% of the patients with PPGL have a hereditary predisposition. Here we present a
Externí odkaz:
https://doaj.org/article/bb476b50582347ca80bb2ee962bf8546
Autor:
María Carolina Manotas, Juan Camilo Calderón, Liliana López-Kleine, Fernando Suárez-Obando, Olga M. Moreno, Adriana Rojas
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Abstract Background Analysis of patients with chromosomal abnormalities, including Turner syndrome and Klinefelter syndrome, has highlighted the importance of X‐linked gene dosage as a contributing factor for disease susceptibility. Escape from X
Externí odkaz:
https://doaj.org/article/a7dffc001ebb4409b11053b082a996c1
Autor:
Maria Carolina Sanabria Salas, Ana María Pedroza Duran, Ana Lucía Rivera, Daniel Gonzalez Hurtado, Daniela María Cuadrado Franco, María Andrea Quintero Ortiz, Raúl Alexis Suarez Rodriguez, Ana Milena Gómez Camacho, María Carolina Manotas, Ricardo Brugés Maya, Luis Hernán Guzmán Abi-Saab, Ximena Briceño Morales, Jesús Oswaldo Sánchez Castillo, Fernando Contreras Mejía, Carlos Lehmann Mosquera, Mauricio García-Mora, Javier Ángel Aristizabal, Iván Fernando Mariño Lozano, Eduardo Alfonso Rojas Andrade, Sandra Esperanza Diaz Casas
Publikováno v:
Revista Colombiana de Cancerología. 27:26-41
Introducción. Los síndromes de cáncer de mama hereditario (SCMH) corresponden a un 5% a 10% de todos los casos de la enfermedad, en su mayoría explicados por mutaciones en los genes BRCA1 y BRCA2. Se han publicado múltiples guías y recomendacio
Autor:
María Carolina Manotas, Mary García-Acero, Adriana Patricia Rojas Moreno, Olga Moreno, Jaime Pérez, Camila Céspedes, Catalina Forero, Nicolás Fernández, Fernando Suárez-Obando
Publikováno v:
Pediatría. 55:60-69
Antecedentes: Los trastornos del desarrollo sexual (TDS) incluyen un grupo de entidades clínicas infrecuentes. La baja prevalencia de estas enfermedades y el impacto social que tienen en la comunidad requieren el registro sistemático de la informac
Autor:
María Carolina Manotas, Mary García-Acero, Daniel González, Camila Bernal, Mariana Guerra, Olga Moreno-Niño, Fernando Suárez, Camila Céspedes, Catalina Forero, Jaime Pérez, Adriana Patricia Rojas
Publikováno v:
Revista Mexicana de Urología. 81:1-19
Objectives: Etiology of gonadal dysgenesis and ovotesticular syndrome is unknown in a majority of cases. To perform cytogenetic and molecular characterization of a group of patients with ovotesticular syndrome and complete gonadal dysgenesis from per
Autor:
María Carolina Manotas, Mónica Molina, Jaime Pérez, Olga Moreno-Niño, Fernando Suárez-Obando, Catalina Forero, Mary García-Acero, Nicolás Fernández, Adriana Rojas, Camila Céspedes, Juan Carlos Prieto
Publikováno v:
Molecular Medicine Reports
Disorders of sex development (DSDs) are congenital conditions in which the external appearance of the individual does not coincide with the chromosomal constitution or the gonadal sex. In other words, there is an ambiguous or intermediate condition b
Autor:
Daniel González, María José Peña, Camila Bernal, Mary García-Acero, Maria Carolina Manotas, Fernando Suarez-Obando, Adriana Rojas
Publikováno v:
Heliyon, Vol 10, Iss 12, Pp e33173- (2024)
Background: The transcription factor SOX9 is a key regulator of male sexual development and Sertoli cell differentiation. Altered SOX9 expression has been implicated in the pathogenesis of disorders of sexual development (DSD) in mammals. However, li
Externí odkaz:
https://doaj.org/article/c1f0057e9cd24a0fbcca7c25cf5c0ef2
Autor:
Adriana Rojas, Mary García-Acero, Nicolás Fernández, Camila Céspedes, María Carolina Manotas, Catalina Forero, Olga Moreno, Jaime Pérez, Fernando Suárez-Obando, Daniel Mauricio González
Publikováno v:
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 14(1-6)
Isodicentric Y chromosome [idic(Y)] is one of the most common structural abnormalities of the Y chromosome and has been observed in patients with reproductive disorders and in patients with disorders of sexual development. Most idic(Y) chromosomes ar
Autor:
Liliana López-Kleine, María Carolina Manotas, Fernando Suárez-Obando, Olga Moreno, Juan Camilo Calderón, Adriana Rojas
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Background Analysis of patients with chromosomal abnormalities, including Turner syndrome and Klinefelter syndrome, has highlighted the importance of X‐linked gene dosage as a contributing factor for disease susceptibility. Escape from X‐inactiva