Results 21 to 30 of about 534 (156)

Epilepsia y síndrome dismórfico asociado a cromosomopatía hereditaria ligada al cromosoma X, tipo micro-duplicación

Acta Neurológica Colombiana, 2016
Los hallazgos de síndromes dismórficos asociados a cromosomopatía ligada a X y epilepsia son de presentación infrecuente. Presentamos un caso de alteración genética en un paciente masculino, con microduplicación ligada al cromosoma X MECP2 y antecedente
Wolfang Rubio Rodríguez, Martín Torres Zambrano, Giancarlos Conde Cardona, Aldo Caraballo, Margarita García Meléndez, Luis Polo Verbel, José Andrés Gamero Tafur, Juan Torres Sandoval   +7 more
doaj   +1 more source

22@ and the Innovation District in Barcelona and Montreal: A Process of Clustering Development between Urban Regeneration and Economic Competitiveness

Urban Studies Research, Volume 2011, Issue 1, 2011., 2011
This paper analyzes the governance strategy of the 22@ District in Barcelona in order to assess the factors that explain its success and could support the economic reconversion of Montreal’s future Innovation District (ID), as well as that of other cities. We examine the case of the 22@ District as a former industrial neighbourhood seen as a “model” of
Angelo Battaglia, Diane-Gabrielle Tremblay, Ben Derudder   +2 more
wiley   +1 more source

Paciente con insuficiencia suprarrenal por mutación de novo en el gen NR0B1

Advances in Laboratory Medicine, 2023
La hipoplasia suprarrenal congénita ligada al cromosoma X es una enfermedad rara con base genética conocida, que se presenta con insuficiencia suprarrenal e hipogonadismo hipogonadotrófico y expresión clínica variable.
Bravo Nieto Daniel, García Fernández Alba S., Diaz Troyano Noelia, Giralt Arnaiz Marina, Arias García Andrea, Fernández Álvarez Paula, Campos Martorell Ariadna, Ferrer Costa Roser, Clemente León María   +8 more
doaj   +1 more source

Chromosomes of Some Puerto Rican Disonychina and Oedionychina (Coleoptera: Chrysomelidae: Alticinae: Oedionychini): Evolutionary Implications

, 1991
Psyche: A Journal of Entomology, Volume 98, Issue 4, Page 373-390, 1991.
Niilo Virkki, Jorge A. Santiago-Blay, Shawn M. Clark   +2 more
wiley   +1 more source

Tell Me How Much DNA You Have and I'll Tell You What Your Sex Is: Sex Determination by Flow Cytometry of Spiderlings of Allocosa marindia

Ecology and Evolution, Volume 16, Issue 4, April 2026.
The manuscript addresses the sex determination of spiderlings of the wolf spider Allocosa marindia using flow cytometry. Spiders are born with a defined sex, but it is not possible to determine their sex phenotypically until the adult or near‐adult stage. Sex identification at early stages of development is of great interest for studies in evolutionary
Leticia Bidegaray‐Batista, Nadia Kacevas, Federico F. Santiñaque, Magdalena Vaio, Macarena González   +4 more
wiley   +1 more source

Rachitismo ipofosfatemico legato al cromosoma X (XLH) nel paziente adulto

L'Endocrinologo, 2022
SommarioIl rachitismo ipofosfatemico legato al cromosoma X (XLH) è una rara malattia congenita caratterizzata da perdita renale del fosfato e conseguente ipofosfatemia. I pazienti adulti con XLH possono presentare manifestazioni cliniche molto variabili da forme lievi a più gravi, comprendenti: osteomalacia, fratture e pseudofratture, deformità ossee ...
Gemma Marcucci, Maria Luisa Brandi
openaire   +1 more source

Estimación del sexo a nivel molecular en restos esqueléticos humanos [PDF]

Munibe Antropologia-Arkeologia, 2001
La estimación del sexo de restos humanos de procedencia se ha venido realizando mediante el análisis morfológico de los restos esqueléticos. Sin embargo este tipo de análisis resulta inapropiado para el caso de individuos infantiles o en el caso de ...
N. Izagirre, N. Bizcarra, A. Alzualde, C. de la Rua   +3 more
doaj  

Meristic co‐evolution and genomic co‐localization of lateral line scales and vertebrae in Central American cichlid fishes

Ecology and Evolution, Volume 14, Issue 9, September 2024.
We dissect the co‐evolution and genetic architecture of lateral line scale counts and vertebrae numbers in Neotropical Heroine cichlids. Our phylogenetic comparative analyses recovered a positive correlation between these two traits. Furthermore, our qualitative traits locus (QTL) analyses identified significant genomic co‐localized associations for ...
Nicolas Ehemann, Paolo Franchini, Axel Meyer, C. Darrin Hulsey   +3 more
wiley   +1 more source

Puerto Rican welfare queens and the semiotics of respectability: The language of race, class, and gender

Journal of Sociolinguistics, Volume 28, Issue 3, Page 71-93, June 2024.
Abstract In this article, we explore how raciolinguistic parody functions in a society that hegemonically denies racial divisions. Through an analysis of Puerto Rican comedian Natalia Lugo's YouTube portrayals of her character, Francheska the Yal ‘welfare queen,’ we argue that covert racialization operates through a semiotics of respectability, whereby
Mary Elizabeth Beaton, Whitney Chappell, Ashlee Dauphinais Civitello   +2 more
wiley   +1 more source

Síndrome frágil X

Medimay, 2014
Se realiza una revisión actualizada sobre las peculiaridades clínicas fenotípicas, citogenéticas, diagnosticas y de pesquisaje del Síndrome frágil X o de Martín Bell, una de las enfermedades monogénicas mas frecuentes en el ser humano y causa más común ...
Jesús Pérez Ramas
doaj   +4 more sources