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Topical carbonic anhydrase inhibitors in macular edema associated with Alstrom syndrome
(Taylor & Francis, 2016)
Background: Alstrom syndrome is a rare genetic ciliopathy caused by a mutation in the ALMS1 gene. The syndrome is characterized by cone-rod dystrophy, dilated myocardiopathy, childhood obesity and sensorineural hearing ...
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
(Elsevier Inc, 2017)
The axoneme: the propulsive engine of spermatozoa and cilia and associated ciliopathies leading to infertility
(Springer, 2016-02)
This review article provides a critical analysis of the structure and molecular mechanisms of the microtubule axoneme of cilia and sperm flagella and their associated elements required for male fertility. A broad range of ...
Neurocristopathies: How new discnveries in neural crest research changed our understanding
(Omics International, 2018-12)
Neural Crest Cells (NCC) have long been recognized as the fourth layer of developing vertebrate embryos. Нe neural crest is a transient cell population that is probably heterogeneous but multipotent, giving rise to ...
Impacto de la cirug?a endosc?pica nasal en la funci?n pulmonar y la calidad de vida de los pacientes con fibrosis qu?sticas y ciliopat?a m?vil con rinosinusitis cr?nica en la poblaci?n infantil del Hospital Infantil Robert Reid Cabral, en el per?odo marzo 2019-marzo 2022
(Santo Domingo: Universidad Iberoamericana (UNIBE), 2022)
[Espa?ol] Objetivo general: Determinar el impacto de la Cirug?a Endosc?pica Nasal en la funci?n pulmonar y la calidad de vida en los pacientes de Fibrosis qu?stica y Ciliopat?a m?vil. M?todos: Se realiz? un estudio no ...
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum
(B M J Publishing GroupLondonInglaterra, 2011)
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases
(B M J Publishing GroupLondonInglaterra, 2012)
Language, behavior and neurodevelopment in Joubert syndrome: A case report
(2016-01-01)
The Joubert syndrome (JS) is a rare, heterogeneous genetic condition among the ciliopathies. More than 20 genes have been identified associated with this phenotype. The main manifestations include hypotonia, ataxia, ...
Análisis del rol de los genes ift80 y pnpla2 en el sistema visual del pez cebra (Danio rerio), y su relación con afecciones oculares en el humano.
(Universidad de Concepción.Facultad de Ciencias Naturales y Oceanográficas, 2023)
El ojo es el órgano sensorial fotosensible encargado de proporcionar la visión en los animales, y que es necesario para el correcto desarrollo y adaptación de los organismos en el medio que habitan. Tanto la retina como ...
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly
(2018)
Background Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype. ...