Results 41 to 50 of about 4,430 (135)
Análisis genotípico de 11 pacientes colombianos son síndrome de Apert
Revista de la Facultad de Medicina, 2013 Antecedentes. El síndrome de Apert (SA) es una de las craneosinostosis sindrómicas más severas que afecta el neuro y viscerocraneo y además presenta alteraciones multisistémicas con repercusiones en aspectos físicos (aspecto general y talla baja ...
Harvy M. Velasco +7 more
doaj
Clinical and Translational Discovery, Volume 6, Issue 1, February 2026.This systematic review synthesizes evidence from published studies, GWAS and grey literature (patents) to show that CAMK1D is implicated in diabetes, obesity, insulin resistance and altered feeding behaviours, with diagnostic potential and mechanistic relevance through regulatory binding and tissue‐specific effects.
Livio Tarchi +13 more
wiley +1 more source
Chronic Granulomatous Disease: Clinical and Molecular Characterization of Brazilian Patients
The Journal of Gene Medicine, Volume 28, Issue 2, February 2026.Chronic granulomatous disease is a rare inborn error of immunity characterized by the deficient production of reactive oxygen species in phagocytes, which are used in pathogen elimination. Affected individuals become susceptible to severe infections.
Leonardo Martinello da Rosa +4 more
wiley +1 more source
Clinical Genetics, Volume 109, Issue 2, Page 305-315, February 2026.Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.
Lucile Boutaud +19 more
wiley +1 more source
La atrofia muscular espinal en el nuevo escenario terapéutico
Revista Médica Clínica Las Condes, 2018 Resumen: Se han producido recientemente importantes avances terapéuticos en la atrofia muscular espinal (AME) por alteración del gen SMN1, conocida también como AME 5q por la localización cromosómica de dicho gen.
Eduardo F. Tizzano
doaj +1 more source
European Journal of Medical Research, 2021 Background Since 2011, screening maternal blood for cell-free foetal DNA (cffDNA) fragments has offered a robust clinical tool to classify pregnancy as low or high-risk for Down, Edwards, and Patau syndromes. With recent advances in molecular biology and
Taccyanna M. Ali +9 more
doaj +1 more source
CDG due to Defective Membrane Transporters: Update
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
D. Quelhas, C. R. Ferreira, J. Jaeken
wiley +1 more source
Genética Molecular y Trastornos del Espectro Autista
Anales de la Facultad de Medicina, 2015 Los Trastornos del Espectro Autista son un grupo de trastornos neuropsiquiátricos heterogéneos tanto en su fenotipo como en su etiología. La importancia del tema radica en el aumento de la prevalencia, siendo actualmente la prevalencia mundial de 60 a 90
Luciana Fariña +4 more
doaj +2 more sources
Biología molecular en oncología: lo que un clínico debiera saber
Revista Médica Clínica Las Condes, 2013 El cáncer es una patología con prevalencia en alza y cuyo origen se encuentra en el DNA, más específicamente en las alteraciones que lo afectan, y que finalmente se traducen en la desregulación del ciclo celular y de los mecanismos celulares reparadores ...
Dr. Encina S. Gonzalo
doaj +1 more source
Clinical Genetics, Volume 109, Issue 1, Page 136-140, January 2026.In a multicenter study of 692 patients with kidney disease, a 44‐gene panel achieved a 36% diagnostic yield. The 36% yield was not significantly lower than with larger panels or whole‐exome sequencing. A post hoc machine‐learning model identified key predictors to stratify patients into four risk bins (11%–74% yield), enabling more cost‐effective ...
Silvia Giovanella +22 more
wiley +1 more source