Publicaties
La protección de datos en Europa y la persistente huella de la privacidad Vrije Universiteit Brussel
Resumen: Desde sus inicios en los años 60, el concepto legal de protección de datos ha estado a la sombra del término privacidad. En los Estados Unidos (EEUU) la regulación del procesamiento de la información relativa a los individuos se estableció de manera sólida en el marco de la privacidad, ya a principios de los años 70. En Europa, a pesar de compartir preocupaciones parecidas con los EEUU, los ordenamientos jurídicos fueron testigos, en ...
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion Vrije Universiteit Brussel KU Leuven
Genomic rearrangements are an increasingly recognized mechanism of human phenotypic variation and susceptibility to disease. Sotos syndrome is characterized by overgrowth, macrocephaly, developmental delay and advanced osseous maturation. Haploinsufficiency of NSD1, caused by inactivating point mutations or deletion copy number variants, is the only known cause of Sotos syndrome. A recurrent 2 Mb deletion has been described with variable ...
Switch in FGFR3 and-4 Expression Profile During Human Renal Development May Account for Transient Hypercalcemia in Patients With Sotos Syndrome due to 5q35 Microdeletions KU Leuven
Context: Sotos syndrome is a rare genetic disorder with a distinct phenotypic spectrum including overgrowth and learning difficulties. Here we describe a new case of Sotos syndrome with a 5q35 microdeletion, affecting the fibroblast growth factor receptor 4 (FGFR4) gene, presenting with infantile hypercalcemia. Objective: We strived to elucidate the evanescent nature of the observed hypercalcemia by studying the ontogenesis of FGFR3 and FGFR4 - ...
Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa) KU Leuven
Sotos syndrome is a widely studied overgrowth syndrome. Clinical presentation includes excessive growth during childhood, macrocephaly, learning difficulties of various degrees, variable minor features, and distinctive facial gestalt. We provide in this report the first phenotypic and growth description of Sotos syndrome in a patient from Central Africa. At 6 month the patient exhibited axial hypotonia, delayed speech development and dysmorphism ...
Protección de datos y cooperación policial y judicial en materia penal en la UE Vrije Universiteit Brussel
Una parte sustancial de los mecanismos para indagar y probar la comisión de delitos se basa en el examen de novedosas fuentes o soportes de datos. Nos referimos a formatos electrónicos, a bases de datos recopilados preventivamente (videovigilancia, tráfico de telecomunicaciones, perfiles identificadores de ADN, etc.) o, incluso, a las llamadas «actividades de inteligencia». Estas nuevas formas de obtención de información han irrumpido ya hace ...
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: Is it really a reversed sotos syndrome? KU Leuven
Loss-of-function mutations of NSD1 and 5q35 microdeletions encompassing NSD1 are a major cause of Sotos syndrome (Sos), which is characterized by overgrowth, macrocephaly, characteristic facies, and variable intellectual disability (ID). Microduplications of 5q35.2-q35.3 including NSD1 have been reported in only five patients so far and described clinically as a reversed Sos resulting from a hypothetical gene dosage effect of NSD1. Here, we ...
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: Is it really a reversed sotos syndrome? KU Leuven
Loss-of-function mutations of NSD1 and 5q35 microdeletions encompassing NSD1 are a major cause of Sotos syndrome (Sos), which is characterized by overgrowth, macrocephaly, characteristic facies, and variable intellectual disability (ID). Microduplications of 5q35.2-q35.3 including NSD1 have been reported in only five patients so far and described clinically as a reversed Sos resulting from a hypothetical gene dosage effect of NSD1. Here, we ...
¿Constituyen las Antillas y el Caribe continental una sola zona dialectal? Datos de la variable expresión del sujeto pronominal en San Juan de Puerto Rico y Barranquilla, Colombia KU Leuven
Aunque la variación entre sujetos explícitos y tácitos se ha investigado en dialec- tos del español (Cameron 1995; Orozco y Guy 2008), no contamos con estudios contrastivos entre dos variedades caribeñas. Sin embargo, tal comparación podrá arrojar nueva luz sobre las zonas dialectales de América (cf. Otheguy, Zentella y Livert 2007). Por ello, en este trabajo investigamos (i) la distribución de las va- riantes en San Juan (18 ...