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Mostrando ítems 11-20 de 20
Angelman syndrome and thyroid dysfunction
(2012)
Angelman syndrome (AS) is a neurogenetic syndrome, has a prevalence of 1:10,000 to 1:40,000. Patients with AS have genetic alterations in maternal imprinting gene UB3A (15q11-q13) and molecular evaluations confirm the ...
Genomic imprinting and embryonic development Impronta genómica y desarrollo embrionario
(2012)
SUMMARY: In diploid organisms, autosomal genes are composed of two copies, or alleles, inherited from both parents at fertilization. For the vast majority of autosomal genes, expression occurs from both alleles simultaneously. ...
Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients
(Nature Publishing Group, 2018-08)
Mowat-Wilson syndrome (MWS) is characterized by severe intellectual disability, absent or impaired speech and microcephaly, with a gradual post-natal onset. The syndrome is often confused with other Angelman-like syndromes ...
Pesquisa de síndromes de microdeleção em pacientes com deficiência intelectual por meio da técnica de MLPA - Amplificação de Múltiplas Sondas Dependentes de Ligação
(Universidade Federal de São CarlosBRUFSCarPrograma de Pós-Graduação em Biotecnologia - PPGBiotec, 2012-09-21)
Intellectual disability (ID) is manifest sign of more than 2,000 different clinical conditions and is present in 5% of the population. Because it is a heterogeneous group of clinical conditions, with different causal factors ...
Genomic imprinting and human chromosome 15
(Sociedad de Biología de Chile, 2001)
Caracterización clínica y genética de una muestra de pacientes colombianos con Epilepsia y análisis de posibles factores moleculares intervinientes en la respuesta a fármacos
(Bogotá : Universidad de Ciencias Aplicadas y Ambientales, 2020Facultad de Ciencias de la SaludMedicina, 2020)
Epilepsy is defined by the International League Against Epilepsy (ILAE) as a chronic disease characterized by a predisposition to the occurrence of epileptic seizures that affect around 50 million people according to WHO, ...
Estudio molecular de pacientes colombianos afectados por enanismo esencial
(Universidad del RosarioMaestría en Ciencias con Énfasis en Genética HumanaFacultad de medicina, 2017)
Microcephalic primordial dwarfism syndromes are a group of rare monogenic diseases that are characterized primarily by extreme low stature of prenatal onset and severe microcephaly. In patients who participated in the ...
Aproximación comportamental y glutamatérgica de un modelo de roedor del trastorno del espectro autista por exposición prenatal a ácido valproico
(Universidad Nacional de ColombiaBogotá - Medicina - Maestría en NeurocienciasFacultad de MedicinaBogotá, ColombiaUniversidad Nacional de Colombia - Sede Bogotá, 2022-05)
El trastorno del espectro autista (TEA) es considerado un desorden en el neurodesarrollo caracterizado por déficit en la interacción social, la comunicación y presencia de comportamientos repetitivos y estereotipados. Se ...