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128.198  Articles
1 of 12.821 pages  |  10  records  |  more records»
We report prenatal diagnosis of two affected males with an Xq26.1-q26.3 duplication from a mother with gonadal mosaicism. The first affected pregnancy was referred by ultrasound observed intrauterine growth retardation and abnormal cerebellar anatomy. Chr... see more

Many chromosome translocations involve microdeletions and/or microduplications leading to chromosomal abnormalities associated with multiple congenital anomalies and mental retardation (MCA/MR). AA, male, children of non-consanguineous and healthy young c... see more

Xenarthra, one of the four mammalian superorders, is exclusively found in Central and South America and is possibly positioned at the base of the Eutherian phylogenetic tree. Cytogenetic studies of this group are very few and mainly restricted to the desc... see more

Background: Panoramic and cephalometric radiography is very important for diagnosis, treatment plan, and evaluation of orthodontic treatment results. Panoramic and cephalometric radiography are frequently performed at the same time, causing DNA damage and... see more

Background: Panoramic and cephalometric radiography is very important for diagnosis, treatment plan, and evaluation of orthodontic treatment results. Panoramic and cephalometric radiography are frequently performed at the same time, causing DNA damage and... see more

Distrofia muscular de Duchenne. A propósito de un caso / Duchenne Muscular Dystrophy. About a case Distrofia muscular de Duchenne. A propósito de un caso / Duchenne Muscular Dystrophy. About a case Las Distrofias Musculares Progresivas comprometen de forma grave e irreversible la musculatura esquelética del organismo humano, dentro de ellas la más frecuente es la Distrofia Muscular de Duchenne, trastorno genético ligado al cromosoma X, que afecta a los niños, principalmente, masculinos. Se describe el caso de un niño, con antecedentes patológicos familiares y cuadro clínico de Distrofia Muscular de Duchenne, que la familia desconocía el carácter hereditario de la misma. Se realizó la extracción de ADN a partir de la saliva, cuyo estudio molecular confirmó el diagnóstico de este trastorno. En las distrofinopatías es importante realizar el diagnóstico precoz para poder prevenir el avance y complicaciones de la enfermedad, brindando a la familia el asesoramiento para el cuidado del paciente, así como la posibilidad de estudio y el consejo genético que les permita una adecuada planificación familiar. Palabras clave: Distrofia Muscular Congénita; Distrofía Muscular Duchenne.ABSTRACT  The Progressive Muscular Distrofias commits in a serious and irreversible way the skeletal musculature of the human organism, inside them the Muscular Distrofia of Duchenne (DMD) it is the most frequent and it constitutes a bound genetic dysfunction to the chromosome X that affects mainly masculine children.  The case of a boy is described, with family pathological antecedents and clinical square of Muscular Distrofia of Duchenne that the family ignored the hereditary character of the same one. He was carried out the extracciòn of DNA starting from the saliva whose molecular study confirmed the diagnosis of DMD.  In the distrofinopatías it is important to carry out the precocious diagnosis for r to prevent the advance and complications of the illness, offering to the family the advice for the patient’s care, as well as the study possibility and genetic advice that it allows them an appropriate family planning.Keywords: Congenital Muscular Dystrophy, Duchenne Muscular, Dystrophy.

ABSTRACT  The Progressive Muscular Distrofias commits in a serious and irreversible way the skeletal musculature of the human organism, inside them the Muscular Distrofia of Duchenne (DMD) it is the most frequent and it constitutes a bound genetic dy... see more

The detection of the SRY (Sex-determining region on the Y chromosome) gene is a popular method used for the identification of freemartins (XX/XY female chimeras). This method relies on the fact that the SRY gene is a Y chromosome specific gene and is thus... see more

We report on a newborn female infant with a unique ring chromosome 13. Prenatal findings include intrauterine growth restriction (IUGR); ventricular septal defect (VSD), overriding aorta, and pulmonary stenosis. Postnatal examination found mild dysmorphic... see more

We report on a newborn female infant with a unique ring chromosome 13. Prenatal findings include intrauterine growth restriction (IUGR); ventricular septal defect (VSD), overriding aorta, and pulmonary stenosis. Postnatal examination found mild dysmorphic... see more

1 of 12.821 pages  |  10  records  |  more records»