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Further clinical delineation in trisomy 1q32 syndrome
(2001)
A male newborn with multiple congenital abnormalities was studied. Clinically, he showed prominent forehead, facial dysmorphism, ear malformations, congenital heart defect and limb anomalies. The cytogenetic studies ...
De novo del(6)(q25) associated with macular degeneration
(1986)
An eight-month-old girl with a de novo del(6)(q25) is described. She and other previous cases of 6q deletion showed concordance for developmental retardation associated with multiple unspecific congenital abnormalities, ...
Therapy of lysosomal storage diseases: Update and perspectives [Terapia de las enfermedades por depósito lisosomal: Actualidad y perspectivas]
(2011)
Lysosomal storage diseases (LSD) are caused by monogenic mutations in genes coding for multiple aberrant proteins involved in the catabolism of complex lipids, glycosaminoglycans, oligosaccharides, or nucleic acids. The ...
WNT-β-catenin signaling pathway and its relationship with cancer [La vía de señalizacion Wnt-β-catenina y su relación con cancer]
(2012)
The Wnt-β-catenin signalling pathway plays a crucial role in the regulation, differentiation, proliferation and cellular death processes; consequently, alterations in this pathway are involved in nu-merous abnormalities ...
De novo del(6)(q25) associated with macular degeneration
(1986)
An eight-month-old girl with a de novo del(6)(q25) is described. She and other previous cases of 6q deletion showed concordance for developmental retardation associated with multiple unspecific congenital abnormalities, ...
Presence of Cochlodinium catenatum (Gymnodiniales: Gymnodiniaceae) in red tides of Bahía de Banderas, Mexican Pacific [Presencia de Cochlodinium catenatum (Gymnodiniales: Gymnodiniaceae) en mareas rojas de Bahía de Banderas, Pacífico Mexicano]
(2004)
The evolution of an ichthiotoxic algal bloom caused by the dinoflagellate Cochlodinium catenatum was studied from July to December 2000. The abnormal multiplication of this dinoflagellate occurred in the form of a discoloration ...
Therapy of lysosomal storage diseases: Update and perspectives [Terapia de las enfermedades por depósito lisosomal: Actualidad y perspectivas]
(2011)
Lysosomal storage diseases (LSD) are caused by monogenic mutations in genes coding for multiple aberrant proteins involved in the catabolism of complex lipids, glycosaminoglycans, oligosaccharides, or nucleic acids. The ...
Further clinical delineation in trisomy 1q32 syndrome
(2001)
A male newborn with multiple congenital abnormalities was studied. Clinically, he showed prominent forehead, facial dysmorphism, ear malformations, congenital heart defect and limb anomalies. The cytogenetic studies ...
Measuring the profile of a simulated machined aspherical surface using a nonconventional optimization algorithm
(2015)
To understand the precise disease driving mechanisms in acute myeloid leukemia (AML), comparison of patient matched hematopoietic stem cells (HSC) and leukemia stem cells (LSC) is essential. In this analysis, we have ...