Buscar
Mostrando ítems 11-20 de 25917
De novo dup(7)(q21q22.2) and cytogenetics of 7q21q34 duplications
(2013)
De novo dup(7)(q21q22.2) and cytogenetics of 7q21q34 duplications: We report on a constitutional dup(7)(q21q22.2) and compile 25 similar mid-7q imbalances in order to sort out relevant cytogenetic aspects. The propositus ...
De novo dup(7)(q21q22.2) and cytogenetics of 7q21q34 duplications
(2013)
De novo dup(7)(q21q22.2) and cytogenetics of 7q21q34 duplications: We report on a constitutional dup(7)(q21q22.2) and compile 25 similar mid-7q imbalances in order to sort out relevant cytogenetic aspects. The propositus ...
New results on the q-generalized Bernoulli polynomials of level m
(Demonstratio Mathematica, 2020)
The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review
(J Pediatr Genet, 2020-09-01)
The 22q11.2 deletion syndrome (22q11.2DS) is present in approximately 5 to 8% of patients with cleft lip, palate, or both (CL/P) and 75 to 80% of patients with congenital heart disease (CHD). In a literature review, we ...
Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up
(BMC, 2014-08-22)
Background
Partial duplication 1q is a rare cytogenetic anomaly frequently associated to deletion of another chromosome, making it difficult to define the precise contribution of the different specific ...
Expression of common fragile sites in two Ceboidea species: Saimiri boliviensis and Alouatta caraya (Primates: Platyrrhini)
(BioMed Central, 2000-02)
Fragile sites are points of preferential breakage that may be involved in chromosome rearrangements. Induction of common fragile sites (c-fra) and spontaneous breakage were analyzed in two New World Monkeys species: Saimiri ...
Deficiencia de Coenzima Q10: ¿una enfermedad huérfana en Argentina?Coenzyme Q10 deficiency: an orphan disease in argentina?
(Academia Nacional de Farmacia y Bioquimica, 2013-11)
En la actualidad, el estudio de la coenzima Q10 (CoQ10) representa un área de vacancia en Argentina. La CoQ10 es fundamental para la producción celular de energía y es considerada un potente antioxidante endógeno. Su ...
Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients
(Nature, 2017)
22q11.2 microdeletion syndrome (22q11.2DS) is the most common microdeletion disorder in humans, with an incidence of 1/4000 live births. It is caused by a heterozygous deletion of 1.5-3 Mb on chromosome region 22q11.2. ...