نتایج جستجو برای: taybi syndrome
تعداد نتایج: 621935 فیلتر نتایج به سال:
We show that, for the space of Borel probability measures on a Borel subset of a Polish metric space, the extreme points of the Prokhorov, Monge-Wasserstein and Kantorovich metric balls about a measure whose support has at most n points, consist of measures whose supports have at most n+2 points. Moreover, we use the Strassen and Kantorovich-Rubinstein duality theorems to develop representation...
This note contains three versions of a result which is sometimes referred to as Kneser’s lemma and states that (with respect to a fixed triangulation) there is a bound on the number of disjointly embedded normal surfaces in a 3–manifold which satisfy an extra non–triviality condition. One often stipulates that no two of the surfaces be parallel in M . We relax this condition and merely assume t...
In October 2016, the American Association for Cancer Research held a meeting of international childhood cancer predisposition syndrome experts to evaluate the current knowledge of these syndromes and to propose consensus surveillance recommendations. Herein, we summarize clinical and genetic aspects of RASopathies and Sotos, Weaver, Rubinstein-Taybi, Schinzel-Giedion, and NKX2-1 syndromes as we...
Increasing evidence indicates that epigenetic changes regulate cell genesis. Here, we ask about neural precursors, focusing on CREB binding protein (CBP), a histone acetyltransferase that, when haploinsufficient, causes Rubinstein-Taybi syndrome (RTS), a genetic disorder with cognitive dysfunction. We show that neonatal cbp(+/-) mice are behaviorally impaired, displaying perturbed vocalization ...
Rubinstein-Taybi syndrome (RTS) is characterized by peculiar facies, mental retardation, broad thumbs, and great toes. Approximately one-third of the affected individuals have a variety of congenital heart diseases. They can also have upper airway obstruction during sleep, due to hypotonia and the anatomy of the oropharynx and airway, which make these patients susceptible to obstructive sleep a...
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