نتایج جستجو برای: de lange syndrome
تعداد نتایج: 2119379 فیلتر نتایج به سال:
Cornelia de Lange syndrome is a multisystemic developmental disorder mainly related to de novo heterozygous NIPBL mutation. Recently, NIPBL somatic mosaicism has been highlighted through buccal cell DNA study in some patients with a negative molecular analysis on leukocyte DNA. Here, we present a series of 38 patients with a Cornelia de Lange syndrome related to a heterozygous NIPBL mutation id...
Machado de Assis's own writings about his epilepsy are here given. They come from his correspondence with his friend Mario de Alencar during the last 8 months of Machado de Assis's life. These are the only places where Machado de Assis dealt clearly with his epilepsy during his entire life.
I read with great interest the recent article by Papiamonis et al.1 One gastrointestinal complication that is seen with an increased frequency in patients with Cornelia de Lange syndrome and that is often under-reported is intestinal volvulus. Volvulus in Cornelia de Lange syndrome is most common in the cecal portion of the intestine. Non-fixation of the caecum is the most common attributable c...
OBJECTIVE To evaluate individuals with Cornelia de Lange syndrome previously screened for mutations in the NIPBL gene for genotype-phenotype correlations with regard to severity of ophthalmologic findings. METHODS Fifty-four patients with Cornelia de Lange syndrome (26 mutation positive and 28 mutation negative) with varying extent and severity of ophthalmologic findings participated in the s...
1 1 1 Luiz Gustavo de Lima Vaz , Márcia Regina Fagundes Klen , Márcia Teresinha Veit , Edson Antonio da 1 1 2 Silva , Tatiany Aparecida Barbiero , Rosângela Bergamasco Universidade Estadual do Oeste do Paraná (UNIOESTE) Centro de Engenharias e Ciências Exatas Engenharia Química Toledo PR Universidade Estadual de Maringá (UEM) – Departamento de Engenharia Química – Maringá PR luizgustavovaz@gmai...
In the present paper we will show that the Beth de nability property corresponds to surjectiveness of epimorphisms in abstract algebraic logic. Furthermore, we will give an equally general characterization of the weak Beth de nability property, hereby giving a solution to Problem 14 in [Sa 88]. Finally, we will present two counterexamples showing that two of the more striking assumptions impose...
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