Deletion
Mostrando 1-12 de 15276 artigos, teses e dissertações.
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1. An intricate case of sporadic pseudohypoparathyroidism type 1B with a review of literature
SUMMARY Pseudohypoparathyroidism comprehends an assorted group of genetically rare disorders that share end-organ resistance to parathyroid hormone. Genetic and epigenetic modifications on guanine nucleotide-binding protein alpha-stimulating gene locus are the most common underlying mechanisms associated with pseudohypoparathyroidism. Biochemical and molecul
Arch. Endocrinol. Metab.. Publicado em: 2021-02
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2. DOES ELLIPSIS REPAIR HEAD MOVEMENT CONSTRAINT VIOLATIONS?
Abstract Using English data, I show that Head Movement Constraint violations cannot be repaired by deletion and compare this result with cases of both salvation and non-salvation by ellipsis from previous literature. I then consider two possible sources for this lack of repair. The first is to take the Head Movement Constraint as a derivational constraint, a
Ilha Desterro. Publicado em: 2020-12
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3. Detection of somatic TP53 mutations and 17p deletions in patients with chronic lymphocytic leukemia: a review of the current methods
ABSTRACT Chronic lymphocytic leukemia is the most common hematologic malignancy among adults in Western countries. Several studies show that somatic mutations in the TP53 gene are present in up to 50% of patients with relapsed or refractory chronic lymphocytic leukemia. This study aims to review and compare the methods used to detect somatic TP53 mutations a
Hematol., Transfus. Cell Ther.. Publicado em: 2020-09
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4. Clinical and molecular profile of a Brazilian cohort of patients with classical BCR-ABL1-negative myeloproliferative neoplasms
ABSTRACT Background: The classical BCR-ABL1-negative myeloproliferative neoplasms (MPNs) are Polycythemia Vera (PV), Essential Thrombocythemia (ET) and Primary Myelofibrosis (PMF). In developing countries, there are few reports that truly reveal the clinical setting of these patients. Therefore, we aimed to characterize a single center MPN population with a
Hematol., Transfus. Cell Ther.. Publicado em: 2020-09
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5. Congenital Heart Disease Revealing Familial 22q11 Deletion Syndrome
Abstract Congenital heart defects are the most common birth defects and the leading cause of mortality in the first year of life. It is well known that the 22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans and that congenial heart diseases (CHDs) are one of the most common phenotypic manifestations. However, it should be n
Int. J. Cardiovasc. Sci.. Publicado em: 2020-07
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6. Transcription factors and molecular markers revealed asymmetric contributions between allotetraploid Upland cotton and its two diploid ancestors
ABSTRACT Three Gossypium species have been used to breed cotton as they vary in their fiber production and resistance to stresses. Transcription factors (TFs) mostly are present in different copies or isoforms by which they conduct their regulation. Their copy number can determine organism behavior to a cue. Simple sequence repeats (SSRs) are one of the most
Bragantia. Publicado em: 2020-03
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7. A functional interaction between the CCR5 and CD34 molecules expressed in hematopoietic cells can support (or even promote) the development of cancer
Abstract Inflammation and angiogenesis are linked to the development of cancer since both can support the establishment of a tumor-prone microenvironment. The CCR5 is a major regulatory molecule involved in inflammation. The CD34 molecule is commonly described as a hematopoietic stem cell marker, and CD34+ cells are involved in the regulation of distinct phy
Hematol., Transfus. Cell Ther.. Publicado em: 2020-03
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8. What are the perspectives for blood donations and blood component transfusion worldwide? A systematic review of time series studies
ABSTRACT BACKGROUND: Analysis of the literature suggests that changes relating to blood donations and blood component transfusion are occurring due to the aging of the population. OBJECTIVE: To gain better understanding of the demand and supply of these inputs over time, and to identify the main associated demographic characteristics. DESIGN AND SETTING
Sao Paulo Med. J.. Publicado em: 2020-02
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9. Cognitive performance of children with spinal muscular atrophy: A systematic review
RESUMO A atrofia muscular espinhal (SMA) é genética e progressiva, causada por grandes deleções bi-alélicas no gene SMN1, ou pela associação de uma grande deleção e uma variante nula. Objetivo: Avaliar as evidências sobre o desempenho cognitivo na atrofia muscular espinhal (AME). Métodos: Pesquisas nas bases de dados PUBMED/ Medline, Web of Know
Dement. neuropsychol.. Publicado em: 09/12/2019
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10. Canine POMC deletion (P187fs) allele frequency in Labrador Retrievers in Brazil
RESUMO: O Labrador Retriever é uma das principais raças caninas com maior predisposição à obesidade. Vários fatores, especialmente as interrelações entre a alimentação, exercício e fatores sociais, influenciam a probabilidade de um cão se tornar obeso. Além disso, fatores genéticos são também responsáveis pela obesidade em cães, e no Labrad
Pesq. Vet. Bras.. Publicado em: 02/12/2019
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11. Arabic number writing in children with developmental dyslexia
Resumo A transcodificação numérica é uma tarefa do processamento numérico básico que demanda habilidades verbais durante a sua execução. O objetivo deste estudo foi investigar a habilidade de transcodificação numérica em crianças com dislexia do desenvolvimento. Participaram deste estudo 23 crianças com desenvolvimento escolar típico e 26 crian
Estud. psicol. (Campinas). Publicado em: 02/12/2019
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12. Intellectual performance profi le of a sample of children and adolescents from Brazil with 22q11.2 Deletion Syndrome (22q11.2DS) based on the Wechsler Scale
Resumo A Síndrome da Deleção 22q11.2 (SD22q11.2), microdeleção cromossômica mais frequente em humanos, é associada a um fenótipo neurocognitivo muito heterogêneo. Uma das principais características do espectro da síndrome é a variabilidade intelectual, que abrange de desempenho médio a deficiência intelectual, bem como discrepâncias entre Quoc
Estud. psicol. (Campinas). Publicado em: 11/11/2019