نتایج جستجو برای: nager syndrome
تعداد نتایج: 621954 فیلتر نتایج به سال:
Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome
This study investigated if developmental dyscalculia (DD) in children with different profiles of mathematical deficits has the same or different cognitive origins. The defective approximate number system hypothesis and the access deficit hypothesis were tested using two different groups of children with DD (11-13 years old): a group with arithmetic fact dyscalculia (AFD) and a group with genera...
Segmentation is a fundamental process in vertebrate embryogenesis, and one of the earliest manifestations of segmental patterning is the generation of transient, serially repeated blocks of mesodermal cells known as somites. Disruption of the normal segmentation process in humans leads to vertebral abnormalities such as spondylocostal dysostosis. In this minireview, we discuss recent advances i...
The spliceosome is a large ribonucleoprotein complex that removes introns from pre-mRNA transcripts. Mutations in EFTUD2, encoding a component of the major spliceosome, have recently been identified as the cause of mandibulofacial dysostosis, Guion-Almeida type (MFDGA), characterized by mandibulofacial dysostosis, microcephaly, external ear malformations and intellectual disability. Mutations i...
IMPROVED treatment of acute and chronic otitis media has led to a significant reduction in the incidence of intracranial complications of otogenic origin. Modern surgical technique and the use of antibacterial agents have made these complications relatively rare and greatly improved their prognosis. Otogenic meningitis is still the most frequent complication (Nager, 1966), while cases of brain ...
Moderate plant height and successful establishment of reproductive organs play pivotal roles in rice grain production. The molecular mechanism that controls the two aspects remains unclear in rice. In the present study, we characterized a rice gene, ABNORMAL FLOWER AND DWARF1 (AFD1) that determined plant height, floral development and grain yield. The afd1 mutant showed variable defects includi...
Cleidocranial dysostosis is a generalised dysplasia of bone and teeth with predominantly autosomal dominant inheritance. A new case referred to the Paediatric Department at the British Military Hospital, Rinteln is reported and a review of the literature discussed.
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