“…Just 56 % of schools reported providing more than 20 min of recess daily. Differences in daily recess provision were apparent, with students in larger and lower-income schools receiving less daily recess than students in smaller and higher income schools. …”
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“…Gerber et al report 2 autosomal recessive pathogenic Misato homolog 1 (MSTO1) variants causing hereditary optic atrophy and raise concerns about a previously identified dominant variant of MSTO1 by Gal et al (2017).…”
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“…RESULTS: We examine differences in protein and coding sequence conservation between dominant and recessive human disease genes. Our analysis shows that disease genes affected by dominant mutations are more conserved than those affected by recessive mutations. …”
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“…Four different tests were combined together yielding a cancer recessive p-value for each studied gene. One hundred and fifty four candidate recessive cancer genes (p-value<1.5×10(−7), FDR = 0.39) were identified. …”
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“…The mutation of the spatacsin gene is the single most common cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum. …”
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“…The recession of gingiva is increasingly becoming a more prominent condition in the oral health of many patients and should be treated at its earliest detection. …”
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“…However, for many autosomal recessive diseases, it can be difficult to deduce the relative pathogenic contribution of individual alleles because relatively few affected individuals share the same two disease-causing variations. …”
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“…It may be syndromic, but most forms are non-syndromic with autosomal dominant, autosomal recessive or X-linked recessive inheritance. METHODS AND RESULTS: We identified a small consanguineous family with six patients with cone-rod dystrophy from the Faroe Islands. …”
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“…BACKGROUND: The effect of the recent world recession on population health has featured heavily in recent international meetings. …”
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“…We have recently identified a new gene (EYS) encoding an ortholog of Drosophila spacemaker (spam) as a commonly mutated gene in autosomal recessive RP. In the present study, we report the identification of 73 sequence variations in EYS, of which 28 are novel. …”
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“…OBJECTIVE: To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA). CASE REPORT: Two brothers are described who developed progressive cerebellar ataxia at 3 1/2 and 18 years, respectively. …”
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“…Three proteins, cartilage-associated protein (CRTAP), prolyl-3-hydroxylase-1 (P3H1, encoded by the LEPRE1 gene), and the prolyl cis-trans isomerase cyclophilin-B (PPIB), form a complex that is required for fibrillar collagen 3-prolyl-hydroxylation, and mutations in each gene have been shown to cause recessive forms of OI. Since then, an additional putative collagen chaperone complex, composed of FKBP10 (also known as FKBP65) and SERPINH1 (also known as HSP47), also has been shown to be mutated in recessive OI. …”
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“…A 22-year-old male with recessive dystrophic epidermolysis bullosa with a large superficial and nodular basal cell carcinoma on his right forehead was treated with photodynamic therapy. …”
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“…Of 7,028 disorders with suspected Mendelian inheritance, 1,139 are recessive and have an established molecular basis. …”
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“…Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. …”
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“…Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common inheritable disease manifesting in infancy and childhood with a frequency of 1:6,000 to 1:55,000 births. …”
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“…Finally, parkin autoubiquitinates only in cis, providing a molecular explanation for the recessive nature of autosomal recessive juvenile Parkinsonism.…”
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“…This combination of autosomal recessive inheritance has not been reported earlier in the literature and suggests a role of connective tissue genes in BFP.…”
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“…OBJECTIVE: Gingival recession (GR) is a common manifestation in most populations, and is considered as an early sign of periodontal disease. …”
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“…Although few genes are known to cause autosomal recessive RP (arRP), a large proportion of disease-causing genes remain to be revealed. …”
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