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“…Introduction/Aim: Soft tissue dehiscences such as gingival recessions are a very common problem that we face in modern periodontics. …”
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“…Autosomal dominant (ADPKD) and autosomal recessive (ARPKD) polycystic kidney disease are the most widely known cystic kidney diseases. …”
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“…Thus, this retrospective case control study evaluated the impact of bilateral lateral rectus recession in intermittent exotropia on myopic progression. …”
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“…Osteopetrosis is inherited in the form of autosomal dominant and autosomal recessive manner. We report autosomal recessive osteopetrosis (ARO; OMIM 611490) in a Chinese case with a history of scarce leukocytosis, vision and hearing loss, frequent seizures, and severe intellectual and motor disability. …”
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“…In addition to central nervous system defects, diseases caused by recessive mutations in cytosolic ARSs commonly affect the liver and lungs. …”
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“…OBJECTIVE: We aimed at analysing changes in consumption of selected food groups in the Portuguese population before and after the Great Recession, which hit the country between 2008 and 2013. …”
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“…Therefore, in this study, we present a comprehensive review of the association between autosomal recessive and dominant APC (-)/CAP genotypes and clinical phenotypes and conclude that APC (-)/CAP is a disease caused by multiple genes with different phenotypes and interaction exists in the pathogenic genes.…”
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“…Recently, biallelic mutations in the NDUFS2, DNAJC30, MCAT and NDUFA12 nuclear genes have been identified in unresolved LHON cases, identifying an autosomal recessive LHON (arLHON, OMIM:619382). The clinical presentation of arLHON copies that of typical LHON due to mtDNA mutations (mtLHON), with an acute phase of sudden and severe vision loss, telangiectatic and tortuous vessels around the optic nerve and swelling of the retinal nerve fibre layer. …”
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“…MVPA was higher for boys compared to girls in parkour recess (64% vs 58%; p = .002) and traditional recess (49% vs 39%; p = .006), but not in physical education (40% vs 37%). …”
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“…ARSACS (autosomal recessive spastic ataxia of Charlevoix-Saguenay) is a human neurological disorder characterized by progressive cerebellar ataxia and peripheral neuropathy. …”
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“…Eight mm recession for amplitude 15 PD to 20 PD and mild IOOA (10 PD-15 PD or + 1) ,10 mm recession for amplitude 20–30 PD and moderate IOOA (15–25 PD or + 2) and maximum recession for amplitude more than 30 PD and marked IOOA (≥ 25 PD or + 3). …”
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“…Patient: Female, 19-year-old Final Diagnosis: Nephronophthisis Symptoms: Fatigue • poor appetite Clinical Procedure: — Specialty: Genetics • Nephrology OBJECTIVE: Rare disease BACKGROUND: Nephronophthisis, an autosomal recessive ciliopathy involving mutations in primary cilium genes, is characterized by chronic tubulointerstitial nephritis and a defective urine concentrating capacity. …”
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“…BACKGROUND: In chickens, three mutant alleles have been reported at the C locus, including the albino mutation, and the recessive white mutation, which is characterized by white plumage and pigmented eyes. …”
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“…BACKGROUND: Recess provides a daily opportunity for children to engage in moderate-to-vigorous (MVPA) and vigorous physical activity (VPA). …”
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“…The results show that the spindle cell phenotype as determined by cell morphology and lack of expression of keratin, E-cadherin, and desmoplakin proteins, is recessive in all hybrids with squamous cells. The hybrids expressed all of these differentiation markers, and showed suppression of tumorigenicity to a variable level dependent upon the tumorigenic properties of the less malignant fusion partner. …”
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“…Fibroblast cultures from patients with recessive dystrophic epidermolysis bullosa (RDEB) demonstrated an increased capacity to synthesize and secrete collagenase. …”
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“…CaR activation had no detectable effect on cystogenesis in models of autosomal recessive or dominant polycystic kidney disease. The lack of protective effect could be due to the absence of CaR in the outer medullary and cortical collecting ducts, the reduction in extracellular calcium and the unaffected levels of renal cAMP and renal expression of cAMP-dependent genes. …”
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“…PURPOSE: To determine the the prevalence of pathogenic mutations in the gene encoding lecithin retinol acyltransferase (LRAT) in patients from North America with either Leber congenital amaurosis (LCA) or autosomal recessive retinitis pigmentosa (ARRP). METHODS: Exon 1, exon 2, and the coding region of exon 3 of LRAT were PCR-amplified and directly sequenced from the leukocyte DNA of 82 unrelated patients with LCA and 190 unrelated patients with ARRP. …”
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