Search results for "Phenotypic variability"
showing 9 items of 9 documents
Morphological and molecular variability within the fig cultivar 'Dottato' in the Italian protected designation origin area "fichi di Cosenza"
2017
The morphological and molecular diversity among fig accessions of 'Dottato', found in the PDO "Fichi di Cosenza" area was studied by evaluating 24 morphological traits and by genotyping with 18 microsatellite markers. The microsatellite allelic profiles among the putative clones of 'Dottato' indicated a moderate genetic variability, discriminating unambiguously most of the accessions. Only two groups of identity were found. The average expected and observed heterozygosity were 0.43 and 0.62, respectively. The mean polymorphic information content (PIC) was 0.4, varying from 0.08 (LMFC26) to 0.067 (FCUP 38-6). The morphological clustering allowed the distinction of all genotypes. Some genotyp…
New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients
2017
Abstract Introduction The diagnosis aceruloplasminemia is usually made in patients with advanced neurological manifestations of the disease. In these patients prognosis is poor, disabilities are severe and patients often die young. The aim of our study was to facilitate recognition of aceruloplasminemia at a disease stage at which treatment can positively influence outcome. Currently, the neurological phenotype of aceruloplasminemia has been mainly described in Japanese patients. This ‘classical’ phenotype consists of cerebellar ataxia, hyperkinetic movement disorders and cognitive decline. In this study we describe the spectrum of neurological disease in Caucasian patients. Methods Data on…
Genome-wide analysis identifies potentially causative genes explaining the phenotypic variability in Pinzirita sheep
2019
Genome-wide analysis identifies potentially causative genes explaining the phenotypic variability in Pinzirita sheep
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
2019
Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. Methods: We analyzed quantitative clinical information, exome sequencing, and microarray data from 757 probands and 233 parents and siblings who carry disease-associated variants. Results: The number of rare likely deleterious variants in functionally intolerant genes (“other hits”) correlated with expression of neurodevelopmental phenotypes in probands with 16p12.1 deletion (n=23, p=0.004) and in autism probands carrying gene-disruptive variants (n=184, p=0.03) compared with thei…
Phenotypic variability and disparities in treatment and outcomes of childhood arthritis throughout the world: an observational cohort study
2019
Made available in DSpace on 2019-10-05T16:54:20Z (GMT). No. of bitstreams: 0 Previous issue date: 2019-04-01 IRCCS Istituto Giannina Gaslini Background To our knowledge, the characteristics and burden of childhood arthritis have never been studied on a worldwide basis. We aimed to investigate, with a cross-sectional study, the prevalence of disease categories, treatment methods, and disease status in patients from across different geographical areas and from countries with diverse wealth status. Methods In this multinational, cross-sectional, observational cohort study, we asked international paediatric rheumatologists from specialised centres to enrol children with a diagnosis of juvenile …
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
2004
Contains fulltext : 48815.pdf (Publisher’s version ) (Closed access) Opitz syndrome (OS; MIM 145410 and MIM 300000) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal (LTE) abnormalities, imperforate anus, developmental delay, and cardiac defects. The X-linked form (XLOS) is caused by mutations in the MID1 gene, which encodes a microtubule-associated RBCC protein. In this study, phenotypic manifestations of patients with and without MID1 mutations were compared to determine genotype-phenotype correlations. We detected 10 novel mutations, 5 in familial cases, 2 in sporadic cases, and 3 in families for whom it …
Variation in pheno-morphological and agronomic traits among burr medic (Medicago polymorpha L.) populations collected in Sicily, Italy
2010
The present study assessed the diversity of pheno-morphological and agronomic traits among 31 natural populations of burr medic (Medicago polymorpha L.) from different environments throughout Sicily, and analysed the patterns of phenotypic diversity in relation to the environmental parameters of each collection site. Three commercial cultivars (Cavalier, Santiago, and Anglona) were also included in the study as check cultivars. Two field experiments were performed in 2005–06 in a hilly area of the Sicilian inland. Principal components analysis (PCA) was performed on the sites using geographic, climatic, and pedological data to assess the differences in types of collection sites. PCA was al…
Caractérisation expérimentale de la variabilité phénotypique du système racinaire nodulé de génotypes contrastés de pois (Pisum sativum L.), en phase…
2013
One of the challenges in plant breeding pea is to offer adapted genotypes to non-optimal environmental conditions. One of the factors limiting the agronomic performance of the pea is related to the environment plant sensitivity. Nodulated root system traits determine this sensitivity. The characterization of phenotypic traits combinations of the nodulated root system in different peas genotypes is interesting to suggest new plant breeding traits. The objective of this work was to experimentally characterize the phenotypic variability of the nodulated root system of 10 pea genotypes. The analysis was conducted under controlled conditions. The plants were grown in the absence of nitrates. Phe…
Seasonality of intra-specific cell size in the phytoplankton of Lake Kinneret
2015
A distinct pattern of seasonal fluctuations in intra-specific cell size and/or colony size was observed in a large number of phytoplankton species from Lake Kinneret, Israel. The same species showed larger cell size or colony size in late winter and smaller size in late summer, with intermediate sizes in the interim periods. This phenomenon was exhibited by species of chlorophytes, dinoflagellates and cyanobacteria that were abundant enough to be sampled (fortnightly) and measured throughout the year. The annual pattern of fluctuations in size repeated itself over 8 consecutive years (2004-2012). The size fluctuations were independent of the temporal changes observed in cell abundance of ea…