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Inferring parental gonadal mosaicism in LMNA-associated muscular dystrophy by ultra-deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling
(Wiley-liss, div John Wiley & Sons Inc., 2019-03)
Nuclear laminopathies are a group of human genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina. Among them, mutations in LMNAcause diverse phenotypes. De novo LMNA variants have been ...
Assessing the most irreplaceable protected areas for the conservation of mammals in the Atlantic Forest: Lessons for the governance of mosaics
(Multidisciplinary Digital Publishing Institute, 2019-05-29)
We have gathered 21,353 records of 40 different medium- and large-sized species of mammals existing in the Atlantic Forest conservation units of Brazil, including full protection and sustainable use types of management. ...
Somatic/Germinal Mosaicism of a F8 Promoter Deletion Confounds Clinical Predictions in a Family with Haemophilia A: Key Role of Genotype Quantitation
(Thieme Medical Publ Inc, 2018-03)
Large F8 deletions cause 10-15% of severe-Haemophilia A (HA) cases and associate with the highest clinical/biochemical severity and with significantly augmented risks for developing inhibitors against therapeutic FVIII. ...
Improvement of conditional Cre-lox system through application of the regulatory sequences from Cowpea mosaic virus
(Springer, 2018-04)
To study the impact of regulatory sequences from Cowpea mosaic virus (CPMV) on Cre-mediated recombination rates, the cre gene was flanked by the 5′ non-translated and 3′ non-translated regions of CPMV. This cre configuration ...
Relative incidence of cucurbit viruses and relationship with bio-meteorological variables
(Springer, 2020-02)
Environmental heterogeneity can shape the plant-virus relationship, furthering the appearance of new diseases in crops, or altering disease incidence and severity. In this work, we studied the virus association with ...
Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism
(Elsevier, 2014-05)
In genetics, the term mosaicism describes the situation in which groups of cells have a different genetic composition to other cells in an organism. Somatic gene rearrangements due to multiplication or deletion of genes ...
Virosis en zapallito de tronco
(EEA San Pedro, INTA, 2022)
Las principales virosis que afectan al zapallito
redondo son las producidas por virus del género
Potyvirus. Hay 4 especies de este grupo presentes en
Argentina, estos son: Watermelon mosaic virus
(WMV), Zucchini yellow ...
Structural mosaicity and electrical properties of pyrolitic SnO2:F thin films
(Elsevier Science SA, 2013-03)
In this work we present structural and electrical properties of SnO2:F thin films deposited on glass substrate by the spray pyrolysis technique. The precursors of SnO2:F were synthesized by a sol?gel method, starting from ...
Cucumber mosaic virus infecting ‘Cavendish’ banana in Argentina
(Springer, 2018-12)
Banana plants (Musa sp.) showing severe mosaic symptoms in leaves were observed in Laguna Naineck, Formosa, Argentina. Electron microscopy observations of leaf dip preparations revealed isometric particles ca. 30 nm in ...
Parkinson’s Disease in a Patient with 22q11.2 Deletion Syndrome: The Relevance of Detecting Mosaicisms by Means of Cell-By-Cell Evaluation Techniques
(OMICS, 2015-12)
We report the case of a male patient from an Ashkenazi Jewish ethnic group with a history of midline defects (congenital heart disease, high-arched palate and bifid uvula). At the age of 46 years, he came to our center ...