102,192 research outputs found
The role of cardiovascular imaging for myocardial injury in hospitalized COVID-19 patients
No full textThis is a pre-copyedited, author-produced version of an article accepted for publication in European Heart Journal - Cardiovascular Imaging, following peer review. The version of record: Bernard Cosyns, Stijn Lochy, Maria Luiza Luchian, Alessia Gimelli, Gianluca Pontone, Sabine D Allard, Johan de Mey, Peter Rosseel, Marc Dweck, Steffen E Petersen, Thor Edvardsen, on behalf of the European Association of Cardiovascular Imaging (EACVI), The role of cardiovascular imaging for myocardial injury in hospitalized COVID-19 patients, European Heart Journal - Cardiovascular Imaging, Volume 21, Issue 7, July 2020, Pages 709–714, https://doi.org/10.1093/ehjci/jeaa136
is available online at: https://doi.org/10.1093/ehjci/jeaa13
CENP-G in neocentromeres and inactive centromeres
No full textCENP-G is a novel constitutive centromere-specific protein localized to the kinetochore inner plate and subjacent region. It has been identified as associating specifically with the α-1 subfamily of α-satellite DNA. In the present work, the localization of CENP-G was compared with that of other CENPs by immunofluorescence and fluorescence in situ hybridization. Studies were carried out on four abnormal human centromeres:
two neocentromeres and two inactive centromeres.
CENP-G was detected in one of the two inactive centromeres but not in the other that shows a partial deletion of the alphoid DNA. Interestingly, CENP-G is also present in neocentromeres, which lack alphoid DNA sequences, and in the human Y chromosome, which lacks the α-1 type of satellite DNA. These data provide further evidence that CENP-G may be an essential factor in cen-
tromeric function and that in centromeres lacking the α-1 subfamily of alphoid DNA, other DNA sequences are able to bind CENP-G
A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines.
No full textA 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies.
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Molecular cytogenetic characterization of the first reported case of an inv dup (4p)(p15.1-pter) with a concomitant 4q35.1-qter deletion and normal parents.
No full textArray-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation
No full textIdentification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.
No full textIdentification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis
No full textA t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeltion syndromes.
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