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Unified mathematical formulation of monogenic phase congruency
(Mathematics, 2022)
Identification and quantification of oligogenic loss-of-function disorders
(2021)
Purpose: Monogenic disorders can present clinically heterogeneous symptoms. We hypothesized that in patients with a monogenic disorder caused by a large deletion, frequently additional loss-of-function (LOF)-intolerant ...
The cohomology of monogenic extensions in the noncommutative setting
(Academic Press Inc Elsevier Science, 2008-06)
We extend the notion of monogenic extension to the noncommutative setting, and we study the Hochschild cohomology ring of such an extension. As an application we complete the computation of the cohomology ring of the rank ...
Monogenic volcanoes of Patagonian back-arc province, southern Argentina
(The Geological Society of Japan, 2003-12)
In the southern Andes back-arc, behind the South Volcanic Zone (SVZ) and Austral Volcanic Zone (AVZ), hundreds of monogenic basaltic volcanoes took place, forming numerous cinder cones and lava flows.
Cyclic homology of monogenic extensions in the noncommutative setting
(Academic Press Inc Elsevier Science, 2009-01-15)
We study the Hochschild and cyclic homology of noncommutative monogenic extensions. As an application we compute the Hochschild and cyclic homology of the rank 1 Hopf algebras introduced in [L. Krop, D. Radford, Finite ...
Screening of monogenic obesity gene MC4R in Brazilian patients with morbid obesity
(Fiocruz/Instituto de Tecnologia em Imunobiológicos, 2018)
Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil
(Frontiers Media, 2022)
Identification and quantification of oligogenic loss-of-function disorders
(2021)
Purpose: Monogenic disorders can present clinically heterogeneous symptoms. We hypothesized that in patients with a monogenic disorder caused by a large deletion, frequently additional loss-of-function (LOF)-intolerant ...
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.
(Wiley, 2023)
BACKGROUND: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of ...
The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome
(W.B. Saunders Ltd, 2019)
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that is caused by mutations in the MECP2 gene; however, defects in other genes (CDKL5 and FOXG1) can lead to presentations that resemble classic RTT, although ...