Results 61 to 70 of about 443 (224)

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Stability analysis of beck’s column over a fractional-order hereditary foundation [PDF]

, 2018
This paper considers the case of Beck’s column resting on a hereditary bed of independent springpots. The springpot possesses an intermediate rheological behaviour among linear spring and linear dashpot.
Bologna, E., Zingales, M.
core   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Modeling and parameter estimation for fractional large‐scale interconnected Hammerstein systems

Asian Journal of Control, EarlyView.
Abstract This paper addresses the challenge of modeling and identifying large‐scale interconnected systems exhibiting memory effects, hereditary properties, and non‐local interactions. We propose a fractional‐order extension of the Hammerstein architecture that incorporates Grünwald–Letnikov operators to capture complex dynamics through multiple ...
Mourad Elloumi, Omar Naifar, Imed Bouzida   +2 more
wiley   +1 more source

Adapting semi-analytical treatments to the time-fractional derivative Gardner and Cahn-Hilliard equations

Alexandria Engineering Journal
This paper used the flexible and efficient least squares residual power series method (LSRPSM) to solve the time-fractional derivative Cahn-Hilliard and Gardener equations. The LSRPSM combines the residual power series method (RPSM) and the least squares
A. Hassan, A.A.M. Arafa, S.Z. Rida, M.A. Dagher, H.M. El Sherbiny   +4 more
doaj   +1 more source

Influence of oxidative stress on women’s fertility: A model with a generational age Caputo’s fractional derivative

Cellular aging associated with telomeric shortening plays an important role in female fertility. In addition to natural decline, due to the loss of telomeric repeats during cell division, other factors such oxidative stress (OS), accelerate telomere ...
García Velasco, Juan Antonio, Portillo de la Fuente, Ana María, Varela, Elisa   +2 more
core   +1 more source

A numerical method for solving Caputo’s and Riemann-Liouville’s fractional differential equations which includes multi-order fractional derivatives and variable coefficients

, 2020
RESUMEN: Trabajo en investigacion sobre solucion de ecuaciones diferenciales de Riemann-Liouville y Caputo. Publicado en revista ELSEVIER.ABSTRACT: In this paper, a numerical method is developed to obtain a solution of Caputo’s and Riemann-Liouville’s ...
Betancur Herrera, David Esteban
core  

Environmental Disclosure Under Mandatory Regulation in EU Listed Companies: An Institutional Analysis

Business Strategy and the Environment, EarlyView.
ABSTRACT This study examines corporate environmental reporting practices among listed companies in the European Union during the period 2018–2022, within the context of the Non‐Financial Reporting Directive (NFRD). To this end, an Environmental Disclosure Index (EDI) is constructed based on qualitative reporting items, and panel‐data models are ...
Rosalva Pinto‐Braga, Pedro Lorca Fernández, Javier de Andrés Suárez   +2 more
wiley   +1 more source