Results 261 to 270 of about 22,111,810 (336)

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D. M. Van Karnebeek, Cornelius F. Boerkoel, Stephanie Huynh, Gabriella Horvath, S. R. Wayne Chen, Anna Lehman   +9 more
wiley   +1 more source

Dupilumab Beyond the Airway: Decreased Morbidity in a Real‐World Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Post hoc analyses of clinical trials have characterized dupilumab's adverse effects, yet the real‐world impact in chronic rhinosinusitis with nasal polyps (CRSwNP) and asthma is not well described. This study aims to characterize the risks of lymphoma, cardiovascular events, eosinophilia, joint pain, inflammatory arthritis, and ...
Emma J. Anisman, Spencer Short, Emma Tam, Benjamin F. Bitner, Abdulghafoor Alani, Marc Rosen, Mindy Rabinowitz, Damaris Pena Evertz, Elina Toskala, Gurston G. Nyquist   +9 more
wiley   +1 more source

Can mid-semester examinations predict outcomes of final examinations when mature adult learners participate in different modes of on-line learning? [PDF]

, 2011
Low Choy, Nancy, Lynch, Mary, Milne, Nikki, Pahoff, Michael, Steele, Michael   +4 more
core  

Establishment of a biosafe murine model of skeletal tuberculosis using Mycobacterium smegmatis

Animal Models and Experimental Medicine, EarlyView.
This study developed a biosafe, accessible, and versatile murine model of bone TB using Mycobacterium smegmatis, a fast‐growing, nonpathogenic mycobacterial species with high genomic homology to Mycobacterium tuberculosis. Three infection routes—subperiosteal calvarial injection, intratibial injection, and intracardiac (left ventricular) inoculation ...
Yewei Jia, Yuhuai Guo, Yusheng Yang, Jie Zhang, Ziyang Zhang, Ying Qu, Jiulin Tan, Jie Shen, Nathachit Limjunyawong, Jianzhong Xu, Zehua Zhang, Fei Luo, Ce Dou   +12 more
wiley   +1 more source

Effect of a 3-week intensive therapy intervention on physical performance of children with neurological conditions: a case study series [PDF]

, 2017
Doyle, Nicole, MacFarlane, Clare, Milne, Nikki   +2 more
core  

An in vivo assay for osteoclast activity using mouse calvaria

Animal Models and Experimental Medicine, EarlyView.
This study describes a novel method for measuring osteoclast‐mediated bone resorption in vivo using a mouse model. Localized injection of RANKL in a basement membrane matrix above the cranium induced osteoclast‐mediated bone resorption. Utilizing micro‐computed tomography and a semiautomated three‐dimensional analysis program, osteoclast resorption pit
Christopher Grieg, Maya Deza Culbertson, J. Patrick O'Connor   +2 more
wiley   +1 more source

Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas

Annals of Neurology, EarlyView.
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek, David F. Hanff, Pim J. French, Sarah A. van Dijk, Erik A.C. Wiemer, Olivier C. Manintveld, Martin J. van den Bent, Walter Taal   +7 more
wiley   +1 more source

Lagomorph cranial biomechanics and the functional significance of the unique fenestrated rostrum of leporids

The Anatomical Record, EarlyView.
Abstract The crania of leporid lagomorphs are uniquely fenestrated, including the posterior cranial bones and the lateral portion of the maxilla. The functional significance of the highly fenestrated rostrum has received considerably little attention, despite being absent in other mammalian herbivores with a long rostrum.
Amber P. Wood‐Bailey, Alana C. Sharp
wiley   +1 more source