Results 121 to 130 of about 5,769,599 (338)

Developmental hypomyelination in Wolfram syndrome: New insights from neuroimaging and gene expression analyses [PDF]

, 2019
Wolfram syndrome is a rare multisystem disorder caused by mutations in WFS1 or CISD2 genes leading to brain structural abnormalities and neurological symptoms. These abnormalities appear in early stages of the disease.
Dougherty, Joseph, Hershey, Tamara, Marshall, Bess, Neyman, Olga, Park, Ki Yun, Rahn, Rachel, Samara, Ahmad, Samara, Amjad   +7 more
core   +1 more source

Role of imaging in the diagnosis and management of complete androgen insensitivity syndrome in adults [PDF]

, 2013
Complete androgen insensitivity syndrome is an X-linked recessive androgen receptor disorder characterized by a female phenotype with an XY karyotype.
De Visschere, Pieter, Nezzo, Marco, T'Sjoen, Guy, Villeirs, Geert, Weyers, Steven   +4 more
core   +4 more sources

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis

Case Reports in Genetics
Nonsyndromic hereditary thoracic aortic aneurysm and dissection (TAAD) is an autosomal dominant disease; however, it is frequently difficult to identify the causative genes.
Daigo Nishijo, Hiroki Yagi, Nana Akiyama, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Norihiko Takeda, Issei Komuro   +7 more
doaj   +1 more source

Codes on Key Errors

Cybernetics and Information Technologies, 2014
Coding theory has started with the intention of detection and correction of errors which have occurred during communication. Different types of errors are produced by different types of communication channels and accordingly codes are developed to deal ...
Das P. K.
doaj   +1 more source

A Case Report of Marfan Syndrome with Literature Review [PDF]

, 2015
Marfan syndrome(MFS) is a connective tissue disorder that affects multiple organ systems. Cardiovascular, ocular, and skeletal abnormalities are cardinal features of the syndrome. Its incidence is among the highest of any heritable disorder.Most patients
Kalla, H. K. (Hemanth), kumari, S. (Swarna), parthasarathy, M. (MKR), rao, C. R. (CH), reddy, S. S. (S), Revathi, M. (M)   +5 more
core  

Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]

, 2015
Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz, CONTESTABILE, Maria Teresa, FAMELI, VALERIA, Mollo, Roberto, Perdicchi, Andrea, RECUPERO, Santi Maria   +5 more
core   +3 more sources

SARS‐CoV‐2 Is Linked to Brain Volume Loss in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The impact of SARS‐CoV‐2 infection on brain and spinal cord pathology in patients with multiple sclerosis (pwMS) remains unclear. We aimed to describe changes in brain lesion activity and brain and spinal cord volumes following SARS‐CoV‐2 infection.
Tomas Uher, Dominika Stastna, Ingrid Menkyova, Vaclav Capek, Jiri Lindner, Petra Nytrova, Jan Krasensky, Eliza Varju, Miguel D'haeseleer, Eva Kubala Havrdova, Dana Horakova, Manuela Vaneckova, Niels Bergsland   +12 more
wiley   +1 more source

Breastfeeding in children with down syndrome

BMC Pediatrics
Introduction Babies with Down syndrome (DS) present physical characteristics that can make breastfeeding difficult, including hypotonia of the muscles of the oral cavity and pharynx which can create problems with sucking and swallowing. Breastfeeding has
Alejandra Ochoa Rodríguez, Silvestre García de la Puente, Karla Adney Flores Arizmendi, Tania Tonantzin Vargas Robledo   +3 more
doaj   +1 more source

Role of genetic in periodontal disease

Journal of International Clinical Dental Research Organization, 2017
Genetics is the study and understanding of the phenomena of heredity and variation. A large number of genes are associated with many systemic conditions. Periodontitis is inflammatory condition of periodontium.
Anand Narayanrao Wankhede, Sayli Anand Wankhede, Shilpa Prashant Wasu   +2 more
doaj   +1 more source