Results 131 to 140 of about 270,832 (337)

Control of foot-and-mouth disease [PDF]

, 2011
Honhold, N., Hullinger, P., Kitching, P., Mansley, S., Taylor, Nick, Thrusfield, M., Wingfield, A.   +6 more
core   +1 more source

De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Liprin‐α2, encoded by PPFIA2, belongs to the family of Liprin‐α proteins which constitute major synaptic scaffolds participating in the assembly and maturation of synapses. Heterozygous de novo variants in PPFIA2 were identified by exome or genome sequencing in two unrelated individuals with a neurodevelopmental disorder.
Theresa Brunet, Michael Zech, Ulrich A. Schatz, Miriam Adamovičová, Matias Wagner, Elisabeth Graf, Riccardo Berutti, Heike Weigand, Robert Jech, Thomas Meitinger, Juliane Winkelmann, Melanie Brugger   +11 more
wiley   +1 more source

An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S. Arterbery, Anita M. Bagley, Michael A Gargano, Jeremy P Bauer, Daniel Danis, Philip Giampietro, Ellen Raney, Lauren Rekerle, Mallory Shingle, Jon R. Davids, Peter N. Robinson   +12 more
wiley   +1 more source

Structures of foot and mouth disease virus pentamers: Insight into capsid dissociation and unexpected pentamer reassociation

, 2017
N. N. Malik, Abhay Kotecha, Sarah Gold, Amin S. Asfor, Jingshan Ren, Juha T. Huiskonen, Tobias J. Tuthill, Elizabeth E. Fry, David I. Stuart   +8 more
openalex   +1 more source

Peer Review #2 of "Antiviral efficacy of short-hairpin RNAs and artificial microRNAs targeting foot-and-mouth disease virus (v0.2)"

, 2021

openalex   +2 more sources

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Oral Administration of Zinc Sulfate with Intramuscular Foot-and-Mouth Disease Vaccine Enhances Mucosal and Systemic Immunity

Vaccines
Background/Objectives: Foot-and-mouth disease (FMD) remains a significant global threat to livestock farming. Current commercial FMD vaccines present several challenges, including the risk of infection and adverse injection site reactions due to oil ...
Min Ja Lee, Seokwon Shin, Hyeong Won Kim, Mi-Kyeong Ko, So Hui Park, Su-Mi Kim, Jong-Hyeon Park   +6 more
doaj   +1 more source

An atypical winter outbreak of hand, foot, and mouth disease associated with human enterovirus 71, 2010 [PDF]

, 2014
Nan Liu, Jing Xie, Xiaoli Qiu, Leili Jia, Zhihao Wu, Yuhua Ma, Zhongqiang Wang, Peng Li, Xingbin Ren, Rongzhang Hao, Ligui Wang, Yong Wang, Shaofu Qiu, Hongbin Song   +13 more
openalex   +1 more source

FMD in Cambodia: how to improve surveillance in a challenging environment? [PDF]

, 2012
Introduction Eradication of foot-and-mouth disease (FMD) is the main objective of the South East Asia China Foot-and-Mouth Disease (SEACFMD) campaign led by the OIE.
Bellet, Camille, Goutard, Flavie, Grosbois, Vladimir, Holl, Davun, Roger, François, Vergne, Timothée   +5 more
core  

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source