Articles with "genetic characterization" as a keyword



Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia

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Published in 2023 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.51724

Abstract: NIPA1 mutations have been implicated in hereditary spastic paraplegia (HSP) as the cause of spastic paraplegia type 6 (SPG6). The aim of this study was to investigate the clinical and genetic features of SPG6 in… read more here.

Keywords: spastic paraplegia; paraplegia; hereditary spastic; genetic characterization ... See more keywords
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Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion

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Published in 2022 at "International Journal of Developmental Neuroscience"

DOI: 10.1002/jdn.10231

Abstract: Neurodevelopmental disorders (NDDs) are heterogeneous genetic conditions of the central nervous system (CNS). Primary phenotypes of NDDs include epilepsy, loss of developmental skills, abnormal movements, muscle weakness, ocular anomalies, hearing problems, and macro‐ or microcephaly.… read more here.

Keywords: neurodevelopmental disorders; minpp1 ngly1; kptn minpp1; genetic characterization ... See more keywords
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Genetic characterization of human metapneumovirus identified through community and facility‐based surveillance of infants in Dhaka, Bangladesh

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Published in 2019 at "Journal of Medical Virology"

DOI: 10.1002/jmv.25351

Abstract: Acute respiratory infection (ARI) is a leading cause of morbidity and mortality in children in low and middle‐income countries. Human metapneumovirus (hMPV) is one of the most common viral etiological agents for ARIs in children. read more here.

Keywords: metapneumovirus identified; identified community; characterization human; metapneumovirus ... See more keywords
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Genetic characterization of P[8] rotavirus strains circulated in Iran between 2009 and 2017

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Published in 2022 at "Journal of Medical Virology"

DOI: 10.1002/jmv.27766

Abstract: Group A rotavirus (RVA) is the most common cause of acute gastroenteritis worldwide, which is responsible for causing an estimated 120 000 deaths in children under 5 years of age, which mostly occur in the lower‐income… read more here.

Keywords: circulated iran; rotarixtm rotateqtm; genetic characterization; rotavirus ... See more keywords
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Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia

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Published in 2022 at "Movement Disorders"

DOI: 10.1002/mds.29015

Abstract: Ataxia with oculomotor apraxia (AOA) is characterized by early‐onset cerebellar ataxia associated with oculomotor apraxia. AOA1, AOA2, AOA3, and AOA4 subtypes may present pathogenic variants in APTX, SETX, PIK3R5, and PNKP genes, respectively. Mutations in… read more here.

Keywords: oculomotor; characterization brazilian; ataxia oculomotor; genetic characterization ... See more keywords
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First isolation, identification and genetic characterization of Brucella abortus biovar 3 from dairy cattle in Bangladesh

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Published in 2019 at "Veterinary Medicine and Science"

DOI: 10.1002/vms3.193

Abstract: Abstract Background Brucellosis is a zoonotic disease caused by bacteria Brucella spp. belonging to the genus Brucella. It is endemic in domesticated animals in Bangladesh. Isolation, identification and genetic characterization of Brucella spp. in dairy… read more here.

Keywords: isolation; brucella; genetic characterization; dairy cattle ... See more keywords
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Phylogenetic and genetic characterization of influenza A H9N2 viruses isolated from backyard poultry in selected farms in Ghana.

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Published in 2022 at "Veterinary medicine and science"

DOI: 10.1002/vms3.809

Abstract: INTRODUCTION Avian influenza viruses (AIV) cause significant economic losses to poultry farmers worldwide. These viruses have the ability to spread rapidly, infect entire poultry flocks, and can pose a threat to human health. The National… read more here.

Keywords: poultry; phylogenetic genetic; influenza viruses; influenza ... See more keywords
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Genetic characterization of Cacipacoré virus from ticks collected in São Paulo State, Brazil

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Published in 2017 at "Archives of Virology"

DOI: 10.1007/s00705-017-3279-3

Abstract: Cacipacoré virus (CPCV) is a potential emerging virus classified in the genus Flavivirus, family Flaviviridae. In the present study, we present the genetic characterization of a CPCV isolated from ticks (Amblyomma cajennense) collected from a… read more here.

Keywords: cacipacor virus; state brazil; paulo state; virus ... See more keywords
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Identification and genetic characterization of porcine circovirus 3 on pig farms in Serbia

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Published in 2019 at "Archives of Virology"

DOI: 10.1007/s00705-019-04455-y

Abstract: Backgroud The presence of PCV3 genome has been detected in pigs affected by different clinical and pathological conditions as well as in healthy animals. Its presence has been reported in many countries of North and… read more here.

Keywords: pig; identification genetic; presence; pcv ... See more keywords
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Geographic distribution and genetic characterization of poxviruses from human infections in Georgia, 2009–2014

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Published in 2021 at "Archives of Virology"

DOI: 10.1007/s00705-020-04922-x

Abstract: Anthrax is endemic in Georgia, as are multiple zoonotic poxviruses. Poxvirus-associated infections share some clinical manifestations and exposure risks with anthrax, and so it is important to distinguish between the two. With this in mind,… read more here.

Keywords: distribution genetic; characterization poxviruses; georgia; infections georgia ... See more keywords
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Genetic characterization of Iranian grapes (Vitis vinifera L.) and their relationships with Italian ecotypes

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Published in 2017 at "Agroforestry Systems"

DOI: 10.1007/s10457-017-0134-1

Abstract: Grapevine (Vitis vinifera L.) is one of the oldest and most important fruit crops in the world. Iran is considered as one of the regions where grapevine plants have been used and taken into cultivation.… read more here.

Keywords: iranian grapes; characterization iranian; vitis vinifera; relationships italian ... See more keywords