Results 141 to 150 of about 194,130 (263)

Emergence and evolution of epizootic hemorrhagic disease virus in the Mediterranean region: spatio-temporal dynamics and epidemiological insights. [PDF]

Front Vet Sci
Arbi M, Harigua-Souiai E, Hanachi M, Larbi I, Chaouch M, Rjaibi D, Diouani MF, Benkahla A, Souiai O.   +8 more
europepmc   +1 more source

Epizootic Hemorrhagic Disease Virus Serotype 8, Italy, 2022. [PDF]

Emerg Infect Dis, 2023
Lorusso A, Cappai S, Loi F, Pinna L, Ruiu A, Puggioni G, Guercio A, Purpari G, Vicari D, Sghaier S, Zientara S, Spedicato M, Hammami S, Ben Hassine T, Portanti O, Breard E, Sailleu C, Ancora M, Di Sabatino D, Morelli D, Calistri P, Savini G.   +21 more
europepmc   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Seroprevalence and associated risk factors of epizootic hemorrhagic disease virus in cattle from the northern region of Peru: first serological report. [PDF]

J Vet Med Sci
Ponce K, Jurado J, Ramirez M, Vargas-Rocha L, Navarro-Mamani DA.   +4 more
europepmc   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

High seroprevalence and age-associated dynamics of bluetongue and epizootic hemorrhagic disease viruses in North American bison (<i>Bison bison</i>). [PDF]

Front Vet Sci
Krus C, Zander I, Sherman TJ, Maichak C, Buttke DE, Jones L, Mayo C.   +6 more
europepmc   +1 more source

First detection and molecular characterization of rabbit hemorrhagic disease virus (RHDV) in Algeria. [PDF]

Front Vet Sci, 2023
Sahraoui L, Lahouassa H, Maziz-Bettahar S, Lopes AM, Almeida T, Ainbaziz H, Abrantes J.   +6 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Epidemiological, serological, and viral genomic analysis of an outbreak of elephant hemorrhagic disease in Switzerland. [PDF]

PLoS One
Ackermann M, Kubacki J, Heaggans S, Hayward GS, Lechmann J.   +4 more
europepmc   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source