Results 221 to 230 of about 305,884 (298)

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani, John Boscardin, Billie R. Lianoglou, Katie Tick, Carmen M. A. Santoli, Kristen A. Miller, Angie C. Jelin, Lorraine Dugoff, Rose Giardine, Cori Feist, Rachel Pilliod, Stephanie Dukhovny, Kelly Gilmore, Neeta L. Vora, Aisling Murphy, Peter N. Robinson, Mary E. Norton, Teresa N. Sparks   +17 more
wiley   +1 more source

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

Pediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo, Yidan Liu, Danyu Song, Shiqi Yang, Xiaona Fu, Lin Ge, Cuijie Wei, Liya Cui, Yanbin Fan, Huaxia Luo, Yanwei He, Jin Xu, Qiang Shen, Yuxuan Guo, Motoi Kanagawa, Tatsushi Toda, Jingmin Wang, Hong Zhang, Hui Xiong   +18 more
wiley   +1 more source

Genomic epidemiology uncovers the origin of the mpox epidemic in Sierra Leone

Campbell AK, Sandi JD, Omah IF, Faye M, Parker E, Brock-Fisher T, Gigante CM, Folorunso V, Kamara MS, Williams AJ, Kane M, Kallon TMPS, Campbell JS, Sesay KS, Mani SY, Miller C, Daniel-Sesay N, Baimba F, Ndiaye M, Lansana R, Fofanah IU, Ruhweza S, Souma Z, Kargbo A, Koninga K, Tia A, Ngobeh J, Thoronka F, Fofanah A, Ozonoff A, Wilkason C, Park DJ, Tomkins-Tinch CH, Paye MF, Shin C, Baudi I, Blumenstiel B, Varilly P, Specht I, Fry B, Zhao K, Cronan P, Laning E, Ope-ewe OO, Sijuwola AE, Saibu F, Soumare H, Ogundana EK, Adole JA, Kio IK, Njeandoh FA, Tuttle A, Oguta W, Greene J, Koroma A, Kanu JS, Barry MA, Gaye A, Diouf AM, Hughes C, Levy JI, Njai A, DIAGNE MM, Nosamiefan D, Ameh G, Klena JD, Foster MA, Kebede A, Tanui C, Diallo B, Happi A, Tessema S, Sow A, Kebede Y, Wurie I, Squire J, Harding D, Koroma Z, Jalloh MB, Sall AA, Andersen KG, Rambaut A, Vandi MA, Fall IS, Sabeti P, Happi C, Sahr F, Grant DS.   +87 more
europepmc   +1 more source

Genomic epidemiology analysis of extremely drug-resistant tuberculosis in Shanghai, China. [PDF]

Emerg Microbes Infect
Lu X, Jiang Y, Liu Y, Chen J, Lao Y, Li J, Zhang Y, Li N, Wang L, Yu C, Ye Q, Wei W, Deng J, Shen X, Yang C.   +14 more
europepmc   +1 more source

Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives

Pediatric Investigation, EarlyView.
Newborn screening shifts from biochemical to genetic methods. Global exploration is promising but requires overcoming challenges and international collaboration to optimize implementation. ABSTRACT Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early ...
Zhelan Huang, Wenhao Zhou
wiley   +1 more source

Genomic epidemiology reveals statewide dispersal of clinical Shiga toxin-producing <i>Escherichia coli</i> and their antimicrobial resistome. [PDF]

Microbiol Spectr
Buiatte ABG, Marmion M, Choudhury ST, Costa LRM, Ikhimiukor OO, Wirth SE, Musser KA, Mingle LA, Andam CP.   +8 more
europepmc   +1 more source

Characteristics of fungicide resistance in Asian soybean rust (Phakopsora pachyrhizi) in Paraguay for 2022–2023: insights from genetic mutations and molecular dynamics simulations

Pest Management Science, EarlyView.
Phakopsora pachyrhizi in Paraguay showed diverse resistance to DMI, SDHI, and QoI fungicides at both regional and intra‐field levels, likely driven by target mutation genes. Abstract BACKGROUND Phakopsora pachyrhizi, the causative agent of Asian soybean rust, poses a major threat to soybean production in South America. The rising incidence of fungicide
Ryusuke Hagihara, Ryo Okada, Takuya Hayashi, Hideaki Tateishi, Wilfrido Morel, Naoki Yamanaka   +5 more
wiley   +1 more source

Genomic epidemiology of Klebsiella pneumoniae neonatal and infant sepsis in Kenyan hospitals

Amulele AV, Orindi B, Ndumba M, Tigoi C, Omuoyo D, Kahindi E, Gumbi W, Ndwiga L, Timbwa M, Manyasi C, Kombo A, Obiero C, Webster H, Stoesser N, Scott JAG, Berkley JA.   +15 more
europepmc   +1 more source

Genomic Epidemiology of ESBL- and Carbapenemase-Producing Enterobacterales in a Spanish Hospital: Exploring the Clinical-Environmental Interface. [PDF]

Microorganisms
Martínez-Álvarez SA, Asencio-Egea MÁ, Huertas-Vaquero M, Cardona-Cabrera T, Zarazaga M, Höfle U, Torres C.   +6 more
europepmc   +1 more source

What are the vector species of the Oropouche virus?

Pest Management Science, EarlyView.
Here, we review the timeline of Oropouche virus (OROV) detection in various hematophagous Diptera, from 1955 to date, including mosquitoes and midges. All vector competence experiments also are described. The results suggest that Culicoides are the primary vectors.
Constância Flávia Junqueira Ayres, Bruna Lais Sena do Nascimento, Daniele Barbosa de Almeida Medeiros, Joaquim Pinto Nunes Neto   +3 more
wiley   +1 more source