Results 61 to 70 of about 4,046,080 (225)

Decision tree analysis as a preliminary evidence‐based tool for identifying the syndrome of undifferentiated recurrent fever in children compared with hereditary recurrent fevers and periodic fever, aphthosis, pharyngitis and adenitis syndrome

Arthritis &Rheumatology, Accepted Article.
Objective To develop evidence‐based criteria to classify SURF patients. Methods 112 SURF patients followed in a single tertiary referral center were analyzed. Patients with genetically confirmed hereditary recurrent fever (HRF) or with periodic fever, aphthosis, pharyngitis and adenitis (PFAPA) syndrome already analyzed for the Eurofever classification
Riccardo Papa, Francesca Bovis, Silvia Federici, Serena Palmeri, Marta Bustaffa, Giada Recchi, Roberta Bertelli, Roberta Caorsi, Stefano Volpi, Sabrina Fuehner, Veysel Cam, Anna Kozáková, Šárka Horáčková Fingerhutová, Antonella Insalaco, Dirk Foell, Seza Ozen, Isabella Ceccherini, Marco Gattorno, on behalf of the Eurofever study group for the Classification criteria of recurrent fevers and PerSAID project, Michael Hofer, Federica Vanoni, Jordi Anton, Juan Ignacio Arostegui, Karyl S. Barron, Eldad Ben‐Chetrit, Paul Brogan, Luca Cantarini, Isabella Ceccherini, Fabrizio De Benedetti, Fatma Dedeoglu, Erkan Demirkaya, Joost Frenke, Raphaela Goldbach‐Mansky, Ahmet Gul, Veronique Hentgen, Hal M. Hoffman, Tilmann Kallinich, Isabelle Koné‐Paut, Jasmin Kuemmerle‐Deschner, Helen J. Lachmann, Ronald M. Laxer, Avi Livneh, Laura Obici, Dorota Rowczenio, Ricardo Russo, Yael Shinar, Anna Simon, Natasa Toplak, Isabelle Touitou, Yosef Uziel, Marielle van Gijn, Daniel L. Kastner, Alberto Martini, Maria Pia Sormani, Nicolino Ruperto   +54 more
wiley   +1 more source

An account on the taxonomy and molecular diversity of a marine rock-pool dweller, Tigriopus fulvus (Copepoda, Harpacticoida) [PDF]

, 2019
The copepod genus Tigriopus Norman, 1869 is distributed worldwide in coastal rock pools and it is currently considered to include 14 valid species.
Eduardo Belda, Federico Marrone, Luca Vecchioni, Marco Arculeo, Miguel Rodilla   +4 more
core   +1 more source

Tuberculose multirresistente: Detecção directa em amostras respiratórias com o método de genética molecular MTBDRplus®

Revista Portuguesa de Pneumologia, 2009
Resumo: Uma das principais problemáticas no controlo da tuberculose é o aparecimento de casos de tuberculose multirresistente (TB-MR) e tuberculose extensiva-mente resistente (TB-XDR). A detecção precoce da resistência a fármacos, directamente a partir de amostras respiratórias, é essencial para que se assegure o tratamento atempado, adequado e
Rita Macedo, António Amorim, Edna Pereira   +2 more
openaire   +1 more source

Genética molecular do hipotireoidismo congênito

, 2001
Congenital hypothyroidism (CH) occurs in 1/3000-4000 neonates worldwide and may be classified as permanent or transient. Primary CH accounts for the majority of affected children, while secondary and tertiary CH are rare.
M. Knobel, Célia Regina Nogueira, G. Medeiros-Neto   +2 more
semanticscholar   +1 more source

The potential of seedbank digital information in plant conservation

PLANTS, PEOPLE, PLANET, EarlyView.
Seedbanks are vital for biodiversity conservation, but their potential remains underutilised due to a limited understanding of the intraspecific genetic diversity they hold. By leveraging digitised data associated with seedbank collections, such as sampling locations, number of maternal plants and seed traits, we can attempt the estimation of genetic ...
Roberta Gargiulo, Sean Hoban, Anne M. Visscher, Pablo Gómez Barreiro, Roberta L. C. Dayrell, Kiran L. Dhanjal‐Adams, Alice R. Hudson, Charlotte E. Seal, Simon Kallow, Jan Sala, Lee Oliver, Naomi Carvey, Ted Chapman, Efisio Mattana, Clare Callow, Christopher Cockel, Michael F. Fay, Juan Viruel, Inna Birchenko, Stephanie Miles, Timothy Pearce, Paul Kersey, Elinor Breman, Kate A. Hardwick   +23 more
wiley   +1 more source

Neoplasias endocrinas múltiples: un modelo clínico para aplicar técnicas de genética molecular

, 2000
Multiple endocrine neoplasias (MEN) are syndromes inherited as autosomal dominant. The application of the techniques of molecular biology has made possible the identification of the genes causing MEN 1 and 2. The gene responsable for MEN 1 belongs to the
G. NelsonWohllk, C. PedroBecker, L. JesúsVéliz, G. Pineda   +3 more
semanticscholar   +1 more source

Phylogeny and historical biogeography of the Pachira sensu lato clade (Bombacoideae, Malvaceae) with a new infrageneric classification

TAXON, EarlyView.
Abstract We explore phylogenetic relationships within the Pachira sensu lato clade (Bombacoideae, Malvaceae), test the monophyly of the genera Eriotheca and Pachira, and investigate their biogeographic history. The Pachira s.l. clade comprises ca. 72 species that traditionally have been placed in Eriotheca and Pachira. We sampled ca. 79% of its species
Vania Nobuko Yoshikawa, Júlia Sousa Siqueira, William S. Alverson, Rafaela Passos Camargo, Alexandre Wagner Silva Hilsdorf, Letícia Rafaela de Morais, Flávia Fonseca Pezzini, Marília Cristina Duarte   +7 more
wiley   +1 more source

Genética Molecular y Trastornos del Espectro Autista

Anales de la Facultad de Medicina, 2015
Los Trastornos del Espectro Autista son un grupo de trastornos neuropsiquiátricos heterogéneos tanto en su fenotipo como en su etiología. La importancia del tema radica en el aumento de la prevalencia, siendo actualmente la prevalencia mundial de 60 a 90
Luciana Fariña, Estefanía Galli, Magela Lazo, Lucía Mattei, Víctor Raggio   +4 more
doaj   +2 more sources

Activity of nAChRs containing α9 subunits modulates synapse stabilization via bidirectional signaling programs [PDF]

, 2009
Although the synaptogenic program for cholinergic synapses of the neuromuscular junction is well known, little is known of the identity or dynamic expression patterns of proteins involved in non-neuromuscular nicotinic synapse development.
Elgoyhen, Ana Belen, Murthy, Vidya, Taranda, Julian, Vetter, Douglas E.   +3 more
core   +1 more source

Hipotireoidismo Congênito: Recentes Avanços em Genética Molecular

, 2002
Congenital hypothyroidism (CH), as seen in the neonatal period, is predominantly caused by defects in the organogenesis (athyreosis, ectopic thyroid, thyroid hypoplasia) or by specific defects in hormonogenesis (dyshormonogenesis). Central hypothyroidism
Ileana Gabriela Sanchez de Rubio, M. Knobel, A. C. D. Nascimento, Cecília L. S. Santos, J. V. Toniolo, G. Medeiros-Neto   +5 more
semanticscholar   +1 more source