Results 81 to 90 of about 372,823 (284)

Congenital microcephaly [PDF]

, 2014
The underlying etiologies of genetic congenital microcephaly are complex and multifactorial. Recently, with the exponential growth in the identification and characterization of novel genetic causes of congenital microcephaly, there has been a ...
Agha, Ahmad, Arai, Banin, Bettencourt-Dias, Bicknell, Bicknell, Bolanos-Garcia, Bond, Bongers, Buchman, Caldecott, Caldecott, Capo-Chichi, Carney, Casey, Cimprich, Cizmecioglu, Croteau, Dehay, Dehay, Deriano, Domchek, Fish, Gatz, Gellert, Genin, Gilmore, Gineau, Gorlin, Griffith, Gruber, Guernsey, Han, Hanks, Heldin, Hemerly, Herzog, Heyer, Hickson, Hinchcliffe, Hughes, Issa, Jaglin, Jamieson, Kang, Kee, Kerzendorfer, Kim, Kiyomitsu, Kiyomitsu, Koch, Kumagai, Kuo, Lancaster, Lavin, Lee, Lee, Lee, Lobrich, Loveday, Loveday, Mahmood, Maréchal, Matsumoto, Matsuoka, Matsuura, Meindl, Mimitou, Mirzaa, Miyoshi, Miyoshi, Moldovan, Morris-Rosendahl, Moshous, Moynahan, Murga, Murray, Musacchio, Mühlhans, Noguchi, Novorol, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, Ogi, Orii, Pilaz, Poirier, Ponting, Qvist, Rakic, Rauch, Riballo, Romaniello, Roos, Rudner, Schneider, Shah, Shaheen, Shaheen, Shamseldin, Shen, Shiloh, Sir, Sirbu, Sokka, Spalding, Spassky, Stewart, Stiff, Stokes, Symington, Tan, Thornton, van der Burg, van der Lelij, Varon, Verloes, Walczak, Waltes, Weedon, Weinfeld, Woodbine, Woods, Wu, Zimmerman   +129 more
core   +1 more source

FOXN1 deficient nude severe combined immunodeficiency

Orphanet Journal of Rare Diseases, 2017
Nude severe combined immunodeficiency is a rare inherited disease caused by autosomal recessive loss-of-function mutations in FOXN1. This gene encodes a transcription factor essential for the development of the thymus, the primary lymphoid organ that ...
Ioanna A. Rota, Fatima Dhalla
semanticscholar   +1 more source

Does counseling increase sustained benefit of HAART among prison inmates after release to the community? [PDF]

, 2005
The lack of sustained effectiveness of HAART after release to the community of HIV-infected inmates treated in prison was well demonstrated by Springer et al. in a recent article.
Babudieri, Sergio, Maida, Ivana Rita, Pintus, Antonio, Rezza, Giovanni, Starnini, Giulio   +4 more
core   +1 more source

Human T cell generation is restored in CD3δ severe combined immunodeficiency through adenine base editing

Cell, 2023
Grace E. McAuley, G. Yiu, Patrick Chang, Gregory A. Newby, Beatriz Campo-Fernández, S. Fitz-Gibbon, Xiaomeng Wu, S. L. Kang, Amber Garibay, Jeffrey D. Butler, Valentina Christian, Ryan L. Wong, Kelcee A. Everette, Anthony Azzun, Hila Gelfer, C. Seet, Arumugavadivel Narendran, Luis Murguia-Favela, Z. Romero, Nicola Wright, David R. Liu, G. Crooks, D. Kohn   +22 more
semanticscholar   +1 more source

Novel Engraftment and T Cell Differentiation of Human Hematopoietic Cells in ART−/−IL2RG−/Y SCID Pigs

Frontiers in Immunology, 2020
Pigs with severe combined immunodeficiency (SCID) are an emerging biomedical animal model. Swine are anatomically and physiologically more similar to humans than mice, making them an invaluable tool for preclinical regenerative medicine and cancer ...
Adeline N. Boettcher, Yunsheng Li, Amanda P. Ahrens, Matti Kiupel, Kristen A. Byrne, Crystal L. Loving, A. Giselle Cino-Ozuna, Jayne E. Wiarda, Jayne E. Wiarda, Jayne E. Wiarda, Malavika Adur, Blythe Schultz, Jack J. Swanson, Elizabeth M. Snella, Chak-Sum (Sam) Ho, Sara E. Charley, Zoe E. Kiefer, Joan E. Cunnick, Ellie J. Putz, Giuseppe Dell'Anna, Jackie Jens, Swanand Sathe, Frederick Goldman, Erik R. Westin, Jack C. M. Dekkers, Jason W. Ross, Christopher K. Tuggle   +26 more
doaj   +1 more source

HIV Types, Groups, Subtypes and Recombinant Forms: Errors in Replication, Selection Pressure and Quasispecies [PDF]

, 2012
HIV-1 is a chimpanzee virus which was transmitted to humans by several zoonotic events resulting in infection with HIV-1 groups M P, and in parallel transmission events from sooty mangabey monkey viruses leading to infections with HIV-2 groups A H.
Alvarez M, Batmanian J, Bocharov G, Brennan CA, Burgard M, Buzon MJ, Dahl V, Dai L, Domingo E, Duarte EA, Etienne L, Fang G, Fultz PN, Gunthard HF, Henriet S, Iordanskiy S, Josef Eberle, Julg B, Kijak GH, Korber B, Law M, Lemey P, Lorenzo-Redondo R, Lutz G. Gürtler, Motomura K, Neel C, Onafuwa-Nuga A, Pathak VK, Pathak VK, Rachinger A, Sauter D, Shimizu N, Simon-Loriere E, Smith DM, Sterjovski J, Swenson LC, Tienen C, Troyer JL, Van der Kuyl AC, Van der Vlist M, Zhu T   +40 more
core   +1 more source

Newborn Screening for Severe Combined Immunodeficiency in the US: Current Status and Approach to Management

International Journal of Neonatal Screening, 2017
In the US, the assay of T cell receptor excision circles (TRECs) in newborn dried blood spot specimens to detect severe combined immunodeficiency (SCID) was first piloted in 2008 in the state of Wisconsin.
M. Dorsey, J. Puck
semanticscholar   +1 more source

X-linked severe combined immunodeficiency

Hospital Medicine, 2002
Severe combined immunodeficiency is one of the most common causes of primary immunodeficiencies in humans. Molecular biological techniques have allowed new, therapeutically useful treatments for these diseases to be introduced into clinical practice.
openaire   +5 more sources

Long-term neurocognitive function of pediatric patients with severe combined immune deficiency (SCID): pre- and post-hematopoietic stem cell transplant (HSCT). [PDF]

, 2009
BACKGROUND:Hematopoietic stem cell transplantation (HSCT) is the only cure for patients with severe combined immunodeficiency (SCID). The purpose of this study was to evaluate long-term neurodevelopment of patients with SCID following myeloablative ...
Azen, Colleen, Epport, Karen, Kohn, Donald B, Lin, Malinda, Parkman, Robertson, Shah, Ami J   +5 more
core  

Drug-Drug Interactions Among Hepatitis C Virus (HCV) and Human Immunodeficiency Virus (HIV) Medications [PDF]

, 2015
One-fourth of individuals diagnosed with the human immunodeficiency virus concomitantly have the hepatitis C virus infection. Since the discovery of highly active antiretroviral therapy, liver complications have become the leading cause of morbidity and ...
Gandhi, Mona A., Kaur, Kirpal, Slish, Judianne   +2 more
core   +2 more sources