Results 141 to 150 of about 302,141 (331)

Primary cytomegalovirus infection during pregnancy and congenital infection: a population-based, mother-child, prospective cohort study. [PDF]

J Perinatol, 2021
Shimada K, Toriyabe K, Kitamura A, Morikawa F, Minematsu T, Ikejiri M, Suga S, Toyoda H, Amano K, Kitano M, Usui S, Masuda S, Ikeda T.   +12 more
europepmc   +1 more source

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

Infections of Congenitally Athymic (Nude) and Normal Mice with Avirulent and Virulent Strains of Venezuelan Encephalitis Virus [PDF]

, 1978
Paul A. LeBlanc, W. F. Scherer, D. H. Sussdorf   +2 more
openalex   +1 more source

Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome

American Journal of Medical Genetics Part A, EarlyView.
Katherine J. K. Patterson, John M. Graham Jr, Natalie D. Shaw   +2 more
wiley   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Congenital infection of SARS-CoV-2 in live-born neonates: a population-based descriptive study. [PDF]

Clin Microbiol Infect, 2021
Garcia-Ruiz I, Sulleiro E, Serrano B, Fernandez-Buhigas I, Rodriguez-Gomez L, Sanchez-Nieves Fernandez D, Anton-Pagarolas A, Esperalba-Esquerra J, Frick MA, Camba F, Navarro-Jimenez A, Fernandez-Hidalgo N, Maiz N, Carreras E, Suy A, GESTACOVID Collaborative Group.   +15 more
europepmc   +1 more source

Immunoglobulin G to Virus-Specific Early Antigens in Congenital, Primary, and Reactivated Human Cytomegalovirus Infections [PDF]

, 1979

openalex   +1 more source

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source

SARS-CoV-2 congenital infection and pre-eclampsia-like syndrome in dichorionic twins: A case report and review of the literature. [PDF]

Int J Gynaecol Obstet, 2021
Abadía-Cuchí N, Ruiz-Martínez S, Fabre M, Mateo P, Remacha Sienes M, Ventura Faci P, Bueno Sancho J, Benito R, Paules C.   +8 more
europepmc   +1 more source