Results 151 to 160 of about 3,875,802 (326)

Determinants of response to a parent questionnaire about development and behaviour in 3 year olds: European multicentre study of congenital toxoplasmosis. [PDF]

, 2005
Background: We aimed to determine how response to a parent-completed postal questionnaire measuring development, behaviour, impairment, and parental concerns and anxiety, varies in different European centres.
A Heiser, A Prusa, A Salt, AW Gottfried, B Oliver, CM Stott, D Schmidt, D Zelterman, DC Eisert, FL Goodenough, FP Glascoe, FP Glascoe, G Malm, H Klasen, H Smedje, HK Tan, JP Mackenbach, K Freeman, K Saudino, K Sonnander, KB Doig, KE Beery, L Dinnebeil, LM Pachter, N Ferret, Organisation for Economic Co-operation and Development (OECD)., P Edwards, PS Dale, R Gilbert, R Goodman, R Goodman, R Griffiths, RE Gilbert, RT Anderson, S Johnson, SA Petrill, TM Marteau, TV Perneger, W Buffolano, W Tin   +39 more
core   +2 more sources

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev, Paula Fernandez Alvarez, Marika Frank, Lucy Hanington, Trevor L. Hoffman, Mira B. Irons, Jenny Kim, Akash Kumar, Amaia Lasa‐Aranzasti, Diana Le Duc, Helen Livesey, Oliver Murch, Deborah Shears, Brandon K. Walther, Tamar Harel   +14 more
wiley   +1 more source

Ocular and uteroplacental pathology in a macaque pregnancy with congenital Zika virus infection

PLoS ONE, 2018
Congenital Zika virus (ZIKV) infection impacts fetal development and pregnancy outcomes. We infected a pregnant rhesus macaque with a Puerto Rican ZIKV isolate in the first trimester.
E. Mohr, Lindsey Block, C. Newman, L. Stewart, Michelle R. Koenig, M. Semler, Meghan E. Breitbach, Leandro B. C. Teixeira, Xiankun Zeng, A. Weiler, Gabrielle L. Barry, Troy H. Thoong, G. Wiepz, D. Dudley, H. Simmons, A. Mejia, Terry K. Morgan, M. Salamat, S. Kohn, K. Antony, M. Aliota, M. Mohns, J. Hayes, N. Schultz-Darken, Michele L. Schotzko, E. Peterson, S. Capuano, Jorge E. Osorio, Shelby L. O’Connor, T. Friedrich, David H. O’Connor, T. Golos   +31 more
semanticscholar   +1 more source

Congenital Chagas Disease in the United States: Cost Savings Through Maternal Screening [PDF]

, 2018
Chagas disease, caused by Trypanosoma cruzi, is transmitted by insect vectors through transfusions, transplants, insect feces in food, and from mother to child during gestation.
Bialek, Stephanie R., Montgomery, Susan P., Perez-Zetune, Victoria, Stillwaggon, Eileen   +3 more
core   +2 more sources

A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri, Jessica Gold, Nina Gold, Alanna Strong   +3 more
wiley   +1 more source

The contact process with semi-infected state on the complete graph [PDF]

arXiv, 2017
In this paper we are concerned with the contact process with semi-infected state on the complete graph $C_n$ with $n$ vertices. In our model, each vertex is in one of three states that `healthy', `semi-infected' or `wholly-infected'. Only wholly-infected vertices can infect others. A healthy vertex becomes semi-infected when being infected while a semi-
arxiv  

The role of IgG avidity in diagnosis of cytomegalovirus infection in newborns and infants [Uloga IgG aviditeta u dijagnostici infekcije citomegalovirusom u novorođenčadi i dojenčadi] [PDF]

, 2012
To evaluate the value of IgG avidity in diagnosis of congenital cytomegalovirus (CMV) infection in newborns and infants we collected serum samples from 40 infants under 12 months of age with suspected congenital CMV infection.
Ljubin-Sternak, Sunčanica, Mlinarić-Galinović, Gordana, Sviben, Mario, Vilibić-Čavlek, Tatjana, Vojnović, Gordana   +4 more
core  

Gut Microbiome Pilot Study of Patients With CHARGE Syndrome and Sibling Controls

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Difficulties with feeding and digestion are common in individuals with CHARGE syndrome. Animal models with CHD7 gene variants demonstrate abnormal gut innovation and dysmotility. Our pilot study evaluated whether individuals with CHARGE syndrome have differences in their gut microbiome compared to unaffected siblings.
Emily R. Chedrawe, Jessica Connors, Angela Arra, Katherine Dunn, Kim Blake, Johan van Limbergen   +5 more
wiley   +1 more source

Controversial questions of medical statistical registration of congenital infections

Журнал инфектологии, 2014
Medical aid improvement in the cases of congenital infections (CI) is one of the most important problems in modern obstetrics and perinatology. The true incidence of congenital infections is not known. One of the reasons for this situation is the lack of
I. G. Tekhova, M. G. Dariina, K. N. Movchan, N. M. Khrustaleva, Yu. V. Gorelik, K. I. Rusakevich   +5 more
doaj   +1 more source

Classifying Latent Infection States in Complex Networks [PDF]

arXiv, 2014
Algorithms for identifying the infection states of nodes in a network are crucial for understanding and containing infections. Often, however, only a relatively small set of nodes have a known infection state. Moreover, the length of time that each node has been infected is also unknown.
arxiv