Results 91 to 100 of about 67,545 (327)

Bounding bias due to selection

, 2019
When epidemiologic studies are conducted in a subset of the population, selection bias can threaten the validity of causal inference. This bias can occur whether or not that selected population is the target population, and can occur even in the absence ...
Smith, Louisa H., VanderWeele, Tyler J.
core   +1 more source

Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome [PDF]

, 2012
A homozygous mutational change in the Ataxia-Telangiectasia and RAD3 related (ATR) gene was previously reported in two related families displaying Seckel Syndrome (SS). Here, we provide the first identification of a Seckel Syndrome patient with mutations
A Ciccia, A Klingseisen, A Rauch, A. Malcolm R. Taylor, AD Borglum, Andrew O. M. Wilkie, D Cortez, DL Guernsey, E Griffith, E Kalay, EA Nam, Emma Hobson, EN Noensie, F Majewski, Gillian Carpenter, GK Alderton, GK Thornton, Grant S. Stewart, HL Ball, IM Ward, J Falck, J Goodship, JG Hall, Katrina Prescott, L Zou, LI Toledo, LS Bicknell, LS Bicknell, M Murga, M O'Driscoll, M Willems, Margaret Barrow, Mark O'Driscoll, Michiko Matsuse, Mohnish Suri, MS Al-Dosari, ND Lakin, Norisato Mitsutake, P Qvist, Penny A. Jeggo, Philip J. Byrd, PR Andreassen, Pradeep Vasudevan, RA Chanoux, RJ Gorlin, SA de Munnik, Sarah Walker, Siripan Limsirichaikul, Tom Stiff, Tomoo Ogi, V Paciotti, Y Namiki, Yuka Nakazawa   +52 more
core   +5 more sources

A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Non‐syndromic Retinitis Pigmentosa (NsRP) was well known as one of the causes of visual impairment already in the 19th century. Giuseppe Albertotti, Professor of Ophthalmology at the University of Modena (Italy) in 1893, described a high prevalence of NsRP in a geographic isolate, the small village of Colloro, in northwestern Italy.
Andrea Guala, Fabio Sirchia, Claudia Scotti, Elena Rossi, Roberta Falcioni, Silvano Ragozza, Antonella Casella, Enza Maria Valente, Cesare Danesino   +8 more
wiley   +1 more source

Full genome sequence and sfRNA interferon antagonist activity of Zika virus from Recife, Brazil [PDF]

, 2016
Background: The outbreak of Zika virus (ZIKV) in the Americas has transformed a previously obscure mosquito-transmitted arbovirus of the Flaviviridae family into a major public health concern.
Biek, Roman, Brennan, Benjamin, Clark, Jordan J., Cordeiro, Marli T., Cumberworth, Stephanie L., Da Silva Filipe, Ana, Davis, Christopher, Donald, Claire L., Fall, Gamou, Freitas de Oliveira França, Rafael, Hughes, Joseph, Kohl, Alain, Lindenbach, Brett D., McLauchlan, John, Owsianka, Anna M., Patel, Arvind H., Pena, Lindomar J., Rehwinkel, Jan, Rezelj, Veronica V., Sall, Amadou A., Schnettler, Esther, Selinger, Martin, Varjak, Margus, Wilkie, Gavin S., Zuvanov, Luíza   +24 more
core   +3 more sources

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source

Strong CD4 T Cell Responses to Zika Virus Antigens in a Cohort of Dengue Virus Immune Mothers of Congenital Zika Virus Syndrome Infants

Frontiers in Immunology, 2020
Background: There is an urgent need to understand the complex relationship between cross-reactive anti-viral immunity, disease susceptibility, and severity in the face of differential exposure to related, circulating Flaviviruses.
Catherine J. Reynolds, Patricia Watber, Camilla Natália Oliveira Santos, Danielle Rodrigues Ribeiro, Juliana Cardoso Alves, Adriana B. L. Fonseca, Ana J. B. Bispo, Roseane L. S. Porto, Kalliopi Bokea, Amélia Maria Ribeiro de Jesus, Roque Pacheco de Almeida, Rosemary J. Boyton, Daniel M. Altmann   +12 more
doaj   +1 more source

Mathematical modeling of Zika disease in pregnant women and newborns with microcephaly in Brazil

, 2017
We propose a new mathematical model for the spread of Zika virus. Special attention is paid to the transmission of microcephaly. Numerical simulations show the accuracy of the model with respect to the Zika outbreak occurred in Brazil.Comment: This is a ...
Area, Ivan, Ndairou, Faical, Nieto, Juan J., Silva, Cristiana J., Torres, Delfim F. M.   +4 more
core   +1 more source

Animal models of Zika virus infection, pathogenesis, and immunity [PDF]

, 2017
Zika virus (ZIKV) is an emerging mosquito-transmitted flavivirus that now causes epidemics affecting millions of people on multiple continents. The virus has received global attention because of some of its unusual epidemiological and clinical features ...
Diamond, Michael S, Morrison, Thomas E
core   +2 more sources

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp, Elizabeth A. VanSickle, Julianne Michael, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann   +7 more
wiley   +1 more source

Genome-wide Integrative Analysis of Zika-Virus-Infected Neuronal Stem Cells Reveals Roles for MicroRNAs in Cell Cycle and Stemness. [PDF]

, 2019
Zika virus (ZIKV) infection is implicated in severe fetal developmental disorders, including microcephaly. MicroRNAs (miRNAs) post-transcriptionally regulate numerous processes associated with viral infection and neurodegeneration, but their ...
Dang, Jason W, Qin, Yue, Rana, Tariq M, Tiwari, Shashi Kant   +3 more
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