Results 41 to 50 of about 1,217,808 (321)

Rare manifestation of a c.290 C\u3eT, p.Gly97Glu VCP mutation [PDF]

, 2015
Introduction. The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. Methods.
Chou, Tsui-Fen, Crockett, Cameron D, Gonzalez, Michael A, Grider, Tiffany, Jerath, Nivedita U, Moore, Steven A, Shy, Michael E, Swenson, Andrea, Weihl, Conrad C, Zuchner, Stephan   +9 more
core   +4 more sources

Rare genetic variants: making the connection with breast cancer susceptibility

AIMS Genetics, 2015
The practice of clinical genetics in the context of breast cancer predisposition has reached another critical point in its evolution. For the past two decades, genetic testing offered to women attending clinics has been limited to BRCA1 and BRCA2 unless ...
Tú Nguyen-Dumont, Jenna Stewart, Ingrid Winship, Melissa C. Southey   +3 more
doaj   +1 more source

Human variation in population-wide gene expression data predicts gene perturbation phenotype

iScience, 2022
Summary: Population-scale datasets of healthy individuals capture genetic and environmental factors influencing gene expression. The expression variance of a gene of interest (GOI) can be exploited to set up a quasi loss- or gain-of-function “in ...
Lorenzo Bonaguro, Jonas Schulte-Schrepping, Caterina Carraro, Laura L. Sun, Benedikt Reiz, Ioanna Gemünd, Adem Saglam, Souad Rahmouni, Michel Georges, Peer Arts, Alexander Hoischen, Leo A.B. Joosten, Frank L. van de Veerdonk, Mihai G. Netea, Kristian Händler, Sach Mukherjee, Thomas Ulas, Joachim L. Schultze, Anna C. Aschenbrenner   +18 more
doaj   +1 more source

Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies [PDF]

, 2018
Objective: The aim of this study was the clinical and molecular characterization of a family segregating a trait consisting of a phenotype specifically involving the maxillary canines, including agenesis, impaction and ectopic eruption, characterized by ...
Barbato, Ersilia, Caputo, Viviana, Ciolfi, Andrea, Di Giorgio, Roberto, Genovesi, Maria Luce, Giovannetti, Agnese, Guarnieri, Rosanna, Magliozzi, Maria Rosa, Paolacci, Stefano, Pizzi, Simone, Pizzuti, Antonio, Tartaglia, Marco, Traversa, Alice   +12 more
core   +1 more source

A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report

Clinical Case Reports, 2017
Key Clinical Message 15q deletions have been described in association with intellectual disability and autism spectrum disorder (ASD). Previous reports have supported the role of 15q24 low copy repeats (LCRs) in mediating alternatively sized genomic ...
Dina F. Ahram, Yasser Al‐Sarraj, Rowaida Z. Taha, Saba F. Elhag, Fouad A. Al‐Shaban, Hatem El‐Shanti, Marios Kambouris   +6 more
doaj   +1 more source

Genetic determinants of cortical structure (thickness, surface area and volumes) among disease free adults in the CHARGE Consortium [PDF]

, 2019
Cortical thickness, surface area and volumes (MRI cortical measures) vary with age and cognitive function, and in neurological and psychiatric diseases.
Adams, H., Ahmad, S., Ames, D., Amin, N., Amouye, P., Andreassen, O., Armstrong, N., Bastin, M., Becker, J., Beiser, A., Bernard, M., Beyer, F., Bis, J., Bralten, J., Brodaty, H., Bülow, R., Carmichael, O., Colodro-Conde, L., Crivello, F., Dale, A., Deary, I., Debette, S., DeCarli, C., Fornage, M., Franz, C., Gillespie, N., Grabe, H., Grasby, K., Harris, M., Hibar, D., Himali, J., Hofer, E., Hofman, A., Ikram, M., Jahanshad, N., Jian, X., Jiang, J., Karama, S., Knol, M., Kremen, W., Kwok, J., Lewis, L., Li, S., Lin, H., Lind, P., Loeffler, M., Logue, M., Longstreth Jr., W., Lopez, O., Luciano, M., Lyons, M., Maillard, P., Maingault, S., Mather, K., Mazoyer, B., Medland, S., Mishra, A., Mosley, T., Neale, M., Niessen, W., Painter, J., Panizzon, M., Paus, T., Pausova, Z., Pike, G., Pirpamer, L., Pizzagalli, F., Psaty, B., Roshchupkin, G., Rotter, J., Saba, Y., Sachdev, P., Satizabal, C., Schmid, R., Schmidt, H., Schofield, P., Scholz, M., Seiler, S., Seshadr, S., Stein, J., Teumer, A., Thalamuthu, A., Thompson, P., Trollor, J., Tzourio, C., Uitterlinden, A., van der Lee, S., van Duijn, C., Vernooij, M., Villringer, A., Völker, U., Wardlaw, J., Wen, W., Witte, A., Wittfeld, K., Wright, M., Xia, R., Yang, Q., Zare, H.   +98 more
core   +2 more sources

A Quality Improvement Initiative to Standardize Pneumocystis jirovecii Pneumonia Prophylaxis in Pediatric Patients With Solid Tumors

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Pediatric patients with extracranial solid tumors (ST) receiving chemotherapy are at an increased risk for Pneumocystis jirovecii pneumonia (PJP). However, evidence guiding prophylaxis practices in this population is limited. A PJP‐related fatality at our institution highlighted inconsistent prescribing approaches and concerns about
Kriti Kumar, Denise M. Connolly, Ellen Kellington, Elyse Zelunka, Karla Kerrigan, Furqan Shaikh, Paul C. Nathan, Meredith S. Irwin, Sarah Cohen‐Gogo   +8 more
wiley   +1 more source

Clinical Genetics in Britain: Origins and development [PDF]

, 2010
Annotated and edited transcript of a Witness Seminar held on 23 September 2008. Introduction by Professor Sir John Bell, Uiversity of Oxford.First published by the Wellcome Trust Centre for the History of Medicine at UCL, 2010.©The Trustee of the ...
Harper, PS, Reynolds, LA, Tansey, EM
core  

Molecular Genetics of Intracranial Meningiomas with Emphasis on Canonical Wnt Signalling. [PDF]

, 2016
Research over the last decade recognized the importance of novel molecular pathways in pathogenesis of intracranial meningiomas. In this review, we focus on human brain tumours meningiomas and the involvement of Wnt signalling pathway genes and proteins ...
Kafka, Anja, Lechpammer, Mirna, Pećina-Šlaus, Nives   +2 more
core   +2 more sources

Sickle Cell Disease Is an Inherent Risk for Asthma in a Sibling Comparison Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Sickle cell disease (SCD) and asthma share a complex relationship. Although estimates vary, asthma prevalence in children with SCD is believed to be comparable to or higher than the general population. Determining whether SCD confers an increased risk for asthma remains challenging due to overlapping symptoms and the ...
Suhei C. Zuleta De Bernardis, Okeleji Olayinka, Mariam Z. Quraishi, Lakshmi V. Srivaths, Deborah L. Brown, Neethu M. Menon, Ricardo A. Mosquera, Ashwin P. Patel, James M. Stark, Aravind Yadav   +9 more
wiley   +1 more source