Results 31 to 40 of about 1,217,828 (289)

Retinoblastoma genetics screening and clinical management

BMC Medical Genomics, 2021
Background India accounts for 20% of the global retinoblastoma (RB) burden. However, the existing data on RB1 gene germline mutations and its influence on clinical decisions is minimally explored.
Himika Gupta, Sivasankar Malaichamy, Ashwin Mallipatna, Sakthivel Murugan, Nallathambi Jeyabalan, Vishnu Suresh Babu, Anuprita Ghosh, Arkasubhra Ghosh, Sam Santhosh, Somasekar Seshagiri, Vedam L. Ramprasad, Govindasamy Kumaramanickavel   +11 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

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

circIFNGR2 regulating ankylosing spondylitis-associated inflammation through macrophage polarization

iScience, 2023
Summary: Macrophages activation is crucial in pathogenesis of rheumatic diseases like ankylosing spondylitis (AS). Circular RNAs (circRNAs)-induced macrophage-associated inflammation participates in many autoimmune diseases but remains elusive in AS ...
Minkai Song, Xiangyu Wang, Jiawen Gao, Weizhou Jiang, Enguang Bi, Taixue An, Ting Wang, Zishuo Chen, Weilu Liu, Zhanjun Shi, Jun Xiao, Chao Zhang   +11 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

Assessing Medical Students’ Knowledge of Genetics: Basis for Improving Genetics Curriculum for Future Clinical Practice

Advances in Medical Education and Practice, 2021
Amal A Alotaibi, Mary Anne W Cordero Basic Science Department, College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh, 11671, Kingdom of Saudi ArabiaCorrespondence: Mary Anne W CorderoBasic Science Department, College of Medicine ...
Alotaibi AA, Cordero MAW
doaj  

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