Results 21 to 30 of about 1,216,010 (297)

Type 1 diabetes [PDF]

, 2018
Type 1 diabetes is a chronic autoimmune disease characterised by insulin deficiency and resultant hyperglycaemia. Knowledge of type 1 diabetes has rapidly increased over the past 25 years, resulting in a broad understanding about many aspects of the ...
DiMeglio, Linda A., Evans-Molina, Carmella, Oram, Richard A.   +2 more
core   +1 more source

Immunopathogenesis of rheumatoid arthritis [PDF]

, 2017
Rheumatoid arthritis (RA) is the most common inflammatory arthropathy. The majority of evidence, derived from genetics, tissue analyses, models, and clinical studies, points to an immune-mediated etiology associated with stromal tissue dysregulation that
Ahmed, Ai, Ai, Anzilotti, Arend, Astorri, Benham, Bombardieri, Bottini, Bottini, Byng-Maddick, Catrina, Catrina, Charles-Schoeman, Christophorou, Corsiero, Croft, de Aquino, de Hair, Deane, Dennis, Diarra, Ekwall, El-Gabalawy, Ferreira, Filer, Firestein, Firestein, Firestein, Firestein, Firestein, Fonseca, Franz, Gary S. Firestein, Genovese, Hammaker, Harre, Hill, Horiuchi, Huber, Iain B. McInnes, Joosten, Juarez, Kaminsky, Karouzakis, Kelly, Kiener, Kim, Kinslow, Kirschmann, Klarenbeek, Konig, Konig, Krishnadas, Krishnamurthy, Källberg, Langley, Law, Lee, Lefèvre, Linn-Rasker, Liu, Lubberts, Lundström, Makrygiannakis, Matsumoto, McInnes, McInnes, McInnes, McInnes, McKellar, Miossec, Mydel, Müller-Ladner, Nakamachi, Nakano, Nakano, Nam, Okada, Pap, Perlman, Pitzalis, Randen, Rawlings, Raychaudhuri, Raza, Reynisdottir, Reynisdottir, Robertson, Rodríguez-Carrio, Rombouts, Rossetti, Scally, Scher, Schiff, Shi, Shi, Smolen, Smolen, Snir, Sokolove, Stanczyk, Suzuki, Tan, Tran, Tsaprouni, van Beers, van der Helm-van Mil, Vassallo, Wang, Wegner, Weyand, Yamamoto, Yang, Zhang, Zvaifler   +115 more
core   +1 more source

New variants of ABCA12 in harlequin ichthyosis baby

Journal of Pediatric and Neonatal Individualized Medicine, 2018
Harlequin ichthyosis (HI) is an extremely rare genetic skin disorder and the most severe form of a group of disorders, which includes lamellar ichthyosis and congenital ichthyosiform erythroderma.
Sara Peixoto, Joana Amaral, Dolores Faria, Cristina Resende, Gabriela Mimoso, Lina Ramos   +5 more
doaj   +1 more source

Advances in clinical genetics and genomics

Intelligent Medicine, 2021
Developments in genetics and genomics are progressing at an unprecedented speed. Twenty years ago, the human genome project provided the first glimpses into the human genome sequence and launched a new era of human genetics.
Sen Zhao, Xi Cheng, Wen Wen, Guixing Qiu, Terry Jianguo Zhang, Zhihong Wu, Nan Wu   +6 more
doaj   +1 more source

International guidelines for the management and treatment of Morquio A syndrome. [PDF]

, 2014
Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired ...
Berger, Kenneth I, Giugliani, Roberto, Harmatz, Paul, Hendriksz, Christian J, Kampmann, Christoph, Mackenzie, William G, Raiman, Julian, Savarirayan, Ravi, Villarreal, Martha Solano   +8 more
core   +2 more sources

A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies

Frontiers in Cardiovascular Medicine, 2016
Titin (TTN) is known as the largest sarcomeric protein that resides within the heart muscle. Due to alternative splicing of TTN the heart expresses two major isoforms (N2B and N2BA) that incorporate four distinct regions termed the Z-line, I-band, A-band,
Marta Gigli, Marta Gigli, Rene Begay, Gaetano Morea, Gaetano Morea, Sharon Graw, Gianfranco Sinagra, Matthew Taylor, Henk Granzier, Luisa Mestroni   +9 more
doaj   +1 more source

Complexities of Clinical Genetics Consultation: An Interprofessional Clinical Skills Workshop

MedEdPORTAL, 2020
Introduction Advances in genomic medicine contribute to increased demand for clinical genetics services and require physicians to understand the interprofessional practice of this field.
Jodi D. Hoffman, Rachel Thompson, Kathleen B. Swenson, Shoumita Dasgupta   +3 more
doaj   +1 more source

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

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

Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis. [PDF]

, 2011
We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and ...
Dipple, Katrina M, Kohannim, Omid, Peredo, Jane, Quintero-Rivera, Fabiola   +3 more
core   +2 more sources