Results 1 to 10 of about 427,242 (236)

Relation among hypertriglyceridaemia, cardiometabolic disease, and hereditary factors-design and rationale of the Stockholm hyperTRIglyceridaemia REGister study. [PDF]

Eur Heart J Open
Andersson DP, Littmann K, Kindborg G, Eklund D, Sejersen K, Yan J, Eriksson Hogling D, Parini P, Brinck J.   +8 more
europepmc   +2 more sources

Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study [PDF]

, 2020
Background Hereditary Transthyretin Amyloidosis Polyneuropathy is a rare life-threatening neurologic disease that imposes considerable mortality and it is associated with progressive related disabilities.
Coelho, Teresa, Conceição, Isabel, Costa, João, de Carvalho, Mamede, Ferreira, Lara, Inês, Mónica   +5 more
core   +2 more sources

The Differential Role of Human Cationic Trypsinogen (PRSS1) p.R122H Mutation in Hereditary and Nonhereditary Chronic Pancreatitis: A Systematic Review and Meta-Analysis. [PDF]

, 2017
Background:Environmental factors and genetic mutations have been increasingly recognized as risk factors for chronic pancreatitis (CP). The PRSS1 p.R122H mutation was the first discovered to affect hereditary CP, with 80% penetrance.
Deng, Lihui, Hu, Cheng, Lugea, Aurelia, Pandol, Stephen J, Su, Hsin-Yuan, Waldron, Richard T, Wen, Li, Xia, Qing, Zhang, Chenlong   +8 more
core   +3 more sources

Ischaemic strokes in patients with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia: associations with iron deficiency and platelets. [PDF]

, 2014
BackgroundPulmonary first pass filtration of particles marginally exceeding ∼7 µm (the size of a red blood cell) is used routinely in diagnostics, and allows cellular aggregates forming or entering the circulation in the preceding cardiac cycle to lodge ...
AD Kjeldsen, AD Kjeldsen, AE Guttmacher, AJ Easey, B Barzilai, B Nieswandt, Basel Chamali, BD Butler, BJ Folz, BM Silva, C Coupland, C Shovlin, CJ Gallione, CL Shovlin, CL Shovlin, CL Shovlin, CL Shovlin, CL Shovlin, CL Shovlin, CL Shovlin, CL Shovlin, Claire L. Shovlin, DW Johnson, E Buscarini, ER Chilvers, ER Weibel, F Roked, Gillian Angus, H Finnamore, Hannah C. Tighe, HL Devlin, IS Anand, J Feinstein, J Parra, J Remy, JA Dutton, JA Feinstein, JA Livesey, James E. Jackson, JE Van de Pette, JJ Mager, JL Hart, John A. Livesey, John Meek, K Clark, K Hara, K Nanthakumar, K Ono, K Zukotynski, KL Furie, Klaus Brusgaard, LC Weng, LS Valberg, M Bajc, M Billinger, M Blomley, M Moussouttas, M Nakayama, M Yeung, ME Faughnan, Michael A. Laffan, MK Whyte, MW van Gent, MW van Gent, OS AAssar, P Gazzaniga, P Gupta, P Shovlin CL, Wilmshurst, PC Hébert, RD Thompson, RF Gillum, Richard Manning, S Jackson, S Uchiyama, S Velthuis, SM Bang, T Krings, T Ueki, V Cottin, Vatshalan Santhirapala, WB Porter, Y Benjamini, Y Shinohara, Z Hao   +83 more
core   +3 more sources

Development and preliminary testing of the psychosocial adjustment to hereditary diseases scale [PDF]

, 2013
Background: The presence of Lynch syndrome (LS) can bring a lifetime of uncertainty to an entire family as members adjust to living with a high lifetime cancer risk.
Cox, Janet E., Dowden, Jeffrey John, Esplen, Mary Jane, Fitzgerald, G. William N., Gregory, Deborah M., LeDrew, Holly M., Ludlow, Valerie C., Parfrey, Patrick S., Watkins, Kathy E., Way, Christine Y.   +9 more
core   +1 more source

Risk of angioedema following invasive or surgical procedures in HAE type I and II : the natural history [PDF]

, 2013
Background: Hereditary angioedema (HAE), caused by deficiency in C1-inhibitor (C1-INH), leads to unpredictable edema of subcutaneous tissues with potentially fatal complications.
Aygören-Pürsün, Emel, Klingebiel, Thomas, Kreuz, Wolfhart, Martinez Saguer, Inmaculada, Schwabe, Dirk   +4 more
core   +1 more source

WAO guideline for the management of hereditary angioedema [PDF]

, 2012
Hereditary Angioedema (HAE) is a rare disease and for this reason proper diagnosis and appropriate therapy are often unknown or not available for physicians and other health care providers.
Aygören-Pürsün, Emel, Bork, Konrad, Bowen, Tom, Boysen, Henrik B., Craig, Timothy, Farkas, Henriette, Grumach, Anete, Katelaris, Constance H., Lockey, Richard, Longhurst, Hilary, Lumry, William, Magerl, Markus, Martinez-Saguer, Immaculada, Maurer, Marcus, Nast, Alexander, Pawankar, Ruby, Ritchie, Bruce, Zuraw, Bruce   +17 more
core   +1 more source

Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. [PDF]

, 2017
PurposeMany women with an elevated risk of hereditary breast and ovarian cancer have previously tested negative for pathogenic mutations in BRCA1 and BRCA2. Among them, a subset has hereditary susceptibility to cancer and requires further testing.
Adams, Sophie B, Chan, Salina, Crawford, Beth, Gil, Elad, Leitner, Ofri, Ryan, Lauren, Sittler, Taylor, van 't Veer, Laura, van den Akker, Jeroen   +8 more
core   +1 more source

The roles of endoglin gene in cerebrovascular diseases. [PDF]

, 2017
Endoglin (ENG, also known as CD105) is a transforming growth factor β (TGFβ) associated receptor and is required for both vasculogenesis and angiogenesis.
Ma, Li, Su, Hua, Zhang, Rui, Zhu, Wan
core   +2 more sources

Extension algebras of standard modules

, 2012
Let $A$ be a finite dimensional $k$-algebra standardly stratified for a partial order $\leqslant$ and $\Delta$ be the direct sum of all standard modules.
Li, Liping
core   +1 more source