Results 81 to 90 of about 11,080 (216)

Implementation of the JAK2V617F mutation analysis in the pathway of suspected myeloproliferative neoplasms in Groote Schuur Hospital [PDF]

, 2016
We studied the implementation of JAK2 mutation analysis in conjunction with the World Health Organisation (WHO) guidelines in the pathway to MPN diagnosis in 279 patients presenting with one of three clinical scenarios: erythrocytosis, OR leukocytosis ...
Poulet, Erma
core  

Investigation and Management of Erythrocytosis [PDF]

, 2016
An absolute erythrocytosis is present when the red cell mass is greater than 125 % of the predicted value for sex and body mass. It can have a primary or secondary and congenital or acquired cause.
McMullin, Mary Frances
core   +1 more source

Incidental pulmonary arteriovenous malformation

Journal of Hospital Medicine, EarlyView.
Mallory A. Von Lotten, Eric Howell, J. Andrew Watson   +2 more
wiley   +1 more source

A single JAK2‐V617F hematopoietic stem cell can initiate myeloproliferative neoplasm when transplanted into non‐conditioned recipient mice

HemaSphere, Volume 10, Issue 5, May 2026.
Abstract Myeloproliferative neoplasms (MPNs) are clonal disorders of hematopoietic stem cells (HSCs) that are most frequently caused by acquired somatic mutations in JAK2. A number of conditional mouse models of JAK2‐V617F‐driven MPN have been generated that rely on Cre‐LoxP‐mediated activation, resulting in polyclonal disease.
Quentin Kimmerlin, Morgane Hilpert, Nils Hansen, Alexandre Guy, Marc Usart, Jan Stetka, Patryk Sobieralski, Tiago Almeida Fonseca, Hui Hao‐Shen, Radek C. Skoda   +9 more
wiley   +1 more source

Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations

Haematologica, 2016
Erythrocytosis is a rare disorder characterized by increased red cell mass and elevated hemoglobin concentration and hematocrit. Several genetic variants have been identified as causes for erythrocytosis in genes belonging to different pathways including
Carme Camps, Nayia Petousi, Celeste Bento, Holger Cario, Richard R. Copley, Mary Frances McMullin, Richard van Wijk, Peter J. Ratcliffe, Peter A. Robbins, Jenny C. Taylor   +9 more
doaj   +1 more source

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders [PDF]

, 2015
To assess factors influencing the success of whole-genome sequencing for mainstream clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families across a broad spectrum of disorders in whom previous screening had identified no ...
Allan, C, Aricescu, AR, Attar, M, Babbs, C, Becq, J, Beeson, D, Bell, JI, Bentley, D, Bento, C, Bignell, P, Blair, E, Broxholme, J, Buck, D, Buckle, VJ, Bull, K, Cais, O, Cario, H, Cazier, J-B, Chapel, H, Copley, RR, Cornall, R, Craft, J, Dahan, K, Davenport, EE, Dendrou, C, Devuyst, O, Donnelly, P, Fenwick, AL, Fiddy, S, Flint, J, Fugger, L, Gilbert, RD, Goriely, A, Green, A, Greger, IH, Grocock, R, Gruszczyk, AV, Hastings, R, Hatton, E, Higgs, D, Hill, A, Holmes, C, Howard, M, Hughes, L, Humburg, P, Humphray, S, Johnson, D, Kanapin, A, Karpe, F, Kingsbury, Z, Kini, U, Knight, JC, Krohn, J, Lamble, S, Langman, C, Lise, S, Lonie, L, Luck, J, Lunter, G, Martin, HC, McCarthy, D, McGowan, SJ, McMullin, MF, McVean, G, Miller, KA, Murray, L, Nemeth, AH, Nesbit, MA, Nutt, D, Ormondroyd, E, Oturai, AB, Pagnamenta, A, Patel, SY, Percy, M, Petousi, N, Piazza, P, Piret, SE, Polanco-Echeverry, G, Popitsch, N, Powrie, F, Pugh, C, Quek, L, Ratcliffe, PJ, Rimmer, A, Robbins, PA, Robson, K, Russo, A, Sahgal, N, Schuh, A, Silverman, E, Simmons, A, Sorensen, PS, Sweeney, E, Taylor, J, Taylor, JC, Thakker, RV, Tomlinson, I, Trebes, A, Twigg, SRF, Uhlig, HH, Van Schouwenburg, PA, Vyas, P, Vyse, T, Wall, SA, Watkins, H, Whyte, MP, Wilkie, AOM, Witty, L, Wright, B, Yau, C   +109 more
core   +1 more source

Integumentary fibrosarcoma in a free‐living swan (Cygnus olor): Medical and welfare considerations

Veterinary Record Case Reports, Volume 14, Issue 2, May 2026.
Abstract A 10‐kg adult male mute swan (Cygnus olor) of unknown age was admitted for investigations of two large ventral masses overlying the keel bone, which were discharging purulent material. The masses measured 8.9 × 2.1 cm and 4.2 × 3.2 cm. Empirical treatment with non‐steroidal anti‐inflammatory drugs and antimicrobials was instigated.
Rachael Amy McKinney, Katherine Hughes
wiley   +1 more source

Physiological Plasticity of Neural-Crest-Derived Stem Cells in the Adult Mammalian Carotid Body [PDF]

, 2017
Adult stem cell plasticity, or the ability of somatic stem cells to cross boundaries and differentiate into unrelated cell types, has been amatter of debate in the last decade.
Annese, Valentina, Navarro Guerrero, Elena, Pardal Redondo, Ricardo, Rodríguez-Prieto, Ismael   +3 more
core   +2 more sources

Downregulation of EPAS1 and EGLN1 mRNA Expression Associated With High‐Altitude Adaptive Genetic Variants in Sherpa Highlanders

Annals of Human Genetics, Volume 90, Issue 3, Page 202-214, May 2026.
ABSTRACT Background and Aims Sherpa highlanders exhibit remarkable tolerance to hypoxia, most likely due to genetic adaptations shaped by natural selection at high altitude. This study examined the roles of endothelial PAS domain protein 1 (EPAS1) and egl‐9 family hypoxia‐inducible factor 1 (EGLN1) in the genetic mechanisms underlying this adaptation ...
Yunden Droma, Fengming Yue, Masao Ota, Nobumitsu Kobayashi, Yoshiaki Kitaguchi, Masayuki Hanaoka   +5 more
wiley   +1 more source

Clinico-Hematological Patterns of Patients Presenting With Erythrocytosis

Pakistan Armed Forces Medical Journal
Objective: To assess the frequency of erythrocytosis and compare the clinical features and haematological parameters in patients presenting with primary and secondary erythrocytosis in the Pakistani population.
Shumaila Asghar, Asad Mahmood Abbasi, Jawad Zafar, Helen Mary Robert, Ayesha Khursheed, Sadia Ali   +5 more
doaj   +1 more source