Results 11 to 20 of about 624 (131)

Exome sequencing in a Romanian Bardet‐Biedl syndrome cohort revealed an overabundance of causal BBS12 variants

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 9, Page 2376-2391, September 2023., 2023
Abstract Bardet‐Biedl syndrome (BBS), is an emblematic ciliopathy hallmarked by pleiotropy, phenotype variability, and extensive genetic heterogeneity. BBS is a rare (~1/140,000 to ~1/160,000 in Europe) autosomal recessive pediatric disorder characterized by retinal degeneration, truncal obesity, polydactyly, cognitive impairment, renal dysfunction ...
Sheraz Khan   +17 more
wiley   +1 more source

Womenʼs assessment of the quality of hospital‐based perinatal care by mode of birth in Romania during the COVID‐19 pandemic: Results from the IMAgiNE EURO study

open access: yesInternational Journal of Gynecology &Obstetrics, Volume 159, Issue S1, Page 126-136, December 2022., 2022
Abstract Objective To assess women's perceptions of the quality of maternal and newborn care (QMNC) received in hospitals in Romania during the COVID‐19 pandemic by mode of birth. Methods A validated anonymous online questionnaire based on WHO quality measures.
Marina Ruxandra Otelea   +64 more
wiley   +1 more source

The relative importance of COVID‐19 pandemic impacts on biodiversity conservation globally

open access: yesConservation Biology, Volume 36, Issue 1, February 2022., 2022
Abstract The COVID‐19 pandemic has had an enormous impact on almost all aspects of human society and endeavor; the natural world and its conservation have not been spared. Through a process of expert consultation, we identified and categorized, into 19 themes and 70 subthemes, the ways in which biodiversity and its conservation have been or could be ...
David W. Gibbons   +24 more
wiley   +1 more source

PF683 ARTERIAL THROMBOSIS IN YOUNG PV PATIENTS

open access: yesHemaSphere, Volume 3, Issue S1, Page 295-296, June 2019., 2019
Background: Polycythemia Vera (PV) is a myeloproliferative neoplasm mainly affecting median advanced age while rarely occurs in young patients. PV natural history is marked by vascular complications and studies exploring the thrombotic events and their management in young PV patient are lacking. Aims: The purpose of the present study is to evaluate the
G. Bogoni   +5 more
wiley   +1 more source

Abstract Book for the 27th Congress of the European Hematology Association

open access: yes, 2022
HemaSphere, Volume 6, Issue S3, Page 1-4130, June 2022.
wiley   +1 more source

PF684 ANAGRELIDE MODULATES PROPLATELET FORMATION RESULTING IN DECREASED NUMBER AND INCREASED SIZE OF PLATELETS

open access: yesHemaSphere, Volume 3, Issue S1, Page 296, June 2019., 2019
Background: In patients with essential thrombocythemia (ET) who have high risk factors for thrombotic events, cytoreductive therapy with anagrelide (ANA) or hydroxycarbamide (HC) is one of the treatment options. Despite the clinically evident platelet‐lowering effect of ANA, the detailed mechanism of its effect remains to be elucidated.
N. Miyashita   +4 more
wiley   +1 more source

PF685 THE RELATIONSHIP BETWEEN TOTAL ANTIOXIDANT CAPACITY AND JAK2V617F MUTATION IN ESSENTIAL THROMBOCYTHEMIA

open access: yesHemaSphere, Volume 3, Issue S1, Page 296-297, June 2019., 2019
Background: Essential thrombocythemia (ET) is a BCR‐ABL1‐negative myeloproliferative neoplasm associated in 50–60% of cases with the presence of the JAK2V617F mutation. Several studies have revealed that oxidative stress induces a growth advantage to JAK2V617F‐ positive clones, but little is known about the antioxidant status of ET patients.
M.‐A. Gaman, C. Moisa, A.M. Gaman
wiley   +1 more source

EHA2021 Virtual Congress Abstract Book

open access: yes, 2021
HemaSphere, Volume 5, Issue S2, June 2021.
wiley   +1 more source

PB1923 PONATINIB LONG‐TERM FOLLOW‐UP OF EFFICACY AND SAFETY IN CP‐CML PATIENTS IN REAL WORLD SETTINGS IN FRANCE: THE POST‐PACE STUDY

open access: yesHemaSphere, Volume 3, Issue S1, Page 874-875, June 2019., 2019
Background: Ponatinib (PON) is a third generation tyrosine kinase inhibitor (TKI) used in adults with chronic myeloid leukaemia (CML) or Ph+ acute lymphoblastic leukaemia who are resistant or intolerant to prior TKIs or those harbouring the BCR‐ABL1T315I mutant.
F.‐E. Nicolini   +7 more
wiley   +1 more source

PB1925 COMPARATIVE STUDY OF GLIVEC VERSUS STATE SPONSORED GENERIC IMATINIB MESYLATE AS FIRST LINE THERAPY IN CHRONIC MYELOID LEUKEMIA‐ CHRONIC PHASE

open access: yesHemaSphere, Volume 3, Issue S1, Page 875, June 2019., 2019
Background: In a developing economy like India, Imatinib usage has increased manifold after generic formulations were introduced. 25 brands of generic Imatinib are approved by the Drug Controller General of India. The efficacy and safety of these brands have been repeatedly questioned by different studies.
A. Iqbal   +4 more
wiley   +1 more source

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