Zobrazeno 1 - 10 of 13 pro vyhledávání: '"E B, Gómez García"'
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Akademický článek
Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome
Autor: E. B. Gómez García, M. B. I. Lobbes, K. van de Vijver, K. Keymeulen, F. van der Ent, H. G. Yntema, V. C. Tjan-Heijnen, C. Boetes
Publikováno v: Case Reports in Radiology, Vol 2012 (2012)
Cowden syndrome (CS) is an autosomal dominant disorder characterized by presence of multiple hamartomas, and other benign and malignant abnormalities of the breasts, skin, thyroid, endometrium, gastrointestinal tract, and central nervous system. Hama
Externí odkaz: https://doaj.org/article/4457536be757438691b47df22ae58343
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3
Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII deficiency
Autor: A. Sturk, J. Stibbe, E. B. Gómez García, M. Kappers, Rogier M. Bertina, S. R. Poort, M. C. L. Schaap
Publikováno v: British Journal of Haematology. 112:513-518
Congenital factor XIII (FXIII) deficiency is a rare autosomal recessive disorder, usually attributed to a defect in the FXIII A subunit, whose genetic basis has been studied in a number of cases. We describe here the genetic variations found in two u
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fa2cffcb3308be7744f3e2b969c18307
https://doi.org/10.1046/j.1365-2141.2001.02577.x
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4
The -148 C/T fibrinogen gene polymorphism and fibrinogen levels in ischaemic stroke: a case-control study
Autor: M. P. J. Van Goor, Frank W.G. Leebeek, Peter J. Koudstaal, Geert-Jan Brouwers, Diederik W.J. Dippel, E B Gómez-García
Publikováno v: Journal of Neurology Neurosurgery and Psychiatry, 76(1), 121-123. BMJ Publishing Group
Background: To determine whether −148 C/T fibrinogen gene promoter polymorphism increases stroke risk by modifying the fibrinogen level. Design: A case–control study of patients with first ever ischaemic stroke, confirmed by computed tomography.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59f26ee0d8ac61d2d81a1fa10e222f8b
https://doi.org/10.1136/jnnp.2004.038414
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5
Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes
Autor: C R M, Lammens, E M A, Bleiker, S, Verhoef, M G E M, Ausems, D, Majoor-Krakauer, R H, Sijmons, F J, Hes, E B, Gómez-García, T A M, Van Os, L, Spruijt, R B, van der Luijt, A M W, van den Ouweland, M W G, Ruijs, C, Gundy, T, Nagtegaal, N K, Aaronson
Publikováno v: Psycho-oncology. 20(6)
Li Fraumeni syndrome (LFS) and Von Hippel-Lindau disease (VHL) are two rare hereditary tumor syndromes, characterized by a high risk of developing multiple tumors at various sites and ages for which preventive and treatment options are limited. For p
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f4e2447b970cc5f09251364bf1b62727
https://pubmed.ncbi.nlm.nih.gov/21384469
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8
Levels of vitamin K-dependent procoagulant and anticoagulant proteins in over-anticoagulated patients
Autor: F J Penning-van Beest, E B Gómez García, F.R. Rosendaal, Bruno H. Stricker, F. J. M. Van Der Meer, E. van Meegen
Publikováno v: Blood Coagulation & Fibrinolysis, 13, 733-739. Lippincott Williams & Wilkins
Coumarin anticoagulants impair the biological activity of the vitamin K-dependent procoagulant and anticoagulant proteins. There are no reports that focus on the levels of these proteins in over-anticoagulated patients. Therefore, we determined the l
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3e4f0312f8f360f147cdce3526ca938
https://pure.eur.nl/en/publications/1bfb03be-9baa-43c8-939c-2e5892fd152c
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9
Hypercoagulability states in upper-extremity deep venous thrombosis
Autor: F W, Leebeek, N A, Stadhouders, D, van Stein, E B, Gómez-García, M C, Kappers-Klunne
Publikováno v: American journal of hematology. 67(1)
Deep venous thrombosis of the upper extremity (DVTUE) is a rare thrombotic disorder that may occur spontaneously but is most often related to predisposing factors, such as an indwelling central venous catheter, malignancy, or exercise. The role of co
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9c38ea998eee01fa33b964e78ac45070
https://pubmed.ncbi.nlm.nih.gov/11279652
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10
Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII deficiency
Autor: E B, Gómez García, S R, Poort, J, Stibbe, A, Sturk, M C, Schaap, M, Kappers, R M, Bertina
Publikováno v: British journal of haematology. 112(2)
Congenital factor XIII (FXIII) deficiency is a rare autosomal recessive disorder, usually attributed to a defect in the FXIII A subunit, whose genetic basis has been studied in a number of cases. We describe here the genetic variations found in two u
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c875d744a96d806981c5bb474f006d77
https://pubmed.ncbi.nlm.nih.gov/11167856
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