Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Part 2: Symposium"'
Treatment of thalassemia depends on the clinical diagnosis. Almost all severe alpha thalassemia, Hb Bart’s hydrops fetalis, die intra utero or a few minute after birth. However, pregnant woman with Hb Bart’s hydrops fetus may develop toxemia of p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmc_________::9f43831af25b744ae02dda0e373159c8
https://europepmc.org/articles/PMC4563435/
https://europepmc.org/articles/PMC4563435/
Autor:
Vicente, C.T., Edwards, S.L., Hillman, K.M., Kaufmann, S., Mitchell, H., Glubb, D.M., Lee, J.S., Bain, L., French, J.D., Ferreira, M.A.R.
The gene(s) whose expression is regulated by allergy risk variants is unknown for many loci identified through genome-wide association studies. Addressing this knowledge gap might point to new therapeutic targets for allergic disease. The aim of this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmc_________::053443f26409c7eccad92dc714a64e2a
https://europepmc.org/articles/PMC4563483/
https://europepmc.org/articles/PMC4563483/
Autor:
Nguyen, Hoang Nam
Thalassemia is a common inherited hemoglobin disorder in Vietnam. The alpha thalassemia, beta thalassemia, and HbE are popular in Vietnam but its variance depends on ethnics. The research for frequency of some ethnics almost in electrophoresis includ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmc_________::f31c6fd180dd2253b21467b1dece03f9
https://europepmc.org/articles/PMC4563497/
https://europepmc.org/articles/PMC4563497/
Autor:
Tomatsu, Shunji
Patients with mucopolysaccharidoses (MPS) have accumulation of glycosaminoglycans in multiple tissues which may cause coarse facial features, mental retardation, recurrent ear and nose infections, inguinal and umbilical hernias, hepatosplenomegaly, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmc_________::3c3cbeb9266b613a1c33b4be8c163bb7
https://europepmc.org/articles/PMC4563430/
https://europepmc.org/articles/PMC4563430/
Chromosome microarray analysis (CMA) is a sensitive method to identify submicroscopic changes too small to be detected by conventional karyotyping. Due to its high-sensitivity in identifying regions with structural variation and hence the genes invol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmc_________::946205fc4fea0d3806fd7378d1bab685
https://europepmc.org/articles/PMC4563548/
https://europepmc.org/articles/PMC4563548/
Autor:
Sillence, David
For 40 years the pathogenesis of the group of brittle bone disorders collectively named osteogenesis imperfect (OI) has been ascribed to mutations in type I collagen. Recent discoveries in matrix biology have transformed our perspectives on the role
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmc_________::c0ed14a7cd3f745890bc7b7fbc52490d
https://europepmc.org/articles/PMC4563385/
https://europepmc.org/articles/PMC4563385/
Autor:
Chung, Brian Hon-Yin
Preimplantation genetic diagnosis (PGD) is a technology used to determine whether a genetic or chromosomal disorder is present in embryos during an in-vitro fertilization (IVF) cycle. PGD screens embryos prior to their transfer to the uterus. Initial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmc_________::2e994c75c581167121d2488cc37436a5
https://europepmc.org/articles/PMC4563436/
https://europepmc.org/articles/PMC4563436/