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of 109
pro vyhledávání: '"genetic translocation"'
Akademický článek
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Publikováno v:
Journal of Family and Reproductive Health, Vol 15, Iss 4 (2021)
Objective: 45, X is a very rare condition that usually results from Y/autosomal translocations or insertions. Here we present an infertile azoospermic man who had 45, X t(Yp;15) karyotype and deletion of AZF (azoospermia factor) gene region. Case rep
Externí odkaz:
https://doaj.org/article/cedfdeeee40c45f1b63647b45599ec56
Autor:
Zahra Razavi, Hossein Emad Momtaz
Publikováno v:
Iranian Journal of Medical Sciences, Vol 42, Iss 2, Pp 210-214 (2017)
Chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner sy
Externí odkaz:
https://doaj.org/article/b334f10e4df34d4ca5ec5bfaf03773ae
Autor:
Forest, George Tali, Alexandra E. Payne, Thomas J. Hudson, Sabrina Daniela da Silva, Marc Pusztaszeri, Michael Tamilia, Véronique-Isabelle
Publikováno v:
Cancers; Volume 15; Issue 13; Pages: 3394
Background: Molecular testing has been used as an adjunct to morphological evaluation in the workup of thyroid nodules. This study investigated the impact of two gene fusions, RET/PTC and THADA/IGF2BP3, that have been described as oncogenic events in
Akademický článek
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Autor:
Nicholas C.P. Cross, Cristina R. Antonescu, Felix Mitelman, Rosalind J. Hastings, Raymond Dalgleish, Bertil Johansson, Arul M. Chinnaiyan, Andrew J. Carroll, Robert Peter Gale, Elspeth A. Bruford, Michelle M. Le Beau, Cristina Mecucci, Jean Loup Huret, Roel G.W. Verhaak, Ian A. Cree, Fredrik Mertens, Christine J. Harrison
Publikováno v:
Leukemia, 35(11), 3040-3043. Nature Publishing Group
Bruford, E A, Antonescu, C R, Carroll, A J, Chinnaiyan, A, Cree, I A, Cross, N C P, Dalgleish, R, Gale, R P, Harrison, C J, Hastings, R J, Huret, J-L, Johansson, B, le Beau, M, Mecucci, C, Mertens, F, Verhaak, R & Mitelman, F 2021, ' HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusions ', Leukemia, vol. 35, no. 11, pp. 3040-3043 . https://doi.org/10.1038/s41375-021-01436-6
Leukemia
Bruford, E A, Antonescu, C R, Carroll, A J, Chinnaiyan, A, Cree, I A, Cross, N C P, Dalgleish, R, Gale, R P, Harrison, C J, Hastings, R J, Huret, J-L, Johansson, B, le Beau, M, Mecucci, C, Mertens, F, Verhaak, R & Mitelman, F 2021, ' HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusions ', Leukemia, vol. 35, no. 11, pp. 3040-3043 . https://doi.org/10.1038/s41375-021-01436-6
Leukemia
Gene fusions have been discussed in the scientific literature since they were first detected in cancer cells in the early 1980s. There is currently no standardized way to denote the genes involved in fusions, but in the majority of publications the g
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Scientific Reports
Scientific Reports
The frequency and distribution of chromosomal abnormalities and the impact of parental chromosomal aberration on the pregnancy outcomes of couples with recurrent pregnancy loss remains controversial. 3235 RPL couples who experienced two or more misca
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 18, Iss 3, Pp 111-115 (2013)
Purpose45,XY,t(13;14)(q10;q10) karyotype can suggest infertility associated with more or less severe oligospermia in male adults. In addition, 45,XX,t(13;14)(q10;q10) karyotype carries reproductive risks such as miscarriage or infertility in female a
Externí odkaz:
https://doaj.org/article/2a90628ad68947e3811fe0f155093ee0
Mantle Zone Cell Lymphomas. New Opportunities for Diagnosis and Treatment (Epidemiological Research)
Publikováno v:
Креативная хирургия и онкология, Vol 9, Iss 4, Pp 261-265 (2020)
Introduction. Mantle cell lymphoma is a rare type of B-cell non-Hodgkin lymphoma. According to statistics the incidence of this disorder amounts to 2-3 per 100,000 people; this is about 6% of all non-Hodgkin lymphomas. It has been established that va
Autor:
Željko Antić, Sabine Strehl, Agata Pastorczak, Rob Pieters, Kentaro Ohki, Steve Hoffmann, Monique L. den Boer, Claire Schwab, Hélène Cavé, Anja Möricke, Enrique Carrillo de Santa Pau, Paola De Lorenzo, Tanja A. Gruber, Femke M. Hormann, Andishe Attarbaschi, Chloé Arfeuille, Frédéric Lambert, Ronald W. Stam, Christine J. Harrison, Rosemary Sutton, Marketa Zaliova, Tim Lammens, Toshihiko Imamura, Gabriele Escherich, Judith M. Boer, Maria Grazia Valsecchi, Giovanni Cazzaniga, Anke K. Bergmann, Chi Kong Li
Publikováno v:
Leukemia, 35(10), 2978-2982. Nature Publishing Group
LEUKEMIA
Leukemia
LEUKEMIA
Leukemia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f60375d46a4d2047696331c40089fb74
https://pure.eur.nl/en/publications/6f593ae5-e308-40c5-b120-ffc09327c080
https://pure.eur.nl/en/publications/6f593ae5-e308-40c5-b120-ffc09327c080