Zobrazeno 1 - 10
of 64
pro vyhledávání: '"EMBERGER SYNDROME"'
Publikováno v:
The EuroBiotech Journal, Vol 2, Iss s1, Pp 19-21 (2018)
Emberger Syndrome (ES) is a very rare genetic disorder associated with primary lymphedema, myelodysplasia and immunodeficiency. The syndrome has autosomal dominant inheritance with incomplete penetrance. Sporadic cases caused by de novo germinal muta
Externí odkaz:
https://doaj.org/article/7eed49e8c5704678900e4152d208b08b
Autor:
Emre Zafer, Hasan Yüksel
Publikováno v:
Turkish Journal of Obstetrics and Gynecology
Turkish Journal of Obstetrics and Gynecology, Vol 18, Iss 1, Pp 65-67 (2021)
Turkish Journal of Obstetrics and Gynecology, Vol 18, Iss 1, Pp 65-67 (2021)
Immune system vulnerability seems to play a significant role in the development and malignant transformation of pre-malignant squamous cell lesions. Emberger syndrome is a condition that affects the immune system, which is caused by GATA2 gene mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a2bca30bdb6b6c7091499af3481a63f
http://europepmc.org/articles/PMC7962163
http://europepmc.org/articles/PMC7962163
Autor:
René Hägerling
Publikováno v:
Phlebologie. 49:242-248
Introduction Lymphovascular diseases represent a heterogenous group of inherited and sporadic disorders and refer to a range of possible underlying pathologies and pathogenesis.Emberger Syndrome, an inherited form of lymphedema, is characterized by b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::39e75cb54caa9333d38b4a00fdabb101
https://doi.org/10.1055/a-1191-8380
https://doi.org/10.1055/a-1191-8380
Akademický článek
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Publikováno v:
The EuroBiotech Journal, Vol 2, Iss s1, Pp 19-21 (2018)
Emberger Syndrome (ES) is a very rare genetic disorder associated with primary lymphedema, myelodysplasia and immunodeficiency. The syndrome has autosomal dominant inheritance with incomplete penetrance. Sporadic cases caused by de novo germinal muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27ace621362749bd19093cef55c0604f
https://doaj.org/article/7eed49e8c5704678900e4152d208b08b
https://doaj.org/article/7eed49e8c5704678900e4152d208b08b
Autor:
Victor Dahl Mathiasen, Marie Louise Naestholt Jensen, Jeppe Sylvest Nielsen, Marinne Ifversen
Publikováno v:
Jensen, M L N, Mathiasen, V D, Ifversen, M & Nielsen, J S A 2020, ' Severe influenza in a paediatric patient with GATA2 deficiency and Emberger syndrome ', BMJ Case Reports, vol. 13, no. 12, e236521 . https://doi.org/10.1136/bcr-2020-236521
BMJ Case Rep
BMJ Case Rep
A 9-year-old girl was admitted to the paediatric intensive care unit with acute respiratory failure due to influenza. Nine months earlier, she presented with unexplained lymphoedema of the lower extremities and monocytopenia. She had a history of occ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70541981ba8e193e17543d68ea876d95
https://pure.au.dk/portal/da/publications/severe-influenza-in-a-paediatric-patient-with-gata2-deficiency-and-emberger-syndrome(4cdb927c-d9e4-43cf-a302-7a49df088a12).html
https://pure.au.dk/portal/da/publications/severe-influenza-in-a-paediatric-patient-with-gata2-deficiency-and-emberger-syndrome(4cdb927c-d9e4-43cf-a302-7a49df088a12).html
Autor:
Moheieldin Abouzied, Moneerah AlGassim, Saleem AlShehri, Ahad F. Al Seraihi, Majed Dasouki, Saleh AlReshoodi, AlFadel AlShaibani, Walter Conca, Issam Hamadah, Farrukh Sheikh
Publikováno v:
Hematology/Oncology and Stem Cell Therapy.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ab9548d441f76026de8e240daefceda
https://doi.org/10.1016/j.hemonc.2020.05.004
https://doi.org/10.1016/j.hemonc.2020.05.004
Akademický článek
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Autor:
Ritsuko Shimizu, Masayuki Yamamoto
Publikováno v:
Atlas of Genetics and Cytogenetics in Oncology and Haematology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a5fa5d131e9f96098e94cca54afb864a
https://doi.org/10.4267/2042/66062
https://doi.org/10.4267/2042/66062
Akademický článek
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