Zobrazeno 1 - 8
of 8
pro vyhledávání: '"primary lymphatic malformations"'
Autor:
Paolacci Stefano, Rakhmanov Yeltay, Maltese Paolo Enrico, Zulian Alessandra, Michelini Sandro, Bertelli Matteo
Publikováno v:
The EuroBiotech Journal, Vol 2, Iss s1, Pp 5-9 (2018)
Lymphatic malformations (LMs) show phenotypic variability, as well as clinical and genetic heterogeneity. Inheritance is autosomal dominant, recessive or X-linked and major genes involved in predisposition for LMs are continuously being discovered. T
Externí odkaz:
https://doaj.org/article/5b010121aea747a9aecf1914c9bafa42
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
Publikováno v:
The EuroBiotech Journal, Vol 2, Iss s1, Pp 16-18 (2018)
Hennekam Syndrome (HS) is a combination of congenital lymphatic malformation, lymphangiectasia and other disorders. It is a very rare disorder with autosomal recessive inheritance. We developed the test protocol “Hennekam Syndrome” on the basis o
Externí odkaz:
https://doaj.org/article/d34b240a157a46ae9c165c8cfc01cb7b
Publikováno v:
The EuroBiotech Journal, Vol 2, Iss s1, Pp 10-12 (2018)
Variants affecting the function of genes in the RAS–mitogen-activated protein kinase (MAPK) signal transduction pathway have been identified as responsible for a group of developmental syndromes known as RASopathies. Noonan (NS) and cardiofaciocuta
Externí odkaz:
https://doaj.org/article/99947a3b00c84cbcb250c5d8af4d3c82
Autor:
Matteo Bertelli, Yeltay Rakhmanov, Stefano Paolacci, Paolo Enrico Maltese, Alessandra Zulian, Sandro Michelini
Publikováno v:
The EuroBiotech Journal, Vol 2, Iss s1, Pp 5-9 (2018)
Lymphatic malformations (LMs) show phenotypic variability, as well as clinical and genetic heterogeneity. Inheritance is autosomal dominant, recessive or X-linked and major genes involved in predisposition for LMs are continuously being discovered. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80e64e5d90f39b44ed3ea2c7add53358
https://doi.org/10.2478/ebtj-2018-0024
https://doi.org/10.2478/ebtj-2018-0024
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
Publikováno v:
The EuroBiotech Journal, Vol 2, Iss s1, Pp 10-12 (2018)
Variants affecting the function of genes in the RAS–mitogen-activated protein kinase (MAPK) signal transduction pathway have been identified as responsible for a group of developmental syndromes known as RASopathies. Noonan (NS) and cardiofaciocuta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::551ded8f74019ea4aab26a822685eaae
https://doaj.org/article/99947a3b00c84cbcb250c5d8af4d3c82
https://doaj.org/article/99947a3b00c84cbcb250c5d8af4d3c82
Publikováno v:
The EuroBiotech Journal, Vol 2, Iss s1, Pp 16-18 (2018)
Hennekam Syndrome (HS) is a combination of congenital lymphatic malformation, lymphangiectasia and other disorders. It is a very rare disorder with autosomal recessive inheritance. We developed the test protocol “Hennekam Syndrome” on the basis o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0932ceca19ec76564e2147fc72276a9d
https://doaj.org/article/d34b240a157a46ae9c165c8cfc01cb7b
https://doaj.org/article/d34b240a157a46ae9c165c8cfc01cb7b