Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Anna Sandestig"'
Publikováno v:
Molecular Syndromology. 10:281-285
The DLG3 gene is located at Xq13.1 and encodes SAP102, a member of the MAGUK protein family, extensively expressed in the brain and involved in synaptic function. Mutations in DLG3 are associated with a rare nonsyndromic form of X-linked intellectual
Autor:
Margarita Stefanova, Alexander Pepler, Saskia Biskup, Anna Sandestig, Anja Holz, Per Odelberg-Johnsson, Ingela Danielsson, Karolina Engström
Publikováno v:
Molecular Syndromology. 10:313-319
There is no clearly established association between the gene NUP188 and human pathology. Only a few reports of patients with different clinical presentation and different heterozygous or compound heterozygous missense or splice region variants have b
Autor:
Saskia Biskup, Anna Gréen, Alexander Pepler, Katarina Ellnebo, Johan Wahlström, Hartmut Vogt, Jon Jonasson, Anna Sandestig, Margarita Stefanova
Publikováno v:
Molecular Syndromology. 9:259-265
The beta-actin gene encodes 1 of 6 different actin proteins. De novo heterozygous missense mutations in ACTB have been identified in patients with Baraitser-Winter syndrome (BRWS) and also in patients with developmental disorders other than BRWS, suc
Publikováno v:
Mol Syndromol
The DLG3 gene is located at Xq13.1 and encodes SAP102, a member of the MAGUK protein family, extensively expressed in the brain and involved in synaptic function. Mutations in DLG3 are associated with a rare nonsyndromic form of X-linked intellectual
Autor:
Anna, Sandestig, Anna, Green, Jon, Jonasson, Hartmut, Vogt, Johan, Wahlström, Alexander, Pepler, Katarina, Ellnebo, Saskia, Biskup, Margarita, Stefanova
Publikováno v:
Molecular syndromology. 9(5)
The beta-actin gene encodes 1 of 6 different actin proteins. De novo heterozygous missense mutations in ACTB have been identified in patients with Baraitser-Winter syndrome (BRWS) and also in patients with developmental disorders other than BRWS, suc
Publikováno v:
Therapeutic hypothermia and temperature management; 4(1), pp 10-20 (2014)
Great expectations have been raised about neuroprotection of therapeutic hypothermia in patients with traumatic brain injury (TBI) by analogy with its effects after heart arrest, neonatal asphyxia, and drowning in cold water. The aim of this study is