Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Klari Noormets"'
Autor:
Inga Talvik, Tiina Talvik, Katrin Õunap, Valentin Sander, Ulvi Vaher, Tiia Reimand, Pilvi Ilves, Klari Noormets, Stella Lilles
Publikováno v:
Neuropediatrics. 47:361-367
Cyclin-dependent kinase-like 5 (CDKL5) gene mutations have mainly been found in females with early infantile epileptic encephalopathy (EIEE), severe intellectual disability, and Rett-like features. To date, only 22 boys have been reported, presenting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::557aabed83487daa9bcdc29f36da9504
https://doi.org/10.1055/s-0036-1586730
https://doi.org/10.1055/s-0036-1586730
Autor:
Inga Talvik, Katrin Õunap, Klari Noormets, Pilvi Ilves, Tiina Talvik, Anneli Kolk, Rael Laugesaar, Aita Napa, Reet Rein, Tiia Reimand, Ulvi Vaher, Eve Õiglane-Shlik, Oivi Uibo, Kadi Veri
Publikováno v:
Journal of child neurology. 33(9)
The aim of this prospective epidemiological study was to establish the incidence rate of childhood epilepsy in Estonia, to describe the clinical spectrum and to identify etiology of childhood epilepsy. The overall incidence rate was 86.3/100 000. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b04a9db885c5cbb66c2fe11248884b2
https://pubmed.ncbi.nlm.nih.gov/29862897
https://pubmed.ncbi.nlm.nih.gov/29862897
Autor:
Andres Arend, Eero Vasar, Marilin Ivask, Klari Noormets, Sulev Kõks, Marina Aunapuu, Vallo Tillmann
Publikováno v:
Experimental and Clinical Endocrinology & Diabetes
There is no data about the energy metabolism of patients with Wolfram syndrome caused by mutations in the wolframin (Wfs1) gene. The aim of this study was to investigate the role of Wfs1 in energy metabolism and thyroid function in Wfs1 deficient mic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c64afac7efd5bcd365a1caa7b026659
https://doi.org/10.1055/s-0034-1372582
https://doi.org/10.1055/s-0034-1372582
Autor:
Klari Noormets, Eero Vasar, Anton Terasmaa, Mario Plaas, Cathy Fernandes, Leonard C. Schalkwyk, Ursel Soomets, Sulev Kõks, Vallo Tillmann
Publikováno v:
Physiological Genomics. 43:1351-1358
The Wfs1 gene codes for a protein with unknown function, but deficiency in this protein results in a range of neuropsychiatric and neuroendocrine syndromes. In the present study we aimed to find the functional networks influenced by Wfs1 in the hypot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a56ffda9afa01586a718ce9b676aff7c
https://doi.org/10.1152/physiolgenomics.00117.2011
https://doi.org/10.1152/physiolgenomics.00117.2011
Publikováno v:
Experimental and clinical endocrinologydiabetes : official journal, German Society of Endocrinology [and] German Diabetes Association. 119(5)
Wolfram syndrome, caused by mutations in the wolframin (Wfs1) gene, is characterised by juvenile-onset diabetes mellitus, progressive optic atrophy, diabetes insipidus and deafness. Diabetes tend to start earlier in boys. This study investigated sex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c790da072eaf59a7d69a78460d362e91
https://pubmed.ncbi.nlm.nih.gov/21031341
https://pubmed.ncbi.nlm.nih.gov/21031341
Autor:
Vallo Tillmann, Ants Kavak, Andres Arend, Klari Noormets, Sulev Kõks, Aivi Keldrimaa, Eero Vasar, Marina Aunapuu
Publikováno v:
Reproductive Biology and Endocrinology, Vol 7, Iss 1, p 82 (2009)
Reproductive Biology and Endocrinology : RB&E
Reproductive Biology and Endocrinology : RB&E
Background Wolfram Syndrome (WS) is an autosomal recessive disorder characterised by non-autoimmune diabetes mellitus, optic atrophy, cranial diabetes insipidus and sensorineural deafness. Some reports have described hypogonadism in male WS patients.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::feeda16c4487bfabb3fd830102ead3c2
https://doi.org/10.1186/1477-7827-7-82
https://doi.org/10.1186/1477-7827-7-82
Autor:
Ursel Soomets, Eero Vasar, Cathy Fernandes, Jose L. Paya-Cano, Klari Noormets, Mario Plaas, Anton Terasmaa, Sulev Kõks, Leonard C. Schalkwyk, Hendrik Luuk, Vallo Tillmann
Publikováno v:
Physiological genomics. 37(3)
The aim of present study was to describe changes in gene expression in the temporal lobe of mice induced by deletion of the Wfs1 gene. Temporal lobes samples were analyzed using Affymetrix Mouse Genome 420 2 GeneChips and expression profiles were fun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b992632600bd43f304d67d40556a4a28
https://pubmed.ncbi.nlm.nih.gov/19293327
https://pubmed.ncbi.nlm.nih.gov/19293327