Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Hilde Tveitan Hilmarsen"'
Autor:
Sissel Løseth, Helle Høyer, Kim-Mai Le, Eric Delpire, Einar Kinge, Asgeir Lande, Hilde Tveitan Hilmarsen, Toril Fagerheim, Øivind Nilssen, Geir Julius Braathen
Publikováno v:
Brain. 146:912-922
We describe five families from different regions in Norway with a late-onset autosomal-dominant hereditary polyneuropathy sharing a heterozygous variant in the SLC12A6 gene. Mutations in the same gene have previously been described in infants with au
Autor:
Denis Khnykin, Nouh Al Mahroqi, Geir J. Braathen, Buthaina Al-Musalhi, Hilde Tveitan Hilmarsen, Hilal Al Mandhari
Publikováno v:
International Journal of Dermatology. 60:368-371
Ichthyosis prematurity syndrome (IPS) is a rare type of syndromic autosomal recessive congenital ichthyosis (ARCI) caused by a mutation in the SLC27A4 gene that encodes the fatty acid transport protein 4 (FATP4), which is responsible for keratinocyte
Autor:
Geir J. Braathen, Federica Taioli, Gian Maria Fabrizi, Helle Høyer, Giampietro Zanette, Tiziana Cavallaro, Giovanna Squintani, Hilde Tveitan Hilmarsen
The Tropomyosin-receptor kinase fused gene (TFG) encodes TFG which is expressed in spinal motor neurons, dorsal root ganglia and cranial nerve nuclei, and plays a role in the dynamics of the endoplasmic reticulum. Two dominant missense TFG mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8351ae73a699c07564dde2e89e82240b
http://hdl.handle.net/11562/1011198
http://hdl.handle.net/11562/1011198
Autor:
Øyvind L. Busk, Helle Høyer, Camilla Furu Skjelbred, Geir J. Braathen, Hilde Tveitan Hilmarsen, Linda Strand, Anette Bakken, Kristian Tveten, Øystein L. Holla
Publikováno v:
Tidsskrift for Den norske legeforening. 135:1833-1837
BACKGROUND New DNA-sequencing technology is revolutionising medical diagnostics. Through the use of exome sequencing, it is now possible to sequence all human genes in parallel. This technology has been widely used in research over the last few years
Autor:
Renu George, Finn P. Reinholt, Sridhar Santhanam, Geir J. Braathen, Aaron Chapla, Hilde Tveitan Hilmarsen, Denis Khnykin, Frode L. Jahnsen, Rekha Samuel
Publikováno v:
Clinical Case Reports
Key Clinical Message Ichthyosis prematurity syndrome (IPS) is reported mainly from Scandinavia where most of the cases are homozygous or compound heterozygous for the nonsense mutation c.504C>A (p.Cys168*) in exon3 indicating a common ancestor for th
Telomere length and LINE1 methylation is associated with chromosomal aberrations in peripheral blood
Autor:
Maria Albin, Hilde Tveitan Hilmarsen, Mohammad Bakhtiar Hossain, Karin Broberg, Jonas Björk, Huiqi Li, Inger-Lise Hansteen, Camilla Furu Skjelbred
Publikováno v:
Genes, Chromosomes and Cancer. 52:1-10
The frequency of chromosomal aberrations in peripheral blood predicts a probable cancer risk. The individual telomere length and methylation of repetitive elements may be susceptibility factors for chromosomal aberrations. A cohort of healthy Norwegi
Publikováno v:
Gynecological Endocrinology. 28:845-849
Ovarian hyperstimulation syndrome (OHSS) is a serious complication following controlled ovarian hyperstimulation (COH) for in vitro fertilization. OHSS has a range of clinical features from mild abdominal distention to severe thromboembolic events. S
Publikováno v:
Reproductive BioMedicine Online. 23:97-104
There is substantial variability in ovarian response to exogenous gonadotrophins in women undergoing ovarian stimulation for IVF. Genetic variation in signalling pathways of the ovary may influence ovarian stimulation outcome. One previous study show
Autor:
Linda Strand, Øyvind L. Busk, Camilla Furu Skjelbred, Geir J. Braathen, Helle Høyer, Øystein L. Holla, Hilde Tveitan Hilmarsen, Michael Bjørn Russell, Marit Svendsen
Publikováno v:
BioMed Research International, Vol 2014 (2014)
BioMed Research International
BioMed Research International
Charcot-Marie-Tooth (CMT) disease is the most prevalent inherited neuropathy. Today more than 40 CMT genes have been identified. Diagnosing heterogeneous diseases by conventional Sanger sequencing is time consuming and expensive. Thus, more efficient
Autor:
Michael Bjørn Russell, Hilde Tveitan Hilmarsen, Camilla Furu Skjelbred, Helle Høyer, Geir J. Braathen, Øystein L. Holla, Marit Svendsen, Øyvind L. Busk, Linda Strand
Publikováno v:
BioMed Research International, Vol 2015 (2015)
In Table 4 and Supplemental Table 1 of the published paper entitled “Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing” [1], we classified two variants as likely pathogenic. These two variants ({"type"