Detalhe da pesquisa
1.
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Am J Hum Genet
; 110(11): 1959-1975, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37883978
2.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet
; 108(5): 857-873, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33961779
3.
Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis.
J Med Genet
; 60(1): 57-64, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34876502
4.
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
Am J Hum Genet
; 105(1): 213-220, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230721
5.
A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT.
J Clin Immunol
; 42(2): 404-420, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34893945
6.
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
Am J Med Genet A
; 188(1): 272-282, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34515416
7.
QT prolongation predicts short-term mortality independent of comorbidity.
Europace
; 21(8): 1254-1260, 2019 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31220237
8.
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon.
J Med Genet
; 59(10): 1024-1026, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35318247
9.
Next-generation sequencing of the monogenic obesity genes LEP, LEPR, MC4R, PCSK1 and POMC in a Norwegian cohort of patients with morbid obesity and normal weight controls.
Mol Genet Metab
; 121(1): 51-56, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28377240
10.
Clinical exome sequencing Norwegian findings.
Tidsskr Nor Laegeforen
; 135(20): 1833-7, 2015 Nov 03.
Artigo
em Inglês, Norueguês
| MEDLINE | ID: mdl-26534809
11.
Hereditary peripheral neuropathies diagnosed by next-generation sequencing.
Tidsskr Nor Laegeforen
; 135(20): 1838-44, 2015 Nov 03.
Artigo
em Inglês, Norueguês
| MEDLINE | ID: mdl-26534810
12.
Interaction between the ligand-binding domain of the LDL receptor and the C-terminal domain of PCSK9 is required for PCSK9 to remain bound to the LDL receptor during endosomal acidification.
Hum Mol Genet
; 21(6): 1402-9, 2012 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22156580
13.
Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction.
Endoscopy
; 46(6): 533-7, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24777424
14.
Repeat expansions in AR, ATXN1, ATXN2 and HTT in Norwegian patients diagnosed with amyotrophic lateral sclerosis.
Brain Commun
; 6(2): fcae087, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585669
15.
Characterization of a naturally occurring degradation product of the LDL receptor.
Mol Genet Metab
; 105(1): 149-54, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22078455
16.
Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors.
J Lipid Res
; 52(10): 1787-94, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21771976
17.
Removal of acidic residues of the prodomain of PCSK9 increases its activity towards the LDL receptor.
Biochem Biophys Res Commun
; 406(2): 234-8, 2011 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21324305
18.
Characterization of residues in the cytoplasmic domain of the LDL receptor required for exit from the endoplasmic reticulum.
Biochem Biophys Res Commun
; 415(4): 642-5, 2011 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-22079632
19.
The cytoplasmic domain is not involved in directing Class 5 mutant LDL receptors to lysosomal degradation.
Biochem Biophys Res Commun
; 408(4): 642-6, 2011 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-21531209
20.
A chimeric LDL receptor containing the cytoplasmic domain of the transferrin receptor is degraded by PCSK9.
Mol Genet Metab
; 99(2): 149-56, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19828345