Detalles de la búsqueda
1.
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Brain
; 147(5): 1822-1836, 2024 May 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-38217872
2.
Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.
BMC Cancer
; 23(1): 368, 2023 Apr 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-37085799
3.
HPyV6 and HPyV7 in urine from immunocompromised patients.
Virol J
; 18(1): 24, 2021 01 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-33482864
4.
Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance.
Hum Genomics
; 12(1): 51, 2018 11 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-30458859
5.
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
Brain
; 139(Pt 8): 2154-63, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27259757
6.
A Role of Sp1 Binding Motifs in Basal and Large T-Antigen-Induced Promoter Activities of Human Polyomavirus HPyV9 and Its Variant UF-1.
Int J Mol Sci
; 18(11)2017 Nov 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-29135936
7.
Characterization of the non-coding control region of polyomavirus KI isolated from nasopharyngeal samples from patients with respiratory symptoms or infection and from blood from healthy blood donors in Norway.
J Gen Virol
; 97(7): 1647-1657, 2016 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-27031170
8.
Early and late promoters of BK polyomavirus, Merkel cell polyomavirus, Trichodysplasia spinulosa-associated polyomavirus and human polyomavirus 12 are among the strongest of all known human polyomaviruses in 10 different cell lines.
J Gen Virol
; 96(8): 2293-2303, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-25968129
9.
Are human polyomaviruses co-factors for cancers induced by other oncoviruses?
Rev Med Virol
; 24(5): 343-60, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-24888895
10.
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
Brain
; 137(Pt 9): 2429-43, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-24951643
11.
Serological cross-reactivity between human polyomaviruses.
Rev Med Virol
; 23(4): 250-64, 2013 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-23650080
12.
Genome analysis of the new human polyomaviruses.
Rev Med Virol
; 22(6): 354-77, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-22461085
13.
Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020).
Neuromuscul Disord
; 33(2): 119-132, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36522254
14.
Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.
Genes (Basel)
; 14(2)2023 01 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-36833189
15.
BK virus-associated infection in cerebrospinal fluid of neurological patients and mutation analysis of the complete VP1 gene in different patient groups.
J Cell Physiol
; 227(1): 136-45, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21374594
16.
BK polyomavirus with archetypal and rearranged non-coding control regions is present in cerebrospinal fluids from patients with neurological complications.
J Gen Virol
; 93(Pt 8): 1780-1794, 2012 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-22552944
17.
Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene.
Neuromuscul Disord
; 32(1): 75-79, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34922802
18.
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.
Fam Cancer
; 21(4): 389-398, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34981296
19.
Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency.
JIMD Rep
; 63(3): 193-198, 2022 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-35433169
20.
Increased levels of BAFF in patients with systemic lupus erythematosus are associated with acute-phase reactants, independent of BAFF genetics: a case-control study.
Rheumatology (Oxford)
; 50(12): 2197-205, 2011 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-21984763