Detalhe da pesquisa
1.
Novel homozygous CD46 variant with C-isoform expression affects C3b inactivation in atypical hemolytic uremic syndrome.
Eur J Immunol
; 52(10): 1610-1619, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35987516
2.
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Hum Mutat
; 43(12): 1921-1944, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979650
3.
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
J Med Genet
; 54(7): 460-470, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28377535
4.
Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.
J Hum Genet
; 62(2): 151-157, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27734835
5.
Magnetic resonance neurography and diffusion tensor imaging of the peripheral nerves in patients with Charcot-Marie-Tooth Type 1A.
Muscle Nerve
; 56(6): E78-E84, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28500667
6.
Danish retinoblastoma patients 1943-2013 - genetic testing and clinical implications.
Acta Oncol
; 55(4): 412-7, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26494512
7.
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.
Hered Cancer Clin Pract
; 14: 13, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27279923
8.
Monodisperse and LPS-free Aggregatibacter actinomycetemcomitans leukotoxin: interactions with human ß2 integrins and erythrocytes.
Biochim Biophys Acta
; 1834(2): 546-58, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23234758
9.
Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy.
Hum Mutat
; 34(5): 697-705, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23381804
10.
Identification of epidermal progenitors for the Merkel cell lineage.
Development
; 137(23): 3965-71, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21041368
11.
Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe - A multi-professional survey study.
Eur J Med Genet
; 66(8): 104805, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37406854
12.
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Hum Mutat
; 33(3): 457-66, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22213154
13.
Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.
Breast Cancer Res Treat
; 132(3): 1009-23, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21769658
14.
Quantifying protein adsorption and function at nanostructured materials: enzymatic activity of glucose oxidase at GLAD structured electrodes.
Langmuir
; 28(30): 11106-14, 2012 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-22746098
15.
Assessment of the effect of 24-hour aldosterone administration on protein abundance in fluorescence-sorted mouse distal renal tubules by mass spectrometry.
Nephron Physiol
; 121(3-4): p9-15, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23428628
16.
Soft interactions at nanoparticles alter protein function and conformation in a size dependent manner.
Nano Lett
; 11(11): 4985-91, 2011 Nov 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-21981115
17.
Escherichia coli alpha-hemolysin triggers shrinkage of erythrocytes via K(Ca)3.1 and TMEM16A channels with subsequent phosphatidylserine exposure.
J Biol Chem
; 285(20): 15557-15565, 2010 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20231275
18.
p53 and PPP1R13L (alias iASPP or RAI) form a feedback loop to regulate genotoxic stress responses.
Biochim Biophys Acta
; 1800(12): 1231-40, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20840860
19.
A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing.
Breast Cancer Res Treat
; 128(1): 179-85, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21184276
20.
The CRISPR/Cas9 Minipig-A Transgenic Minipig to Produce Specific Mutations in Designated Tissues.
Cancers (Basel)
; 13(12)2021 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34208747