Detalhe da pesquisa
1.
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Genet Med
; 26(5): 101075, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38251460
2.
Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.
BMC Cancer
; 23(1): 368, 2023 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37085799
3.
Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay.
J Med Genet
; 59(2): 155-164, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443097
4.
DLG4-related synaptopathy: a new rare brain disorder.
Genet Med
; 23(5): 888-899, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597769
5.
Familial diarrhea syndrome caused by an activating GUCY2C mutation.
N Engl J Med
; 366(17): 1586-95, 2012 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-22436048
6.
Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.
Am J Med Genet A
; 164A(7): 1622-6, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24678003
7.
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
Am J Hum Genet
; 87(3): 410-7, 2010 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20797687
8.
Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.
Genes (Basel)
; 14(2)2023 01 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833189
9.
A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy.
Ann Neurol
; 80(2): 311-2, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27273810
10.
LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions.
Autism Res
; 15(3): 421-433, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35088940
11.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-34981296
12.
Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.
J Med Genet
; 47(9): 579-85, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20587412
13.
Antibody to CCDC104 is associated with a paraneoplastic antibody to CDR2 (anti-Yo).
Cancer Immunol Immunother
; 59(2): 231-7, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19680650
14.
The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?
Eur J Hum Genet
; 28(8): 1078-1086, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32203205
15.
GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies.
PLoS One
; 12(1): e0169309, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28052128
16.
BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study.
Eur J Hum Genet
; 24(6): 881-8, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26350514
17.
Paraneoplastic syndrome-associated neuronal antibodies in adult ADHD.
J Neuroimmunol
; 288: 87-91, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26531699
18.
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
Orphanet J Rare Dis
; 9: 146, 2014 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-25258038
19.
Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
PLoS One
; 8(6): e66145, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23785480
20.
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.
Orphanet J Rare Dis
; 8: 1, 2013 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-23286897