Detalhe da pesquisa
1.
Estimation of carrier frequencies utilizing the gnomAD database for ACMG recommended carrier screening and Finnish disease heritage conditions in non-Finnish European, Finnish, and Ashkenazi Jewish populations.
Am J Med Genet A
; : e63588, 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459613
2.
Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.
Am J Med Genet A
; 182(11): 2605-2610, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32902138
3.
SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.
Am J Med Genet A
; 179(7): 1362-1365, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31059209
4.
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
Brain
; 140(5): 1267-1279, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28335020
5.
The Value of FLG Null Mutations in Predicting Treatment Response in Atopic Dermatitis: An Observational Study in Finnish Patients.
Acta Derm Venereol
; 97(4): 456-463, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27840886
6.
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
Am J Med Genet A
; 164A(7): 1713-33, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24782230
7.
Comprehensive Inherited Risk Estimation for Risk-Based Breast Cancer Screening in Women.
J Clin Oncol
; 42(13): 1477-1487, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38422475
8.
Phenotype mining in CNV carriers from a population cohort.
Hum Mol Genet
; 20(13): 2686-95, 2011 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21505072
9.
Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene.
Am J Hum Genet
; 86(2): 285-91, 2010 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20159113
10.
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.
J Med Genet
; 49(6): 391-9, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22693283
11.
Relevance of Coding Variation in FLG And DOCK8 in Finnish Pediatric Patients with Early-Onset Moderate-To-Severe Atopic Dermatitis.
JID Innov
; 3(4): 100203, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37533579
12.
Multi-exon COL5A1 deletion in a child with classical Ehlers-Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism.
Clin Case Rep
; 10(10): e6455, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36245460
13.
Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS.
Hum Mol Genet
; 18(9): 1670-83, 2009 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19221116
14.
Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.
Am J Hum Genet
; 82(6): 1361-7, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18513680
15.
The genome-wide patterns of variation expose significant substructure in a founder population.
Am J Hum Genet
; 83(6): 787-94, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19061986
16.
Consistently replicating locus linked to migraine on 10q22-q23.
Am J Hum Genet
; 82(5): 1051-63, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18423523
17.
Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.
PLoS One
; 13(8): e0203313, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30157244
18.
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.
Eur J Hum Genet
; 13(3): 292-301, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15523498
19.
Genetic variations in IL6 associate with intervertebral disc disease characterized by sciatica.
Pain
; 114(1-2): 186-94, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15733644
20.
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity.
Eur J Hum Genet
; 21(6): 659-65, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23249956