Detalhe da pesquisa
1.
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
Am J Med Genet A
; 191(7): 1722-1740, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36987741
2.
Genetic and functional insights into CDA-I prevalence and pathogenesis.
J Med Genet
; 58(3): 185-195, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32518175
3.
Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis.
Int J Mol Sci
; 23(16)2022 Aug 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36012658
4.
A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.
Clin Genet
; 99(2): 325-329, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33174625
5.
Celiprolol Treatment in Patients with Vascular Ehlers-Danlos Syndrome.
Eur J Vasc Endovasc Surg
; 61(2): 326-331, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33223285
6.
A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.
BMC Med Genet
; 21(1): 90, 2020 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32370745
7.
Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.
Clin Genet
; 96(2): 118-125, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30919936
8.
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.
Clin Genet
; 95(5): 607-614, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30859550
9.
Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing.
Hum Mutat
; 39(9): 1262-1272, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29932473
10.
A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.
Am J Med Genet A
; 176(6): 1405-1410, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29663639
11.
Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis.
BMC Med Genet
; 18(1): 74, 2017 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28720088
12.
Sudden cardiac death among the young in Sweden from 2000 to 2010: an autopsy-based study.
Europace
; 19(8): 1327-1334, 2017 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28873959
13.
A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.
Prenat Diagn
; 37(11): 1146-1154, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28921562
14.
Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes.
Hereditas
; 154: 16, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29270100
15.
A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description.
BMC Med Genet
; 17(1): 61, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27586135
16.
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
J Hum Genet
; 61(8): 693-9, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27193221
17.
Genetic screening in sudden cardiac death in the young can save future lives.
Int J Legal Med
; 130(1): 59-66, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26228265
18.
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Hum Mutat
; 35(5): 521-31, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24599544
19.
Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families.
BMC Cardiovasc Disord
; 14: 22, 2014 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-24552659
20.
[Familial thoracic aortic aneurysms and dissections can be divided into three different main categories]. / Familjära torakala aortaaneurysm och dissektioner - flera former finns.
Lakartidningen
; 111(9-10): 399-403, 2014 Feb 25.
Artigo
em Sueco
| MEDLINE | ID: mdl-24570135