Detalhe da pesquisa
1.
Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing.
Acta Obstet Gynecol Scand
; 2024 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38872454
2.
Detection rates and residual risk for a postnatal diagnosis of an atypical chromosome aberration following combined first-trimester screening.
Prenat Diagn
; 40(7): 852-859, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32274819
3.
Preimplantation genetic testing legislation and accessibility in the Nordic countries.
Acta Obstet Gynecol Scand
; 99(6): 716-721, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32103489
4.
Preimplantation genetic testing practices in the Nordic countries.
Acta Obstet Gynecol Scand
; 99(6): 707-715, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32034767
5.
Analysis of cell-free fetal DNA in maternal blood for detection of trisomy 21, 18 and 13 in a general pregnant population and in a high risk population - a systematic review and meta-analysis.
Acta Obstet Gynecol Scand
; 96(1): 7-18, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27779757
6.
Knowledge and Attitudes Regarding Non-Invasive Prenatal Testing (NIPT) and Preferences for Risk Information among High School Students in Sweden.
J Genet Couns
; 26(3): 447-454, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27480089
7.
Amplification-free sequencing of cell-free DNA for prenatal non-invasive diagnosis of chromosomal aberrations.
Genomics
; 105(3): 150-8, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25543032
8.
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
Nat Genet
; 39(9): 1134-9, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17676042
9.
Fetal membrane cells for treatment of steroid-refractory acute graft-versus-host disease.
Stem Cells
; 31(3): 592-601, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23307526
10.
Molecular and cytogenetic analysis in stillbirth: results from 481 consecutive cases.
Fetal Diagn Ther
; 36(4): 326-32, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25059832
11.
Imprinting disorders in children conceived with assisted reproductive technology in Sweden.
Fertil Steril
; 2024 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38825304
12.
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Genome Med
; 13(1): 40, 2021 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33726816
13.
On the origin of the maternal age effect in trisomy 21 Down syndrome: the Oocyte Mosaicism Selection model.
Reproduction
; 139(1): 1-9, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19755486
14.
Chimerism resulting from parthenogenetic activation and dispermic fertilization.
Am J Med Genet A
; 152A(9): 2277-86, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20803645
15.
Confined placental mosaicism of Duchenne muscular dystrophy: a case report.
Mol Cytogenet
; 13(1): 51, 2020 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33334361
16.
Fetal HLA-G mediated immune tolerance and interferon response in preeclampsia.
EBioMedicine
; 59: 102872, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32680723
17.
Jumping translocation in a phenotypically normal male: A study of mosaicism in spermatozoa, lymphocytes, and fibroblasts.
Am J Med Genet A
; 149A(8): 1706-11, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19610103
18.
Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.
PLoS One
; 14(1): e0210017, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30615648
19.
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Genome Med
; 11(1): 68, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31694722
20.
Expanded HSAN4 phenotype associated with two novel mutations in NTRK1.
Neuromuscul Disord
; 18(8): 681-4, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18657423