Detalles de la búsqueda
1.
Whole-body MRI surveillance in TP53 carriers is perceived as beneficial with no increase in cancer worry regardless of previous cancer: Data from the Swedish TP53 Study.
Cancer;
129(6): 946-955, 2023 03 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-36601958
2.
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.
BMC Cancer;
23(1): 738, 2023 Aug 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37563628
3.
Merged testing for colorectal cancer syndromes and re-evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort.
Genes Chromosomes Cancer;
61(10): 585-591, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35430768
4.
Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder.
RNA;
26(11): 1654-1666, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32763916
5.
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
Genet Med;
24(11): 2296-2307, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-36066546
6.
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
Am J Med Genet B Neuropsychiatr Genet;
177(1): 10-20, 2018 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-28990276
7.
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Hum Mutat;
36(4): 454-62, 2015 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-25655089
8.
BCD020 rituximab bioanalog compared to standard treatment in juvenile systemic lupus erythematosus: The data of 12 months case-control study.
World J Clin Pediatr;
13(1): 89049, 2024 Mar 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-38596443
9.
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors-a nationwide, prospective Swedish study.
Lancet Reg Health Eur;
39: 100881, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38803632
10.
Case report: Sulfasalazine-induced hypersensitivity.
Front Med (Lausanne);
10: 1140339, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37293296
11.
Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation.
Front Med (Lausanne);
10: 1172565, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37575996
12.
Hereditary evaluation and genetic counselling in young individuals with colorectal cancer in a population-based cohort.
Surg Oncol;
41: 101741, 2022 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-35325783
13.
Whole-Body MRI Surveillance-Baseline Findings in the Swedish Multicentre Hereditary TP53-Related Cancer Syndrome Study (SWEP53).
Cancers (Basel);
14(2)2022 01 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-35053544
14.
Familial platelet disorder due to germline exonic deletions in RUNX1: a diagnostic challenge with distinct alterations of the transcript isoform equilibrium.
Leuk Lymphoma;
63(10): 2311-2320, 2022 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-35533071
15.
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.
NPJ Genom Med;
7(1): 11, 2022 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-35169139
16.
Interphase fluorescent in situ hybridization deletion analysis of the 9p21 region and prognosis in childhood acute lymphoblastic leukaemia (ALL): results from a prospective analysis of 519 Nordic patients treated according to the NOPHO-ALL 2000 protocol.
Br J Haematol;
152(5): 615-22, 2011 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-21241277
17.
A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients.
Sci Rep;
11(1): 14763, 2021 07 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-34285278
18.
Array-CGH reveals hidden gene dose changes in children with acute lymphoblastic leukaemia and a normal or failed karyotype by G-banding.
Br J Haematol;
140(5): 572-7, 2008 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-18275435
19.
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis.
Orphanet J Rare Dis;
11: 1, 2016 Jan 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-26728142
20.
Identification of the best cutoff points and clinical signs specific for early recognition of macrophage activation syndrome in active systemic juvenile idiopathic arthritis.
Semin Arthritis Rheum;
44(4): 417-22, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25300700