Detalhe da pesquisa
1.
Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay.
Am J Med Genet A
; 170A(5): 1325-9, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26834018
2.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-38803632
3.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37575996
4.
Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer.
JCO Precis Oncol
; 7: e2300039, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37384868
5.
A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.
PLoS One
; 17(2): e0264056, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35176117
6.
Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group.
Fam Cancer
; 20(4): 327-336, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32888134
7.
Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region.
Mol Cytogenet
; 10: 34, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28912834
8.
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Eur J Med Genet
; 58(5): 279-92, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25792522
9.
Melanoma and other malignant skin cancers in psoriatic patients treated with phototherapy. Role of the p16 protein in psoriasis.
Folia Histochem Cytobiol
; 50(4): 491-6, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23264210