Detalhe da pesquisa
1.
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
Blood
; 129(16): 2266-2279, 2017 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28202457
2.
The DNA methylome of pediatric acute lymphoblastic leukemia.
Hum Mol Genet
; 18(21): 4054-65, 2009 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19679565
3.
Small molecule screen identifies differentiation-promoting compounds targeting genetically diverse acute myeloid leukaemia.
Br J Haematol
; 175(2): 342-346, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26567888
4.
Methylation Patterns and Chromatin Accessibility in Neuroendocrine Lung Cancer.
Cancers (Basel)
; 12(8)2020 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32707835
5.
The t(X;7)(q22;q34) in paediatric T-cell acute lymphoblastic leukaemia results in overexpression of the insulin receptor substrate 4 gene through illegitimate recombination with the T-cell receptor beta locus.
Br J Haematol
; 144(4): 546-51, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19055661
6.
[Speak plainly about medical education outside Sweden]. / Tala klarspråk om läkarutbildning utanför Sverige.
Lakartidningen
; 111(43): 1916, 2014.
Artigo
em Sueco
| MEDLINE | ID: mdl-25699338
7.
Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay.
BMC Med Genet
; 9: 2, 2008 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-18194513
8.
Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: an array-based genotype-phenotype correlation and a comprehensive review of previously published cases.
Epilepsy Res
; 81(1): 69-79, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18539002
9.
SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies.
Leukemia
; 32(5): 1106-1115, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29535429
10.
Ataxia-pancytopenia syndrome with SAMD9L mutations.
Neurol Genet
; 3(5): e183, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28852709
11.
Methylation and expression analyses of Pallister-Killian syndrome reveal partial dosage compensation of tetrasomy 12p and hypomethylation of gene-poor regions on 12p.
Epigenetics
; 11(3): 194-204, 2016 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26890086
12.
Multicolor fluorescence in situ hybridization characterization of cytogenetically polyclonal hematologic malignancies.
Cancer Genet Cytogenet
; 163(2): 180-3, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16337865
13.
Tiling resolution array-based comparative genomic hybridisation analyses of acute lymphoblastic leukaemias in children with Down syndrome reveal recurrent gain of 8q and deletions of 7p and 9p.
Br J Haematol
; 146(1): 113-5, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19344409
14.
The epigenetic landscape of aneuploidy: constitutional mosaicism leading the way?
Epigenomics
; 6(1): 45-58, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24579946
15.
Constitutional trisomy 8 mosaicism as a model for epigenetic studies of aneuploidy.
Epigenetics Chromatin
; 6(1): 18, 2013 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23816241
16.
Array-based comparative genomic hybridization characterization of cytogenetically polyclonal myeloid malignancies.
Cancer Genet Cytogenet
; 169(2): 179-80, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16938580
17.
dup(19)(q12q13.2): array-based genotype-phenotype correlation of a new possibly obesity-related syndrome.
Obesity (Silver Spring)
; 18(3): 580-7, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19763090
18.
Tiling resolution array comparative genomic hybridization, expression and methylation analyses of dup(1q) in Burkitt lymphomas and pediatric high hyperdiploid acute lymphoblastic leukemias reveal clustered near-centromeric breakpoints and overexpression of genes in 1q22-32.3.
Hum Mol Genet
; 16(18): 2215-25, 2007 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17613536
19.
Searching for cryptic chromosomal aberrations in high hyperdiploid childhood acute lymphoblastic leukaemias.
Eur J Haematol
; 76(5): 449-50, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16494620