Detalhe da pesquisa
1.
Identification of a robust DNA methylation signature for Fanconi anemia.
Am J Hum Genet
; 110(11): 1938-1949, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37865086
2.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
; 108(3): 502-516, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596411
3.
Reversing vemurafenib-resistance in primary melanoma cells by combined romidepsin and type I IFN treatment through blocking of tumorigenic signals and induction of immunogenic effects.
Int J Cancer
; 153(5): 1080-1095, 2023 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37293858
4.
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.
J Clin Immunol
; 43(8): 2192-2207, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37837580
5.
Pediatric BCOR-Altered Tumors From Soft Tissue/Kidney Display Specific DNA Methylation Profiles.
Mod Pathol
; 36(2): 100039, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36853789
6.
Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder.
Haematologica
; 2023 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37981895
7.
Immune dysregulation associated with co-occurring germline CBL and SH2B3 variants.
Hum Genomics
; 16(1): 40, 2022 09 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36123612
8.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Am J Hum Genet
; 105(3): 493-508, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31447100
9.
Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant.
Am J Med Genet A
; 188(9): 2796-2802, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35689525
10.
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Int J Mol Sci
; 23(3)2022 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35163737
11.
Upfront treatment with mTOR inhibitor everolimus in pediatric low-grade gliomas: A single-center experience.
Int J Cancer
; 148(10): 2522-2534, 2021 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33320972
12.
DNA Methylation Profiling for Diagnosing Undifferentiated Sarcoma with Capicua Transcriptional Receptor (CIC) Alterations.
Int J Mol Sci
; 21(5)2020 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32155762
13.
Recurrent genetic fusions redefine MLL germ line acute lymphoblastic leukemia in infants.
Blood
; 137(14): 1980-1984, 2021 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33512459
14.
αßT- and B-cell-depleted HLA-haploidentical hematopoietic stem cell transplantation in children with myelodysplastic syndromes.
Haematologica
; 107(12): 2966-2971, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36005558
15.
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Brain
; 139(Pt 1): 73-85, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26556829
16.
GATA2-related myeloid neoplasms in pediatrics: where do we stand?
Pediatr Hematol Oncol
; 39(4): 365-369, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34668827
17.
Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation.
Am J Med Genet A
; 164A(11): 2938-46, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25160005
18.
CNS tumor with CREBBP::BCORL1 Fusion and pathogenic mutations in BCOR and CREBBP: expanding the spectrum of BCOR-altered tumors.
Acta Neuropathol Commun
; 12(1): 8, 2024 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38216991
19.
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.
Eur J Hum Genet
; 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38528056
20.
Evaluating cell culture reliability in pediatric brain tumor primary cells through DNA methylation profiling.
NPJ Precis Oncol
; 8(1): 92, 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38637626