Detalhe da pesquisa
1.
Impact of additional genetic abnormalities at diagnosis of chronic myeloid leukemia for first-line imatinib-treated patients receiving proactive treatment intervention.
Haematologica
; 108(9): 2380-2395, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36951160
2.
Survey of germline variants in cancer-associated genes in young adults with colorectal cancer.
Genes Chromosomes Cancer
; 61(2): 105-113, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34761457
3.
RNF43 pathogenic Germline variant in a family with colorectal cancer.
Clin Genet
; 101(1): 122-126, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34541672
4.
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.
J Med Genet
; 57(7): 454-460, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31988067
5.
Multi-layer structure of Inconel 625 coatings prepared by magnetron sputtering.
Surf Coat Technol
; 4052021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37719657
6.
Designed Core-Shell Fe3O4@Polydopamine for Effectively Removing Uranium(VI) from Aqueous Solution.
Bull Environ Contam Toxicol
; 106(1): 165-174, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32468076
7.
Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss.
BMC Med Genet
; 21(1): 35, 2020 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32066420
8.
Integrative genomic analysis reveals cancer-associated mutations at diagnosis of CML in patients with high-risk disease.
Blood
; 132(9): 948-961, 2018 08 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-29967129
9.
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.
Am J Med Genet A
; 182(5): 1273-1277, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32141698
10.
A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing's disease.
BMC Endocr Disord
; 20(1): 18, 2020 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31996203
11.
Childhood acute myeloid leukemia shows a high level of germline predisposition.
Blood
; 138(22): 2293-2298, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34521114
12.
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.
Blood
; 127(8): 1017-23, 2016 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26712909
13.
Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.
Hum Mutat
; 37(9): 955-63, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27323706
14.
The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.
Haematologica
; 106(11): 3004-3007, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34233450
15.
Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss.
Am J Med Genet A
; 167A(8): 1872-6, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25850411
16.
A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia.
Haematologica
; 104(7): e318-e321, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30923096
17.
A case of Aromatase deficiency due to a novel CYP19A1 mutation.
BMC Endocr Disord
; 14: 16, 2014 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-24552606
18.
Increased prevalence of germline pathogenic CHEK2 variants in individuals with pituitary adenomas.
J Clin Endocrinol Metab
; 2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38651569
19.
Genomic instability drives tumorigenesis and metastasis and its implications for cancer therapy.
Biomed Pharmacother
; 157: 114036, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36436493
20.
Machine learning models-based on integration of next-generation sequencing testing and tumor cell sizes improve subtype classification of mature B-cell neoplasms.
Front Oncol
; 13: 1160383, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37601650