Detalhe da pesquisa
1.
Cancer-associated POT1 mutations lead to telomere elongation without induction of a DNA damage response.
EMBO J
; 40(12): e107346, 2021 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33934394
2.
Discovery of novel predisposing coding and noncoding variants in familial Hodgkin lymphoma.
Blood
; 141(11): 1293-1307, 2023 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35977101
3.
Natural history of monoclonal B-cell lymphocytosis among relatives in CLL families.
Blood
; 137(15): 2046-2056, 2021 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33512457
4.
Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome.
J Med Genet
; 59(4): 346-350, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33782093
5.
Combined somatic mutation and copy number analysis in the survival of familial CLL.
Br J Haematol
; 181(5): 604-613, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29687880
6.
Germline mutations in Protection of Telomeres 1 in two families with Hodgkin lymphoma.
Br J Haematol
; 181(3): 372-377, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29693246
7.
Whole exome sequencing in families at high risk for Hodgkin lymphoma: identification of a predisposing mutation in the KDR gene.
Haematologica
; 101(7): 853-60, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27365461
8.
Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family.
Haematologica
; 101(7): 846-52, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26721895
9.
Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family.
Hum Genet
; 134(7): 775-87, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25939664
10.
Familial testicular germ cell tumor: no associated syndromic pattern identified.
Hered Cancer Clin Pract
; 12(1): 3, 2014 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-24559313
11.
Whole exome sequencing in families with CLL detects a variant in Integrin ß 2 associated with disease susceptibility.
Blood
; 128(18): 2261-2263, 2016 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27629550
12.
The epidemiology of Waldenström macroglobulinemia.
Semin Hematol
; 60(2): 65-72, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37099032
13.
Gene Expression Profiling Identifies Two Chordoma Subtypes Associated with Distinct Molecular Mechanisms and Clinical Outcomes.
Clin Cancer Res
; 29(1): 261-270, 2023 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36260525
14.
Differential characteristics of Waldenström macroglobulinemia according to patterns of familial aggregation.
Blood
; 115(22): 4464-71, 2010 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-20308603
15.
Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population.
J Med Genet
; 48(7): 444-9, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21266383
16.
Histological Features of Sporadic and Familial Testicular Germ Cell Tumors Compared and Analysis of Age-Related Changes of Histology.
Cancers (Basel)
; 13(7)2021 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33916078
17.
Hematologic indices in individuals with pathogenic germline DICER1 variants.
Blood Adv
; 5(1): 216-223, 2021 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33570641
18.
Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.
JNCI Cancer Spectr
; 5(2)2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34308104
19.
Risk of lymphoproliferative disorders among first-degree relatives of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia patients: a population-based study in Sweden.
Blood
; 112(8): 3052-6, 2008 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18703425
20.
Monozygotic twins discordant for neurofibromatosis 1.
Am J Med Genet A
; 152A(3): 601-6, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20186797