Detalhe da pesquisa
1.
A molecular basis for neurofibroma-associated skeletal manifestations in NF1.
Genet Med
; 22(11): 1786-1793, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32601387
2.
First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation.
BMC Cancer
; 17(1): 127, 2017 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-28193203
3.
Genetic modifiers of neurofibromatosis type 1-associated café-au-lait macule count identified using multi-platform analysis.
PLoS Genet
; 10(10): e1004575, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25329635
4.
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
5.
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
6.
Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors.
Genes Chromosomes Cancer
; 51(5): 429-37, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22250039
7.
Identification of Genetic Risk Factors for Familial Urinary Bladder Cancer: An Exome Sequencing Study.
JCO Precis Oncol
; 52021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34964002
8.
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
9.
Evidence of perturbations of cell cycle and DNA repair pathways as a consequence of human and murine NF1-haploinsufficiency.
BMC Genomics
; 11: 194, 2010 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-20307317
10.
Genetics of human malignant peripheral nerve sheath tumors.
Neurooncol Adv
; 2(Suppl 1): i50-i61, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32642732
11.
Genome-wide association study of café-au-lait macule number in neurofibromatosis type 1.
Mol Genet Genomic Med
; 8(10): e1400, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32869517
12.
Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas.
Sci Rep
; 10(1): 12563, 2020 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32724039
13.
Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1-associated atypical neurofibromas.
Neuro Oncol
; 21(8): 981-992, 2019 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30722027
14.
Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.
Genome Med
; 10(1): 99, 2018 12 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-30583724
15.
In search of genetic factors predisposing to familial hairy cell leukemia (HCL): exome-sequencing of four multiplex HCL pedigrees.
Leukemia
; 34(7): 1934-1938, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31992839
16.
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.
PLoS One
; 9(6): e98686, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24892279
17.
A quantitative assessment of the burden and distribution of Lisch nodules in adults with neurofibromatosis type 1.
Invest Ophthalmol Vis Sci
; 50(11): 5035-43, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19516012
18.
Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association.
Cancer Res
; 69(18): 7393-401, 2009 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19738042
19.
A potential role for mini-chromosome maintenance (MCM) proteins in initiation at the dihydrofolate reductase replication origin.
J Biol Chem
; 277(4): 2702-8, 2002 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-11723123