Detalhe da pesquisa
1.
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gastroenterology
; 164(4): 579-592.e8, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586540
2.
A second hereditary cancer predisposition syndrome in a patient with lynch syndrome and three primary cancers.
Hered Cancer Clin Pract
; 22(1): 8, 2024 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38867252
3.
Assessment of Factors Associated With the Evaluation of Children for Leukemia Predisposition Syndromes: A Retrospective Single-center Study.
J Pediatr Hematol Oncol
; 45(5): e597-e602, 2023 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37027191
4.
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.
Hum Mutat
; 43(1): 85-96, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34816535
5.
B-cell acute lymphoblastic leukemia with iAMP21 in a patient with Down syndrome due to a constitutional isodicentric chromosome 21.
Am J Med Genet A
; 188(8): 2325-2330, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35678493
6.
Cutaneous Ewing Sarcoma Presenting as a Second Primary Malignancy in a Child.
J Pediatr Hematol Oncol
; 44(8): 486-488, 2022 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35426856
7.
Evaluation of barriers to referral for cancer predisposition syndromes in pediatric oncology patients in the United States.
J Genet Couns
; 31(4): 901-911, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35147246
8.
A mismatched syndrome: A five-year-old girl with very-high-risk leukemia and Lynch syndrome.
Pediatr Blood Cancer
; 70(11): e30660, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37670469
9.
A germline BARD1 mutation in a patient with Ewing Sarcoma: Implications for familial testing and counseling.
Pediatr Blood Cancer
; 66(9): e27824, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31157509
10.
A Nine-Year-Old Child With Metastatic Pancreatic Adenocarcinoma.
Cureus
; 16(5): e60670, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38899258
11.
Clinical updates and surveillance recommendations for DNA replication-repair deficiency syndromes in children and young adults.
Clin Cancer Res
; 2024 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38860976
12.
A Pathogenic Germline BRCA1 Variant in a Patient With Cellular Congenital Mesoblastic Nephroma: A Case Report.
Cureus
; 15(8): e43857, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37736432
13.
Familial Cerebral Cavernous Malformation Syndrome with Concomitant Fourth Ventricular Ependymoma: True Association or Mere Coincidence?
Cancer Genet
; 244: 36-39, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32434131
14.