Detalhe da pesquisa
1.
Developmental and behavioral phenotypes of pediatric patients with PTEN hamartoma tumor syndrome.
Am J Med Genet A
; : e63608, 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38546160
2.
A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome.
Genome Res
; 30(8): 1170-1180, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32817165
3.
Upper Gastrointestinal Cancer Risk and Surveillance Outcomes in Li-Fraumeni Syndrome.
Am J Gastroenterol
; 115(12): 2095-2097, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32969947
4.
Frequency of radiation-induced malignancies post-adjuvant radiotherapy for breast cancer in patients with Li-Fraumeni syndrome.
Breast Cancer Res Treat
; 181(1): 181-188, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32246378
5.
Gastrointestinal Polyposis in Pediatric Patients.
J Pediatr Gastroenterol Nutr
; 69(3): 273-280, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31211762
6.
Parent-child communication surrounding genetic testing for Li-Fraumeni syndrome: Living under the cloud of cancer.
Pediatr Blood Cancer
; 65(11): e27350, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30009566
7.
Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives.
J Genet Couns
; 27(4): 844-853, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29204812
8.
The Influence of Adolescence on Parents' Perspectives of Testing and Discussing Inherited Cancer Predisposition.
J Genet Couns
; 2018 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29909594
9.
Looking closely at overgrowth: Constitutional mosaicism in PTEN hamartoma tumor syndrome.
Clin Genet
; 102(6): 557-559, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35923098
10.
Management of adrenal masses in patients with Beckwith-Wiedemann syndrome.
Pediatr Blood Cancer
; 64(8)2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28066990
11.
Neuroblastoma and cutaneous angiosarcoma in a child with PTEN hamartoma tumor syndrome.
Pediatr Blood Cancer
; 69(10): e29656, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35278038
12.
Should Genetic Testing be Offered for Children? The Perspectives of Adolescents and Emerging Adults in Families with Li-Fraumeni Syndrome.
J Genet Couns
; 26(5): 1106-1115, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28303452
13.
Parent decision-making around the genetic testing of children for germline TP53 mutations.
Cancer
; 121(2): 286-93, 2015 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25223899
14.
Earlier Colorectal Cancer Screening May Be Necessary In Patients With Li-Fraumeni Syndrome.
Gastroenterology
; 156(1): 273-274, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30243621
15.
Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies.
Am J Med Genet A
; 167A(4): 862-5, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25706929
16.
Diagnostic Performance of Whole-Body MRI as a Tool for Cancer Screening in Children With Genetic Cancer-Predisposing Conditions.
AJR Am J Roentgenol
; 205(2): 400-8, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26204294
17.
Adult-Onset Cancer Predisposition Syndromes in Children and Adolescents-To Test or not to Test?
Clin Cancer Res
; 30(9): 1733-1738, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38411636
18.
Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence.
J Natl Cancer Inst
; 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38702830
19.
Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.
J Mol Diagn
; 26(3): 191-201, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38103590
20.
Treatment of Epstein Barr virus-induced haemophagocytic lymphohistiocytosis with rituximab-containing chemo-immunotherapeutic regimens.
Br J Haematol
; 162(3): 376-82, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23692048