Detalhe da pesquisa
1.
Improved Staging of Ciliary Body and Choroidal Melanomas Based on Estimation of Tumor Volume and Competing Risk Analyses.
Ophthalmology
; 131(4): 478-491, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38071620
2.
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
Am J Med Genet A
; 194(1): 64-69, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37705207
3.
Familial Beckwith-Wiedemann syndrome in a multigenerational family: Forty years of careful phenotyping.
Am J Med Genet A
; 191(2): 348-356, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322462
4.
The role of CTCF in the organization of the centromeric 11p15 imprinted domain interactome.
Nucleic Acids Res
; 49(11): 6315-6330, 2021 06 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34107024
5.
Adding the Cancer Genome Atlas Chromosome Classes to American Joint Committee on Cancer System Offers More Precise Prognostication in Uveal Melanoma.
Ophthalmology
; 129(4): 431-437, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34793831
6.
Chromosome 3 and 8q Aberrations in Uveal Melanoma Show Greater Impact on Survival in Patients with Light Iris versus Dark Iris Color.
Ophthalmology
; 129(4): 421-430, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34780841
7.
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome.
J Med Genet
; 58(3): 178-184, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32430359
8.
Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(10): 1807-1817, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34140662
9.
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.
Genet Med
; 23(4): 637-644, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33244166
10.
Prenatal molecular testing and diagnosis of Beckwith-Wiedemann syndrome.
Prenat Diagn
; 41(7): 817-822, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33974722
11.
11p15.5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood.
Cancer
; 126(13): 3114-3121, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32320050
12.
Medical radiation exposure and risk of sporadic retinoblastoma.
Pediatr Blood Cancer
; 67(11): e28633, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32743912
13.
Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
Am J Med Genet C Semin Med Genet
; 181(4): 682-692, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31414570
14.
Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management.
Am J Med Genet C Semin Med Genet
; 181(4): 693-708, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31469230
15.
Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.
Genet Med
; 21(11): 2644-2649, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31147633
16.
Genetic Analysis of Uveal Melanoma in 658 Patients Using the Cancer Genome Atlas Classification of Uveal Melanoma as A, B, C, and D.
Ophthalmology
; 126(10): 1445-1453, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31026493
17.
Novel dominant KATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping.
Am J Med Genet A
; 179(11): 2214-2227, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31464105
18.
Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome.
Am J Med Genet A
; 179(7): 1139-1147, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31067005
19.
Diagnosis of Beckwith-Wiedemann syndrome in children presenting with Wilms tumor.
Pediatr Blood Cancer
; 65(10): e27296, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29932284
20.
Parental occupational exposures and the risk of childhood sporadic retinoblastoma: a report from the Children's Oncology Group.
Occup Environ Med
; 75(3): 205-211, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29074554