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1.
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome.
J Med Genet
; 58(3): 178-184, 2021 03.
Article
in English
| MEDLINE | ID: mdl-32430359
2.
Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome.
Am J Med Genet A
; 179(7): 1139-1147, 2019 07.
Article
in English
| MEDLINE | ID: mdl-31067005
3.
Subcutaneous melanocytoma mimicking a lipoma: a rare presentation of a rare neoplasm with histological, immunohistochemical, cytogenetic and molecular characterization.
J Cutan Pathol
; 43(12): 1186-1196, 2016 Dec.
Article
in English
| MEDLINE | ID: mdl-27573466
4.
Enhanced sensitivity for detection of low-level germline mosaic RB1 mutations in sporadic retinoblastoma cases using deep semiconductor sequencing.
Hum Mutat
; 35(3): 384-91, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24282159
5.
Improved Uveal Melanoma Copy Number Subtypes Including an Ultra-High-Risk Group.
Ophthalmol Sci
; 2(2): 100121, 2022 Jun.
Article
in English
| MEDLINE | ID: mdl-36249692
6.
Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.
Hum Genet
; 128(1): 61-77, 2010 Jul.
Article
in English
| MEDLINE | ID: mdl-20414677
7.
Molecular diagnosis of somatic overgrowth conditions: A single-center experience.
Mol Genet Genomic Med
; 7(3): e536, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30761771
8.
Phosphorylation of pRb: mechanism for RB pathway inactivation in MYCN-amplified retinoblastoma.
Cancer Med
; 6(3): 619-630, 2017 03.
Article
in English
| MEDLINE | ID: mdl-28211617
9.
Molecular karyotyping for detection of prognostic markers in fine needle aspiration biopsy samples of uveal melanoma.
Methods Mol Biol
; 1102: 441-58, 2014.
Article
in English
| MEDLINE | ID: mdl-24258992
10.
Chromosome 3 status combined with BAP1 and EIF1AX mutation profiles are associated with metastasis in uveal melanoma.
Invest Ophthalmol Vis Sci
; 55(8): 5160-7, 2014 Jun 26.
Article
in English
| MEDLINE | ID: mdl-24970262
11.
RB1 gene inactivation by chromothripsis in human retinoblastoma.
Oncotarget
; 5(2): 438-50, 2014 Jan 30.
Article
in English
| MEDLINE | ID: mdl-24509483
12.
Genomic profile of 320 uveal melanoma cases: chromosome 8p-loss and metastatic outcome.
Invest Ophthalmol Vis Sci
; 54(8): 5721-9, 2013 Aug 23.
Article
in English
| MEDLINE | ID: mdl-23821189
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