Publications:

Exome sequencing as first-tier test for fetuses with severe central nervous system structural anomalies.

Ultrasound In Obstetrics & Gynecology : The Official Journal Of The International Society Of Ultrasound In Obstetrics And Gynecology

Yaron, Y Y; Ofen Glassner, V V; Mory, A A; Zunz Henig, N N; Kurolap, A A; Bar Shira, A A; Brabbing Goldstein, D D; Marom, D D; Ben Sira, L L; Baris Feldman, H H; Malinger, G G; Krajden Haratz, K K; Reches, A A

Publication Date: 2022-07

Variant appearance in text: TSC2: 481+1G>A

PubMed Link: 35229910

Variant Present in the following documents:

• Main text
• UOG-60-59.pdf

View BVdb publication page

MITF is a driver oncogene and potential therapeutic target in kidney angiomyolipoma tumors through transcriptional regulation of CYR61.

Oncogene

Zarei, Mahsa M; Giannikou, Krinio K; Du, Heng H; Liu, Heng-Jia HJ; Duarte, Melissa M; Johnson, Sneha S; Nassar, Amin H AH; Widlund, Hans R HR; Henske, Elizabeth P EP; Long, Henry W HW; Kwiatkowski, David J DJ

Publication Date: 2021-01

Variant appearance in text: TSC2: 481+1G>A

PubMed Link: 33082558

Variant Present in the following documents:

• NIHMS1634322-supplement-5.pdf

View BVdb publication page