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1 . Academic Journal
P626: Clinical utility of structural variant calling using breakpoint analysis method for targeted NGS gene panels
저자
by
Lotta Koskinen
;
Margarita Andreevskaya
;
Mikko Muona
;
Tuuli Pietila
;
Janica Djupsjöbacka
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101532- (2024)
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7 . Academic Journal
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
저자
by
Zelia Corradi
;
Mubeen Khan
;
Rebekkah Hitti-Malin
;
Ketan Mishra
;
Laura Whelan
, et al.
소스
HGG Advances, Vol 4, Iss 4, Pp 100237- (2023)
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7 . Academic Journal
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
저자
by
Rebekkah J. Hitti-Malin
;
Daan M. Panneman
;
Zelia Corradi
;
Erica G. M. Boonen
;
Galuh Astuti
, et al.
소스
Biomolecules, Vol 14, Iss 3, p 367 (2024)
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Scopus
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7 . Academic Journal
Characterization of MED12, HMGA2, and FH alterations reveals molecular variability in uterine smooth muscle tumors
저자
by
Netta Mäkinen
;
Kati Kämpjärvi
;
Norma Frizzell
;
Ralf Bützow
;
Pia Vahteristo
.
소스
Molecular Cancer, Vol 16, Iss 1, Pp 1-8 (2017)
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7 . Academic Journal
Uterine Leiomyoma-Linked MED12 Mutations Disrupt Mediator-Associated CDK Activity
저자
by
Mikko Turunen
;
Jason M. Spaeth
;
Salla Keskitalo
;
Min Ju Park
;
Teemu Kivioja
, et al.
소스
Cell Reports, Vol 7, Iss 3, Pp 654-660 (2014)
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7 .
Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene
저자
by
Samar Yahya
;
Claire E.L. Smith
;
James A. Poulter
;
Martin McKibbin
;
Gavin Arno
, et al.
소스
Ophthalmology, 130, 68-76
Ophthalmology, 130, 1, pp. 68-76
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7 .
Comparison of 2SC, AKR1B10, and FH Antibodies as Potential Biomarkers for FH-deficient Uterine Leiomyomas
저자
by
Anne Ahtikoski
;
Outi Uimari
;
Jaana Kaukomaa
;
Oskari Heikinheimo
;
Lauri A. Aaltonen
, et al.
소스
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7 .
Uterine leiomyomas in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome can be identified through distinct clinical characteristics and typical morphology
저자
by
Pia Vahteristo
;
Markku Ryynanen
;
Kati Kämpjärvi
;
Outi Kuismin
;
Ralf Bützow
, et al.
소스
Acta obstetricia et gynecologica ScandinavicaREFERENCES
. 100(11)
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7 .
Somatic MED12 Nonsense Mutation Escapes mRNA Decay and Reveals a Motif Required for Nuclear Entry
저자
by
Markku Varjosalo
;
Xiaonan Liu
;
Pia Vahteristo
;
Salla Keskitalo
;
Satu Mustjoki
, et al.
소스
Human Mutation
. 38:269-274
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7 .
MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas
저자
by
Nanna Sarvilinna
;
Lauri A. Aaltonen
;
Jaana Tolvanen
;
Hanna-Riikka Heinonen
;
Norma Frizzell
, et al.
소스
British Journal of Cancer
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