Publications:

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Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five-generation family.

Molecular Genetics & Genomic Medicine

Wei, Xianda X; Huang, Guori G; Gui, Baoheng B; Xie, Bobo B; Chen, Shaoke S; Fan, Xin X; Chen, Yujun Y

Publication Date: 2022-04

Variant appearance in text: SDHB: 274T>A; S92T

PubMed Link: 35235708

Variant Present in the following documents:

• MGG3-10-e1901-s001.xlsx, sheet 1

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The emerging role and targetability of the TCA cycle in cancer metabolism.

Protein & Cell

Anderson, Nicole M NM; Mucka, Patrick P; Kern, Joseph G JG; Feng, Hui H

Publication Date: 2018-02

Variant appearance in text: SDHB: 274T>A

PubMed Link: 28748451

Variant Present in the following documents:

• Main text
• 13238_2017_Article_451.pdf

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Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - a review.

The International Journal Of Biochemistry & Cell Biology

Miettinen, Markku M; Lasota, Jerzy J

Publication Date: 2014-08

Variant appearance in text: SDHB: 274T>A; S92T

PubMed Link: 24886695

Variant Present in the following documents:

• Main text

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Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.

The American Journal Of Surgical Pathology

Miettinen, Markku M; Killian, Jonathan Keith JK; Wang, Zeng-Feng ZF; Lasota, Jerzy J; Lau, Christopher C; Jones, Laura L; Walker, Robert R; Pineda, Marbin M; Zhu, Yuelin Jack YJ; Kim, Su Y SY; Helman, Lee L; Meltzer, Paul P

Publication Date: 2013-02

Variant appearance in text: SDHB: S92T

PubMed Link: 23282968

Variant Present in the following documents:

• Main text

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Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Janeway, Katherine A KA; Kim, Su Young SY; Lodish, Maya M; Nosé, Vânia V; Rustin, Pierre P; Gaal, José J; Dahia, Patricia L M PL; Liegl, Bernadette B; Ball, Evan R ER; Raygada, Margarita M; Lai, Angela H AH; Kelly, Lorna L; Hornick, Jason L JL; , ; O'Sullivan, Maureen M; de Krijger, Ronald R RR; Dinjens, Winand N M WN; Demetri, George D GD; Antonescu, Cristina R CR; Fletcher, Jonathan A JA; Helman, Lee L; Stratakis, Constantine A CA

Publication Date: 2011-01-04

Variant appearance in text: SDHB: S92T

PubMed Link: 21173220

Variant Present in the following documents:

• Main text

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SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Gaal, José J; Stratakis, Constantine A CA; Carney, J Aidan JA; Ball, Evan R ER; Korpershoek, Esther E; Lodish, Maya B MB; Levy, Isaac I; Xekouki, Paraskevi P; van Nederveen, Francien H FH; den Bakker, Michael A MA; O'Sullivan, Maureen M; Dinjens, Winand N M WN; de Krijger, Ronald R RR

Publication Date: 2011-01

Variant appearance in text: SDHB: Ser92Thr

PubMed Link: 20890271

Variant Present in the following documents:

• Main text

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