Publications:

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Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

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

Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A

Publication Date: 2020-11

Variant appearance in text: FH: 587A>G; His196Arg; rs763601207

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 4
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 7
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

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Characterization of MED12, HMGA2, and FH alterations reveals molecular variability in uterine smooth muscle tumors.

Molecular Cancer

Mäkinen, Netta N; Kämpjärvi, Kati K; Frizzell, Norma N; Bützow, Ralf R; Vahteristo, Pia P

Publication Date: 2017-06-07

Variant appearance in text: FH: 587A>G; H196R

PubMed Link: 28592321

Variant Present in the following documents:

• Main text
• 12943_2017_Article_672.pdf

View BVdb publication page

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MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.

British Journal Of Cancer

Kämpjärvi, Kati K; Mäkinen, Netta N; Mehine, Miika M; Välipakka, Salla S; Uimari, Outi O; Pitkänen, Esa E; Heinonen, Hanna-Riikka HR; Heikkinen, Tuomas T; Tolvanen, Jaana J; Ahtikoski, Anne A; Frizzell, Norma N; Sarvilinna, Nanna N; Sjöberg, Jari J; Bützow, Ralf R; Aaltonen, Lauri A LA; Vahteristo, Pia P

Publication Date: 2016-06-14

Variant appearance in text: FH: 587A>G; H196R

PubMed Link: 27187686

Variant Present in the following documents:

• Main text
• bjc2016130a.pdf
• bjc2016130x2.pdf

View BVdb publication page

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MED12 exon 2 mutations in histopathological uterine leiomyoma variants.

European Journal Of Human Genetics : Ejhg

Mäkinen, Netta N; Vahteristo, Pia P; Kämpjärvi, Kati K; Arola, Johanna J; Bützow, Ralf R; Aaltonen, Lauri A LA

Publication Date: 2013-11

Variant appearance in text: FH: 587A>G; H196R

PubMed Link: 23443020

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structural basis of fumarate hydratase deficiency.

Journal Of Inherited Metabolic Disease

Picaud, Sarah S; Kavanagh, Kathryn L KL; Yue, Wyatt W WW; Lee, Wen Hwa WH; Muller-Knapp, Susanne S; Gileadi, Opher O; Sacchettini, James J; Oppermann, Udo U

Publication Date: 2011-06

Variant appearance in text: FH: 587A>G; H196R

PubMed Link: 21445611

Variant Present in the following documents:

• Main text
• 10545_2011_Article_9294.pdf

View BVdb publication page

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The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.

Bmc Medical Genetics

Bayley, Jean-Pierre JP; Launonen, Virpi V; Tomlinson, Ian P M IP

Publication Date: 2008-03-25

Variant appearance in text: FH: His196Arg

PubMed Link: 18366737

Variant Present in the following documents:

• 1471-2350-9-20.pdf

View BVdb publication page

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