Publications:

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Once upon a Testis: The Tale of Cyclic Nucleotide Phosphodiesterase in Testicular Cancers.

International Journal Of Molecular Sciences

Campolo, Federica F; Assenza, Maria Rita MR; Venneri, Mary Anna MA; Barbagallo, Federica F

Publication Date: 2023-04-20

Variant appearance in text: PDE11A: R52T

PubMed Link: 37108780

Variant Present in the following documents:

• Main text
• ijms-24-07617.pdf

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High expression of adrenal P450 aromatase (CYP19A1) in association with ARMC5-primary bilateral macronodular adrenocortical hyperplasia.

The Journal Of Steroid Biochemistry And Molecular Biology

Berthon, Annabel A; Hannah-Shmouni, Fady F; Maria, Andrea Gutierrez AG; Faucz, Fabio R FR; Stratakis, Constantine A CA

Publication Date: 2019-07

Variant appearance in text: PDE11A: 155G>C; R52T; rs77972073

PubMed Link: 31014964

Variant Present in the following documents:

• Main text

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Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Human Genomics

Fichna, Jakub Piotr JP; Macias, Anna A; Piechota, Marcin M; Korostyński, Michał M; Potulska-Chromik, Anna A; Redowicz, Maria Jolanta MJ; Zekanowski, Cezary C

Publication Date: 2018-07-03

Variant appearance in text: PDE11A: 155G>C; Arg52Thr; rs77972073

PubMed Link: 29970176

Variant Present in the following documents:

• 40246_2018_167_MOESM2_ESM.xlsx, sheet 2

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Successful Treatment of Estrogen Excess in Primary Bilateral Macronodular Adrenocortical Hyperplasia with Leuprolide Acetate.

Hormone And Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme

Hannah-Shmouni, Fady F; Moraitis, Andreas G AG; Romero, Vladimir Valera VV; Faucz, Fabio R FR; Mastroyannis, Spyridon A SA; Berthon, Annabel A; Failor, Richard A RA; Merino, Maria M; Demidowich, Andrew P AP; Stratakis, Constantine A CA

Publication Date: 2018-02

Variant appearance in text: PDE11A: 155G>C; Arg52Thr; rs77972073

PubMed Link: 29183089

Variant Present in the following documents:

• Main text

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: PDE11A: R52T; rs77972073

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 8

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Rare inactivating PDE11A variants associated with testicular germ cell tumors.

Endocrine-Related Cancer

Pathak, Anand A; Stewart, Douglas R DR; Faucz, Fabio R FR; Xekouki, Paraskevi P; Bass, Sara S; Vogt, Aurelie A; Zhang, Xijun X; Boland, Joseph J; Yeager, Meredith M; Loud, Jennifer T JT; Nathanson, Katherine L KL; McGlynn, Katherine A KA; Stratakis, Constantine A CA; Greene, Mark H MH; Mirabello, Lisa L

Publication Date: 2015-12

Variant appearance in text: PDE11A: 155G>C; R52T

PubMed Link: 26459559

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.

Orphanet Journal Of Rare Diseases

Barclay, Sarah F SF; Rand, Casey M CM; Borch, Lauren A LA; Nguyen, Lisa L; Gray, Paul A PA; Gibson, William T WT; Wilson, Richard J A RJ; Gordon, Paul M K PM; Aung, Zaw Z; Berry-Kravis, Elizabeth M EM; Ize-Ludlow, Diego D; Weese-Mayer, Debra E DE; Bech-Hansen, N Torben NT

Publication Date: 2015-08-25

Variant appearance in text: PDE11A: 155G>C; R52T

PubMed Link: 26302956

Variant Present in the following documents:

• Main text
• 13023_2015_314_MOESM1_ESM.xlsx, sheet 2
• 13023_2015_Article_314.pdf
• 13023_2015_314_MOESM1_ESM.xlsx, sheet 3

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: PDE11A: R52T; rs77972073

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: PDE11A: R52T; rs77972073

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

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Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition.

The Journal Of Clinical Endocrinology And Metabolism

Azevedo, Monalisa F MF; Horvath, Anelia A; Bornstein, Ethan R ER; Almeida, Madson Q MQ; Xekouki, Paraskevi P; Faucz, Fabio R FR; Gourgari, Evgenia E; Nadella, Kiran K; Remmers, Elaine F EF; Quezado, Martha M; de Alexandre, Rodrigo Bertollo RB; Kratz, Christian P CP; Nesterova, Maria M; Greene, Mark H MH; Stratakis, Constantine A CA

Publication Date: 2013-08

Variant appearance in text: PDE11A: R52T

PubMed Link: 23771924

Variant Present in the following documents:

• Main text

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Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors.

The Journal Of Clinical Endocrinology And Metabolism

Vezzosi, Delphine D; Libé, Rossella R; Baudry, Camille C; Rizk-Rabin, Marthe M; Horvath, Anelia A; Levy, Isaac I; René-Corail, Fernande F; Ragazzon, Bruno B; Stratakis, Constantine A CA; Vandecasteele, Grégoire G; Bertherat, Jérôme J

Publication Date: 2012-11

Variant appearance in text: PDE11A: R52T

PubMed Link: 22996146

Variant Present in the following documents:

• Main text

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Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors.

Cancer Research

Horvath, Anelia A; Korde, Larissa L; Greene, Mark H MH; Libe, Rossella R; Osorio, Paulo P; Faucz, Fabio Rueda FR; Raffin-Sanson, Marie Laure ML; Tsang, Kit Man KM; Drori-Herishanu, Limor L; Patronas, Yianna Y; Remmers, Elaine F EF; Nikita, Maria Eleni ME; Moran, Jason J; Greene, Joseph J; Nesterova, Maria M; Merino, Maria M; Bertherat, Jerome J; Stratakis, Constantine A CA

Publication Date: 2009-07-01

Variant appearance in text: PDE11A: 155G>C; R52T

PubMed Link: 19549888

Variant Present in the following documents:

• Main text

View BVdb publication page

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