-
1
-
-
39049101528
-
Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia
-
Horvath, A., Mericq, V., &, Stratakis, C.A., (2008) Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia. New England Journal of Medicine, 358, 750-752.
-
(2008)
New England Journal of Medicine
, vol.358
, pp. 750-752
-
-
Horvath, A.1
Mericq, V.2
Stratakis, C.A.3
-
2
-
-
53249142160
-
A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: A novel PDE8B isoform in human adrenal cortex
-
Horvath, A., Giatzakis, C., Tsang, K., et al,. (2008) A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex. European Journal of Human Genetics 16, 1245-1253.
-
(2008)
European Journal of Human Genetics
, vol.16
, pp. 1245-1253
-
-
Horvath, A.1
Giatzakis, C.2
Tsang, K.3
-
3
-
-
79953012232
-
The high affinity cAMP-specific phosphodiesterase 8B (PDE8B) controls steroidogenesis in the mouse adrenal gland
-
Tsai, L.C., Shimizu-Albergine, M., &, Beavo, J.A., (2010) The high affinity cAMP-specific phosphodiesterase 8B (PDE8B) controls steroidogenesis in the mouse adrenal gland. Molecular Pharmacology, 79, 639-648.
-
(2010)
Molecular Pharmacology
, vol.79
, pp. 639-648
-
-
Tsai, L.C.1
Shimizu-Albergine, M.2
Beavo, J.A.3
-
4
-
-
33745548423
-
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia
-
Horvath, A., Boikos, S., Giatzakis, C., et al,. (2006) A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nature Genetics 38, 794-800.
-
(2006)
Nature Genetics
, vol.38
, pp. 794-800
-
-
Horvath, A.1
Boikos, S.2
Giatzakis, C.3
-
5
-
-
33846242137
-
Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population
-
Horvath, A., Giatzakis, C., Robinson-White, A., et al,. (2006) Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population. Cancer Research 66, 11571-11575.
-
(2006)
Cancer Research
, vol.66
, pp. 11571-11575
-
-
Horvath, A.1
Giatzakis, C.2
Robinson-White, A.3
-
6
-
-
67650505040
-
Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors
-
Horvath, A., Korde, L., Greene, M.H., et al,. (2009) Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors. Cancer Research, 69, 5301-5306.
-
(2009)
Cancer Research
, vol.69
, pp. 5301-5306
-
-
Horvath, A.1
Korde, L.2
Greene, M.H.3
-
7
-
-
78650868311
-
Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer
-
Faucz, F.R., Horvath, A., Rothenbuhler, A., et al,. (2011) Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer. Journal of Clinical Endocrinology and Metabolism, 96, 135-140.
-
(2011)
Journal of Clinical Endocrinology and Metabolism
, vol.96
, pp. 135-140
-
-
Faucz, F.R.1
Horvath, A.2
Rothenbuhler, A.3
-
8
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei, I.A., Schmidt, S., Peshkin, L., et al,. (2010) A method and server for predicting damaging missense mutations. Nature Methods 7, 248-249.
-
(2010)
Nature Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
-
9
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar, P., Henikoff, S., &, Ng, P.C., (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nature Protocols 4, 1073-1081.
-
(2009)
Nature Protocols
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
10
-
-
34547559084
-
SplicePort-an interactive splice-site analysis tool
-
Dogan, R.I., Getoor, L., Wilbur, W.J., et al,. (2007) SplicePort-an interactive splice-site analysis tool. Nucleic Acids Research 35, 285-291.
-
(2007)
Nucleic Acids Research
, vol.35
, pp. 285-291
-
-
Dogan, R.I.1
Getoor, L.2
Wilbur, W.J.3
-
11
-
-
52449114622
-
Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors
-
Libe, R., Fratticci, A., Coste, J., et al,. (2008) Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors. Clinical Cancer Research 14, 4016-4024.
-
(2008)
Clinical Cancer Research
, vol.14
, pp. 4016-4024
-
-
Libe, R.1
Fratticci, A.2
Coste, J.3
-
12
-
-
78650898282
-
Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype
-
Libe, R., Horvath, A., Vezzosi, D., et al,. (2011) Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype. Journal of Clinical Endocrinology and Metabolism, 96, 208-214.
-
(2011)
Journal of Clinical Endocrinology and Metabolism
, vol.96
, pp. 208-214
-
-
Libe, R.1
Horvath, A.2
Vezzosi, D.3
-
13
-
-
0027967028
-
Clonal composition of human adrenocortical neoplasms
-
Beuschlein, F., Reincke, M., Karl, M., et al,. (1994) Clonal composition of human adrenocortical neoplasms. Cancer Research, 54, 4927-4932.
-
(1994)
Cancer Research
, vol.54
, pp. 4927-4932
-
-
Beuschlein, F.1
Reincke, M.2
Karl, M.3
-
14
-
-
0028238548
-
Clonal analysis of human adrenocortical carcinomas and secreting adenomas
-
Gicquel, C., Leblond-Francillard, M., Bertagna, X., et al,. (1994) Clonal analysis of human adrenocortical carcinomas and secreting adenomas. Clinical Endocrinology (Oxford), 40, 465-477.
-
(1994)
Clinical Endocrinology (Oxford)
, vol.40
, pp. 465-477
-
-
Gicquel, C.1
Leblond-Francillard, M.2
Bertagna, X.3
-
15
-
-
0033812849
-
Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex
-
Kirschner, L.S., Carney, J.A., Pack, S.D., et al,. (2000) Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nature Genetics, 26, 89-92.
-
(2000)
Nature Genetics
, vol.26
, pp. 89-92
-
-
Kirschner, L.S.1
Carney, J.A.2
Pack, S.D.3
-
16
-
-
0036907704
-
Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: Augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD
-
Groussin, L., Kirschner, L.S., Vincent-Dejean, C., et al,. (2002) Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD. American Journal of Human Genetics, 71, 1433-1442.
-
(2002)
American Journal of Human Genetics
, vol.71
, pp. 1433-1442
-
-
Groussin, L.1
Kirschner, L.S.2
Vincent-Dejean, C.3
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