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Results: 1 to 20 of 117

1.

Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation.

Storr HL, Metherell LA, Dias R, Savage MO, Rasmussen AK, Clark AJ, Main KM.

Horm Res Paediatr. 2010;73(2):115-9. doi: 10.1159/000277629. Epub 2010 Feb 9.

PMID:
20190548
[PubMed - indexed for MEDLINE]
2.

A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds.

Groussin L, Horvath A, Jullian E, Boikos S, Rene-Corail F, Lefebvre H, Cephise-Velayoudom FL, Vantyghem MC, Chanson P, Conte-Devolx B, Lucas M, Gentil A, Malchoff CD, Tissier F, Carney JA, Bertagna X, Stratakis CA, Bertherat J.

J Clin Endocrinol Metab. 2006 May;91(5):1943-9. Epub 2006 Feb 7.

PMID:
16464939
[PubMed - indexed for MEDLINE]
3.

PRKAR1A mutations in primary pigmented nodular adrenocortical disease.

Cazabat L, Ragazzon B, Groussin L, Bertherat J.

Pituitary. 2006;9(3):211-9. Review.

PMID:
17036196
[PubMed - indexed for MEDLINE]
4.

A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer.

Anselmo J, Medeiros S, Carneiro V, Greene E, Levy I, Nesterova M, Lyssikatos C, Horvath A, Carney JA, Stratakis CA.

J Clin Endocrinol Metab. 2012 Feb;97(2):351-9. doi: 10.1210/jc.2011-2244. Epub 2011 Nov 23.

PMID:
22112814
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease.

Groussin L, Jullian E, Perlemoine K, Louvel A, Leheup B, Luton JP, Bertagna X, Bertherat J.

J Clin Endocrinol Metab. 2002 Sep;87(9):4324-9.

PMID:
12213893
[PubMed - indexed for MEDLINE]
6.

Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families.

Pereira AM, Hes FJ, Horvath A, Woortman S, Greene E, Bimpaki E, Alatsatianos A, Boikos S, Smit JW, Romijn JA, Nesterova M, Stratakis CA.

J Clin Endocrinol Metab. 2010 Jan;95(1):338-42. doi: 10.1210/jc.2009-0993. Epub 2009 Nov 13.

PMID:
19915019
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Children with Cushing's syndrome: Primary Pigmented Nodular Adrenocortical Disease should always be suspected.

da Silva RM, Pinto E, Goldman SM, Andreoni C, Vieira TC, Abucham J.

Pituitary. 2011 Mar;14(1):61-7. doi: 10.1007/s11102-010-0260-5.

PMID:
20924687
[PubMed - indexed for MEDLINE]
8.

Adrenal pathophysiology: lessons from the Carney complex.

Groussin L, Cazabat L, René-Corail F, Jullian E, Bertherat J.

Horm Res. 2005;64(3):132-9. Epub 2005 Sep 27. Review.

PMID:
16192737
[PubMed - indexed for MEDLINE]
Free Article
9.

Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.

Bertherat J, Horvath A, Groussin L, Grabar S, Boikos S, Cazabat L, Libe R, René-Corail F, Stergiopoulos S, Bourdeau I, Bei T, Clauser E, Calender A, Kirschner LS, Bertagna X, Carney JA, Stratakis CA.

J Clin Endocrinol Metab. 2009 Jun;94(6):2085-91. doi: 10.1210/jc.2008-2333. Epub 2009 Mar 17.

PMID:
19293268
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD).

Tadjine M, Lampron A, Ouadi L, Horvath A, Stratakis CA, Bourdeau I.

Clin Endocrinol (Oxf). 2008 Sep;69(3):367-73. doi: 10.1111/j.1365-2265.2008.03273.x. Epub 2008 Apr 14.

PMID:
18419788
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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.

Libé R, Horvath A, Vezzosi D, Fratticci A, Coste J, Perlemoine K, Ragazzon B, Guillaud-Bataille M, Groussin L, Clauser E, Raffin-Sanson ML, Siegel J, Moran J, Drori-Herishanu L, Faucz FR, Lodish M, Nesterova M, Bertagna X, Bertherat J, Stratakis CA.

J Clin Endocrinol Metab. 2011 Jan;96(1):E208-14. doi: 10.1210/jc.2010-1704. Epub 2010 Nov 3.

PMID:
21047926
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

A novel PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease and the Carney complex.

Peck MC, Visser BC, Norton JA, Pasche L, Katznelson L.

Endocr Pract. 2010 Mar-Apr;16(2):198-204. doi: 10.4158/EP09245.OR.

PMID:
19833579
[PubMed - indexed for MEDLINE]
13.

A novel PRKAR1A mutation associated with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations.

Gennari M, Stratakis CA, Hovarth A, Pirazzoli P, Cicognani A.

Clin Endocrinol (Oxf). 2008 Nov;69(5):751-5. doi: 10.1111/j.1365-2265.2008.03286.x. Epub 2008 Apr 28.

PMID:
18445140
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Systematic screening for PRKAR1A gene rearrangement in Carney complex: identification and functional characterization of a new in-frame deletion.

Guillaud Bataille M, Rhayem Y, Sousa SB, Libé R, Dambrun M, Chevalier C, Nigou M, Auzan C, North MO, Sa J, Gomes L, Salpea P, Horvath A, Stratakis CA, Hamzaoui N, Bertherat J, Clauser E.

Eur J Endocrinol. 2013 Nov 29;170(1):151-60. doi: 10.1530/EJE-13-0740. Print 2014 Jan.

PMID:
24144965
[PubMed - indexed for MEDLINE]
15.

[Carney complex].

Losada Grande EJ, Al Kassam Martínez D, González Boillos M.

Endocrinol Nutr. 2011 Jun-Jul;58(6):308-14. doi: 10.1016/j.endonu.2011.03.001. Epub 2011 May 4. Review. Spanish.

PMID:
21536508
[PubMed - indexed for MEDLINE]
16.

Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity.

Bertherat J, Groussin L, Sandrini F, Matyakhina L, Bei T, Stergiopoulos S, Papageorgiou T, Bourdeau I, Kirschner LS, Vincent-Dejean C, Perlemoine K, Gicquel C, Bertagna X, Stratakis CA.

Cancer Res. 2003 Sep 1;63(17):5308-19.

PMID:
14500362
[PubMed - indexed for MEDLINE]
Free Article
17.

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 LS, Vincent-Dejean C, Perlemoine K, Jullian E, Delemer B, Zacharieva S, Pignatelli D, Carney JA, Luton JP, Bertagna X, Stratakis CA, Bertherat J.

Am J Hum Genet. 2002 Dec;71(6):1433-42. Epub 2002 Nov 6.

PMID:
12424709
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Case report of familial Carney complex due to novel frameshift mutation c.597del C (p.Phe200LeufsX6) in PRKAR1A.

Sasaki A, Horikawa Y, Suwa T, Enya M, Kawachi S, Takeda J.

Mol Genet Metab. 2008 Nov;95(3):182-7. doi: 10.1016/j.ymgme.2008.07.009. Epub 2008 Aug 29.

PMID:
18760947
[PubMed - indexed for MEDLINE]
19.

In vitro studies of novel PRKAR1A mutants that extend the predicted RIα protein sequence into the 3'-untranslated open reading frame: proteasomal degradation leads to RIα haploinsufficiency and Carney complex.

Patronas Y, Horvath A, Greene E, Tsang K, Bimpaki E, Haran M, Nesterova M, Stratakis CA.

J Clin Endocrinol Metab. 2012 Mar;97(3):E496-502. doi: 10.1210/jc.2011-2220. Epub 2011 Dec 28.

PMID:
22205709
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Clinical and molecular genetics of primary pigmented nodular adrenocortical disease.

Sandrini F, Stratakis C.

Arq Bras Endocrinol Metabol. 2004 Oct;48(5):637-41. Epub 2005 Mar 7. Review.

PMID:
15761532
[PubMed - indexed for MEDLINE]
Free Article

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