187 related articles for article (PubMed ID: 20190548)
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. PubMed ID: 20190548
[TBL] [Abstract][Full Text] [Related]
2. PRKAR1A mutations in primary pigmented nodular adrenocortical disease.
Cazabat L; Ragazzon B; Groussin L; Bertherat J
Pituitary; 2006; 9(3):211-9. PubMed ID: 17036196
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 16464939
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 22112814
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 12213893
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 19915019
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 20924687
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 16192737
[TBL] [Abstract][Full Text] [Related]
9. A novel splice site mutation of the PRKAR1A gene, C.440+5 G>C, in a Chinese family with Carney complex.
Fu J; Lai F; Chen Y; Wan X; Wei G; Li Y; Xiao H; Cao X
J Endocrinol Invest; 2018 Aug; 41(8):909-917. PubMed ID: 29318463
[TBL] [Abstract][Full Text] [Related]
10. Carney Complex Complicated with Primary Pigmented Nodular Adrenocortical Disease without Cushing's Syndrome Recurrence for Five Years after Unilateral Adrenalectomy.
Tsurutani Y; Kiriyama K; Kondo M; Hasebe M; Sata A; Mizuno Y; Sugisawa C; Saito J; Nishikawa T
Intern Med; 2022; 61(2):205-211. PubMed ID: 35034934
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 18419788
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 21047926
[TBL] [Abstract][Full Text] [Related]
13. A rare case of familial Cushing's syndrome with a common presentation of weight gain due to a mutation of the PRKAR1A gene causing isolated primary pigmented nodular adrenocortical disease.
Poukoulidou T; Maiter D; Bertherat J; Beauloye V
J Pediatr Endocrinol Metab; 2014 Sep; 27(9-10):1005-9. PubMed ID: 24859511
[TBL] [Abstract][Full Text] [Related]
14. 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; 16(2):198-204. PubMed ID: 19833579
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 19293268
[TBL] [Abstract][Full Text] [Related]
16.
Kiefer FW; Winhofer Y; Iacovazzo D; Korbonits M; Wolfsberger S; Knosp E; Trautinger F; Höftberger R; Krebs M; Luger A; Gessl A
Eur J Endocrinol; 2017 Aug; 177(2):K7-K12. PubMed ID: 28522647
[TBL] [Abstract][Full Text] [Related]
17. [Carney complex].
Losada Grande EJ; Al Kassam Martínez D; González Boillos M
Endocrinol Nutr; 2011; 58(6):308-14. PubMed ID: 21536508
[TBL] [Abstract][Full Text] [Related]
18. Phenotypic Variability in a Family with Carney Complex Accompanied by a Novel Mutation Involving PRKAR1A.
Kubo H; Tsurutani Y; Sugisawa C; Sunouchi T; Hirose R; Saito J
Tohoku J Exp Med; 2022 Jul; 257(4):337-345. PubMed ID: 35732416
[TBL] [Abstract][Full Text] [Related]
19. Systematic screening for PRKAR1A gene rearrangement in Carney complex: identification and functional characterization of a new in-frame deletion.
Bataille MG; 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; 2014 Jan; 170(1):151-160. PubMed ID: 24144965
[TBL] [Abstract][Full Text] [Related]
20. 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; 63(17):5308-19. PubMed ID: 14500362
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
