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Diagnostic clinical genome and exome sequencing.

Biesecker LG, Green RC.

N Engl J Med. 2014 Sep 18;371(12):1170. doi: 10.1056/NEJMc1408914. No abstract available.


PRKACB and Carney complex.

Forlino A, Vetro A, Garavelli L, Ciccone R, London E, Stratakis CA, Zuffardi O.

N Engl J Med. 2014 Mar 13;370(11):1065-7. doi: 10.1056/NEJMc1309730. Epub 2014 Feb 26. No abstract available.


Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.

Beuschlein F, Fassnacht M, Assié G, Calebiro D, Stratakis CA, Osswald A, Ronchi CL, Wieland T, Sbiera S, Faucz FR, Schaak K, Schmittfull A, Schwarzmayr T, Barreau O, Vezzosi D, Rizk-Rabin M, Zabel U, Szarek E, Salpea P, Forlino A, Vetro A, Zuffardi O, Kisker C, Diener S, Meitinger T, Lohse MJ, Reincke M, Bertherat J, Strom TM, Allolio B.

N Engl J Med. 2014 Mar 13;370(11):1019-28. doi: 10.1056/NEJMoa1310359. Epub 2014 Feb 26.


Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing.

Salpea P, Horvath A, London E, Faucz FR, Vetro A, Levy I, Gourgari E, Dauber A, Holm IA, Morrison PJ, Keil MF, Lyssikatos C, Smith ED, Sanidad MA, Kelly JC, Dai Z, Mowrey P, Forlino A, Zuffardi O, Stratakis CA.

J Clin Endocrinol Metab. 2014 Jan;99(1):E183-8. doi: 10.1210/jc.2013-3159. Epub 2013 Dec 20.


Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.

Horvath A, Bertherat J, Groussin L, Guillaud-Bataille M, Tsang K, Cazabat L, Libé R, Remmers E, René-Corail F, Faucz FR, Clauser E, Calender A, Bertagna X, Carney JA, Stratakis CA.

Hum Mutat. 2010 Apr;31(4):369-79. doi: 10.1002/humu.21178.


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.


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.


Heterogeneity of skin manifestations in patients with Carney complex.

Mateus C, Palangié A, Franck N, Groussin L, Bertagna X, Avril MF, Bertherat J, Dupin N.

J Am Acad Dermatol. 2008 Nov;59(5):801-10. doi: 10.1016/j.jaad.2008.07.032. Epub 2008 Sep 19.


Large deletions of the PRKAR1A gene in Carney complex.

Horvath A, Bossis I, Giatzakis C, Levine E, Weinberg F, Meoli E, Robinson-White A, Siegel J, Soni P, Groussin L, Matyakhina L, Verma S, Remmers E, Nesterova M, Carney JA, Bertherat J, Stratakis CA.

Clin Cancer Res. 2008 Jan 15;14(2):388-95. doi: 10.1158/1078-0432.CCR-07-1155.


Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas.

Cazabat L, Libè R, Perlemoine K, René-Corail F, Burnichon N, Gimenez-Roqueplo AP, Dupasquier-Fediaevsky L, Bertagna X, Clauser E, Chanson P, Bertherat J, Raffin-Sanson ML.

Eur J Endocrinol. 2007 Jul;157(1):1-8.


Primary pigmented nodular adrenocortical disease (PPNAD) and pituitary adenoma in a boy with sporadic Carney complex due to a novel, de novo paternal PRKAR1A mutation (R96X).

Urban C, Weinhäusel A, Fritsch P, Sovinz P, Weinhandl G, Lackner H, Moritz A, Haas OA.

J Pediatr Endocrinol Metab. 2007 Feb;20(2):247-52.


Carney complex: pathology and molecular genetics.

Boikos SA, Stratakis CA.

Neuroendocrinology. 2006;83(3-4):189-99. Review.


PRKAR1A mutations in primary pigmented nodular adrenocortical disease.

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

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


A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia.

Horvath A, Boikos S, Giatzakis C, Robinson-White A, Groussin L, Griffin KJ, Stein E, Levine E, Delimpasi G, Hsiao HP, Keil M, Heyerdahl S, Matyakhina L, Libè R, Fratticci A, Kirschner LS, Cramer K, Gaillard RC, Bertagna X, Carney JA, Bertherat J, Bossis I, Stratakis CA.

Nat Genet. 2006 Jul;38(7):794-800. Epub 2006 Jun 11.


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.


Genetic analysis in a patient with recurrent cardiac myxoma and endocrinopathy.

Imai Y, Taketani T, Maemura K, Takeda N, Harada T, Nojiri T, Kawanami D, Monzen K, Hayashi D, Murakawa Y, Ohno M, Hirata Y, Yamazaki T, Takamoto S, Nagai R.

Circ J. 2005 Aug;69(8):994-5.


Molecular and immunohistochemical investigation of protein kinase a regulatory subunit type 1A (PRKAR1A) in odontogenic myxomas.

Perdigão PF, Stergiopoulos SG, De Marco L, Matyakhina L, Boikos SA, Gomez RS, Pimenta FJ, Stratakis CA.

Genes Chromosomes Cancer. 2005 Oct;44(2):204-11.


Down-regulation of regulatory subunit type 1A of protein kinase A leads to endocrine and other tumors.

Griffin KJ, Kirschner LS, Matyakhina L, Stergiopoulos S, Robinson-White A, Lenherr S, Weinberg FD, Claflin E, Meoli E, Cho-Chung YS, Stratakis CA.

Cancer Res. 2004 Dec 15;64(24):8811-5.


A transgenic mouse bearing an antisense construct of regulatory subunit type 1A of protein kinase A develops endocrine and other tumours: comparison with Carney complex and other PRKAR1A induced lesions.

Griffin KJ, Kirschner LS, Matyakhina L, Stergiopoulos SG, Robinson-White A, Lenherr SM, Weinberg FD, Claflin ES, Batista D, Bourdeau I, Voutetakis A, Sandrini F, Meoli EM, Bauer AJ, Cho-Chung YS, Bornstein SR, Carney JA, Stratakis CA.

J Med Genet. 2004 Dec;41(12):923-31.


Mutation of perinatal myosin heavy chain.

Stratakis CA, Bertherat J, Carney JA.

N Engl J Med. 2004 Dec 9;351(24):2556-8; author reply 2556-8. No abstract available.

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