Mutations in Regulatory Subunit Type 1A of Cyclic Adenosine 5′-Monophosphate-Dependent Protein Kinase (PRKAR1A): Phenotype Analysis in 353 Patients and 80 Different Genotypes-Reference-Cited by-同舟云学术

Mutations in Regulatory Subunit Type 1A of Cyclic Adenosine 5′-Monophosphate-Dependent Protein Kinase (PRKAR1A): Phenotype Analysis in 353 Patients and 80 Different Genotypes

Published:2009-06-01 Issue:6 Volume:94 Page:2085-2091
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Bertherat Jérôme¹²³,Horvath Anélia⁴,Groussin Lionel¹²³,Grabar Sophie²⁵,Boikos Sosipatros⁴,Cazabat Laure¹,Libe Rosella¹³,René-Corail Fernande¹²,Stergiopoulos Sotirios⁴,Bourdeau Isabelle⁵,Bei Thalia⁵,Clauser Eric¹⁶,Calender Alain⁷,Kirschner Lawrence S.⁸,Bertagna Xavier¹²³,Carney J. Aidan⁹,Stratakis Constantine A.⁵

Affiliation:

1. Institut National de la Santé et de la Recherche Médicale Unit 567 (J.B., L.G., L.C., R.L., F.R.-C., E.C., X.B.), Centre National de la Recherche Scientifique (CNRS) Unité Mixte de Recherche (UMR) 8104, Institut Cochin, Endocrinology, Metabolism and Cancer Department, 75014 Paris, France

2. Université Paris-Descartes (J.B., L.G., S.G., F.R.-C., X.B.), 75005 Paris France

3. Assistance Publique-Hôpitaux de Paris (J.B., L.G., R.L., X.B.), Department of Endocrinology, Hôpital Cochin, 75014 Paris, France

4. Section on Endocrinology and Genetics (A.H., S.B., S.S., I.B., T.B., C.A.S.), Program in Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892

5. Assistance Publique-Hôpitaux de Paris (S.G.), Department of Biostatistics, Hôpital Cochin, 75014 Paris, France

6. Assistance Publique-Hôpitaux de Paris (E.C.), Oncogenetics Unit, Hôpital Cochin, 75014 Paris, France

7. Unit on Genetics and Endocrine Tumors (A.C.), CNRS UMR 5201, Claude Bernard University and CHU Lyon, 69437 Lyon, France

8. Division of Endocrinology, Diabetes, and Metabolism (L.S.K.), Department of Internal Medicine, Ohio State University, Columbus, Ohio 43210

9. Department of Laboratory Medicine and Pathology (emeritus member) (J.A.C.), Mayo Clinic, Rochester, Minnesota 55905

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/94/6/2085/9065092/jcem2085.pdf

Reference39 articles.

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2. The complex of myxomas, spotty pigmentation, and endocrine overactivity.;Carney;Medicine (Baltimore),1985

3. Carney complex: the first 20 years.;Boikos;Curr Opin Oncol,2007

4. Carney complex: the complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas.;Carney;Semin Dermatol,1995

5. Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2.;Stratakis;J Clin Invest,1996

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