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Literature DB >> 9805140

Carney complex: diagnosis and management of the complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas.

C A Stratakis, L S Kirschner, J A Carney.

Abstract

Entities: Disease Species

Mesh：

Year: 1998 PMID： 9805140 DOI： 10.1002/(sici)1096-8628(19981102)80:2<183::aid-ajmg19>3.0.co;2-i

Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299

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Cited

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18 in total

Review 1. Novel genetic mutation in the background of Carney complex.

Authors: Csaba Halászlaki; István Takács; Henriett Butz; Attila Patócs; Péter Lakatos
Journal: Pathol Oncol Res Date: 2012-04 Impact factor: 3.201

2. A novel splice site mutation of the PRKAR1A gene, C.440+5 G>C, in a Chinese family with Carney complex.

Authors: J Fu; F Lai; Y Chen; X Wan; G Wei; Y Li; H Xiao; X Cao
Journal: J Endocrinol Invest Date: 2018-01-09 Impact factor: 4.256

3. Organ-sparing surgery for large cell calcifying Sertoli cell tumour in a patient with Carney complex.

Authors: Maria José Freire; Pedro Nunes; LuÃ S Sousa; Arnaldo Figueiredo
Journal: BMJ Case Rep Date: 2017-07-14

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

Authors: Anélia Horvath; Jérôme Bertherat; Lionel Groussin; Marine Guillaud-Bataille; Kitman Tsang; Laure Cazabat; Rosella Libé; Elaine Remmers; Fernande René-Corail; Fabio Rueda Faucz; Eric Clauser; Alain Calender; Xavier Bertagna; J Aidan Carney; Constantine A Stratakis
Journal: Hum Mutat Date: 2010-04 Impact factor: 4.878

Review 5. Carney complex: an update.

Authors: Ricardo Correa; Paraskevi Salpea; Constantine A Stratakis
Journal: Eur J Endocrinol Date: 2015-06-30 Impact factor: 6.664

Review 6. Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes.

Authors: Fausto J Rodriguez; Constantine A Stratakis; D Gareth Evans
Journal: Acta Neuropathol Date: 2011-12-31 Impact factor: 17.088

Carney complex: diagnosis and management of the complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas.

Review 1. Novel genetic mutation in the background of Carney complex.

2. A novel splice site mutation of the PRKAR1A gene, C.440+5 G>C, in a Chinese family with Carney complex.

3. Organ-sparing surgery for large cell calcifying Sertoli cell tumour in a patient with Carney complex.

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

Review 5. Carney complex: an update.

Review 6. Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes.

Review 7. Brain metastasis of cardiac myxoma: case report and review of the literature.

8. Pituitary pathology in Carney complex patients.

9. PRKAR1A gene analysis and protein kinase A activity in endometrial tumors.

10. Novel Mutation in PRKAR1A in Carney Complex.