(Q34571810)

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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

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1 reference

Europe PubMed Central

3 August 2017

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 (English)

1 reference

Europe PubMed Central

3 August 2017

1 reference

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Marine Guillaud-Bataille

8

object named as

Marine Guillaud-Bataille

0 references

Marie-Laure Raffin-Sanson

11

object named as

Marie-Laure Raffin-Sanson

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object named as

Bruno Ragazzon

7

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object named as

Rossella Libé

1

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Lionel Groussin

object named as

Lionel Groussin

9

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Jérome Bertherat

object named as

Jerome Bertherat

19

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Constantine A Stratakis

20

object named as

Constantine A Stratakis

1 reference

Europe PubMed Central

3 August 2017

author name string

Anelia Horvath

2

1 reference

Europe PubMed Central

3 August 2017

Delphine Vezzosi

3

1 reference

Europe PubMed Central

3 August 2017

Amato Fratticci

4

1 reference

Europe PubMed Central

3 August 2017

Joel Coste

5

1 reference

Europe PubMed Central

3 August 2017

Karine Perlemoine

6

1 reference

Europe PubMed Central

3 August 2017

Eric Clauser

10

1 reference

Europe PubMed Central

3 August 2017

Jennifer Siegel

12

1 reference

Europe PubMed Central

3 August 2017

Jason Moran

13

1 reference

Europe PubMed Central

3 August 2017

Limor Drori-Herishanu

14

1 reference

Europe PubMed Central

3 August 2017

Fabio Rueda Faucz

15

1 reference

Europe PubMed Central

3 August 2017

Maya Lodish

16

1 reference

Europe PubMed Central

3 August 2017

Maria Nesterova

17

1 reference

Europe PubMed Central

3 August 2017

Xavier Bertagna

18

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Europe PubMed Central

3 August 2017

language of work or name

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publication date

3 November 2010

1 reference

Europe PubMed Central

3 August 2017

The Journal of Clinical Endocrinology and Metabolism

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Europe PubMed Central

3 August 2017

96

1 reference

Europe PubMed Central

3 August 2017

1

1 reference

Europe PubMed Central

3 August 2017

E208-14

1 reference

Europe PubMed Central

3 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038483

7 July 2018

Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038483

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038483

7 July 2018

Genetic aspects of testicular germ cell tumors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038483

7 July 2018

Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038483

7 July 2018

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038483

7 July 2018

Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038483

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038483

7 July 2018

Testicular germ-cell tumours in a broader perspective.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038483

7 July 2018

Association studies for finding cancer-susceptibility genetic variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038483

7 July 2018

Modifier genes and protective alleles in humans and mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038483

7 July 2018

Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038483

7 July 2018

Beyond Mendel: an evolving view of human genetic disease transmission

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038483

7 July 2018

Modifier genes in mice and humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038483

7 July 2018

Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038483

7 July 2018

Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038483

7 July 2018

The complex of myxomas, spotty pigmentation, and endocrine overactivity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038483

7 July 2018

Analysis of genetic variants of phosphodiesterase 11A in acromegalic patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038483

27 October 2018

Genome-wide linkage screen for testicular germ cell tumour susceptibility loci

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038483

27 October 2018

Finding genetic modifiers of cystic fibrosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3038483

27 October 2018

Genetic modifiers of lung disease in cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/21047926

12 December 2020

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Identifiers

10.1210/JC.2010-1704

1 reference

Europe PubMed Central

3 August 2017

1 reference

Europe PubMed Central

3 August 2017

1 reference

Europe PubMed Central

3 August 2017

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