1 |
Mutation of perinatal myosin heavy chain associated with a Carney complex variant.
6
24
56
61
|
Veugelers M...Basson CT
|
15282353 |
2004 |
2 |
Mutation of perinatal myosin heavy chain.
24
56
6
|
Stratakis CA...Carney JA
|
15590965 |
2004 |
3 |
Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8.
6
56
61
|
Toydemir RM...Bamshad MJ
|
17041932 |
2006 |
4 |
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds.
61
6
24
|
Groussin L...Bertherat J
|
16464939 |
2006 |
5 |
Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD.
24
6
61
|
Groussin L...Bertherat J
|
12424709 |
2002 |
6 |
Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.
61
6
24
|
Kirschner LS...Stratakis CA
|
10973256 |
2000 |
7 |
The myxoma syndrome: an unusual entity. A family study.
56
6
|
Chaudron JM...Luwaert R
|
1600999 |
1992 |
8 |
In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay.
61
6
|
Greene EL...Stratakis CA
|
18241045 |
2008 |
9 |
Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation.
61
6
|
Minzer-Conzetti K...Slavotinek A
|
18049072 |
2008 |
10 |
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.
6
61
|
Veugelers M...Basson CT
|
15371594 |
2004 |
11 |
Carney Complex
61
6
|
Stratakis CA...Raygada M
|
20301463 |
2003 |
12 |
Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease.
61
6
|
Groussin L...Bertherat J
|
12213893 |
2002 |
13 |
Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex.
61
6
|
Kirschner LS...Stratakis CA
|
11115848 |
2000 |
14 |
Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex.
6
61
|
Casey M...Basson CT
|
10974026 |
2000 |
15 |
Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion.
24
61
|
Stelmachowska-Banas M...Korbonits M
|
28973408 |
2017 |
16 |
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
6
|
Hampel H...Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee
|
25394175 |
2015 |
17 |
PRKACB and Carney complex.
61
24
|
Forlino A...Zuffardi O
|
24571725 |
2014 |
18 |
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing.
61
24
|
Salpea P...Stratakis CA
|
24170103 |
2014 |
19 |
Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly.
6
|
Bonapace G...Concolino D
|
20949528 |
2010 |
20 |
Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.
24
61
|
Horvath A...Stratakis CA
|
20358582 |
2010 |
21 |
Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.
24
61
|
Bertherat J...Stratakis CA
|
19293268 |
2009 |
22 |
Heterogeneity of skin manifestations in patients with Carney complex.
61
24
|
Mateus C...Dupin N
|
18804312 |
2008 |
23 |
Large deletions of the PRKAR1A gene in Carney complex.
24
61
|
Horvath A...Stratakis CA
|
18223213 |
2008 |
24 |
Molecular and immunohistochemical investigation of protein kinase a regulatory subunit type 1A (PRKAR1A) in odontogenic myxomas.
61
24
|
Perdigao PF...Stratakis CA
|
16001434 |
2005 |
25 |
GH-secreting pituitary adenomas infrequently contain inactivating mutations of PRKAR1A and LOH of 17q23-24.
61
24
|
Yamasaki H...Yoshimoto K
|
12641630 |
2003 |
26 |
Surgical correction of trismus in a child with Hecht syndrome.
6
|
Lefaivre JF...Aitchison MJ
|
12800911 |
2003 |
27 |
Isolated familial somatotropinomas: clinical and genetic considerations.
24
61
|
Frohman LA
|
12813918 |
2003 |
28 |
PRKAR1A, one of the Carney complex genes, and its locus (17q22-24) are rarely altered in pituitary tumours outside the Carney complex.
61
24
|
Sandrini F...Stratakis CA
|
12471216 |
2002 |
29 |
Regulatory subunit type I-alpha of protein kinase A (PRKAR1A): a tumor-suppressor gene for sporadic thyroid cancer.
61
24
|
Sandrini F...Stratakis CA
|
12203783 |
2002 |
30 |
Genetic alterations of Carney complex are not present in sporadic cardiac myxomas.
61
24
|
Fogt F...Narula N
|
11744997 |
2002 |
31 |
Genetic background of adrenocortical tumor development.
61
24
|
Kjellman M...Backdahl M
|
11572037 |
2001 |
32 |
Ovarian lesions in Carney complex: clinical genetics and possible predisposition to malignancy.
61
24
|
Stratakis CA...Carney JA
|
11095480 |
2000 |
33 |
Neurosurgical implications of Carney complex.
24
61
|
Watson JC...Oldfield EH
|
10701527 |
2000 |
34 |
Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease.
61
24
|
Stratakis CA...Papanicolaou DA
|
10523219 |
1999 |
35 |
Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2.
61
24
|
Stratakis CA...Chrousos GP
|
8609225 |
1996 |
36 |
Trismus pseudocamptodactyly syndrome: Dutch-Kentucky syndrome.
6
|
Mabry CC...Sorenson HW
|
4443857 |
1974 |
37 |
The trismus-pseudocampylodactyly syndrome.
6
|
ter Haar BG...van Hoof RF
|
4837286 |
1974 |
38 |
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.
24
|
Beuschlein F...Allolio B
|
24571724 |
2014 |
39 |
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.
24
|
Cazabat L...Raffin-Sanson ML
|
17609395 |
2007 |
40 |
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia.
24
|
Horvath A...Stratakis CA
|
16767104 |
2006 |
41 |
cAMP-dependent protein kinase regulatory subunit type IIbeta: active site mutations define an isoform-specific network for allosteric signaling by cAMP.
24
|
Zawadzki KM...Taylor SS
|
14625280 |
2004 |
42 |
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.
24
|
Bertherat J...Stratakis CA
|
14500362 |
2003 |
43 |
Isolated familial somatotropinomas: does the disease map to 11q13 or to 2p16?
24
|
Stratakis CA...Kirschner LS
|
11134164 |
2000 |
44 |
History of the multiple endocrine neoplasia workshops and overview of MEN2019.
61
|
Grubbs EG...Gagel RF
|
32508314 |
2020 |
45 |
Liver findings in patients with Carney complex, germline PRKAR1A pathogenic variants, and link to cardiac myxomas.
61
|
Tirosh A...Gharib AM
|
32302974 |
2020 |
46 |
Update on primary micronodular bilateral adrenocortical diseases.
61
|
Maillet M...Lacroix A
|
32209819 |
2020 |
47 |
Adrenocortical tumorigenesis: Lessons from genetics.
61
|
Kamilaris CDC...Stratakis CA
|
32507359 |
2020 |
48 |
Clinical and Molecular Update on Genetic Causes of Pituitary Adenomas.
61
|
Vasilev V...Beckers A
|
32299111 |
2020 |
49 |
Pigmented spots on the lacrimal caruncle: a key to the diagnosis of Carney complex in a child with multiple lentigines.
61
|
Lenormand C...Lipsker D
|
32301134 |
2020 |
50 |
[Hereditary predispositions to follicular thyroid tumors].
61
|
Decaussin-Petrucci M
|
32192806 |
2020 |