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1.
A cross-disorder dosage sensitivity map of the human genome.
Cell
; 185(16): 3041-3055.e25, 2022 08 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35917817
2.
Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.
Genet Med
; 17(8): 623-9, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-25356966
3.
Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings.
Am J Obstet Gynecol
; 213(2): 214.e1-5, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-25843063
4.
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia.
Nat Genet
; 38(7): 794-800, 2006 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-16767104
5.
Large deletions of the PRKAR1A gene in Carney complex.
Clin Cancer Res
; 14(2): 388-95, 2008 Jan 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-18223213
6.
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Genome Med
; 11(1): 16, 2019 03 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-30909959
7.
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Genome Med
; 11(1): 12, 2019 02 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-30819258
8.
An immortalized human cell line bearing a PRKAR1A-inactivating mutation: effects of overexpression of the wild-type Allele and other protein kinase A subunits.
J Clin Endocrinol Metab
; 93(2): 565-71, 2008 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-18056771
9.
Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.
Eur J Hum Genet
; 16(1): 79-88, 2008 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-17667967
10.
Multiple gastrointestinal stromal and other tumors caused by platelet-derived growth factor receptor alpha gene mutations: a case associated with a germline V561D defect.
J Clin Endocrinol Metab
; 92(9): 3728-32, 2007 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-17566086
11.
Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors.
J Clin Endocrinol Metab
; 92(8): 2938-43, 2007 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-17535989
12.
A mouse model for the Carney complex tumor syndrome develops neoplasia in cyclic AMP-responsive tissues.
Cancer Res
; 65(11): 4506-14, 2005 Jun 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-15930266
13.
17q22-24 chromosomal losses and alterations of protein kinase a subunit expression and activity in adrenocorticotropin-independent macronodular adrenal hyperplasia.
J Clin Endocrinol Metab
; 91(9): 3626-32, 2006 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-16772351
14.
Co-expression of estrogen receptor-alpha and targets of estrogen receptor action in proliferating monkey mammary epithelial cells.
Breast Cancer Res
; 8(1): R10, 2006.
Artículo
en Inglés
| MEDLINE | ID: mdl-16417658
15.
Down-regulation of regulatory subunit type 1A of protein kinase A leads to endocrine and other tumors.
Cancer Res
; 64(24): 8811-5, 2004 Dec 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-15604237
16.
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.
Cancer Res
; 63(17): 5308-19, 2003 Sep 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-14500362
17.
Gene array analysis of macronodular adrenal hyperplasia confirms clinical heterogeneity and identifies several candidate genes as molecular mediators.
Oncogene
; 23(8): 1575-85, 2004 Feb 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-14767469
18.
Tau is hyperphosphorylated in the insulin-like growth factor-I null brain.
Endocrinology
; 146(12): 5086-91, 2005 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-16123158
19.
Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation.
J Clin Endocrinol Metab
; 90(6): 3773-9, 2005 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-15741255
20.
Molecular cloning, chromosomal localization of human peripheral-type benzodiazepine receptor and PKA regulatory subunit type 1A (PRKAR1A)-associated protein PAP7, and studies in PRKAR1A mutant cells and tissues.
FASEB J
; 17(9): 1189-91, 2003 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-12692076