Jérôme Bertherat

Author PubWeight™ 134.33‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J Clin Endocrinol Metab 2005 4.07
2 SDH mutations establish a hypermethylator phenotype in paraganglioma. Cancer Cell 2013 3.24
3 Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol 2005 3.20
4 SDHA is a tumor suppressor gene causing paraganglioma. Hum Mol Genet 2010 3.07
5 An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. Lancet Oncol 2009 3.05
6 A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nat Genet 2006 2.86
7 Intraadrenal corticotropin in bilateral macronodular adrenal hyperplasia. N Engl J Med 2013 2.66
8 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. J Clin Endocrinol Metab 2009 2.22
9 Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas. J Clin Endocrinol Metab 2007 2.06
10 SNP arrays in heterogeneous tissue: highly accurate collection of both germline and somatic genetic information from unpaired single tumor samples. Am J Hum Genet 2008 2.00
11 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. Am J Hum Genet 2002 1.97
12 Mutations of beta-catenin in adrenocortical tumors: activation of the Wnt signaling pathway is a frequent event in both benign and malignant adrenocortical tumors. Cancer Res 2005 1.92
13 Gene expression profiling of human adrenocortical tumors using complementary deoxyribonucleic Acid microarrays identifies several candidate genes as markers of malignancy. J Clin Endocrinol Metab 2004 1.91
14 Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update. Hum Mutat 2010 1.81
15 ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome. N Engl J Med 2013 1.79
16 The Warburg effect is genetically determined in inherited pheochromocytomas. PLoS One 2009 1.75
17 Gene expression profiling reveals a new classification of adrenocortical tumors and identifies molecular predictors of malignancy and survival. J Clin Oncol 2009 1.73
18 Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population. Cancer Res 2006 1.72
19 Clinical and biological features in the prognosis of adrenocortical cancer: poor outcome of cortisol-secreting tumors in a series of 202 consecutive patients. J Clin Endocrinol Metab 2006 1.67
20 Adrenocortical cancer: pathophysiology and clinical management. Endocr Relat Cancer 2007 1.63
21 Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. J Clin Endocrinol Metab 2002 1.59
22 Efficiency and tolerance of mitotane in Cushing's disease in 76 patients from a single center. Eur J Endocrinol 2012 1.51
23 18F-fluorodeoxyglucose positron emission tomography as a diagnostic tool for malignancy of adrenocortical tumours? Preliminary results in 13 consecutive patients. Eur J Endocrinol 2004 1.47
24 Protein kinase A effects of an expressed PRKAR1A mutation associated with aggressive tumors. Cancer Res 2008 1.39
25 Constitutive beta-catenin activation induces adrenal hyperplasia and promotes adrenal cancer development. Hum Mol Genet 2010 1.38
26 Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. Hum Mol Genet 2011 1.38
27 Large deletions of the PRKAR1A gene in Carney complex. Clin Cancer Res 2008 1.36
28 A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. J Clin Endocrinol Metab 2006 1.35
29 Prognostic parameters of metastatic adrenocortical carcinoma. J Clin Endocrinol Metab 2006 1.30
30 Corticotroph tumor progression after adrenalectomy in Cushing's Disease: A reappraisal of Nelson's Syndrome. J Clin Endocrinol Metab 2006 1.29
31 Wnt/beta-catenin and 3',5'-cyclic adenosine 5'-monophosphate/protein kinase A signaling pathways alterations and somatic beta-catenin gene mutations in the progression of adrenocortical tumors. J Clin Endocrinol Metab 2008 1.22
32 MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. Clin Cancer Res 2012 1.22
33 Molecular genetics of adrenocortical tumours, from familial to sporadic diseases. Eur J Endocrinol 2005 1.21
34 β-catenin activation is associated with specific clinical and pathologic characteristics and a poor outcome in adrenocortical carcinoma. Clin Cancer Res 2010 1.17
35 Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas. J Clin Endocrinol Metab 2009 1.15
36 Wnt/β-catenin signalling in adrenal physiology and tumour development. Mol Cell Endocrinol 2011 1.15
37 Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2. Hum Mol Genet 2003 1.15
38 The paradoxical increase in cortisol secretion induced by dexamethasone in primary pigmented nodular adrenocortical disease involves a glucocorticoid receptor-mediated effect of dexamethasone on protein kinase A catalytic subunits. J Clin Endocrinol Metab 2009 1.15
39 Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness. Am J Hum Genet 2013 1.14
40 Cushing's disease. Best Pract Res Clin Endocrinol Metab 2009 1.14
41 Transcriptome analysis reveals that p53 and {beta}-catenin alterations occur in a group of aggressive adrenocortical cancers. Cancer Res 2010 1.14
42 Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis. Hum Mutat 2007 1.13
43 18F-Fluorodeoxyglucose positron emission tomography for the diagnosis of adrenocortical tumors: a prospective study in 77 operated patients. J Clin Endocrinol Metab 2009 1.12
44 Mutations associated with succinate dehydrogenase D-related malignant paragangliomas. Clin Endocrinol (Oxf) 2007 1.11
45 Inactivation of the Carney complex gene 1 (protein kinase A regulatory subunit 1A) inhibits SMAD3 expression and TGF beta-stimulated apoptosis in adrenocortical cells. Cancer Res 2009 1.11
46 Wnt/β-catenin pathway activation in adrenocortical adenomas is frequently due to somatic CTNNB1-activating mutations, which are associated with larger and nonsecreting tumors: a study in cortisol-secreting and -nonsecreting tumors. J Clin Endocrinol Metab 2010 1.11
47 Cushing's syndrome and fetal features resurgence in adrenal cortex-specific Prkar1a knockout mice. PLoS Genet 2010 1.09
48 WNT/β-catenin signalling is activated in aldosterone-producing adenomas and controls aldosterone production. Hum Mol Genet 2013 1.05
49 The Nelson's syndrome... revisited. Pituitary 2004 1.04
50 Adjuvant mitotane in adrenocortical carcinoma. N Engl J Med 2007 1.03
51 Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma. Hum Mol Genet 2012 1.03
52 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. Eur J Endocrinol 2007 1.02
53 Inactivation of the APC gene is constant in adrenocortical tumors from patients with familial adenomatous polyposis but not frequent in sporadic adrenocortical cancers. Clin Cancer Res 2010 1.01
54 Epithelial to mesenchymal transition is activated in metastatic pheochromocytomas and paragangliomas caused by SDHB gene mutations. J Clin Endocrinol Metab 2012 1.01
55 Identification of potential gene markers and insights into the pathophysiology of pheochromocytoma malignancy. J Clin Endocrinol Metab 2007 1.00
56 PRKAR1A mutations in primary pigmented nodular adrenocortical disease. Pituitary 2006 1.00
57 Somatic TP53 mutations are relatively rare among adrenocortical cancers with the frequent 17p13 loss of heterozygosity. Clin Cancer Res 2007 0.98
58 Familial micronodular adrenocortical disease, Cushing syndrome, and mutations of the gene encoding phosphodiesterase 11A4 (PDE11A). Am J Surg Pathol 2010 0.97
59 Identification of a CpG island methylator phenotype in adrenocortical carcinomas. J Clin Endocrinol Metab 2012 0.97
60 The diagnosis of Cushing's syndrome: an Endocrine Society Clinical Practice Guideline: commentary from a European perspective. Eur J Endocrinol 2010 0.94
61 Decreased expression of cyclic adenosine monophosphate-regulated aldose reductase (AKR1B1) is associated with malignancy in human sporadic adrenocortical tumors. J Clin Endocrinol Metab 2004 0.94
62 Analysis of the role of Igf2 in adrenal tumour development in transgenic mouse models. PLoS One 2012 0.93
63 Aberrant cortisol regulations in bilateral macronodular adrenal hyperplasia: a frequent finding in a prospective study of 32 patients with overt or subclinical Cushing's syndrome. Eur J Endocrinol 2010 0.92
64 Identification of novel genetic variants in phosphodiesterase 8B (PDE8B), a cAMP-specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours. Clin Endocrinol (Oxf) 2012 0.92
65 Rationale for anti-angiogenic therapy in pheochromocytoma and paraganglioma. Endocr Pathol 2012 0.91
66 Transcriptome analysis of adrenocortical cancers: from molecular classification to the identification of new treatments. Endocr Relat Cancer 2011 0.91
67 Silencing mutated β-catenin inhibits cell proliferation and stimulates apoptosis in the adrenocortical cancer cell line H295R. PLoS One 2013 0.91
68 Phosphodiesterases in endocrine physiology and disease. Eur J Endocrinol 2011 0.91
69 Systematic analysis of G protein-coupled receptor gene expression in adrenocorticotropin-independent macronodular adrenocortical hyperplasia identifies novel targets for pharmacological control of adrenal Cushing's syndrome. J Clin Endocrinol Metab 2010 0.90
70 Expression of serotonin7 receptor and coupling of ectopic receptors to protein kinase A and ionic currents in adrenocorticotropin-independent macronodular adrenal hyperplasia causing Cushing's syndrome. J Clin Endocrinol Metab 2006 0.90
71 Mitotane therapy in adrenocortical cancer induces CYP3A4 and inhibits 5α-reductase, explaining the need for personalized glucocorticoid and androgen replacement. J Clin Endocrinol Metab 2012 0.89
72 ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences. J Clin Endocrinol Metab 2015 0.89
73 Carney complex. Front Horm Res 2013 0.89
74 Cyclin E correlates with malignancy and adverse prognosis in adrenocortical tumors. Eur J Endocrinol 2004 0.88
75 TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma. J Clin Endocrinol Metab 2012 0.88
76 Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors. J Clin Endocrinol Metab 2012 0.88
77 Pancreatic ductal and acinar cell neoplasms in Carney complex: a possible new association. J Clin Endocrinol Metab 2011 0.87
78 ACTH-independent Cushing's syndrome with bilateral micronodular adrenal hyperplasia and ectopic adrenocortical adenoma. J Clin Endocrinol Metab 2009 0.86
79 Identification of gene expression profiles associated with cortisol secretion in adrenocortical adenomas. J Clin Endocrinol Metab 2013 0.86
80 Reduced myocardial contractility assessed by tissue Doppler echocardiography is associated with increased risk during adrenal surgery of patients with pheochromocytoma: report of a preliminary study. J Am Soc Echocardiogr 2006 0.85
81 Midnight salivary cortisol determination for assessing the outcome of transsphenoidal surgery in Cushing's disease. J Clin Endocrinol Metab 2008 0.85
82 Laparoscopic adrenalectomy for adrenocortical carcinoma: a medico-surgical perspective. Ann Endocrinol (Paris) 2012 0.85
83 Pasireotide can induce sustained decreases in urinary cortisol and provide clinical benefit in patients with Cushing's disease: results from an open-ended, open-label extension trial. Pituitary 2015 0.85
84 Heterogeneity of skin manifestations in patients with Carney complex. J Am Acad Dermatol 2008 0.85
85 One-year progression-free survival of therapy-naive patients with malignant pheochromocytoma and paraganglioma. J Clin Endocrinol Metab 2013 0.84
86 Expression of trophic amidated peptides and their receptors in benign and malignant pheochromocytomas: high expression of adrenomedullin RDC1 receptor and implication in tumoral cell survival. Endocr Relat Cancer 2010 0.84
87 Clinical, hormonal and magnetic resonance imaging (MRI) predictors of transsphenoidal surgery outcome in acromegaly. Eur J Endocrinol 2004 0.83
88 cAMP pathway alterations from the cell surface to the nucleus in adrenocortical tumors. Endocr Res 2002 0.83
89 PTHrP P3 promoter activity in breast cancer cell lines: role of Ets1 and CBP (CREB binding protein). Mol Cell Endocrinol 2007 0.82
90 The ectopic expression of the gastric inhibitory polypeptide receptor is frequent in adrenocorticotropin-independent bilateral macronodular adrenal hyperplasia, but rare in unilateral tumors. J Clin Endocrinol Metab 2002 0.82
91 Adrenocortical carcinoma and pregnancy: clinical and biological features and prognosis. Eur J Endocrinol 2010 0.82
92 Overexpression of serotonin4 receptors in cisapride-responsive adrenocorticotropin-independent bilateral macronodular adrenal hyperplasia causing Cushing's syndrome. J Clin Endocrinol Metab 2003 0.81
93 Pasireotide in Cushing's disease. N Engl J Med 2012 0.81
94 The pathophysiology, diagnosis and prognosis of adrenocortical tumors revisited by transcriptome analyses. Trends Endocrinol Metab 2010 0.81
95 Expression of progesterone and estradiol receptors in normal adrenal cortex, adrenocortical tumors, and primary pigmented nodular adrenocortical disease. Endocr Relat Cancer 2008 0.80
96 Adrenal pathophysiology: lessons from the Carney complex. Horm Res 2005 0.80
97 Hepato-pancreato-biliary lesions are present in both Carney complex and McCune Albright syndrome: comments on P. Salpea and C. Stratakis. Mol Cell Endocrinol 2013 0.80
98 Mutations of the gene for the aryl hydrocarbon receptor-interacting protein in pituitary adenomas. Horm Res 2009 0.80
99 SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma. J Clin Endocrinol Metab 2014 0.79
100 Management of Cushing's syndrome due to ectopic adrenocorticotropin secretion with 1,ortho-1, para'-dichloro-diphenyl-dichloro-ethane: findings in 23 patients from a single center. J Clin Endocrinol Metab 2010 0.79
101 Clinical and pathophysiological implications of chromosomal alterations in adrenocortical tumors: an integrated genomic approach. J Clin Endocrinol Metab 2011 0.79
102 Clinical features and treatment of pediatric somatotropinoma: case study of an aggressive tumor due to a new AIP mutation and extensive literature review. Horm Res Paediatr 2011 0.78
103 Aberrant receptor-mediated Cushing's syndrome. Horm Res 2003 0.78
104 Sequential hormonal changes in 21 patients with recurrent Cushing's disease after successful pituitary surgery. Eur J Endocrinol 2011 0.78
105 A rare cause of hypertestosteronemia in a 68-year-old patient: a Leydig cell tumor due to a somatic GNAS (guanine nucleotide-binding protein, alpha-stimulating activity polypeptide 1)-activating mutation. J Androl 2011 0.77
106 Silent, but not unseen: multimicrocystic aspect on T2-weighted MRI in silent corticotroph adenomas. Clin Endocrinol (Oxf) 2014 0.76
107 Mass-array screening of frequent mutations in cancers reveals RB1 alterations in aggressive adrenocortical carcinomas. Eur J Endocrinol 2014 0.76
108 Continuation of amiodarone therapy despite type II amiodarone-induced thyrotoxicosis. Drug Saf 2006 0.76
109 Metoclopramide stimulates catecholamine- and granin-derived peptide secretion from pheochromocytoma cells through activation of serotonin type 4 (5-HT4) receptors. Endocr Relat Cancer 2008 0.76
110 Adrenocortical cancer in Carney complex: a paradigm of endocrine tumor progression or an association of genetic predisposing factors? J Clin Endocrinol Metab 2012 0.76
111 Inactivation of the Carney complex gene 1 (PRKAR1A) alters spatiotemporal regulation of cAMP and cAMP-dependent protein kinase: a study using genetically encoded FRET-based reporters. Hum Mol Genet 2013 0.76
112 Transcription factor 3',5'-cyclic adenosine 5'-monophosphate-responsive element-binding protein (CREB) is decreased during human adrenal cortex tumorigenesis and fetal development. J Clin Endocrinol Metab 2003 0.76
113 Adrenocortical growth and cancer. Compr Physiol 2015 0.76
114 Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma. Cancer Cell 2016 0.76
115 Pathogenesis of benign adrenocortical tumors. Best Pract Res Clin Endocrinol Metab 2010 0.75
116 [Glucocorticoid treatments and adrenal function]. Rev Prat 2008 0.75
117 Primary pigmented nodular adrenocortical disease: the original 4 cases revisited after 30 years for follow-up, new investigations, and molecular genetic findings. Am J Surg Pathol 2014 0.75
118 Cardio-Oncology: The Carney Complex Type I. J Am Coll Cardiol 2016 0.75
119 [Pituitary tumors]. Rev Prat 2009 0.75
120 Closed-loop titration of propofol and remifentanil guided by Bispectral Index in a patient with extreme gigantism. J Clin Anesth 2009 0.75
121 [Corticotroph adenoma]. Presse Med 2008 0.75
122 Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1. Cornea 2015 0.75
123 [Cushing's syndrome]. Rev Prat 2008 0.75
124 THE CHALLENGE OF EARLY DIAGNOSIS OF CUSHING DISEASE RECURRENCE! Endocr Pract 2016 0.75
125 A concomitant false-negative ¹⁸F-FDG PET imaging in an adrenocortical carcinoma and a high uptake in a corresponding liver metastasis. J Clin Endocrinol Metab 2012 0.75
126 Laparoscopic Adrenalectomy in Elderly Patients. Surg Laparosc Endosc Percutan Tech 2017 0.75
127 [Adrenal cortical carcinoma: advances in the pathophysiology and management of this malignancy]. Bull Acad Natl Med 2008 0.75
128 Pregnancy does not accelerate corticotroph tumor progression in Nelson's syndrome. J Clin Endocrinol Metab 2011 0.75