Published in J Clin Endocrinol Metab on October 19, 2011
Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency. Am J Hum Genet (2013) 1.23
Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies. BMC Med Genet (2014) 0.82
Deficit of Anterior Pituitary Function and Variable Immune Deficiency Syndrome: A Novel Mutation. Glob Pediatr Health (2017) 0.75
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med (2014) 4.00
Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol (2005) 3.20
Guidelines of the Pituitary Society for the diagnosis and management of prolactinomas. Clin Endocrinol (Oxf) (2006) 2.56
GAD65 antigen therapy in recently diagnosed type 1 diabetes mellitus. N Engl J Med (2012) 2.01
Conditional genome engineering in Toxoplasma gondii uncovers alternative invasion mechanisms. Nat Methods (2012) 2.00
Infections in 252 patients with common variable immunodeficiency. Clin Infect Dis (2008) 1.93
Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. Genes Dev (2003) 1.93
Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum (2010) 1.75
Macroprolactinemia revisited: a study on 106 patients. J Clin Endocrinol Metab (2002) 1.74
Ketoconazole in Cushing's disease: is it worth a try? J Clin Endocrinol Metab (2014) 1.72
High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas. Eur J Endocrinol (2011) 1.69
Clinical and molecular variability in congenital dyserythropoietic anaemia type I. Br J Haematol (2005) 1.62
Hyperdiploidy with 58-66 chromosomes in childhood B-acute lymphoblastic leukemia is highly curable: 58951 CLG-EORTC results. Blood (2013) 1.59
18F-FDG avidity of pheochromocytomas and paragangliomas: a new molecular imaging signature? J Nucl Med (2009) 1.57
Regulation of Cre recombinase by ligand-induced complementation of inactive fragments. Nucleic Acids Res (2003) 1.57
Regulation of prolactin, GH, and Pit-1 gene expression in anterior pituitary by Pitx2: An approach using Pitx2 mutants. Endocrinology (2002) 1.53
Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. J Clin Endocrinol Metab (2007) 1.53
Romiplostim in children with chronic immune thrombocytopenia (ITP): the French experience. Br J Haematol (2013) 1.49
Risk factors and causes of death in MEN1 disease. A GTE (Groupe d'Etude des Tumeurs Endocrines) cohort study among 758 patients. World J Surg (2010) 1.48
Temozolomide treatment in aggressive pituitary tumors and pituitary carcinomas: a French multicenter experience. J Clin Endocrinol Metab (2010) 1.46
B-cell and T-cell phenotypes in CVID patients correlate with the clinical phenotype of the disease. J Clin Immunol (2010) 1.39
Absence of IDH mutation identifies a novel radiologic and molecular subtype of WHO grade II gliomas with dismal prognosis. Acta Neuropathol (2010) 1.36
Role of Brg1 and HDAC2 in GR trans-repression of the pituitary POMC gene and misexpression in Cushing disease. Genes Dev (2006) 1.35
Rituximab therapy for childhood Evans syndrome. Haematologica (2007) 1.33
A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes. J Clin Endocrinol Metab (2009) 1.32
Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. Medicine (Baltimore) (2012) 1.31
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations. J Clin Endocrinol Metab (2004) 1.29
Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. J Clin Endocrinol Metab (2010) 1.24
Long-term safety of pegvisomant in patients with acromegaly: comprehensive review of 1288 subjects in ACROSTUDY. J Clin Endocrinol Metab (2012) 1.24
Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients. J Clin Endocrinol Metab (2010) 1.21
Prospective endoscopic ultrasonographic evaluation of the frequency of nonfunctioning pancreaticoduodenal endocrine tumors in patients with multiple endocrine neoplasia type 1. Am J Gastroenterol (2006) 1.19
Association of prenatal and postnatal exposure to lopinavir-ritonavir and adrenal dysfunction among uninfected infants of HIV-infected mothers. JAMA (2011) 1.19
PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption. J Clin Endocrinol Metab (2012) 1.19
The selector gene Pax7 dictates alternate pituitary cell fates through its pioneer action on chromatin remodeling. Genes Dev (2012) 1.16
A new prognostic clinicopathological classification of pituitary adenomas: a multicentric case-control study of 410 patients with 8 years post-operative follow-up. Acta Neuropathol (2013) 1.15
Interferon-alpha-induced hyperthyroidism: a three-stage evolution from silent thyroiditis towards Graves' disease. Eur J Endocrinol (2006) 1.14
Long-term results of stereotactic radiosurgery in secretory pituitary adenomas. J Clin Endocrinol Metab (2009) 1.14
[Cutaneous and bone metastases revealing hepatocarcinoma]. Gastroenterol Clin Biol (2005) 1.11
Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas. J Clin Endocrinol Metab (2007) 1.11
Functional characterization of nonmetastatic paraganglioma and pheochromocytoma by (18) F-FDOPA PET: focus on missed lesions. Clin Endocrinol (Oxf) (2013) 1.08
Pituitary carcinomas and aggressive pituitary tumours: merits and pitfalls of temozolomide treatment. Clin Endocrinol (Oxf) (2012) 1.08
A genome-wide approach reveals novel imprinted genes expressed in the human placenta. Epigenetics (2012) 1.08
Epilepsy related to hypothalamic hamartomas: surgical management with special reference to gamma knife surgery. Childs Nerv Syst (2006) 1.07
Prevalence, characteristics and prognosis of MEN 1-associated glucagonomas, VIPomas, and somatostatinomas: study from the GTE (Groupe des Tumeurs Endocrines) registry. Gastroenterol Clin Biol (2004) 1.07
Imaging work-up for screening of paraganglioma and pheochromocytoma in SDHx mutation carriers: a multicenter prospective study from the PGL.EVA Investigators. J Clin Endocrinol Metab (2012) 1.06
Acromegaly and pregnancy: a retrospective multicenter study of 59 pregnancies in 46 women. J Clin Endocrinol Metab (2010) 1.05
Expression of aryl hydrocarbon receptor (AHR) and AHR-interacting protein in pituitary adenomas: pathological and clinical implications. Endocr Relat Cancer (2009) 1.03
Genetic screening of combined pituitary hormone deficiency: experience in 195 patients. J Clin Endocrinol Metab (2006) 1.02
Efficacy and safety of rituximab in common variable immunodeficiency-associated immune cytopenias: a retrospective multicentre study on 33 patients. Br J Haematol (2011) 1.00
Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. Hum Mutat (2007) 1.00
Pituitary stem cell update and potential implications for treating hypopituitarism. Endocr Rev (2011) 0.99
Cushing's disease. Orphanet J Rare Dis (2012) 0.98
The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature. Cardiovasc Hematol Agents Med Chem (2006) 0.98
Treatment of pituitary adenomas by fractionated stereotactic radiotherapy: a prospective study of 110 patients. Int J Radiat Oncol Biol Phys (2005) 0.97
Frequent large germline HRPT2 deletions in a French National cohort of patients with primary hyperparathyroidism. J Clin Endocrinol Metab (2013) 0.96
A new specific succinate-glutamate metabolomic hallmark in SDHx-related paragangliomas. PLoS One (2013) 0.96
Pharmacokinetic evidence for suboptimal treatment of adrenal insufficiency with currently available hydrocortisone tablets. Clin Pharmacokinet (2010) 0.95
Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis. Eur J Endocrinol (2013) 0.94
Prognostic factors in prolactin pituitary tumors: clinical, histological, and molecular data from a series of 94 patients with a long postoperative follow-up. J Clin Endocrinol Metab (2010) 0.93
Detection of genetic hypopituitarism in an adult population of idiopathic pituitary insufficiency patients with growth hormone deficiency. Pituitary (2011) 0.93
The analysis of quantitative expression of somatostatin and dopamine receptors in gastro-entero-pancreatic tumours opens new therapeutic strategies. Eur J Endocrinol (2006) 0.93
Prolactinomas resistant to standard doses of cabergoline: a multicenter study of 92 patients. Eur J Endocrinol (2012) 0.92
Control of IGF-I levels with titrated dosing of lanreotide Autogel over 48 weeks in patients with acromegaly. Clin Endocrinol (Oxf) (2008) 0.92
Risk factors and long-term course of thyroid dysfunction during antiviral treatments in 221 patients with chronic hepatitis C. Gastroenterol Clin Biol (2005) 0.92
Outcome of gamma knife radiosurgery in 82 patients with acromegaly: correlation with initial hypersecretion. J Clin Endocrinol Metab (2005) 0.92
Role of stereotactic radiosurgery in the management of pituitary adenomas. Nat Rev Endocrinol (2010) 0.92
Cooperation between cyclin E and p27(Kip1) in pituitary tumorigenesis. Mol Endocrinol (2010) 0.92
A potential inhibitory role for the new truncated variant of somatostatin receptor 5, sst5TMD4, in pituitary adenomas poorly responsive to somatostatin analogs. J Clin Endocrinol Metab (2010) 0.92
An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain. J Clin Endocrinol Metab (2005) 0.91
Inherited MST1 deficiency underlies susceptibility to EV-HPV infections. PLoS One (2012) 0.91
Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. J Clin Endocrinol Metab (2014) 0.90
Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. J Clin Endocrinol Metab (2005) 0.89