Search Results - "Barlier, Anne A."
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Everolimus and Octreotide for Patients with Recurrent Meningioma: Results from the Phase II CEVOREM Trial
Published in Clinical cancer research (01-02-2020)“…Aggressive meningiomas that progress after surgery/radiotherapy represent an unmet medical need. Strong and constant expression of SSTR2A receptors and…”
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From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network
Published in European journal of endocrinology (01-12-2016)“…Objective Disorders caused by impairments in the parathyroid hormone (PTH) signalling pathway are historically classified under the term…”
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Prospective comparison of Ga-68-DOTATATE and F-18-FDOPA PET/CT in patients with various pheochromocytomas and paragangliomas with emphasis on sporadic cases
Published in European journal of nuclear medicine and molecular imaging (01-07-2016)“…Purpose Pheochromocytomas/paragangliomas (PHEOs/PGLs) overexpress ă somatostatin receptors and recent studies have already shown excellent ă results in the…”
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IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency
Published in European journal of endocrinology (01-12-2022)“…Design Thyroid-stimulating hormone deficiency (TSHD) is a rare disease. It may be isolated, secondary to abnormalities of genes involved in TSH biosynthesis,…”
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Role of the tumor microenvironment in digestive neuroendocrine tumors
Published in Endocrine-related cancer (01-11-2018)“…Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) represent a group of heterogeneous tumors whose incidence increased over the past few years. Around…”
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A new prognostic clinicopathological classification of pituitary adenomas: a multicentric case–control study of 410 patients with 8 years post-operative follow-up
Published in Acta neuropathologica (01-07-2013)“…Pituitary adenomas are currently classified by histological, immunocytochemical and numerous ultrastructural characteristics lacking unequivocal prognostic…”
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Early Detection of Relapse by ctDNA Sequencing in a Patient with Metastatic Thymic Tumor and MEN1 Mosaicism
Published in The journal of clinical endocrinology and metabolism (01-10-2022)“…Abstract Context Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by inactivating mutations in the MEN1 gene. In the…”
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Absence of IDH mutation identifies a novel radiologic and molecular subtype of WHO grade II gliomas with dismal prognosis
Published in Acta neuropathologica (01-12-2010)“…The phenotypic heterogeneity of low-grade gliomas (LGGs) is still inconsistently explained by known molecular abnormalities in patients treated according to…”
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Germinal defects of SDHx genes in patients with isolated pituitary adenoma
Published in European journal of endocrinology (01-10-2020)“…Background: The ‘3PAs’ syndrome, associating pituitary adenoma (PA) and pheochromocytoma/paraganglioma (PPGL), is sometimes associated with mutations in…”
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Pheochromocytoma surgery without systematic preoperative pharmacological preparation: insights from a referral tertiary center experience
Published in Surgical endoscopy (01-02-2021)“…Background Despite significant advances in imaging and genetics, as well as surgical and anesthetic innovations, morbidity in pheochromocytoma surgery remains…”
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Octreotide therapy in meningiomas: in vitro study, clinical correlation, and literature review
Published in Journal of neurosurgery (01-09-2017)“…OBJECTIVE Meningiomas express somatostatin receptor subtype 2 (SST2), which is targeted by the somatostatin analog octreotide. However, to date, using…”
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Looking beyond the thyroid: advances in the understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms
Published in Endocrine-related cancer (01-02-2018)“…Over the last years, the knowledge of MEN2 and non-MEN2 familial forms of pheochromocytoma (PHEO) has increased. In MEN2, PHEO is the second most frequent…”
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Kinome rewiring during acquired drug resistance in neuroendocrine neoplasms
Published in Endocrine-related cancer (01-01-2021)“…Although there is evidence of a significant rise of neuroendocrine neoplasms (NENs) incidence, current treatments are largely insufficient due to somewhat poor…”
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Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis
Published in European journal of endocrinology (01-04-2013)“…ContextGermline mutations in the aryl hydrocarbon receptor interacting protein gene (AIP) have been identified in young patients (age ≤30 years old) with…”
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First Report of Bilateral Pheochromocytoma in the Clinical Spectrum of HIF2A-Related Polycythemia-Paraganglioma Syndrome
Published in The journal of clinical endocrinology and metabolism (01-05-2013)“…Context: Molecular genetic research has so far resulted in the identification of 10 well-characterized susceptibility genes for hereditary pheochromocytoma…”
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Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency
Published in European journal of human genetics : EJHG (01-02-2019)“…LHX3 is an LIM domain transcription factor involved in the early steps of pituitary ontogenesis. We report here functional studies of three allelic variants,…”
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Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling?
Published in European journal of endocrinology (01-07-2022)“…MEN1 is an autosomal dominant hereditary syndrome characterized by several endocrine tumors, in most cases affecting the parathyroid glands, pancreas, and…”
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P18.07.A Hippo signaling pathway is strongly involved in meningioma tumorigenesis
Published in Neuro-oncology (Charlottesville, Va.) (05-09-2022)“…Abstract Background Recurrent and aggressive meningiomas remain an unmet medical need in neuro-oncology. In mammals, Hippo signaling pathway is responsible for…”
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Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome
Published in The Journal of pediatrics (01-11-2018)“…The GNAS postzygotic mosaic activating mutations involved in fibrous dysplasia and Mc Cune Albright syndrome (FD/MAS) are not detectable in leukocytes by…”
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