Lista de obras - Anne Barlier - Dominio Público Uruguay

18F-FDG avidity of pheochromocytomas and paragangliomas: a new molecular imaging signature?

artículo científico publicado en 2009

A Familial Form of Congenital Hypopituitarism Due to aPROP1Mutation in a Large Kindred: Phenotypic andin VitroFunctional Studies

artículo científico publicado en 2004

A MEN1 syndrome with a paraganglioma.

artículo científico publicado en 2013

A Neonatal Form of Isolated ACTH Deficiency Frequently Associated with Tpit Gene Mutations

article

A Novel Dysfunctional LHX4 Mutation with High Phenotypical Variability in Patients with Hypopituitarism

artículo científico publicado en 2008

A genome-wide approach reveals novel imprinted genes expressed in the human placenta

artículo científico publicado en 2012

A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency

artículo científico publicado en 1996

A new specific succinate-glutamate metabolomic hallmark in SDHx-related paragangliomas

artículo científico publicado en 2013

A potential inhibitory role for the new truncated variant of somatostatin receptor 5, sst5TMD4, in pituitary adenomas poorly responsive to somatostatin analogs

artículo científico publicado en 2010

Absence of IDH mutation identifies a novel radiologic and molecular subtype of WHO grade II gliomas with dismal prognosis

artículo científico publicado en 2010

An Uncommon Phenotype with Familial Central Hypogonadism Caused by a NovelPROP1Gene Mutant Truncated in the Transactivation Domain

article

Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families.

artículo científico publicado en 2007

Case Report of GNAS Epigenetic Defect Revealed by a Congenital Hypothyroidism

artículo científico publicado en 2015

Case seminar: a young female with acute hyponatremia and a sellar mass

artículo científico publicado en 2011

Cervical paragangliomas: is SDH genetic analysis systematically required?

artículo científico publicado en 2007

Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients.

artículo científico publicado en 2015

Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study

artículo científico publicado en 2010

Combined pituitary hormone deficiency: current and future status

artículo científico publicado en 2014

Combined treatment by octreotide and everolimus: Octreotide enhances inhibitory effect of everolimus in aggressive meningiomas

artículo científico publicado en 2015

Combining Cadherin Expression with Molecular Markers Discriminates Invasiveness in Growth Hormone and Prolactin Pituitary Adenomas.

artículo científico publicado en 2015

Comparison of [111In]pentetreotide-SPECT and [18F]FDOPA-PET in the localization of extra-adrenal paragangliomas: the case for a patient-tailored use of nuclear imaging modalities

artículo científico publicado en 2011

Conditional overexpression of the wild-type Gs alpha as the gsp oncogene initiates chronic extracellularly regulated kinase 1/2 activation and hormone hypersecretion in pituitary cell lines

scientific journal article

Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause of Neonatal Death, Explained byTPITGene Mutations

artículo científico publicado en 2004

Congenital pituitary hormone deficiencies: role ofLHX3/LHX4genes

article

Deficit in anterior pituitary function and variable immune deficiency (DAVID) in children presenting with adrenocorticotropin deficiency and severe infections.

artículo científico publicado en 2011

Demonstration of enhanced potency of a chimeric somatostatin-dopamine molecule, BIM-23A387, in suppressing growth hormone and prolactin secretion from human pituitary somatotroph adenoma cells.

artículo científico publicado en 2002

Detection of genetic hypopituitarism in an adult population of idiopathic pituitary insufficiency patients with growth hormone deficiency.

artículo científico publicado en 2011

Dose-dependent dual role of PIT-1 (POU1F1) in somatolactotroph cell proliferation and apoptosis

artículo científico publicado en 2015

Déficit hypophysaire combiné multiple : aspects cliniques et génétiques

scientific article published on 01 February 2008

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

artículo científico publicado en 2014

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

article published in 2015

Everolimus and Octreotide for Patients with Recurrent Meningioma: Results from the Phase II CEVOREM Trial

scientific article published on 22 January 2020

Expression of aryl hydrocarbon receptor (AHR) and AHR-interacting protein in pituitary adenomas: pathological and clinical implications.

artículo científico publicado en 2009

Expression of functional growth hormone secretagogue receptors in human pituitary adenomas: polymerase chain reaction, triple in-situ hybridization and cell culture studies

artículo científico publicado en 1999

Expression of somatostatin receptors, dopamine D₂ receptors, noradrenaline transporters, and vesicular monoamine transporters in 52 pheochromocytomas and paragangliomas.

artículo científico publicado en 2011

First report of bilateral pheochromocytoma in the clinical spectrum of HIF2A-related polycythemia-paraganglioma syndrome.

artículo científico publicado en 2013

First report of harlequin syndrome as the presenting feature of Carney Triad: a diagnostic and imaging challenge

artículo científico publicado en 2012

Frequent Large GermlineHRPT2Deletions in a French National Cohort of Patients With Primary Hyperparathyroidism

article

Functional characterization of nonmetastatic paraganglioma and pheochromocytoma by 18F‐FDOPA PET: focus on missed lesions ⬇️

artículo científico publicado el 6 de mayo de 2013

GHRH excess and blockade in X-LAG syndrome.

artículo científico publicado en 2015

Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis.

artículo científico publicado en 2013

Genetic causes of combined pituitary hormone deficiencies in humans ⬇️

artículo científico publicado el 21 de abril de 2012

Genetic screening of combined pituitary hormone deficiency: experience in 195 patients

artículo científico publicado en 2006

Ghrelin receptor (GHS-R1a) and its constitutive activity in somatotroph adenomas: a new co-targeting therapy using GHS-R1a inverse agonists and somatostatin analogs.

artículo científico publicado en 2014

Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation

artículo científico publicado en 2014

Gs alpha overexpression and loss of Gs alpha imprinting in human somatotroph adenomas: association with tumor size and response to pharmacologic treatment

artículo científico publicado en 2007

Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort

artículo científico publicado en 2014

Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency

artículo científico publicado en 2018

High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas.

artículo científico publicado en 2011

Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d’étude des Tumeurs Endocrines (GTE) cohort study

artículo científico publicado en 2013

Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue

artículo científico publicado en 2015

In vivo and in vitro evidence of somatostatin receptors expression in a dedifferentiated retroperitoneal liposarcoma

article

Lentiviral vectors efficiently transduce human gonadotroph and somatotroph adenomas in vitro. Targeted expression of transgene by pituitary hormone promoters

artículo científico publicado en 2004

Lessons from monogenic causes of growth hormone deficiency

artículo científico publicado en 2017

Long-term control of a MEN1 prolactin secreting pituitary carcinoma after temozolomide treatment

artículo científico publicado en 2012

Looking beyond the thyroid: advances in the understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms.

artículo científico publicado en 2017

MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency

artículo científico publicado en 2016

McCune-Albright syndrome: a detailed pathological and genetic analysis of disease effects in an adult patient

artículo científico publicado en 2014

Medical therapies in pituitary adenomas: Current rationale for the use and future perspectives

artículo científico publicado en 2014

Mutations in theAryl Hydrocarbon Receptor Interacting ProteinGene Are Not Highly Prevalent among Subjects with Sporadic Pituitary Adenomas

article

Mécanismes de tumorigenèse hypophysaire

artículo científico publicado en 2008

Neuroendocrine tumors: insights into innovative therapeutic options and rational development of targeted therapies.

artículo científico

PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption.

artículo científico publicado en 2012

Pasireotide and octreotide antiproliferative effects and sst2 trafficking in human pancreatic neuroendocrine tumor cultures

article

Phenotypic Homogeneity and Genotypic Variability in a Large Series of Congenital Isolated ACTH-Deficiency Patients withTPITGene Mutations

article

Physiopathology of somatolactotroph cells: from transduction mechanisms to cotargeting therapy.

scientific article published on March 2011

Pit-1 gene expression in human lactotroph and somatotroph pituitary adenomas is correlated to D2 receptor gene expression

artículo científico publicado en 1996

Pit-1 gene expression in the human pituitary and pituitary adenomas

artículo científico publicado en 1994

Pituitary hormone deficiencies due to transcription factor gene alterations.

artículo científico publicado en 2004

Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms.

artículo científico publicado en 2011

Preoperative 18F-FDG Uptake is Strongly Correlated with Malignancy, Weiss Score, and Molecular Markers of Aggressiveness in Adrenal Cortical Tumors

artículo científico publicado en 2012

Primary hyperparathyroidism as first manifestation in MEN 2A: an international multicenter study

artículo científico publicado en 2020

Pronostic and therapeutic consequences of Gs alpha mutations in somatotroph adenomas

artículo científico publicado en 1998

Prospective comparison of (68)Ga-DOTATATE and (18)F-FDOPA PET/CT in patients with various pheochromocytomas and paragangliomas with emphasis on sporadic cases

artículo científico publicado en 2015

Quelles causes génétiques rechercher en présence d’un déficit en hormone de croissance ?

scientific article published on 15 April 2011

RET gene mutations are not involved in the origin of human testicular seminoma

artículo científico publicado en 2010

Relevance of coexpression of somatostatin and dopamine D2 receptors in pituitary adenomas.

artículo científico publicado en 2007

Should routine analysis of the MEN1 gene be performed in all patients with primary hyperparathyroidism under 40 years of age?

artículo científico publicado en 2010

Signalling pathway alterations in pituitary adenomas: involvement of Gsalpha, cAMP and mitogen-activated protein kinases.

artículo científico publicado en 2009

Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b.

artículo científico publicado en 2013

Sinonasal paraganglioma with long-delayed recurrence and metastases: genetic and imaging findings

artículo científico publicado en 2013

Somatic gain-of-function HIF2A mutations in sporadic central nervous system hemangioblastomas

artículo científico publicado en 2015

Somatostatin analogues increase AIP expression in somatotropinomas, irrespective of Gsp mutations.

artículo científico publicado en 2013

Somatostatin receptor sst2 decreases cell viability and hormonal hypersecretion and reverses octreotide resistance of human pituitary adenomas

artículo científico publicado en 2008

Somatostatin receptor sst2 gene transfer in human prolactinomas in vitro: Impact on sensitivity to dopamine, somatostatin and dopastatin, in the control of prolactin secretion

article

Somatostatinergic ligands in dopamine-sensitive and -resistant prolactinomas

artículo científico publicado en 2008

Targeting Dopamine Receptors Subtype 2 (D2DR) in Pheochromocytomas: Head-to-Head Comparison Between In Vitro and In Vivo Findings

scientific article published on 05 September 2013

The analysis of quantitative expression of somatostatin and dopamine receptors in gastro-entero-pancreatic tumours opens new therapeutic strategies

artículo científico publicado en 2006

The gsp oncogene disrupts Ras/ERK-dependent prolactin gene regulation in gsp inducible somatotroph cell line.

artículo científico publicado en 2011

The role of 18F-FDOPA and 18F-FDG-PET in the management of malignant and multifocal phaeochromocytomas

artículo científico publicado en 2008

The significance of MEN1 mutations in pituitary carcinomas.

artículo científico publicado en 2013

Une cause de calcifications intracérébrales à connaître : la pseudohypoparathyroïdie de type Ib

artículo científico publicado en 2008

Unilateral agenesis of internal carotid artery associated with congenital combined pituitary hormone deficiency and pituitary stalk interruption without HESX1, LHX4 or OTX2 mutation: a case report.

artículo científico publicado en 2012

Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study

artículo científico publicado en 2015

Unusual presentation of multiple endocrine neoplasia type 2A in a patient with the C634R mutation of the RET-protooncogene

artículo científico publicado en 2008

Lista de obras de Anne Barlier

18F-FDG avidity of pheochromocytomas and paragangliomas: a new molecular imaging signature?

A Familial Form of Congenital Hypopituitarism Due to aPROP1Mutation in a Large Kindred: Phenotypic andin VitroFunctional Studies

A MEN1 syndrome with a paraganglioma.

A Neonatal Form of Isolated ACTH Deficiency Frequently Associated with Tpit Gene Mutations

A Novel Dysfunctional LHX4 Mutation with High Phenotypical Variability in Patients with Hypopituitarism

A genome-wide approach reveals novel imprinted genes expressed in the human placenta

A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency

A new specific succinate-glutamate metabolomic hallmark in SDHx-related paragangliomas

A potential inhibitory role for the new truncated variant of somatostatin receptor 5, sst5TMD4, in pituitary adenomas poorly responsive to somatostatin analogs

Absence of IDH mutation identifies a novel radiologic and molecular subtype of WHO grade II gliomas with dismal prognosis

An Uncommon Phenotype with Familial Central Hypogonadism Caused by a NovelPROP1Gene Mutant Truncated in the Transactivation Domain

Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families.

Case Report of GNAS Epigenetic Defect Revealed by a Congenital Hypothyroidism

Case seminar: a young female with acute hyponatremia and a sellar mass

Cervical paragangliomas: is SDH genetic analysis systematically required?

Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients.

Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study

Combined pituitary hormone deficiency: current and future status

Combined treatment by octreotide and everolimus: Octreotide enhances inhibitory effect of everolimus in aggressive meningiomas

Combining Cadherin Expression with Molecular Markers Discriminates Invasiveness in Growth Hormone and Prolactin Pituitary Adenomas.

Comparison of [111In]pentetreotide-SPECT and [18F]FDOPA-PET in the localization of extra-adrenal paragangliomas: the case for a patient-tailored use of nuclear imaging modalities

Conditional overexpression of the wild-type Gs alpha as the gsp oncogene initiates chronic extracellularly regulated kinase 1/2 activation and hormone hypersecretion in pituitary cell lines

Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause of Neonatal Death, Explained byTPITGene Mutations

Congenital pituitary hormone deficiencies: role ofLHX3/LHX4genes

Deficit in anterior pituitary function and variable immune deficiency (DAVID) in children presenting with adrenocorticotropin deficiency and severe infections.

Demonstration of enhanced potency of a chimeric somatostatin-dopamine molecule, BIM-23A387, in suppressing growth hormone and prolactin secretion from human pituitary somatotroph adenoma cells.

Detection of genetic hypopituitarism in an adult population of idiopathic pituitary insufficiency patients with growth hormone deficiency.

Dose-dependent dual role of PIT-1 (POU1F1) in somatolactotroph cell proliferation and apoptosis

Déficit hypophysaire combiné multiple : aspects cliniques et génétiques

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

Everolimus and Octreotide for Patients with Recurrent Meningioma: Results from the Phase II CEVOREM Trial

Expression of aryl hydrocarbon receptor (AHR) and AHR-interacting protein in pituitary adenomas: pathological and clinical implications.

Expression of functional growth hormone secretagogue receptors in human pituitary adenomas: polymerase chain reaction, triple in-situ hybridization and cell culture studies

Expression of somatostatin receptors, dopamine D₂ receptors, noradrenaline transporters, and vesicular monoamine transporters in 52 pheochromocytomas and paragangliomas.

First report of bilateral pheochromocytoma in the clinical spectrum of HIF2A-related polycythemia-paraganglioma syndrome.

First report of harlequin syndrome as the presenting feature of Carney Triad: a diagnostic and imaging challenge

Frequent Large GermlineHRPT2Deletions in a French National Cohort of Patients With Primary Hyperparathyroidism

Functional characterization of nonmetastatic paraganglioma and pheochromocytoma by 18F‐FDOPA PET: focus on missed lesions ⬇️

GHRH excess and blockade in X-LAG syndrome.

Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis.

Genetic causes of combined pituitary hormone deficiencies in humans ⬇️

Genetic screening of combined pituitary hormone deficiency: experience in 195 patients

Ghrelin receptor (GHS-R1a) and its constitutive activity in somatotroph adenomas: a new co-targeting therapy using GHS-R1a inverse agonists and somatostatin analogs.

Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation

Gs alpha overexpression and loss of Gs alpha imprinting in human somatotroph adenomas: association with tumor size and response to pharmacologic treatment

Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort

Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency

High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas.

Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d’étude des Tumeurs Endocrines (GTE) cohort study

Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue

In vivo and in vitro evidence of somatostatin receptors expression in a dedifferentiated retroperitoneal liposarcoma

Lentiviral vectors efficiently transduce human gonadotroph and somatotroph adenomas in vitro. Targeted expression of transgene by pituitary hormone promoters

Lessons from monogenic causes of growth hormone deficiency

Long-term control of a MEN1 prolactin secreting pituitary carcinoma after temozolomide treatment

Looking beyond the thyroid: advances in the understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms.

MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency

McCune-Albright syndrome: a detailed pathological and genetic analysis of disease effects in an adult patient

Medical therapies in pituitary adenomas: Current rationale for the use and future perspectives

Mutations in theAryl Hydrocarbon Receptor Interacting ProteinGene Are Not Highly Prevalent among Subjects with Sporadic Pituitary Adenomas

Mécanismes de tumorigenèse hypophysaire

Neuroendocrine tumors: insights into innovative therapeutic options and rational development of targeted therapies.

PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption.

Pasireotide and octreotide antiproliferative effects and sst2 trafficking in human pancreatic neuroendocrine tumor cultures

Phenotypic Homogeneity and Genotypic Variability in a Large Series of Congenital Isolated ACTH-Deficiency Patients withTPITGene Mutations

Physiopathology of somatolactotroph cells: from transduction mechanisms to cotargeting therapy.

Pit-1 gene expression in human lactotroph and somatotroph pituitary adenomas is correlated to D2 receptor gene expression

Pit-1 gene expression in the human pituitary and pituitary adenomas

Pituitary hormone deficiencies due to transcription factor gene alterations.

Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms.

Preoperative 18F-FDG Uptake is Strongly Correlated with Malignancy, Weiss Score, and Molecular Markers of Aggressiveness in Adrenal Cortical Tumors

Primary hyperparathyroidism as first manifestation in MEN 2A: an international multicenter study

Pronostic and therapeutic consequences of Gs alpha mutations in somatotroph adenomas

Prospective comparison of (68)Ga-DOTATATE and (18)F-FDOPA PET/CT in patients with various pheochromocytomas and paragangliomas with emphasis on sporadic cases

Quelles causes génétiques rechercher en présence d’un déficit en hormone de croissance ?

RET gene mutations are not involved in the origin of human testicular seminoma

Relevance of coexpression of somatostatin and dopamine D2 receptors in pituitary adenomas.

Should routine analysis of the MEN1 gene be performed in all patients with primary hyperparathyroidism under 40 years of age?

Signalling pathway alterations in pituitary adenomas: involvement of Gsalpha, cAMP and mitogen-activated protein kinases.