List of works by Anne-Paule Gimenez-Roqueplo

68Ga-DOTATATE PET/CT Versus MRI: Why the Comparison of 68Ga-DOTATATE PET/CT to an Appropriate MRI Protocol Is Essential

scientific article published on 21 July 2016

A 40-YEAR FOLLOW-UP OF A PATIENT WITH MULTIPLE PARAGANGLIOMAS AND A SDHD MUTATION

scientific article published on 01 April 2019

A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL

scientific article published on 04 October 2016

A call to action and a lifecourse strategy to address the global burden of raised blood pressure on current and future generations: the Lancet Commission on hypertension

scientific article

A germline mutation in PBRM1 predisposes to renal cell carcinoma

scientific article

Adrenal tumors: when to search for a germline abnormality?

scientific article published on 01 May 2019

Alpha1-antitrypsin gene polymorphisms are not associated with renal arterial fibromuscular dysplasia

scientific article published on 01 April 2006

An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis

scientific article

An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes.

scientific article published on 10 February 2012

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

scientific article published on 23 January 2007

Carbonic anhydrase 9 immunohistochemistry as a tool to predict or validate germline and somatic VHL mutations in pheochromocytoma and paraganglioma-a retrospective and prospective study

scientific article published on 05 August 2019

Changes in Urinary Total Metanephrine Excretion in Recurrent and Malignant Pheochromocytomas and Secreting Paragangliomas

scientific article published on 01 August 2006

Characterization of a human angiotensinogen cleaved in its reactive center loop by a proteolytic activity from Chinese hamster ovary cells

scientific article published on 01 April 2000

Chemoresistant pleomorphic rhabdomyosarcoma: whole exome sequencing reveals underlying cancer predisposition and therapeutic options

article

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.

scientific article

Clinical aspects of SDHx-related pheochromocytoma and paraganglioma

scientific article

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

scientific article published on 4 August 2010

Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

scientific article published on 29 November 2005

Comprehensive Analysis of Alternative Splicing Across Tumors from 8,705 Patients

article

Comprehensive Characterization of Cancer Driver Genes and Mutations

article

Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma

scientific article

Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas

scientific article published on 18 November 2016

DNA Methylation Profiling in Pheochromocytoma and Paraganglioma Reveals Diagnostic and Prognostic Markers

scientific article published on 30 March 2015

Deciphering the molecular basis of invasiveness in Sdhb-deficient cells

scientific article published on 8 October 2015

Development of novel tools for the diagnosis and prognosis of pheochromocytoma using peptide marker immunoassay and gene expression profiling approaches

scientific article published on 01 August 2006

Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia

scientific article published on 20 September 2011

Emerging molecular markers of metastatic pheochromocytomas and paragangliomas

scientific article published on 11 April 2019

Epithelial to mesenchymal transition is activated in metastatic pheochromocytomas and paragangliomas caused by SDHB gene mutations.

scientific article published on 4 April 2012

Evaluation of a standardized protocol for processing adrenal tumor samples: preparation for a European adrenal tumor bank.

scientific article

Evolutionarily conserved susceptibility of the mitochondrial respiratory chain to SDHI pesticides and its consequence on the impact of SDHIs on human cultured cells

scientific article published on 07 November 2019

Fibromuscular dysplasia

scientific article published on 07 June 2007

From Nf1 to Sdhb knockout: Successes and failures in the quest for animal models of pheochromocytoma.

scientific article published on 26 June 2015

Functional and in silico assessment of MAX variants of unknown significance

scientific article

Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis

scientific article published on 4 November 2014

Genetic testing in pheochromocytoma or functional paraganglioma

scientific article published in December 2005

Genetics of pheochromocytoma and paraganglioma in Spanish patients.

scientific article

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

scientific article published on 01 July 2007

Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas

scientific article published on 13 December 2013

Germline mutations in the mitochondrial 2-oxoglutarate/malate carrier SLC25A11 gene confer a predisposition to metastatic paragangliomas.

scientific article published on 5 February 2018

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations

article

Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency

scientific article

Identification of a newVHLexon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

scientific article published on 11 June 2018

Identification of potential gene markers and insights into the pathophysiology of pheochromocytoma malignancy

scientific article published on 18 September 2007

Identity by descent mapping of founder mutations in cancer using high-resolution tumor SNP data

scientific article

Imaging work-up for screening of paraganglioma and pheochromocytoma in SDHx mutation carriers: a multicenter prospective study from the PGL.EVA Investigators.

scientific article published on 15 November 2012

In Vivo Detection of Succinate by Magnetic Resonance Spectroscopy as a Hallmark of SDHx Mutations in Paraganglioma

scientific article published on 21 October 2015

Inactivation of the APC gene is constant in adrenocortical tumors from patients with familial adenomatous polyposis but not frequent in sporadic adrenocortical cancers.

scientific article published on 26 October 2010

Initial work-up and long-term follow-up in patients with phaeochromocytomas and paragangliomas.

scientific article published on September 2006

Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma

article

Integrative multi-omics analysis identifies a prognostic miRNA signature and a targetable miR-21-3p/TSC2/mTOR axis in metastatic pheochromocytoma/paraganglioma

scientific article published on 09 July 2019

Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas.

scientific article

Long-term postoperative follow-up in patients with apparently benign pheochromocytoma and paraganglioma.

scientific article published on 20 February 2012

Loss of succinate dehydrogenase activity results in dependency on pyruvate carboxylation for cellular anabolism

scientific article

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

scientific article published on 27 March 2012

MET alterations in biphasic squamoid alveolar papillary renal cell carcinomas and clinicopathological features

scientific article published on 07 August 2020

Malignant head/neck paragangliomas. Comparative study.

scientific article published on 14 November 2013

Metastatic pheochromocytoma/paraganglioma related to primary tumor development in childhood or adolescence: significant link to SDHB mutations

scientific article published on 3 October 2011

Mitochondrial Deficiencies in the Predisposition to Paraganglioma

scientific article

Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions

scientific article

Mosaicism in HIF2A-related polycythemia-paraganglioma syndrome.

scientific article

Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas

scientific article

Mutations associated with succinate dehydrogenase D-related malignant paragangliomas

scientific article published on 31 October 2007

Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers

scientific article published on 25 September 2017

New advances in the genetics of pheochromocytoma and paraganglioma syndromes.

scientific article published on August 2006

Oncogenic features of the bone morphogenic protein 7 (BMP7) in pheochromocytoma.

scientific article published on 18 August 2015

Oncometabolites-driven tumorigenesis: From genetics to targeted therapy

scientific article

One-Year Progression-Free Survival of Therapy-Naive Patients With Malignant Pheochromocytoma and Paraganglioma

scientific article published on 24 July 2013

PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance.

scientific article

Paraganglioma and phaeochromocytoma: from genetics to personalized medicine

scientific article

Penetrance and clinical consequences of a gross SDHB deletion in a large family ⬇️

scientific article

Peritoneal Implantation of Pheochromocytoma Following Tumor Capsule Rupture During Surgery

Phaeochromocytoma, new genes and screening strategies.

scientific article published in December 2006

Pheochromocytoma and Paraganglioma: progress on all fronts

scientific article published on 01 March 2012

Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline

scientific article published in June 2014

Pheochromocytoma and paraganglioma: molecular testing and personalized medicine

scientific article

Pheochromocytoma: When to search a germline defect?

scientific article published on 01 July 2018

Pheochromocytomas and secreting paragangliomas

scientific article

Pheochromocytomas: the (pseudo)-hypoxia hypothesis.

scientific article

Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and/or Pheochromocytoma

scientific article published on 01 April 2019

Presymptomatic genetic testing in minors at risk of paraganglioma and pheochromocytoma: our experience of oncogenetic multidisciplinary consultation

scientific article published on 19 April 2012

Prognosis of Malignant Pheochromocytoma and Paraganglioma (MAPP-Prono Study): A European Network for the Study of Adrenal Tumors Retrospective Study

scientific article published on 01 June 2019

Psychological aspects of genetic diagnosis of endocrine tumors

scientific article published in June 2005

Rapid determination of tricarboxylic acid cycle enzyme activities in biological samples

scientific article

Rationale for anti-angiogenic therapy in pheochromocytoma and paraganglioma.

scientific article

Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers

scientific article published on 16 March 2017

Recent advances in the genetics of phaeochromocytoma and functional paraganglioma

scientific article

Relative expression of the RET9 and RET51 isoforms in human pheochromocytomas

scientific article published on 01 May 2000

Rethinking pheochromocytomas and paragangliomas from a genomic perspective.

scientific article published on June 2015

Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study

scientific article

Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma

scientific article published on 17 November 2016

Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients

scientific article published on 16 July 2018

Role of cysteine residues in human angiotensinogen. Cys232 is required for angiotensinogen-pro major basic protein complex formation

scientific article published on 01 December 1998

SDH mutations establish a hypermethylator phenotype in paraganglioma.

scientific article published on 23 May 2013

SDHA Immunohistochemistry Detects GermlineSDHAGene Mutations in Apparently Sporadic Paragangliomas and Pheochromocytomas

scientific article published on 13 July 2011

SDHA is a tumor suppressor gene causing paraganglioma

scientific article

SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).

scientific article published on 27 February 2015

SDHBmutations are associated with response to temozolomide in patients with metastatic pheochromocytoma or paraganglioma

article

SDHD Immunohistochemistry: A New Tool to ValidateSDHxMutations in Pheochromocytoma/Paraganglioma

scientific article published on 18 November 2014

Screening in asymptomatic SDHx mutation carriers: added value of ¹⁸F-FDG PET/CT at initial diagnosis and 1-year follow-up

scientific article published on 13 February 2015

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

article

Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.

scientific article

Spectrum of mutations in Gitelman syndrome

scientific article

Stent treatment for pseudocoarctation and refractory hypertension in an elderly patient with Takayasu's arteritis

scientific article published on 01 April 2000

Successful response to pegylated interferon alpha in a patient with recurrent paraganglioma

scientific article published on 28 November 2016

Succinate Dehydrogenase B Gene Mutations Predict Survival in Patients with Malignant Pheochromocytomas or Paragangliomas

article

Succinate detection using in vivo 1H-MR spectroscopy identifies germline and somatic SDHx mutations in paragangliomas

scientific article published on 13 December 2019

TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma

scientific article published on 14 March 2012

Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma

scientific article published on 15 March 2019

Telomerase activation and ATRX mutations are independent risk factors for metastatic pheochromocytoma and paraganglioma

scientific article published on 09 October 2018

The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma

article

The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma

scientific article published on 28 September 2016

The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway

scientific article

The Warburg effect is genetically determined in inherited pheochromocytomas

scientific article

The genetic basis of pheochromocytoma: who to screen and how?

scientific article published on 01 February 2006

The genetics of paragangliomas.

scientific article published on 15 October 2012

The mTORC1 Complex Is Significantly Overactivated in SDHX-Mutated Paragangliomas.

scientific article published on 26 January 2017

The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

scientific article

The value of a rapid contrast-enhanced angio-MRI protocol in the detection of head and neck paragangliomas in SDHx mutations carriers: a retrospective study on behalf of the PGL.EVA investigators.

scientific article

Transcriptome Analysis of lncRNAs in Pheochromocytomas and Paragangliomas

scientific article published on 01 March 2020

Tricarboxylic acid cycle dysfunction as a cause of human diseases and tumor formation.

scientific article published on 7 June 2006

Unsuspected task for an old team: succinate, fumarate and other Krebs cycle acids in metabolic remodeling

scientific article published on 31 March 2014

Usefulness of FDG-PET/CT-Based Radiomics for the Characterization and Genetic Orientation of Pheochromocytomas Before Surgery

scientific article published on 26 August 2020

Vascular endothelial growth factor-A is associated with chronic mountain sickness in the Andean population.

scientific article

Vascular pattern analysis for the prediction of clinical behaviour in pheochromocytomas and paragangliomas

scientific article

Vemurafenib and cobimetinib overcome resistance to vemurafenib in BRAF-mutant ganglioglioma

scientific article published on 17 August 2018

Year of diagnosis, features at presentation, and risk of recurrence in patients with pheochromocytoma or secreting paraganglioma

scientific article published on 11 January 2005

[Genetics of paragangliomas and pheochromocytomas].

scientific article published in June 2012

[Malignant hereditary paraganglioma: problems raised by non-functional forms management]

scientific article published on 19 June 2006

[Phaeochromocytoma and paraganglioma]

scientific article published on 04 September 2019

[Recent progress in the diagnosis, prognostic evaluation and treatment of pheochromocytomas]

scientific article published on 01 December 2000

[Vascular Ehlers-Danlos syndrome].

scientific article published in December 2006

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