(Q57817523)

Judith Favier

13

0 references

Laurence Amar

Laurence Amar

Anne-Paule Gimenez-Roqueplo

3

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Anne-Paule Gimenez-Roqueplo

14

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Xavier Jeunemaitre

12

Xavier Jeunemaitre

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author name string

Nelly Burnichon

1

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Laure Vescovo

2

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Aurélien de Reynies

5

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Annabelle Venisse

6

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Elodie Jouanno

7

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Ingrid Laurendeau

8

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Béatrice Parfait

9

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Jérôme Bertherat

10

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Pierre-François Plouin

Recent advances in the genetics of phaeochromocytoma and functional paraganglioma

11

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publication date

22 July 2011

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published in

Human Molecular Genetics

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volume

20

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issue

20

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page(s)

3974-3985

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Genetic testing in pheochromocytoma or functional paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

SDHA is a tumor suppressor gene causing paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Distinct gene expression profiles in norepinephrine- and epinephrine-producing hereditary and sporadic pheochromocytomas: activation of hypoxia-driven angiogenic pathways in von Hippel-Lindau syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Research resource: Transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

The Warburg effect is genetically determined in inherited pheochromocytomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Role of VHL gene mutation in human cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Interstitial uniparental isodisomy at clustered breakpoint intervals is a frequent mechanism of NF1 inactivation in myeloid malignancies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Catecholamine metabolomic and secretory phenotypes in phaeochromocytoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Measurements of plasma methoxytyramine, normetanephrine, and metanephrine as discriminators of different hereditary forms of pheochromocytoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

A matrix metalloproteinase expressed on the surface of invasive tumour cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

A gene expression signature predicts survival of patients with stage I non-small cell lung cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Transcriptome analysis reveals that p53 and {beta}-catenin alterations occur in a group of aggressive adrenocortical cancers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Overexpression of LAPTM4B-35 promotes growth and metastasis of hepatocellular carcinoma in vitro and in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

LAPTM4B overexpression is a novel predictor of epithelial ovarian carcinoma metastasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Methylation of Tip30 promoter is associated with poor prognosis in human hepatocellular carcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Decreased TIP30 expression promotes tumor metastasis in lung cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Recent insights into the molecular pathogenesis of pheochromocytoma and paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Prognostic and predictive value of common mutations for treatment response and survival in patients with metastatic colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Phosphoinositide-3-kinase catalytic alpha and KRAS mutations are important predictors of resistance to therapy with epidermal growth factor receptor tyrosine kinase inhibitors in patients with advanced non-small cell lung cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

A novel TMEM127 mutation in a patient with familial bilateral pheochromocytoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Bioconductor: open software development for computational biology and bioinformatics

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Normalization for cDNA microarray data: a robust composite method addressing single and multiple slide systematic variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Analysis of array CGH data: from signal ratio to gain and loss of DNA regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

A global test for groups of genes: testing association with a clinical outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Detection and characterization of NF1 microdeletions by custom high resolution array CGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324

Cloning and expression pattern of EPAS1 in the chicken embryo. Colocalization with tyrosine hydroxylase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR324