(Q56697959)

2

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Martin Bäckdahl

3

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Niyaz Hareni

4

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Tobias Sivlér

5

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Michael Brauckhoff

6

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Peter Söderkvist

7

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Oliver Gimm

Pheochromocytoma: an update on genetics and management

8

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publication date

24 September 2012

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published in

Human Molecular Genetics

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volume

21

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issue

26

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page(s)

5406-5416

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cites work

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas

21 January 2018

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Malignant pheochromocytomas and paragangliomas: a diagnostic challenge

21 January 2018

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A genetic model for colorectal tumorigenesis

21 January 2018

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Mutations and polymorphisms in the SDHB, SDHD, VHL, and RET genes in sporadic and familial pheochromocytomas

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

Somatic mutation analysis of the SDHB, SDHC, SDHD, and RET genes in the clinical assessment of sporadic and hereditary pheochromocytoma.

21 January 2018

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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

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A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

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

21 January 2018

1 reference

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A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors

21 January 2018

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Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

Catecholamine metabolomic and secretory phenotypes in phaeochromocytoma

21 January 2018

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21 January 2018

Neurofibromatosis type 1

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A method and server for predicting damaging missense mutations

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

G12S and H50R variations are polymorphisms in the SDHD gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

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

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

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

21 January 2018

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Recurrent genomic alterations in benign and malignant pheochromocytomas and paragangliomas revealed by whole-genome array comparative genomic hybridization analysis.

21 January 2018

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A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition.

21 January 2018

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The nonsense-mediated decay RNA surveillance pathway

21 January 2018

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A haplotype map of the human genome

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

Biochemical diagnosis of pheochromocytoma: which test is best?

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

Hereditary cancer: two hits revisited

21 January 2018

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21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

Comprehensive genomic characterization defines human glioblastoma genes and core pathways

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

Somatic mutations affect key pathways in lung adenocarcinoma

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

Integrated genomic analyses of ovarian carcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

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%2FDDS402

Analyzing real-time PCR data by the comparative C(T) method

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

21 January 2018

The BiSearch web server

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

Alternative splicing of the neurofibromatosis type I pre-mRNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

MethPrimer: designing primers for methylation PCRs

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS402

Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS402