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Pheochromocytoma and Paraganglioma

The New England journal of medicine, 2019-08, Vol.381 (6), p.552-565

2019

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Evidence of MEN-2 in the Original Description of Classic Pheochromocytoma

The New England journal of medicine, 2007-09, Vol.357 (13), p.1311-1315

2007

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Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease

Human mutation, 2005-04, Vol.25 (4), p.412-412

2005

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Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients

Human mutation, 2009-05, Vol.30 (5), p.776-786

2009

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Clinical and Genetic Characteristics of Patients with Neurofibromatosis Type 1 and Pheochromocytoma

The New England journal of medicine, 2006-06, Vol.354 (25), p.2729-2731

2006

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Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany

Nephrology, dialysis, transplantation, 2013-06, Vol.28 (6), p.1472-1487

2013

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Renal cancer in von Hippel-Lindau disease and related syndromes

Nature reviews. Nephrology, 2013-09, Vol.9 (9), p.529-538

2013

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Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC

Nature genetics, 1994-01, Vol.6 (1), p.70-74

1994

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Early-Onset Renal Cell Carcinoma as a Novel Extraparaganglial Component of SDHB-Associated Heritable Paraganglioma

American journal of human genetics, 2004-01, Vol.74 (1), p.153-159

2004

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Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome

The Journal of clinical investigation, 2003-04, Vol.111 (8), p.1181-1190

2003

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Profiling of Somatic Mutations in Phaeochromocytoma and Paraganglioma by Targeted Next Generation Sequencing Analysis

International Journal of Endocrinology, 2015-01, Vol.2015 (2015), p.36-43-004

2015

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Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia

Journal of the American Society of Nephrology, 2006-09, Vol.17 (9), p.2424-2433

2006

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Integrative genetic, epigenetic and pathological analysis of paraganglioma reveals complex dysregulation of NOTCH signaling

Acta neuropathologica, 2013-10, Vol.126 (4), p.575-594

2013

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Multiple endocrine neoplasia type 2

Baillière's best practice & research. Clinical endocrinology & metabolism, 2010-06, Vol.24 (3), p.371-387

2010

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Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation

Nature clinical practice. Endocrinology & metabolism, 2008-02, Vol.4 (2), p.111-115

2008

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Maternal Transmission of Symptomatic Disease with SDHD Mutation: Fact or Fiction?

The journal of clinical endocrinology and metabolism, 2008-05, Vol.93 (5), p.1573-1575

2008

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Autosomal Dominant Polycystic Kidney Disease: Prevalence of Renal Neoplasias in Surgical Kidney Specimens

Nephron, 2013-01, Vol.123 (1-2), p.13-21

2013

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Hemangioblastomas and Neurogenic Polyglobulia

Neurosurgery, 2013-06, Vol.72 (6), p.930-935

2013

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Co-Inheritance of Autosomal Dominant Polycystic Kidney Disease and Naevoid Basal Cell Carcinoma Syndrome: Effects on Renal Progression

Nephron (2015), 2018-01, Vol.140 (4), p.282-288

2018

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von Hippel-Lindau disease: A clinical and scientific review

European journal of human genetics : EJHG, 2011-06, Vol.19 (6), p.617-623

2011

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Chromogranin A as potential target for immunotherapy of malignant pheochromocytoma

Molecular and cellular endocrinology, 2011-03, Vol.335 (1), p.69-77

2011

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Endoscopic Treatment of Solitary, Bilateral, Multiple, and Recurrent Pheochromocytomas and Paragangliomas

World journal of surgery, 2002-08, Vol.26 (8), p.1005-1012

2002

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Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains

Kidney international, 2003-11, Vol.64 (5), p.1580-1587

2003

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New genetic causes of pheochromocytoma: current concepts and the clinical relevance

The Keio Journal of Medicine, 2005, Vol.54(1), pp.15-21

2005

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Associations of Collagen Type I α2 Polymorphisms with the Presence of Intracranial Aneurysms in Patients from Germany

Journal of stroke and cerebrovascular diseases, 2014-02, Vol.23 (2), p.356-360

2014

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Pheochromocytoma and Paraganglioma

Evidence of MEN-2 in the Original Description of Classic Pheochromocytoma

Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease

Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients

Clinical and Genetic Characteristics of Patients with Neurofibromatosis Type 1 and Pheochromocytoma

Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany

Renal cancer in von Hippel-Lindau disease and related syndromes

Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC

Early-Onset Renal Cell Carcinoma as a Novel Extraparaganglial Component of SDHB-Associated Heritable Paraganglioma

Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome

Profiling of Somatic Mutations in Phaeochromocytoma and Paraganglioma by Targeted Next Generation Sequencing Analysis

Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia

Integrative genetic, epigenetic and pathological analysis of paraganglioma reveals complex dysregulation of NOTCH signaling

Multiple endocrine neoplasia type 2

Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation

Maternal Transmission of Symptomatic Disease with SDHD Mutation: Fact or Fiction?

Autosomal Dominant Polycystic Kidney Disease: Prevalence of Renal Neoplasias in Surgical Kidney Specimens

Hemangioblastomas and Neurogenic Polyglobulia

Co-Inheritance of Autosomal Dominant Polycystic Kidney Disease and Naevoid Basal Cell Carcinoma Syndrome: Effects on Renal Progression

von Hippel-Lindau disease: A clinical and scientific review

Chromogranin A as potential target for immunotherapy of malignant pheochromocytoma

Endoscopic Treatment of Solitary, Bilateral, Multiple, and Recurrent Pheochromocytomas and Paragangliomas

Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains

New genetic causes of pheochromocytoma: current concepts and the clinical relevance

Associations of Collagen Type I α2 Polymorphisms with the Presence of Intracranial Aneurysms in Patients from Germany

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