Pathogenicity of DNA Variants and Double Mutations in Multiple Endocrine Neoplasia Type 2 and Von Hippel-Lindau Syndrome

Zoran Erlic, Michael M. Hoffmann, Maren Sullivan, Gerlind Franke, Mariola Peczkowska, Igor Harsch, Matthias Schott, Helmut E. Gabbert, Matti Välimäki, Simon F. Preuss, Kornelia Hasse-Lazar, Dariusz Waligorski, Mercedes Robledo, Andrzej Januszewicz, Charis Eng, Hartmut P. H. Neumann

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

Originalspråkengelska
TidskriftJournal of Clinical Endocrinology and Metabolism
Volym95
Sidor (från-till)308-313
Antal sidor6
ISSN0021-972X
DOI
StatusPublicerad - 2010
MoE-publikationstypA1 Tidskriftsartikel-refererad

Vetenskapsgrenar

  • 312 Klinisk medicin

Citera det här

Erlic, Zoran ; Hoffmann, Michael M. ; Sullivan, Maren ; Franke, Gerlind ; Peczkowska, Mariola ; Harsch, Igor ; Schott, Matthias ; Gabbert, Helmut E. ; Välimäki, Matti ; Preuss, Simon F. ; Hasse-Lazar, Kornelia ; Waligorski, Dariusz ; Robledo, Mercedes ; Januszewicz, Andrzej ; Eng, Charis ; Neumann, Hartmut P. H. / Pathogenicity of DNA Variants and Double Mutations in Multiple Endocrine Neoplasia Type 2 and Von Hippel-Lindau Syndrome. I: Journal of Clinical Endocrinology and Metabolism. 2010 ; Vol. 95. s. 308-313.
@article{5720bed99e154e098d9222b1210c6b89,
title = "Pathogenicity of DNA Variants and Double Mutations in Multiple Endocrine Neoplasia Type 2 and Von Hippel-Lindau Syndrome",
keywords = "RET PROTOONCOGENE MUTATIONS, MEDULLARY-THYROID CARCINOMA, C-CELL HYPERPLASIA, AFFECTING CODON-790/791, MILD FORM, CALCITONIN, DISEASE, ENDOCRINE-NEOPLASIA-TYPE-2A-SYNDROME, MANAGEMENT, FREQUENCY, 312 Clinical medicine",
author = "Zoran Erlic and Hoffmann, {Michael M.} and Maren Sullivan and Gerlind Franke and Mariola Peczkowska and Igor Harsch and Matthias Schott and Gabbert, {Helmut E.} and Matti V{\"a}lim{\"a}ki and Preuss, {Simon F.} and Kornelia Hasse-Lazar and Dariusz Waligorski and Mercedes Robledo and Andrzej Januszewicz and Charis Eng and Neumann, {Hartmut P. H.}",
year = "2010",
doi = "10.1210/jc.2009-1728",
language = "English",
volume = "95",
pages = "308--313",
journal = "Journal of Clinical Endocrinology and Metabolism",
issn = "0021-972X",
publisher = "Endocrine Society",

}

Erlic, Z, Hoffmann, MM, Sullivan, M, Franke, G, Peczkowska, M, Harsch, I, Schott, M, Gabbert, HE, Välimäki, M, Preuss, SF, Hasse-Lazar, K, Waligorski, D, Robledo, M, Januszewicz, A, Eng, C & Neumann, HPH 2010, 'Pathogenicity of DNA Variants and Double Mutations in Multiple Endocrine Neoplasia Type 2 and Von Hippel-Lindau Syndrome', Journal of Clinical Endocrinology and Metabolism, vol. 95, s. 308-313. https://doi.org/10.1210/jc.2009-1728

Pathogenicity of DNA Variants and Double Mutations in Multiple Endocrine Neoplasia Type 2 and Von Hippel-Lindau Syndrome. / Erlic, Zoran; Hoffmann, Michael M.; Sullivan, Maren; Franke, Gerlind; Peczkowska, Mariola; Harsch, Igor; Schott, Matthias; Gabbert, Helmut E.; Välimäki, Matti; Preuss, Simon F.; Hasse-Lazar, Kornelia; Waligorski, Dariusz; Robledo, Mercedes; Januszewicz, Andrzej; Eng, Charis; Neumann, Hartmut P. H.

I: Journal of Clinical Endocrinology and Metabolism, Vol. 95, 2010, s. 308-313.

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

TY - JOUR

T1 - Pathogenicity of DNA Variants and Double Mutations in Multiple Endocrine Neoplasia Type 2 and Von Hippel-Lindau Syndrome

AU - Erlic, Zoran

AU - Hoffmann, Michael M.

AU - Sullivan, Maren

AU - Franke, Gerlind

AU - Peczkowska, Mariola

AU - Harsch, Igor

AU - Schott, Matthias

AU - Gabbert, Helmut E.

AU - Välimäki, Matti

AU - Preuss, Simon F.

AU - Hasse-Lazar, Kornelia

AU - Waligorski, Dariusz

AU - Robledo, Mercedes

AU - Januszewicz, Andrzej

AU - Eng, Charis

AU - Neumann, Hartmut P. H.

PY - 2010

Y1 - 2010

KW - RET PROTOONCOGENE MUTATIONS

KW - MEDULLARY-THYROID CARCINOMA

KW - C-CELL HYPERPLASIA

KW - AFFECTING CODON-790/791

KW - MILD FORM

KW - CALCITONIN

KW - DISEASE

KW - ENDOCRINE-NEOPLASIA-TYPE-2A-SYNDROME

KW - MANAGEMENT

KW - FREQUENCY

KW - 312 Clinical medicine

U2 - 10.1210/jc.2009-1728

DO - 10.1210/jc.2009-1728

M3 - Article

VL - 95

SP - 308

EP - 313

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

SN - 0021-972X

ER -