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Semmelweis Egyetem, Általános Orvostudományi Kar, II. Belgyógyászati Klinika, Hungary
Laboratóriumi Medicina Intézet, Budapest, Hungary
Magyar Tudományos Akadémia–Semmelweis Egyetem, Lendület Örökletes Endokrin Daganatok Kutatócsoport, Budapest, Hungary
Magyar Tudományos Akadémia–Semmelweis Egyetem, Molekuláris Medicina Kutatócsoport, Budapest, Hungary
Szentkirályi u. 46, Budapest, 1088, Hungary
Cited By :3
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Molekuláris genetikai vizsgálatok az örökletes endokrinológiai tumor szindrómák klinikai diagnosztikájában
Evolution of molecular genetic methods in the clinical diagnosis of hereditary endocrine tumour syndromes
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Abstract: The common features of hereditary endocrine tumour syndromes or multiple endocrine neoplasias (MEN) are the association of various tumours of different endocrine organs in one patient or within the same family. Different types can be distinguished from among which type 1 and type 2 are the most common. The mode of inheritance is autosomal dominant, meaning that there is a 50% chance to inherit the pathogenic alteration. The pathogenic variants of genes responsible for MEN syndromes have also been identified in sporadic endocrine tumours and many cases initially referred to as sporadic have been later categorized as familiar based on genetic analysis. The main role of the molecular genetic analysis in these syndromes is to identify the pathogenic variant, then, after appropriate genetic counseling, to perform the genetic screening of first-degree relatives. Following molecular genetic analysis, the state-of-the-art clinical follow-up of the clinically healthy mutation carriers may decrease or even prevent the morbidity and mortality. Due to technological developments in recent years, the molecular genetic analysis of hereditary tumour syndromes has also been changed. Using next generation based sequencing methods in routine clinical diagnostics, the number of pathogenic genes in endocrine tumours has also increased. The present review focuses on the genetic background of hereditary endocrine tumour syndromes and the recently used molecular biological methods will also be presented. Orv Hetil. 2018; 159(7): 285?292.
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<div class="JournalArticle Publication short-list"> <div class="authors"> <span class="author-name" mtid="10057384"> <a href="/gui2/?type=authors&mode=browse&sel=10057384" target="_blank">Sarkadi, Balázs</a> </span> <span class="author-type"> </span> ; <span class="author-name" mtid="10032280"> <a href="/gui2/?type=authors&mode=browse&sel=10032280" target="_blank">Grolmusz, Vince Kornél</a> </span> <span class="author-type"> </span> ; <span class="author-name" mtid="10020420"> <a href="/gui2/?type=authors&mode=browse&sel=10020420" target="_blank">Butz, Henriett</a> </span> <span class="author-type"> </span> ; <span class="author-name" mtid="10057312"> <a href="/gui2/?type=authors&mode=browse&sel=10057312" target="_blank">Kövesdi, Annamária</a> </span> <span class="author-type"> </span> ; <span class="author-name" mtid="10025130"> <a href="/gui2/?type=authors&mode=browse&sel=10025130" target="_blank">Likó, István</a> </span> <span class="author-type"> </span> ; <span class="author-name" mtid="10027574"> <a href="/gui2/?type=authors&mode=browse&sel=10027574" target="_blank">Nyirő, Gábor</a> </span> <span class="author-type"> </span> ; <span class="author-name" mtid="10000070"> <a href="/gui2/?type=authors&mode=browse&sel=10000070" target="_blank">Igaz, Péter</a> </span> <span class="author-type"> </span> ; <span class="author-name" mtid="10001006"> <a href="/gui2/?type=authors&mode=browse&sel=10001006" target="_blank">Patócs, Attila ✉</a> </span> <span class="author-type"> </span> </div ><div class="title"><a href="/gui2/?mode=browse¶ms=publication;3333418" mtid="3333418" target="_blank">Molekuláris genetikai vizsgálatok az örökletes endokrinológiai tumor szindrómák klinikai diagnosztikájában</a></div> <div class="pub-info"> <span class="journal-title">ORVOSI HETILAP</span> <span class="journal-volume">159</span> : <span class="journal-issue">7</span> <span class="page"> pp. 285-292. , 8 p. </span> <span class="year">(2018)</span> </div> <div class="pub-end"><div class="identifier-list"> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.1556/650.2018.31036" target="_blank" href="https://doi.org/10.1556/650.2018.31036"> DOI </a> </span> <span class="id identifier oa_GREEN" title=" Green "> <a style="color:blue" title="5754" target="_blank" href="https://repo.lib.semmelweis.hu/handle/123456789/5754"> SE Repozitórium </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000425110600007" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000425110600007"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85041942837" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85041942837"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="29429353" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=29429353&dopt=Abstract"> PubMed </a> </span> </span> </div> <div class="short-pub-prop-list"> <span class="short-pub-mtid"> Közlemény:3333418 </span> <span class="status-holder"><span class="status-data status-VALIDATED"> Egyeztetett </span></span> <span class="pub-core">Forrás Idéző </span> <span class="pub-type">Folyóiratcikk (Összefoglaló cikk ) </span> <!-- && !record.category.scientific --> <span class="pub-category">Tudományos</span> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 4</span> | Független: 0 | Függő: 4 | Nem jelölt: 0 | WoS jelölt: 1 | Scopus jelölt: 4 | WoS/Scopus jelölt: 4 | DOI jelölt: 2 </div> </div> </div> </div><div class="JournalArticle Publication long-list">
<div class="authors">
<img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png">
<img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png">
<div class="autype autype0"> <span class="author-name" mtid="10057384"><a
href="/gui2/?type=authors&mode=browse&sel=10057384" target="_blank">Sarkadi Balázs
(<span class="authorship-author-name">Sarkadi Balázs</span>
<span class="authorAux-mtmt"> klinikai orvostudományok</span>)
</a>
</span>
<span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/II. Sz. Belgyógyászati Klinika; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Laboratóriumi Medicina Intézet">LABMEDINT</span>/MTA-SE Örökletes Daganatok Kutatócsoport</span>
;
<span class="author-name" mtid="10032280"><a
href="/gui2/?type=authors&mode=browse&sel=10032280" target="_blank">Grolmusz Vince Kornél
(<span class="authorship-author-name">Grolmusz Vince Kornél</span>
<span class="authorAux-mtmt"> orvostudomány</span>)
</a>
</span>
<span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/II. Sz. Belgyógyászati Klinika; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/<span title="II. Sz. Belgyógyászati Klinika">IISZBK</span>/MTA-SE Lendület Örökletes Endokrin Daganatok Kutatócsoport</span>
;
<span class="author-name" mtid="10020420"><a
href="/gui2/?type=authors&mode=browse&sel=10020420" target="_blank">Butz Henriett
(<span class="authorship-author-name">Butz Henriett</span>
<span class="authorAux-mtmt"> orvostudomány</span>)
</a>
</span>
<span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Laboratóriumi Medicina Intézet; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/<span title="II. Sz. Belgyógyászati Klinika">IISZBK</span>/MTA-SE Lendület Örökletes Endokrin Daganatok Kutatócsoport</span>
;
<span class="author-name" mtid="10057312"><a
href="/gui2/?type=authors&mode=browse&sel=10057312" target="_blank">Kövesdi Annamária
(<span class="authorship-author-name">Kövesdi Annamária</span>
<span class="authorAux-mtmt"> belgyógyászat</span>)
</a>
</span>
<span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/II. Sz. Belgyógyászati Klinika; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/<span title="II. Sz. Belgyógyászati Klinika">IISZBK</span>/MTA-SE Lendület Örökletes Endokrin Daganatok Kutatócsoport</span>
;
<span class="author-name" mtid="10025130"><a
href="/gui2/?type=authors&mode=browse&sel=10025130" target="_blank">Likó István
(<span class="authorship-author-name">Likó István</span>
<span class="authorAux-mtmt"> Bioinformatika-Molekuláris biológia</span>)
</a>
</span>
<span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/<span title="II. Sz. Belgyógyászati Klinika">IISZBK</span>/MTA-SE Lendület Örökletes Endokrin Daganatok Kutatócsoport</span>
;
<span class="author-name" mtid="10027574"><a
href="/gui2/?type=authors&mode=browse&sel=10027574" target="_blank">Nyirő Gábor
(<span class="authorship-author-name">Nyírő Gábor</span>
<span class="authorAux-mtmt"> Molekuláris biológia-genetika</span>)
</a>
</span>
<span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/<span title="II. Sz. Belgyógyászati Klinika">IISZBK</span>/MTA-SE Molekuláris Medicina Kutatócsoport; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/<span title="II. Sz. Belgyógyászati Klinika">IISZBK</span>/MTA-SE Lendület Örökletes Endokrin Daganatok Kutatócsoport</span>
;
<span class="author-name" mtid="10000070"><a
href="/gui2/?type=authors&mode=browse&sel=10000070" target="_blank">Igaz Péter
(<span class="authorship-author-name">Igaz Péter</span>
<span class="authorAux-mtmt"> belgyógyászat, endokrinológia, klinikai molekul...</span>)
</a>
</span>
<span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/<span title="II. Sz. Belgyógyászati Klinika">IISZBK</span>/MTA-SE Molekuláris Medicina Kutatócsoport; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/II. Sz. Belgyógyászati Klinika</span>
;
<span class="author-name" mtid="10001006"><a
href="/gui2/?type=authors&mode=browse&sel=10001006" target="_blank">Patócs Attila ✉
(<span class="authorship-author-name">Patócs Attila Balázs</span>
<span class="authorAux-mtmt"> Orvostudomány</span>)
</a>
</span>
<span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/II. Sz. Belgyógyászati Klinika; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Laboratóriumi Medicina Intézet; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/<span title="II. Sz. Belgyógyászati Klinika">IISZBK</span>/MTA-SE Lendület Örökletes Endokrin Daganatok Kutatócsoport</span>
</div>
</div>
<div class="title"><a href="/gui2/?mode=browse¶ms=publication;3333418" target="_blank">Molekuláris genetikai vizsgálatok az örökletes endokrinológiai tumor szindrómák klinikai diagnosztikájában</a></div> <div> <span class="journal-title">ORVOSI HETILAP</span>
<span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/0030-6002">0030-6002</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1788-6120">1788-6120</a>)</span>:
<span class="journal-volume">159</span> <span class="journal-issue">7</span>
<span class="page">
pp 285-292
</span> <span class="year">(2018)</span>
</div>
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<pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Semmelweis Egyetem, Általános Orvostudományi Kar, II. Belgyógyászati Klinika, Hungary
Laboratóriumi Medicina Intézet, Budapest, Hungary
Magyar Tudományos Akadémia–Semmelweis Egyetem, Lendület Örökletes Endokrin Daganatok Kutatócsoport, Budapest, Hungary
Magyar Tudományos Akadémia–Semmelweis Egyetem, Molekuláris Medicina Kut...</pre>
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<div class="lastModified">Utolsó módosítás: 2023.08.28. 08:36 Molnár-Taga Márta (SE 4-es admin)
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<pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Cited By :1
Export Date: 19 November 2023</pre>
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Funding Agency and Grant Number: Thyroid Cancer Survivors' Association, Inc., (ThyCa); American Thyroid Association
Funding text: The ATA Guidelines Task Force would like to thank and acknowledge those who were of great help during the development of the revised guidelines: Ms. Bobbi Smith, Executive Director of the ATA, and the staff at the ATA, for their continuing involvement and support during the preparation of the manuscript; Ms. Alicia A. Livinski, Biomedical Librarian, National Institutes of Health Library for assistance with the manuscript and bibliography; Dr. Susan Shaw De-Vesa, Biostatistics Branch, National Cancer Institute, for help in calculating the incidence of MEN2A and of MEN2B using the Surveillance, Epidemiology, and End Results (SEER) Stat version 8.1.2 Rate Session. Access the SEER 18 database at www.seer.cancer.gov). Incidence - SEER 18 Regs Research Data + Hurricane Katrina Impacted Louisiana Cases, Nov 2012 Sub (2000-2010) < Katrina/Rita Population Adjustment >- Linked To County Attributes - Total U.S., 1969-2011 Counties, National Cancer Institute, DCCPS, Surveillance Research Program, Surveillance Systems Branch, released April 2013, based on the November 2012 submission. The Thyroid Cancer Survivors' Association, Inc., (ThyCa) for contributing an unrestricted educational grant towards the development of the Revised American Thyroid Association Guidelines for the Management of Medullary Thyroid Carcinoma. The American Thyroid Association provided the remainder of the funding. There was no commercial support.
Genetics Branch, National Cancer Institute, National Institutes of Health, 37 Convent Drive, Bethesda, MD 20814, United States
Department of Pathology, University Health Network, Department of Laboratory Medicine and Pathobiology, Toronto, ON, Canada
Department of General, Visceral and Vascular Surgery, University Hospital, University of Halle-Wittenberg, Halle/Saale, Germany
Department of Endocrinology, University of Pisa, Pisa, Italy
Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States
Department of Endocrine Neoplasia and Hormonal Disorders, Division of Internal Medicine, University of Texas MD Anderson Cancer Center, Houston, TX, United States
Department of Radiation Oncology, Memorial Sloan-Kettering Cancer Center, New York, NY, United States
Department of Surgery, Washington University, School of Medicine, St. Louis, MO, United States
Section of Endocrinology and Metabolism, Department of Internal Medicine, Endocrinology and Metabolism and Biochemistry, University of Siena, Siena, Italy
Moleculargenetic Laboratory, Medical Faculty, University of Heidelberg, Heidelberg, Germany
University of Sydney, School of Medicine, Sydney, NSW, Australia
Departments of Internal Medicine, Pediatrics and Behavioral Science, University of Kentucky, Lexington, KY, United States
Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universita' di Napoli Federico II, Napoli, Italy
Institut Gustave Roussy, Service de Medecine Nucleaire, Université of Paris-Sud, Villejuif, France
Division of Medical Oncology, Department of Internal Medicine, Ohio State University, Columbus, OH, United States
Cited By :507
Export Date: 26 July 2019
CODEN: THYRE
Correspondence Address: Wells, S.A.; Genetics Branch, National Cancer Institute, National Institutes of Health, 37 Convent Drive, United States
Genetics Branch, National Cancer Institute, National Institutes of Health, 37 Convent Drive, Bethesda, MD 20814, United States
Department of Pathology, University Health Network, Department of Laboratory Medicine and Pathobiology, Toronto, ON, Canada
Department of General, Visceral and Vascular Surgery, University Hospital, University of Halle-Wittenberg, Halle/Saale, Germany
Department of Endocrinology, University of Pisa, Pisa, Italy
Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States
Department of Endocrine Neoplasia and Hormonal Disorders, Division of Internal Medicine, University of Texas MD Anderson Cancer Center, Houston, TX, United States
Department of Radiation Oncology, Memorial Sloan-Kettering Cancer Center, New York, NY, United States
Department of Surgery, Washington University, School of Medicine, St. Louis, MO, United States
Section of Endocrinology and Metabolism, Department of Internal Medicine, Endocrinology and Metabolism and Biochemistry, University of Siena, Siena, Italy
Moleculargenetic Laboratory, Medical Faculty, University of Heidelberg, Heidelberg, Germany
University of Sydney, School of Medicine, Sydney, NSW, Australia
Departments of Internal Medicine, Pediatrics and Behavioral Science, University of Kentucky, Lexington, KY, United States
Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universita' di Napoli Federico II, Napoli, Italy
Institut Gustave Roussy, Service de Medecine Nucleaire, Université of Paris-Sud, Villejuif, France
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Export Date: 22 April 2021
CODEN: THYRE
Correspondence Address: Wells, S.A.; Genetics Branch, National Cancer Institute, National Institutes of Health, 37 Convent Drive, United States
Funding Agency and Grant Number: Thyroid Cancer Survivors' Association, Inc., (ThyCa); American Thyroid Association; NATIONAL CANCER INSTITUTEUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Cancer Institute (NCI) [P30CA016672] Funding Source: NIH RePORTER
Funding text: The ATA Guidelines Task Force would like to thank and acknowledge those who were of great help during the development of the revised guidelines: Ms. Bobbi Smith, Executive Director of the ATA, and the staff at the ATA, for their continuing involvement and support during the preparation of the manuscript; Ms. Alicia A. Livinski, Biomedical Librarian, National Institutes of Health Library for assistance with the manuscript and bibliography; Dr. Susan Shaw De-Vesa, Biostatistics Branch, National Cancer Institute, for help in calculating the incidence of MEN2A and of MEN2B using the Surveillance, Epidemiology, and End Results (SEER) Stat version 8.1.2 Rate Session. Access the SEER 18 database at www.seer.cancer.gov). Incidence - SEER 18 Regs Research Data + Hurricane Katrina Impacted Louisiana Cases, Nov 2012 Sub (2000-2010) < Katrina/Rita Population Adjustment >- Linked To County Attributes - Total U.S., 1969-2011 Counties, National Cancer Institute, DCCPS, Surveillance Research Program, Surveillance Systems Branch, released April 2013, based on the November 2012 submission. The Thyroid Cancer Survivors' Association, Inc., (ThyCa) for contributing an unrestricted educational grant towards the development of the Revised American Thyroid Association Guidelines for the Management of Medullary Thyroid Carcinoma. The American Thyroid Association provided the remainder of the funding. There was no commercial support.
Genetics Branch, National Cancer Institute, National Institutes of Health, 37 Convent Drive, Bethesda, MD 20814, United States
Department of Pathology, University Health Network, Department of Laboratory Medicine and Pathobiology, Toronto, ON, Canada
Department of General, Visceral and Vascular Surgery, University Hospital, University of Halle-Wittenberg, Halle/Saale, Germany
Department of Endocrinology, University of Pisa, Pisa, Italy
Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, United States
Department of Endocrine Neoplasia and Hormonal Disorders, Division of Internal Medicine, University of Texas MD Anderson Cancer Center, Houston, TX, United States
Department of Radiation Oncology, Memorial Sloan-Kettering Cancer Center, New York, NY, United States
Department of Surgery, Washington University, School of Medicine, St. Louis, MO, United States
Section of Endocrinology and Metabolism, Department of Internal Medicine, Endocrinology and Metabolism and Biochemistry, University of Siena, Siena, Italy
Moleculargenetic Laboratory, Medical Faculty, University of Heidelberg, Heidelberg, Germany
University of Sydney, School of Medicine, Sydney, NSW, Australia
Departments of Internal Medicine, Pediatrics and Behavioral Science, University of Kentucky, Lexington, KY, United States
Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universita' di Napoli Federico II, Napoli, Italy
Institut Gustave Roussy, Service de Medecine Nucleaire, Université of Paris-Sud, Villejuif, France
Division of Medical Oncology, Department of Internal Medicine, Ohio State University, Columbus, OH, United States
Cited By :869
Export Date: 31 July 2021
CODEN: THYRE
Correspondence Address: Wells, S.A.; Genetics Branch, National Cancer Institute, National Institutes of Health, 37 Convent Drive, United States
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<pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Funding Agency and Grant Number: Thyroid Cancer Survivors' Association, Inc., (ThyCa); American Thyroid Association
Funding text: The ATA Guidelines Task Force would like to thank and acknowledge those who were of great help during the development of the revised guidelines: Ms. Bobbi Smith, Executive Director of the ATA, and the staff at the ATA, for their continuing involvement and...</pre>
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<pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Servei de Bioquímica i Genètica Molecular, CDB, Hospital Clínic, University of Barcelona, Barcelona, Spain
Unitat d'Endocrinologia Diabetis i Nutrició (UDENTG), CIBEROBN, Hospital Dr Josep Trueta, Girona, Spain
CIBERDEM (CIBER de Diabetes y Enfermedades Metabólicas Asociadas), Instituto de Salud Carlos III, Diabetes and Metabolism Research Unit, V...</pre>
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<pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Funding Agency and Grant Number: AstraZeneca; Roche
Funding text: B.G.R. has served on advisory boards for AstraZeneca, Eisai, and Bayer. M.S. has received research support from AstraZeneca and Roche and participated in a collaborative study with Ariad. F.P. and S.A.W. have nothing to declare.
Cited By :139
Export Date: 26 July 2019
CO...</pre>
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Export Date: 26 July 2019
Correspondence Address: Opocher, G.; University of Padova, Department of Medicine, Via Gattamelata, 64, 35128 Padova, Italy; email: giuseppe.opocher@unipd.it
University of Padova, Department of Medicine, Via Gattamelata, 64, 35128 Padova, Italy
Veneto Institute of Oncology, Via Gattamelata, 64, 35128 Padova, Italy
Cited By :5
Export Date: 22 April 2021
Correspondence Address: Opocher, G.; University of Padova, Via Gattamelata, 64, 35128 Padova, Italy; email: giuseppe.opocher@unipd.it
University of Padova, Department of Medicine, Via Gattamelata, 64, 35128 Padova, Italy
Veneto Institute of Oncology, Via Gattamelata, 64, 35128 Padova, Italy
Cited By :5
Export Date: 31 July 2021
Correspondence Address: Opocher, G.; University of Padova, Via Gattamelata, 64, 35128 Padova, Italy; email: giuseppe.opocher@unipd.it
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<pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Supplement: 1
University of Padova, Department of Medicine, Via Gattamelata, 64, 35128 Padova, Italy
Veneto Institute of Oncology, Via Gattamelata, 64, 35128 Padova, Italy
Cited By :3
Export Date: 26 July 2019
Correspondence Address: Opocher, G.; University of Padova, Department of Medicine, Via Gatt...</pre>
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Department of Surgery, University of Iowa, Carver College of Medicine, Iowa City, IA, United States
Department of Pediatrics, University of Iowa, Carver College of Medicine, Iowa City, IA, United States
Department of Internal Medicine, University of Iowa, Carver College of Medicine, Iowa City, IA, United States
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<pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Department of Surgery, University of Iowa, Carver College of Medicine, Iowa City, IA, United States
Department of Pediatrics, University of Iowa, Carver College of Medicine, Iowa City, IA, United States
Department of Internal Medicine, University of Iowa, Carver College of Medicine, Iowa City, IA, United States
Export Date:...</pre>
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Correspondence Address: MacHens, A.; Department of General, Visceral and Vascular Surgery, , Halle (Saale), Germany; email: AndreasMachens@aol.com
Chemicals/CAS: amino acid, 65072-01-7; cysteine, 4371-52-2, 52-89-1, 52-90-4; glycine, 56-40-6, 6000-43-7, 6000-44-8; protein Ret, 154251-46-4, 158709-11-6; serine, 56-45-1, 6898-95-9; Codon; Proto-Oncogene Proteins c-ret, 2.7.10.1; RET protein, human, 2.7.1.112
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<pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Cited By :1
Export Date: 19 November 2023
CODEN: ASONF
Correspondence Address: MacHens, A.; Department of General, Visceral and Vascular Surgery, , Halle (Saale), Germany; email: AndreasMachens@aol.com
Chemicals/CAS: amino acid, 65072-01-7; cysteine, 4371-52-2, 52-89-1, 52-90-4; glycine, 56-40-6, 600...</pre>
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Export Date: 19 November 2023
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<pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Department of Surgery, University of Iowa, College of Medicine, Iowa City, IA, United States
Department of Medicine, University of Iowa, College of Medicine, Iowa City, IA, United States
Department of Pediatrics, University of Iowa, College of Medicine, Iowa City, IA, United States
Cited By :17
Expor...</pre>
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<pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Funding Agency and Grant Number: AstraZenecaAstraZeneca; Exelixis; EisaiEisai Co Ltd; Pfizer Inc.Pfizer; AmgenAmgen
Funding text: Task Force disclosure information is provided for the two years prior to March 2008 and the known future as of February 2009. RTK served as a consultant for AstraZeneca, Bayer Pharmaceuticals Corporation, and Onyx Pharmaceuticals, Inc. (without compensati...</pre>
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Chemicals/CAS: calcitonin, 12321-44-7, 21215-62-3, 9007-12-9; pentagastrin, 5534-95-2; protein Ret, 154251-46-4, 158709-11-6; DNA Primers; Proto-Oncogene Proteins c-ret, EC 2.7.1.112; RET protein, human, EC 2.7.1.112
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<pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Cited By :34
Export Date: 29 November 2023
CODEN: CLLAF
Correspondence Address: Frank-Raue, K.; Endokrinologisch Gemeinschaftspraxis, Brückenstrasse 21, 69120 Heidelberg, Germany; email: karin.frankraue@raue-endokrinologie.de
Chemicals/CAS: calcitonin, 12321-44-7, 21215-62-3, 9007-12-9; pentagastrin,...</pre>
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<div class="JournalArticle Publication short-list"> <div class="authors"> <span class="author-name" > Cheikhrouhou, H </span> <span class="author-type"> </span> ; <span class="author-name" > Khiari, K </span> <span class="author-type"> </span> ; <span class="author-name" > Chérif, L </span> <span class="author-type"> </span> ; <span class="author-name" > Hadj, Ali I </span> <span class="author-type"> </span> ; <span class="author-name" > Héni, M </span> <span class="author-type"> </span> ; <span class="author-name" > Rajhi, H </span> <span class="author-type"> </span> ; <span class="author-name" > Ben, Abdallah N </span> <span class="author-type"> </span> </div ><div class="title"><a href="/gui2/?mode=browse¶ms=publication;21379679" mtid="21379679" target="_blank">Les phéochromocytomes malins: À propos de trois observations [Malignant pheochromocytomas: About three cases].</a></div> <div class="pub-info"> <span class="journal-title">ANNALES D ENDOCRINOLOGIE</span> <span class="journal-volume">67</span> : <span class="journal-issue">3</span> <span class="page"> pp. 238-244. , 7 p. </span> <span class="year">(2006)</span> </div> <div class="pub-end"><div class="identifier-list"> <span class="identifiers"> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="10.1016/S0003-4266(06)72592-6" target="_blank" href="https://doi.org/10.1016%2FS0003-4266%2806%2972592-6"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000238936200008" target="_blank" href="http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=CustomerName&SrcApp=CustomerName&DestLinkType=FullRecord&KeyUT=000238936200008&DestApp=WOS"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="33745655620" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-33745655620"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="16840915" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16840915&dopt=Abstract"> PubMed </a> </span> </span> </div> <span class="short-pub-prop-list"> <span class="short-pub-mtid"> Közlemény:21379679 </span> <span class="status-holder"><span class="status-data status-ADMIN_APPROVED"> Admin láttamozott </span></span> <span class="pub-core"> Idéző</span> <span class="pub-type">Folyóiratcikk (Szakcikk ) </span> <!-- && !record.category.scientific --> <span class="pub-category">Tudományos</span> </span> </div> </div><div class="JournalArticle Publication long-list">
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<div class="title"><a href="/gui2/?mode=browse¶ms=publication;21379679" target="_blank">Les phéochromocytomes malins: À propos de trois observations [Malignant pheochromocytomas: About three cases].</a></div> <div> <span class="journal-title">ANNALES D ENDOCRINOLOGIE</span>
<span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/0003-4266">0003-4266</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/2213-3941">2213-3941</a>)</span>:
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The genotype and phenotype characteristics of Hungarian patients with RET proto-oncogene mutations operated on for hereditary medullary thyroid cancer (MTC) were studied. The genetic screening was performed in two centers and 40 patients with hereditary MTC or C-cell hyperplasia (CCH) from 18 unrelated families were analyzed. One patient having a mutation in exon 16 (Met918Thr) presented with the MEN2B phenotype, six patients from two families had hereditary MTC without pheochromocytoma (pheo) and primary hyperparathyroidism (PHPT), whereas 33 patients from 15 families showed the MEN2A phenotype. Two different mutations were identified in exon 10 (Cys609Tyr and Cys609Ser), five different mutations were present in exon 11 (Cys634Phe, Cys634Arg, Cys634Tyr, Cys634Trp and Cys634Ser), and two different mutations were localized in exon 14 (Val804Met and Val804Leu). Mutations in exon 10 were associated with hereditary MTC (Cys609Tyr) or with MEN2A syndrome (Cys609Ser). Mutations in exon 11 were always associated with the MEN2A phenotype. PHPT was present in one patient with mutation in exon 14 (Val804Met), whereas all other patients affected with mutations in exon 14 had hereditary MTC without PHPT and/or pheos.
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<div class="JournalArticle Publication short-list"> <div class="authors"> <span class="author-name" mtid="10001006"> <a href="/gui2/?type=authors&mode=browse&sel=10001006" target="_blank">Patocs, A</a> </span> <span class="author-type"> </span> ; <span class="author-name" mtid="10011781"> <a href="/gui2/?type=authors&mode=browse&sel=10011781" target="_blank">Klein, I</a> </span> <span class="author-type"> </span> ; <span class="author-name" mtid="10024520"> <a href="/gui2/?type=authors&mode=browse&sel=10024520" target="_blank">Szilvasi, A</a> </span> <span class="author-type"> </span> ; <span class="author-name" > Gergics, P </span> <span class="author-type"> </span> ; <span class="author-name" mtid="10014760"> <a href="/gui2/?type=authors&mode=browse&sel=10014760" target="_blank">Toth, M</a> </span> <span class="author-type"> </span> ; <span class="author-name" mtid="10029231"> <a href="/gui2/?type=authors&mode=browse&sel=10029231" target="_blank">Valkusz, Z</a> </span> <span class="author-type"> </span> ; <span class="author-name" > Forizs, E </span> <span class="author-type"> </span> ; <span class="author-name" mtid="10000070"> <a href="/gui2/?type=authors&mode=browse&sel=10000070" target="_blank">Igaz, P</a> </span> <span class="author-type"> </span> ; <span class="author-name" > Al-Farhat, Y </span> <span class="author-type"> </span> ; <span class="author-name" mtid="10002439"> <a href="/gui2/?type=authors&mode=browse&sel=10002439" target="_blank">Tordai, A</a> </span> <span class="author-type"> </span> et al. </div ><div class="title"><a href="/gui2/?mode=browse¶ms=publication;1077742" mtid="1077742" target="_blank">Genotype-phenotype correlations in Hungarian patients with hereditary medullary thyroid cancer</a></div> <div class="pub-info"> <span class="journal-title">WIENER KLINISCHE WOCHENSCHRIFT: MIDDLE EUROPEAN JOURNAL OF MEDICINE</span> <span class="journal-volume">118</span> : <span class="journal-issue">13-14</span> <span class="page"> pp. 417-421. , 5 p. </span> <span class="year">(2006)</span> </div> <div class="pub-end"><div class="identifier-list"> <span class="identifiers"> <span class="id identifier oa_PAY" title=" Fizetős "> <a style="color:blue" title="10.1007/s00508-006-0635-9" target="_blank" href="https://doi.org/10.1007/s00508-006-0635-9"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000241516300009" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000241516300009"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="33747378809" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-33747378809"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="16865647" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16865647&dopt=Abstract"> PubMed </a> </span> </span> </div> <div class="short-pub-prop-list"> <span class="short-pub-mtid"> Közlemény:1077742 </span> <span class="status-holder"><span class="status-data status-VALIDATED"> Egyeztetett </span></span> <span class="pub-core">Forrás Idéző </span> <span class="pub-type">Folyóiratcikk (Szakcikk ) </span> <!-- && !record.category.scientific --> <span class="pub-category">Tudományos</span> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 16</span> | Független: 11 | Függő: 5 | Nem jelölt: 0 | WoS jelölt: 15 | Scopus jelölt: 16 | WoS/Scopus jelölt: 16 | DOI jelölt: 15 </div> </div> </div> </div><div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" mtid="10001006"><a href="/gui2/?type=authors&mode=browse&sel=10001006" target="_blank">Patocs A (<span class="authorship-author-name">Patócs Attila Balázs</span> <span class="authorAux-mtmt"> Orvostudomány</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/II. Sz. Belgyógyászati Klinika</span> ; <span class="author-name" mtid="10011781"><a href="/gui2/?type=authors&mode=browse&sel=10011781" target="_blank">Klein I (<span class="authorship-author-name">Klein Izabella</span> <span class="authorAux-mtmt"> Enzimológia</span>) </a> </span> ; <span class="author-name" mtid="10024520"><a href="/gui2/?type=authors&mode=browse&sel=10024520" target="_blank">Szilvasi A (<span class="authorship-author-name">Szilvási Anikó</span> <span class="authorAux-mtmt"> Biológia</span>) </a> </span> ; <span class="author-name" >Gergics P </span> ; <span class="author-name" mtid="10014760"><a href="/gui2/?type=authors&mode=browse&sel=10014760" target="_blank">Toth M (<span class="authorship-author-name">Tóth Miklós</span> <span class="authorAux-mtmt"> Belgyógyászat, Endokrinológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/II. Sz. Belgyógyászati Klinika</span> ; <span class="author-name" mtid="10029231"><a href="/gui2/?type=authors&mode=browse&sel=10029231" target="_blank">Valkusz Z (<span class="authorship-author-name">Valkusz Zsuzsanna</span> <span class="authorAux-mtmt"> belgyógyászat, endokrinológia</span>) </a> </span> ; <span class="author-name" >Forizs E </span> ; <span class="author-name" mtid="10000070"><a href="/gui2/?type=authors&mode=browse&sel=10000070" target="_blank">Igaz P (<span class="authorship-author-name">Igaz Péter</span> <span class="authorAux-mtmt"> belgyógyászat, endokrinológia, klinikai molekul...</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/II. Sz. 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<pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: hivatkozás a 81. oldalon
University of Helsinki</pre>
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<pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Google Scholar
URL: http://link.springer.com/chapter/10.1007/1-4020-8107-3_23#page-1
70. hivatkozás</pre>
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<div class="JournalArticle Publication short-list"> <div class="authors"> <span class="author-name" > Quayle, F J </span> <span class="author-type"> </span> ; <span class="author-name" > Moley, J F </span> <span class="author-type"> </span> </div ><div class="title"><a href="/gui2/?mode=browse¶ms=publication;21379684" mtid="21379684" target="_blank">Medullary thyroid carcinoma: Including MEN 2A and MEN 2B syndromes</a></div> <div class="pub-info"> <span class="journal-title">JOURNAL OF SURGICAL ONCOLOGY</span> <span class="journal-volume">89</span> : <span class="journal-issue">3</span> <span class="page"> pp. 122-129. , 8 p. </span> <span class="year">(2005)</span> </div> <div class="pub-end"><div class="identifier-list"> <span class="identifiers"> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="10.1002/jso.20184" target="_blank" href="https://doi.org/10.1002%2Fjso.20184"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000227312700004" target="_blank" href="http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=CustomerName&SrcApp=CustomerName&DestLinkType=FullRecord&KeyUT=000227312700004&DestApp=WOS"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="14644446016" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-14644446016"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="15719378" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15719378&dopt=Abstract"> PubMed </a> </span> </span> </div> <span class="short-pub-prop-list"> <span class="short-pub-mtid"> Közlemény:21379684 </span> <span class="status-holder"><span class="status-data status-ADMIN_APPROVED"> Admin láttamozott </span></span> <span class="pub-core"> Idéző </span> <span class="pub-type">Folyóiratcikk (Összefoglaló cikk ) </span> <!-- && !record.category.scientific --> <span class="pub-category">Tudományos</span> </span> </div> </div><div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" >Quayle F J </span> ; <span class="author-name" >Moley J F </span> </div> </div> <div class="title"><a href="/gui2/?mode=browse¶ms=publication;21379684" target="_blank">Medullary thyroid carcinoma: Including MEN 2A and MEN 2B syndromes</a></div> <div> <span class="journal-title">JOURNAL OF SURGICAL ONCOLOGY</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/0022-4790">0022-4790</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1096-9098">1096-9098</a>)</span>: <span class="journal-volume">89</span> <span class="journal-issue">3</span> <span class="page"> pp 122-129 </span> <span class="year">(2005)</span> <br> </span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="10.1002/jso.20184" target="_blank" href="https://doi.org/10.1002%2Fjso.20184"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000227312700004" target="_blank" href="http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=CustomerName&SrcApp=CustomerName&DestLinkType=FullRecord&KeyUT=000227312700004&DestApp=WOS"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="14644446016" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-14644446016"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="15719378" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15719378&dopt=Abstract"> PubMed </a> </span> </span> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;21379684&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 1 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 21379684</span> | <span class="status-data status-ADMIN_APPROVED"> Admin láttamozott </span> <span class="oldId">Régi azonosító: 11379684</span> | Idéző | <span class="type-subtype">Folyóiratcikk ( Összefoglaló cikk ) </span> | Tudományos </span> | <span class="publication-sourceOfData">Scopus-RIS</span> </div> <div class="lastModified">Utolsó módosítás: 2018.09.14. 10:23 MTMT1 Admin (admin) </div> </div></div>