Molecular Genetic Testing in Endocrinology—A Practical Guide
To discuss the factors to consider when evaluating patients with a suspected genetic endocrine disorder, so as to guide practicing endocrinologists through the process of genetic testing and result interpretation. The author's experience and review of appropriate literature have been used to gi...
Uložené v:
| Vydané v: | Endocrine practice Ročník 18; číslo 1; s. 85 - 89 |
|---|---|
| Hlavný autor: | |
| Médium: | Journal Article |
| Jazyk: | English |
| Vydavateľské údaje: |
United States
Elsevier Limited
01.01.2012
|
| Predmet: | |
| ISSN: | 1530-891X, 1934-2403, 1934-2403 |
| On-line prístup: | Získať plný text |
| Tagy: |
Pridať tag
Žiadne tagy, Buďte prvý, kto otaguje tento záznam!
|
| Abstract | To discuss the factors to consider when evaluating patients with a suspected genetic endocrine disorder, so as to guide practicing endocrinologists through the process of genetic testing and result interpretation.
The author's experience and review of appropriate literature have been used to give a personal perspective on the role of genetic testing in hereditary endocrine disorders.
Recent advances in our understanding of genetics and genomics have uncovered that they have a far more important role in the pathogenesis of endocrine disease than previously appreciated. Not only are we expanding our understanding of rare mendelian disorders such as multiple endocrine neoplasia type 1 and 2, but we are also beginning to understand the clinical significance of genetic factors in the pathogenesis of common disorders such as obesity and dyslipidemia.
It can be difficult to appreciate the clinical significance and utility of genetic testing that is currently available, and the interpretation of genetic test results can be challenging. Decisions on whether genetic testing is needed should be made on a case-by-case basis, with the endocrinologist and geneticist working together from the outset. |
|---|---|
| AbstractList | This study discusses the factors to consider when evaluating patients with a suspected genetic endocrine disorder, so as to guide practicing endocrinologists through the process of genetic testing and result interpretation. The author's experience and review of appropriate literature have been used to give a personal perspective on the role of genetic testing in hereditary endocrine disorders. Recent advances in the understanding of genetics and genomics have uncovered that they have a far more important role in the pathogenesis of endocrine disease than previously appreciated. It can be difficult to appreciate the clinical significance and utility of genetic testing that is currently available, and the interpretation of genetic test results can be challenging. Decisions on whether genetic testing is needed should be made on a case-by-case basis, with the endocrinologist and geneticist working together from the outset. To discuss the factors to consider when evaluating patients with a suspected genetic endocrine disorder, so as to guide practicing endocrinologists through the process of genetic testing and result interpretation. The author's experience and review of appropriate literature have been used to give a personal perspective on the role of genetic testing in hereditary endocrine disorders. Recent advances in our understanding of genetics and genomics have uncovered that they have a far more important role in the pathogenesis of endocrine disease than previously appreciated. Not only are we expanding our understanding of rare mendelian disorders such as multiple endocrine neoplasia type 1 and 2, but we are also beginning to understand the clinical significance of genetic factors in the pathogenesis of common disorders such as obesity and dyslipidemia. It can be difficult to appreciate the clinical significance and utility of genetic testing that is currently available, and the interpretation of genetic test results can be challenging. Decisions on whether genetic testing is needed should be made on a case-by-case basis, with the endocrinologist and geneticist working together from the outset. To discuss the factors to consider when evaluating patients with a suspected genetic endocrine disorder, so as to guide practicing endocrinologists through the process of genetic testing and result interpretation.OBJECTIVETo discuss the factors to consider when evaluating patients with a suspected genetic endocrine disorder, so as to guide practicing endocrinologists through the process of genetic testing and result interpretation.The author's experience and review of appropriate literature have been used to give a personal perspective on the role of genetic testing in hereditary endocrine disorders.METHODSThe author's experience and review of appropriate literature have been used to give a personal perspective on the role of genetic testing in hereditary endocrine disorders.Recent advances in our understanding of genetics and genomics have uncovered that they have a far more important role in the pathogenesis of endocrine disease than previously appreciated. Not only are we expanding our understanding of rare mendelian disorders such as multiple endocrine neoplasia type 1 and 2, but we are also beginning to understand the clinical significance of genetic factors in the pathogenesis of common disorders such as obesity and dyslipidemia.RESULTSRecent advances in our understanding of genetics and genomics have uncovered that they have a far more important role in the pathogenesis of endocrine disease than previously appreciated. Not only are we expanding our understanding of rare mendelian disorders such as multiple endocrine neoplasia type 1 and 2, but we are also beginning to understand the clinical significance of genetic factors in the pathogenesis of common disorders such as obesity and dyslipidemia.It can be difficult to appreciate the clinical significance and utility of genetic testing that is currently available, and the interpretation of genetic test results can be challenging. Decisions on whether genetic testing is needed should be made on a case-by-case basis, with the endocrinologist and geneticist working together from the outset.CONCLUSIONSIt can be difficult to appreciate the clinical significance and utility of genetic testing that is currently available, and the interpretation of genetic test results can be challenging. Decisions on whether genetic testing is needed should be made on a case-by-case basis, with the endocrinologist and geneticist working together from the outset. |
| Author | Kirmani, Salman |
| Author_xml | – sequence: 1 givenname: Salman surname: Kirmani fullname: Kirmani, Salman |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/22336444$$D View this record in MEDLINE/PubMed |
| BookMark | eNp90U1LwzAYAOAgivvQiz9ACh4UoTNfbZOLUMacwsQxdvBW0jQdGV0y0_awmz_CX-gvMXPTwxAPITk870fetweOjTUKgAsEBxRF7G40RYjEdDBLj0AXcUJDTCE59u-IwJBx9NoBvbpeQoghR-wUdDAmPoDSLrh_tpWSbSVcMFZGNVoGc1U32iwCbYKRKax02tjKLjaf7x9pMHVCeiSqYNzqQp2Bk1JUtTrf330wfxjNh4_h5GX8NEwnoSQ0acJElLiAMUNRTPKYFQUrcV5gSVCiclrkMcWCMhjzUvKcKBThJC9Z-X0iBEkfXO_Srp19a31_2UrXUlWVMMq2dcYxxijGceTlzb8SMZwwRilmnl4d0KVtnfHfyFDiZ8U5T7alL_eqzVeqyNZOr4TbZD8j9OB2B6Szde1U-UsQzLb7yfb7yWapx_AAS92IRlvTOKGrv0K-ALFxkI4 |
| CitedBy_id | crossref_primary_10_1097_RLU_0000000000000775 crossref_primary_10_1097_MED_0b013e32835af23e crossref_primary_10_1016_j_pathol_2018_10_014 |
| Cites_doi | 10.1126/science.1186802 10.1038/ng.499 10.1038/nature09327 |
| ContentType | Journal Article |
| Copyright | Copyright Allen Press Publishing Services Jan/Feb 2012 |
| Copyright_xml | – notice: Copyright Allen Press Publishing Services Jan/Feb 2012 |
| DBID | AAYXX CITATION CGR CUY CVF ECM EIF NPM 3V. 7RV 7X7 7XB 88C 88E 8FI 8FJ 8FK ABUWG AFKRA AZQEC BENPR CCPQU FYUFA GHDGH K9- K9. KB0 M0R M0S M0T M1P NAPCQ PHGZM PHGZT PJZUB PKEHL PPXIY PQEST PQQKQ PQUKI PRINS 8FD FR3 P64 RC3 7X8 |
| DOI | 10.4158/EP11364.RA |
| DatabaseName | CrossRef Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed ProQuest Central (Corporate) Nursing & Allied Health Database Health & Medical Collection ProQuest Central (purchase pre-March 2016) Healthcare Administration Database (Alumni) Medical Database (Alumni Edition) Hospital Premium Collection Hospital Premium Collection (Alumni Edition) ProQuest Central (Alumni) (purchase pre-March 2016) ProQuest Central (Alumni) ProQuest Central UK/Ireland ProQuest Central Essentials - QC ProQuest Central ProQuest One Community College Health Research Premium Collection Health Research Premium Collection (Alumni) Consumer Health Database ProQuest Health & Medical Complete (Alumni) Nursing & Allied Health Database (Alumni Edition) Consumer Health Database ProQuest Health & Medical Collection Healthcare Administration Database Medical Database Nursing & Allied Health Premium ProQuest Central Premium ProQuest One Academic (New) ProQuest Health & Medical Research Collection ProQuest One Academic Middle East (New) ProQuest One Health & Nursing ProQuest One Academic Eastern Edition (DO NOT USE) ProQuest One Academic (retired) ProQuest One Academic UKI Edition ProQuest Central China Technology Research Database Engineering Research Database Biotechnology and BioEngineering Abstracts Genetics Abstracts MEDLINE - Academic |
| DatabaseTitle | CrossRef MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) ProQuest One Academic Middle East (New) ProQuest Central Essentials ProQuest Health & Medical Complete (Alumni) ProQuest Central (Alumni Edition) ProQuest One Community College ProQuest One Health & Nursing ProQuest Family Health (Alumni Edition) ProQuest Central China ProQuest Central ProQuest Health & Medical Research Collection Health Research Premium Collection Health and Medicine Complete (Alumni Edition) Health & Medical Research Collection ProQuest Central (New) ProQuest Medical Library (Alumni) ProQuest Family Health ProQuest One Academic Eastern Edition ProQuest Health Management ProQuest Nursing & Allied Health Source ProQuest Hospital Collection Health Research Premium Collection (Alumni) ProQuest Hospital Collection (Alumni) Nursing & Allied Health Premium ProQuest Health & Medical Complete ProQuest Medical Library ProQuest One Academic UKI Edition ProQuest Health Management (Alumni Edition) ProQuest Nursing & Allied Health Source (Alumni) ProQuest One Academic ProQuest One Academic (New) ProQuest Central (Alumni) Genetics Abstracts Engineering Research Database Technology Research Database Biotechnology and BioEngineering Abstracts MEDLINE - Academic |
| DatabaseTitleList | Genetics Abstracts ProQuest One Academic Middle East (New) MEDLINE MEDLINE - Academic |
| Database_xml | – sequence: 1 dbid: NPM name: PubMed url: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: 7RV name: Nursing & Allied Health Database url: https://search.proquest.com/nahs sourceTypes: Aggregation Database |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Medicine |
| EISSN | 1934-2403 |
| EndPage | 89 |
| ExternalDocumentID | 3764277741 22336444 10_4158_EP11364_RA |
| Genre | Journal Article Review Feature |
| GroupedDBID | --- 0R~ 4.4 53G 5GY 7RV 7X7 88E 8FI 8FJ AALRI AAQQT AAXUO AAYXX ABJNI ABUWG ADBBV AENEX AFFHD AFJKZ AFKRA AHMBA AITUG ALMA_UNASSIGNED_HOLDINGS AMRAJ APXCP AQUVI AZQEC BENPR BKEYQ BKNYI BPHCQ BVXVI CCPQU CITATION EBS EFKBS EJD F5P FDB FYUFA HMCUK K9- M0R M0T M1P MAS MCE MET NAPCQ OVD P2P PHGZM PHGZT PJZUB PPXIY PQQKQ PROAC PSQYO ROL TEORI UKHRP AGCQF ALIPV CGR CUY CVF ECM EIF NPM 3V. 7XB 8FK K9. PKEHL PQEST PQUKI PRINS 8FD FR3 P64 PUEGO RC3 7X8 |
| ID | FETCH-LOGICAL-c347t-7af2d0681563b68dd8f2bd2c317eb4db642a48069fc9b3e1527bf8fbf8fb5103 |
| IEDL.DBID | BENPR |
| ISICitedReferencesCount | 5 |
| ISICitedReferencesURI | http://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=Summon&SrcAuth=ProQuest&DestLinkType=CitingArticles&DestApp=WOS_CPL&KeyUT=000300805400012&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D |
| ISSN | 1530-891X 1934-2403 |
| IngestDate | Thu Oct 02 11:06:22 EDT 2025 Sun Sep 28 09:34:41 EDT 2025 Sat Nov 29 15:07:37 EST 2025 Mon Jul 21 06:08:34 EDT 2025 Tue Nov 18 21:57:34 EST 2025 Wed Oct 29 21:15:18 EDT 2025 |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 1 |
| Language | English |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c347t-7af2d0681563b68dd8f2bd2c317eb4db642a48069fc9b3e1527bf8fbf8fb5103 |
| Notes | SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 14 ObjectType-Article-1 ObjectType-Feature-2 content type line 23 ObjectType-Review-3 |
| PMID | 22336444 |
| PQID | 1700299970 |
| PQPubID | 1896353 |
| PageCount | 5 |
| ParticipantIDs | proquest_miscellaneous_922216265 proquest_miscellaneous_1827884428 proquest_journals_1700299970 pubmed_primary_22336444 crossref_primary_10_4158_EP11364_RA crossref_citationtrail_10_4158_EP11364_RA |
| PublicationCentury | 2000 |
| PublicationDate | 2012-01-00 2012 Jan-Feb 20120101 |
| PublicationDateYYYYMMDD | 2012-01-01 |
| PublicationDate_xml | – month: 01 year: 2012 text: 2012-01-00 |
| PublicationDecade | 2010 |
| PublicationPlace | United States |
| PublicationPlace_xml | – name: United States – name: Jacksonville |
| PublicationTitle | Endocrine practice |
| PublicationTitleAlternate | Endocr Pract |
| PublicationYear | 2012 |
| Publisher | Elsevier Limited |
| Publisher_xml | – name: Elsevier Limited |
| References | Bilgüvar (10.4158/EP11364.RA_bb0015) 2010; 467 Roach (10.4158/EP11364.RA_bb0020) 2010; 328 Ng (10.4158/EP11364.RA_bb0010) 2010; 42 |
| References_xml | – volume: 328 start-page: 636 year: 2010 ident: 10.4158/EP11364.RA_bb0020 article-title: Analysis of genetic inheritance in a family quartet by whole-genome sequencing publication-title: Science doi: 10.1126/science.1186802 – volume: 42 start-page: 30 year: 2010 ident: 10.4158/EP11364.RA_bb0010 article-title: Exome sequencing identifies the cause of a mendelian disorder publication-title: Nature Genet doi: 10.1038/ng.499 – volume: 467 start-page: 207 year: 2010 ident: 10.4158/EP11364.RA_bb0015 article-title: Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations publication-title: Nature doi: 10.1038/nature09327 |
| SSID | ssj0020918 |
| Score | 1.9728385 |
| SecondaryResourceType | review_article |
| Snippet | To discuss the factors to consider when evaluating patients with a suspected genetic endocrine disorder, so as to guide practicing endocrinologists through the... This study discusses the factors to consider when evaluating patients with a suspected genetic endocrine disorder, so as to guide practicing endocrinologists... |
| SourceID | proquest pubmed crossref |
| SourceType | Aggregation Database Index Database Enrichment Source |
| StartPage | 85 |
| SubjectTerms | Diabetes Mellitus, Type 2 - complications Endocrine System Diseases - diagnosis Endocrine System Diseases - economics Endocrine System Diseases - genetics Endocrine System Diseases - psychology Endocrinology - economics Endocrinology - methods Exons - genetics Genetic Testing - economics Genetic Testing - methods Humans Multiple Endocrine Neoplasia Type 1 - genetics |
| Title | Molecular Genetic Testing in Endocrinology—A Practical Guide |
| URI | https://www.ncbi.nlm.nih.gov/pubmed/22336444 https://www.proquest.com/docview/1700299970 https://www.proquest.com/docview/1827884428 https://www.proquest.com/docview/922216265 |
| Volume | 18 |
| WOSCitedRecordID | wos000300805400012&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| journalDatabaseRights | – providerCode: PRVPQU databaseName: Consumer Health Database customDbUrl: eissn: 1934-2403 dateEnd: 20201231 omitProxy: false ssIdentifier: ssj0020918 issn: 1530-891X databaseCode: M0R dateStart: 19950101 isFulltext: true titleUrlDefault: https://search.proquest.com/familyhealth providerName: ProQuest – providerCode: PRVPQU databaseName: Health & Medical Collection customDbUrl: eissn: 1934-2403 dateEnd: 20201231 omitProxy: false ssIdentifier: ssj0020918 issn: 1530-891X databaseCode: 7X7 dateStart: 19950101 isFulltext: true titleUrlDefault: https://search.proquest.com/healthcomplete providerName: ProQuest – providerCode: PRVPQU databaseName: Healthcare Administration Database customDbUrl: eissn: 1934-2403 dateEnd: 20201231 omitProxy: false ssIdentifier: ssj0020918 issn: 1530-891X databaseCode: M0T dateStart: 19950101 isFulltext: true titleUrlDefault: https://search.proquest.com/healthmanagement providerName: ProQuest – providerCode: PRVPQU databaseName: Nursing & Allied Health Database customDbUrl: eissn: 1934-2403 dateEnd: 20201231 omitProxy: false ssIdentifier: ssj0020918 issn: 1530-891X databaseCode: 7RV dateStart: 19950101 isFulltext: true titleUrlDefault: https://search.proquest.com/nahs providerName: ProQuest – providerCode: PRVPQU databaseName: ProQuest Central customDbUrl: eissn: 1934-2403 dateEnd: 20201231 omitProxy: false ssIdentifier: ssj0020918 issn: 1530-891X databaseCode: BENPR dateStart: 19950101 isFulltext: true titleUrlDefault: https://www.proquest.com/central providerName: ProQuest |
| link | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwpV1ba9RAFD7YrUhf6l2jtUT0xYex6ewkmQFBYprWwG66xFT2LWRuUJDdtrv193smmV0RrC8-ZCDkQIYzM-c6fB_Ae9FxqtHuEed9CUs6RjgzKbFa0E5zaygdyCbSquLzuZj5gtvKX6vc2MTeUOulcjXyI4cjh6ZTpNHnq2viWKNcd9VTaOzArkMqYyPY_VJUs3qbcqE35ANiakS4OJ4PAKXotPhRMXN0Juxjnf3pku6IM3t_c_rwf2f6CPZ9pBlmw9Z4DPfM4gk8mPpe-lP4ND2fFPnFJKtDd3-tKfOwKb41ZXUWllVYVCfneV1WfZ-JZOGsdtdN8mwSnl2UJ8UzaE6LJv9KPJcCUWOWrknaWaqjxGHDjGXCNS4DlZoqDB-MZFpiGtIxHiXCKiHHxpHdSstt_zjQvecwWiwX5iWEsRFMoVmKY6VYktgujnTK5ZhLK6xULIAPG222yuOMO7qLHy3mG07zrdd8W2cBvNvKXg3oGn-VOtgouvUnbNX-1nIAb7ef8Wy4hke3MMtblOEUM3yGGVYA4R0yAgOkY8zq4gBeDOu9nQlGTjgBxl79-_-vYQ-jKDrUZQ5gtL65NW_gvvq5vlzdHMJOWn934zztR37o9yi-TaNhbH4B6SPnMg |
| linkProvider | ProQuest |
| linkToHtml | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMw1V1Lb9NAEB6VgoALzwKGAouAA4dt3c3a3pVAyErc1mriRsaVcrPsfUhIKClN2oofxX9k1o8gJMqtBw4-eWSPPLPz2B1_H8A7WQmmMe5Rl30pDytOBTcRtVqySgtrGGvJJqIsE7OZnG7Az_5fGDdW2cfEJlDrhXJ75LsORw5Dp4z8z6ffqWONcqerPYVG6xZH5scltmzLT-kI7fuesf2kGB7SjlWAqgGPVjSqLNN-6FBSBnUoNCrEas0UJlJTc11jQV5x4YfSKlkPjKN9ra2wzeXg5_CxN-Cmg9VzE4QTv1j3d5h6RQvP6lMh92YtGipmSLGbTB13Ct_J4z_z3xVFbZPc9u__Z5_lAdzrqmgSt27_EDbM_BHcnnRzAo_h4-R4nAxPxnFO3GxekQ5JkXwp0uyApBlJstHxME-z5gyNxmSau1EaVJIcnKSjZAuK61D9CWzOF3PzDEhgJFcYcoNAKR6Gtgp8HYl6IGorba24Bx9645Wqw1B3VB7fSuylnKHLztBlHnvwdi172iKH_FVqu7dr2UWPZfnbqB68Wd_Gde8Oc6q5WZyjjGCREBy7Rw_IFTISi7897FgDD5627rXWBKtCVIDz5_9-_2u4c1hMxuU4zY5ewF2sFlm7_7QNm6uzc_MSbqmL1dfl2atmKRAor9nHfgEBPD5y |
| linkToPdf | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMw1V1Lb9QwEB6VgiouvKGBAkbAgYO7qddJbAmEot1sibpNVyGV9hbFji0hVbuluwXx0_h3jPNYhES59cAhl2SUjDKTediT7wN4IyvBaox71GVfysOKU8FNRG0tWVULaxhrySaiLBPzuZxtwc_-Xxg3VtnHxCZQ10vt1sgHDkcOQ6eM_IHtxiJm48nH86_UMUi5ndaeTqN1kSPz4zu2b6sP6Rht_ZaxSVKMPtGOYYDqIY_WNKosq_3QIaYMVShqVI6pmmlMqkbxWmFxXnHhh9JqqYbGUcAqK2xzOCg6vO0NuBlxPO-mBv1i0-thGhYtVKtPhTyYt8iomC3FIJk5HhW-n8d_5sIrCtwm0U3u_sev6B7c6aprErefw33YMosHsHPczQ88hPfHJ9NkdDqNc-Jm9op0RIrkc5FmhyTNSJKNT0Z5mjV7azQms9yN2KCS5PA0HSePoLgO1R_D9mK5MLtAAiO5xlAcBFrzMLRV4NeRUEOhrLRKcw_e9YYsdYet7ig-zkrssZzRy87oZR578Hoje94iivxVaq-3cdlFlVX528AevNpcxnjgNnmqhVleooxgkRAcu0oPyBUyEovCA-xkAw-etK620QSrRVSA86f_fv5L2EHXKqdpdvQMbmMRydplqT3YXl9cmudwS39bf1ldvGi-CgLlNbvYL7pkRzg |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Molecular+Genetic+Testing+in+Endocrinology%E2%80%94A+Practical+Guide&rft.jtitle=Endocrine+practice&rft.au=Kirmani%2C+Salman&rft.date=2012-01-01&rft.issn=1530-891X&rft.volume=18&rft.issue=1&rft.spage=85&rft.epage=89&rft_id=info:doi/10.4158%2FEP11364.RA&rft.externalDBID=n%2Fa&rft.externalDocID=10_4158_EP11364_RA |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1530-891X&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1530-891X&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1530-891X&client=summon |