Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome
Gespeichert in:
| Veröffentlicht in: | The Journal of pediatrics 2011-08, Vol.159 (2), p.332-339.e1 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 339.e1 |
|---|---|
| container_issue | 2 |
| container_start_page | 332 |
| container_title | The Journal of pediatrics |
| container_volume | 159 |
| creator | Bassett, Anne S., MD McDonald-McGinn, Donna M., MS, CGC Devriendt, Koen, MD Digilio, Maria Cristina, MD Goldenberg, Paula, MD, MSW Habel, Alex, MD Marino, Bruno, MD Oskarsdottir, Solveig, MD, PhD Philip, Nicole, MD Sullivan, Kathleen, MD, PhD Swillen, Ann, PhD Vorstman, Jacob, MD, PhD |
| description | |
| doi_str_mv | 10.1016/j.jpeds.2011.02.039 |
| format | Article |
| fullrecord | <record><control><sourceid>pubmed_cross</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3197829</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>1_s2_0_S0022347611002447</els_id><sourcerecordid>21570089</sourcerecordid><originalsourceid>FETCH-LOGICAL-c543t-84906059af537f2b0a09472167a357966549764a84222d9f8b8a470f42ef93d43</originalsourceid><addsrcrecordid>eNqFkltP3DAQha2qqCzQX1CpyksfE8aX2PEDSBUtFwkEEu2z5XXsxWnW2dpZqv33dVhu7QtPHsnnzBx9Mwh9wlBhwPywq7qVbVNFAOMKSAVUvkMzDFKUvKH0PZoBEFJSJvgu2kupAwDJAD6gXYJrAdDIGbq4idqM3ui-OFv71vY-2FS4IRZXOuiFD4viRo_ehjEVf_x4VxDyO48jxTfb29EPobjdhDYOS3uAdpzuk_34-O6jn6fff5ycl5fXZxcnXy9LUzM6lg2TwKGW2tVUODIHnUMJgrnQtBaS85pJwZluGCGkla6ZN5oJcIxYJ2nL6D463vZdredL25ocLeperaJf6rhRg_bq35_g79RiuFcUS9EQmRvQbQMTh5Sidc9eDGoiqzr1QFZNZBUQlclm1-fXY589Tyiz4MujQKeM00UdjE8vOkZlLfikO9rqbIZ0721UyWS-xrY-WjOqdvBvBDn-z2_y0qYN_rIbm7phHUPmr7BK2aBupyOYbgDjXDEm6F_0y6t2</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome</title><source>MEDLINE</source><source>Elsevier ScienceDirect Journals</source><creator>Bassett, Anne S., MD ; McDonald-McGinn, Donna M., MS, CGC ; Devriendt, Koen, MD ; Digilio, Maria Cristina, MD ; Goldenberg, Paula, MD, MSW ; Habel, Alex, MD ; Marino, Bruno, MD ; Oskarsdottir, Solveig, MD, PhD ; Philip, Nicole, MD ; Sullivan, Kathleen, MD, PhD ; Swillen, Ann, PhD ; Vorstman, Jacob, MD, PhD</creator><creatorcontrib>Bassett, Anne S., MD ; McDonald-McGinn, Donna M., MS, CGC ; Devriendt, Koen, MD ; Digilio, Maria Cristina, MD ; Goldenberg, Paula, MD, MSW ; Habel, Alex, MD ; Marino, Bruno, MD ; Oskarsdottir, Solveig, MD, PhD ; Philip, Nicole, MD ; Sullivan, Kathleen, MD, PhD ; Swillen, Ann, PhD ; Vorstman, Jacob, MD, PhD ; The International 22q11.2 Deletion Syndrome Consortium ; International 22q11.2 Deletion Syndrome Consortium</creatorcontrib><identifier>ISSN: 0022-3476</identifier><identifier>EISSN: 1097-6833</identifier><identifier>DOI: 10.1016/j.jpeds.2011.02.039</identifier><identifier>PMID: 21570089</identifier><identifier>CODEN: JOPDAB</identifier><language>eng</language><publisher>Maryland Heights, MO: Elsevier Inc</publisher><subject>Biological and medical sciences ; Child ; Chromosome Deletion ; Chromosomes, Human, Pair 22 - genetics ; DiGeorge Syndrome - diagnosis ; DiGeorge Syndrome - genetics ; DiGeorge Syndrome - therapy ; General aspects ; Genetic Counseling - standards ; Genetic Techniques - standards ; Humans ; Male ; Medical sciences ; Pediatrics ; Practice Guidelines as Topic</subject><ispartof>The Journal of pediatrics, 2011-08, Vol.159 (2), p.332-339.e1</ispartof><rights>Mosby, Inc.</rights><rights>2011 Mosby, Inc.</rights><rights>2015 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c543t-84906059af537f2b0a09472167a357966549764a84222d9f8b8a470f42ef93d43</citedby><cites>FETCH-LOGICAL-c543t-84906059af537f2b0a09472167a357966549764a84222d9f8b8a470f42ef93d43</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0022347611002447$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>230,314,776,780,881,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=24395769$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21570089$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bassett, Anne S., MD</creatorcontrib><creatorcontrib>McDonald-McGinn, Donna M., MS, CGC</creatorcontrib><creatorcontrib>Devriendt, Koen, MD</creatorcontrib><creatorcontrib>Digilio, Maria Cristina, MD</creatorcontrib><creatorcontrib>Goldenberg, Paula, MD, MSW</creatorcontrib><creatorcontrib>Habel, Alex, MD</creatorcontrib><creatorcontrib>Marino, Bruno, MD</creatorcontrib><creatorcontrib>Oskarsdottir, Solveig, MD, PhD</creatorcontrib><creatorcontrib>Philip, Nicole, MD</creatorcontrib><creatorcontrib>Sullivan, Kathleen, MD, PhD</creatorcontrib><creatorcontrib>Swillen, Ann, PhD</creatorcontrib><creatorcontrib>Vorstman, Jacob, MD, PhD</creatorcontrib><creatorcontrib>The International 22q11.2 Deletion Syndrome Consortium</creatorcontrib><creatorcontrib>International 22q11.2 Deletion Syndrome Consortium</creatorcontrib><title>Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome</title><title>The Journal of pediatrics</title><addtitle>J Pediatr</addtitle><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Chromosome Deletion</subject><subject>Chromosomes, Human, Pair 22 - genetics</subject><subject>DiGeorge Syndrome - diagnosis</subject><subject>DiGeorge Syndrome - genetics</subject><subject>DiGeorge Syndrome - therapy</subject><subject>General aspects</subject><subject>Genetic Counseling - standards</subject><subject>Genetic Techniques - standards</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Pediatrics</subject><subject>Practice Guidelines as Topic</subject><issn>0022-3476</issn><issn>1097-6833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkltP3DAQha2qqCzQX1CpyksfE8aX2PEDSBUtFwkEEu2z5XXsxWnW2dpZqv33dVhu7QtPHsnnzBx9Mwh9wlBhwPywq7qVbVNFAOMKSAVUvkMzDFKUvKH0PZoBEFJSJvgu2kupAwDJAD6gXYJrAdDIGbq4idqM3ui-OFv71vY-2FS4IRZXOuiFD4viRo_ehjEVf_x4VxDyO48jxTfb29EPobjdhDYOS3uAdpzuk_34-O6jn6fff5ycl5fXZxcnXy9LUzM6lg2TwKGW2tVUODIHnUMJgrnQtBaS85pJwZluGCGkla6ZN5oJcIxYJ2nL6D463vZdredL25ocLeperaJf6rhRg_bq35_g79RiuFcUS9EQmRvQbQMTh5Sidc9eDGoiqzr1QFZNZBUQlclm1-fXY589Tyiz4MujQKeM00UdjE8vOkZlLfikO9rqbIZ0721UyWS-xrY-WjOqdvBvBDn-z2_y0qYN_rIbm7phHUPmr7BK2aBupyOYbgDjXDEm6F_0y6t2</recordid><startdate>20110801</startdate><enddate>20110801</enddate><creator>Bassett, Anne S., MD</creator><creator>McDonald-McGinn, Donna M., MS, CGC</creator><creator>Devriendt, Koen, MD</creator><creator>Digilio, Maria Cristina, MD</creator><creator>Goldenberg, Paula, MD, MSW</creator><creator>Habel, Alex, MD</creator><creator>Marino, Bruno, MD</creator><creator>Oskarsdottir, Solveig, MD, PhD</creator><creator>Philip, Nicole, MD</creator><creator>Sullivan, Kathleen, MD, PhD</creator><creator>Swillen, Ann, PhD</creator><creator>Vorstman, Jacob, MD, PhD</creator><general>Elsevier Inc</general><general>Elsevier</general><scope>6I.</scope><scope>AAFTH</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>5PM</scope></search><sort><creationdate>20110801</creationdate><title>Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome</title><author>Bassett, Anne S., MD ; McDonald-McGinn, Donna M., MS, CGC ; Devriendt, Koen, MD ; Digilio, Maria Cristina, MD ; Goldenberg, Paula, MD, MSW ; Habel, Alex, MD ; Marino, Bruno, MD ; Oskarsdottir, Solveig, MD, PhD ; Philip, Nicole, MD ; Sullivan, Kathleen, MD, PhD ; Swillen, Ann, PhD ; Vorstman, Jacob, MD, PhD</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c543t-84906059af537f2b0a09472167a357966549764a84222d9f8b8a470f42ef93d43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Chromosome Deletion</topic><topic>Chromosomes, Human, Pair 22 - genetics</topic><topic>DiGeorge Syndrome - diagnosis</topic><topic>DiGeorge Syndrome - genetics</topic><topic>DiGeorge Syndrome - therapy</topic><topic>General aspects</topic><topic>Genetic Counseling - standards</topic><topic>Genetic Techniques - standards</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Pediatrics</topic><topic>Practice Guidelines as Topic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bassett, Anne S., MD</creatorcontrib><creatorcontrib>McDonald-McGinn, Donna M., MS, CGC</creatorcontrib><creatorcontrib>Devriendt, Koen, MD</creatorcontrib><creatorcontrib>Digilio, Maria Cristina, MD</creatorcontrib><creatorcontrib>Goldenberg, Paula, MD, MSW</creatorcontrib><creatorcontrib>Habel, Alex, MD</creatorcontrib><creatorcontrib>Marino, Bruno, MD</creatorcontrib><creatorcontrib>Oskarsdottir, Solveig, MD, PhD</creatorcontrib><creatorcontrib>Philip, Nicole, MD</creatorcontrib><creatorcontrib>Sullivan, Kathleen, MD, PhD</creatorcontrib><creatorcontrib>Swillen, Ann, PhD</creatorcontrib><creatorcontrib>Vorstman, Jacob, MD, PhD</creatorcontrib><creatorcontrib>The International 22q11.2 Deletion Syndrome Consortium</creatorcontrib><creatorcontrib>International 22q11.2 Deletion Syndrome Consortium</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>The Journal of pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bassett, Anne S., MD</au><au>McDonald-McGinn, Donna M., MS, CGC</au><au>Devriendt, Koen, MD</au><au>Digilio, Maria Cristina, MD</au><au>Goldenberg, Paula, MD, MSW</au><au>Habel, Alex, MD</au><au>Marino, Bruno, MD</au><au>Oskarsdottir, Solveig, MD, PhD</au><au>Philip, Nicole, MD</au><au>Sullivan, Kathleen, MD, PhD</au><au>Swillen, Ann, PhD</au><au>Vorstman, Jacob, MD, PhD</au><aucorp>The International 22q11.2 Deletion Syndrome Consortium</aucorp><aucorp>International 22q11.2 Deletion Syndrome Consortium</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome</atitle><jtitle>The Journal of pediatrics</jtitle><addtitle>J Pediatr</addtitle><date>2011-08-01</date><risdate>2011</risdate><volume>159</volume><issue>2</issue><spage>332</spage><epage>339.e1</epage><pages>332-339.e1</pages><issn>0022-3476</issn><eissn>1097-6833</eissn><coden>JOPDAB</coden><cop>Maryland Heights, MO</cop><pub>Elsevier Inc</pub><pmid>21570089</pmid><doi>10.1016/j.jpeds.2011.02.039</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0022-3476 |
| ispartof | The Journal of pediatrics, 2011-08, Vol.159 (2), p.332-339.e1 |
| issn | 0022-3476 1097-6833 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3197829 |
| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Biological and medical sciences Child Chromosome Deletion Chromosomes, Human, Pair 22 - genetics DiGeorge Syndrome - diagnosis DiGeorge Syndrome - genetics DiGeorge Syndrome - therapy General aspects Genetic Counseling - standards Genetic Techniques - standards Humans Male Medical sciences Pediatrics Practice Guidelines as Topic |
| title | Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-31T23%3A23%3A17IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-pubmed_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Practical%20Guidelines%20for%20Managing%20Patients%20with%2022q11.2%20Deletion%20Syndrome&rft.jtitle=The%20Journal%20of%20pediatrics&rft.au=Bassett,%20Anne%20S.,%20MD&rft.aucorp=The%20International%2022q11.2%20Deletion%20Syndrome%20Consortium&rft.date=2011-08-01&rft.volume=159&rft.issue=2&rft.spage=332&rft.epage=339.e1&rft.pages=332-339.e1&rft.issn=0022-3476&rft.eissn=1097-6833&rft.coden=JOPDAB&rft_id=info:doi/10.1016/j.jpeds.2011.02.039&rft_dat=%3Cpubmed_cross%3E21570089%3C/pubmed_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_id=info:pmid/21570089&rft_els_id=1_s2_0_S0022347611002447&rfr_iscdi=true |