Early fetal death associated with compound heterozygosity for Noonan syndrome‐causative PTPN11 mutations
Identifieur interne : 002B44 ( Istex/Corpus ); précédent : 002B43; suivant : 002B45Early fetal death associated with compound heterozygosity for Noonan syndrome‐causative PTPN11 mutations
Auteurs : Kristin Becker ; Helen Hughes ; Karol Howard ; Maggie Armstrong ; Devender Roberts ; Edgar J. Lazda ; John P. Short ; Adam Shaw ; Michael A. Patton ; Marco TartagliaSource :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2007-06-01.
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DOI: 10.1002/ajmg.a.31738
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ISTEX:5D0222BFBCAA90C25456ECCC421C78BD5F1D132FLe document en format XML
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xml:id="author-0000" role="corresp"><persName><forename type="first">Kristin</forename><surname>Becker</surname></persName><email>Kristin.Becker@cd‐tr.wales.nhs.uk</email><affiliation>North Wales Clinical Genetics Service, Glan Clwyd Hospital, Rhyl, UK<address><country key="GB"></country></address></affiliation><affiliation>Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK<address><country key="GB"></country></address></affiliation><affiliation>North Wales Clinical Genetics Service, Block 12, Glan Clwyd Hospital, Bodelwyddan, Rhyl, Denbighshire LL18 5UJ, UK.</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Helen</forename><surname>Hughes</surname></persName><affiliation>North Wales Clinical Genetics Service, Glan Clwyd Hospital, Rhyl, UK<address><country key="GB"></country></address></affiliation><affiliation>Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK<address><country 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MUTATIONS</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2" corresponding="yes"><personName><givenNames>Kristin</givenNames><familyName>Becker</familyName></personName><contactDetails><email normalForm="Kristin.Becker@cd-tr.wales.nhs.uk">Kristin.Becker@cd‐tr.wales.nhs.uk</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Helen</givenNames><familyName>Hughes</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Karol</givenNames><familyName>Howard</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Maggie</givenNames><familyName>Armstrong</familyName></personName></creator><creator xml:id="au5" creatorRole="author" 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countryCode="GB" type="organization"><unparsedAffiliation>North Wales Clinical Genetics Service, Glan Clwyd Hospital, Rhyl, UK</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="GB" type="organization"><unparsedAffiliation>Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="GB" type="organization"><unparsedAffiliation>Department of Obstetrics and Gynaecology, Glan Clwyd Hospital, Rhyl, UK</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="GB" type="organization"><unparsedAffiliation>Fetal Centre, Liverpool Women's Hospital, Liverpool, UK</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="GB" type="organization"><unparsedAffiliation>Department of Medical Genetics, St. George's Hospital Medical School, London, UK</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="IT" type="organization"><unparsedAffiliation>Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanità, Rome, Italy</unparsedAffiliation></affiliation></affiliationGroup><fundingInfo><fundingAgency>Telethon‐Italy</fundingAgency><fundingNumber>GGP04172</fundingNumber></fundingInfo><fundingInfo><fundingAgency>BDF Newlife UK</fundingAgency></fundingInfo></contentMeta><noteGroup><note xml:id="fn1"><p>How to cite this article: Becker K, Hughes H, Howard K, Armstrong M, Roberts D, Lazda EJ, Short JP, Shaw A, Patton MA, Tartaglia M. 2007. Early fetal death associated with compound heterozygosity for Noonan syndrome‐causative <i>PTPN11</i> mutations. Am J Med Genet Part A 143A:1249–1252.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Early fetal death associated with compound heterozygosity for Noonan syndrome‐causative PTPN11 mutations</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>COMPOUND HETEROZYGOSITY FOR PTPN11 MUTATIONS</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Early fetal death associated with compound heterozygosity for Noonan syndrome‐causative PTPN11 mutations</title></titleInfo><name type="personal"><namePart type="given">Kristin</namePart><namePart type="family">Becker</namePart><affiliation>North Wales Clinical Genetics Service, Glan Clwyd Hospital, Rhyl, UK</affiliation><affiliation>Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK</affiliation><affiliation>North Wales Clinical Genetics Service, Block 12, Glan Clwyd Hospital, Bodelwyddan, Rhyl, Denbighshire LL18 5UJ, UK.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Helen</namePart><namePart type="family">Hughes</namePart><affiliation>North Wales Clinical Genetics Service, Glan Clwyd Hospital, Rhyl, UK</affiliation><affiliation>Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Karol</namePart><namePart type="family">Howard</namePart><affiliation>North Wales Clinical Genetics Service, Glan Clwyd Hospital, Rhyl, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Maggie</namePart><namePart type="family">Armstrong</namePart><affiliation>Department of Obstetrics and Gynaecology, Glan Clwyd Hospital, Rhyl, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Devender</namePart><namePart type="family">Roberts</namePart><affiliation>Fetal Centre, Liverpool Women's Hospital, Liverpool, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Edgar J.</namePart><namePart type="family">Lazda</namePart><affiliation>Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John P.</namePart><namePart type="family">Short</namePart><affiliation>Department of Medical Genetics, St. George's Hospital Medical School, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Adam</namePart><namePart type="family">Shaw</namePart><affiliation>Department of Medical Genetics, St. George's Hospital Medical School, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Michael A.</namePart><namePart type="family">Patton</namePart><affiliation>Department of Medical Genetics, St. George's Hospital Medical School, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marco</namePart><namePart type="family">Tartaglia</namePart><affiliation>Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanità, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="review-article" displayLabel="letter"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2007-06-01</dateIssued><dateCaptured encoding="w3cdtf">2006-12-15</dateCaptured><dateValid encoding="w3cdtf">2007-01-28</dateValid><copyrightDate encoding="w3cdtf">2007</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="references">35</extent><extent unit="words">2566</extent></physicalDescription><note type="content">*How to cite this article: Becker K, Hughes H, Howard K, Armstrong M, Roberts D, Lazda EJ, Short JP, Shaw A, Patton MA, Tartaglia M. 2007. Early fetal death associated with compound heterozygosity for Noonan syndrome‐causative PTPN11 mutations. Am J Med Genet Part A 143A:1249–1252.</note><note type="funding">Telethon‐Italy - No. GGP04172; </note><note type="funding">BDF Newlife UK</note><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics Part A</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. Genet.</title></titleInfo><genre type="journal">journal</genre><subject><genre>article-category</genre><topic>Research Letter</topic></subject><identifier type="ISSN">1552-4825</identifier><identifier type="eISSN">1552-4833</identifier><identifier type="DOI">10.1002/(ISSN)1552-4833</identifier><identifier type="PublisherID">AJMG</identifier><part><date>2007</date><detail type="volume"><caption>vol.</caption><number>143A</number></detail><detail type="issue"><caption>no.</caption><number>11</number></detail><extent unit="pages"><start>1249</start><end>1252</end><total>4</total></extent></part></relatedItem><relatedItem type="preceding"><titleInfo><title>American Journal of Medical Genetics</title></titleInfo><identifier type="ISSN">0148-7299</identifier><identifier type="ISSN">1096-8628</identifier><part><date point="end">2004</date></part></relatedItem><identifier type="istex">5D0222BFBCAA90C25456ECCC421C78BD5F1D132F</identifier><identifier type="DOI">10.1002/ajmg.a.31738</identifier><identifier type="ArticleID">AJMG31738</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2007 Wiley‐Liss, Inc.</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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