Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome
Identifieur interne : 001834 ( Istex/Corpus ); précédent : 001833; suivant : 001835Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome
Auteurs : J S Lee ; M. Tartaglia ; B D Gelb ; K. Fridrich ; S. Sachs ; C A Stratakis ; M. Muenke ; P G Robey ; M T Collins ; A. SlavotinekSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 2005-02.
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DOI: 10.1136/jmg.2004.024091
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ISTEX:347BAA2477809719D33A4F17A5785B1526303358Le document en format XML
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Tartaglia</name><affiliation><mods:affiliation>Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy</mods:affiliation></affiliation><affiliation><mods:affiliation>Departments of Pediatrics, Mount Sinai School of Medicine, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Gelb, B D" sort="Gelb, B D" uniqKey="Gelb B" first="B D" last="Gelb">B D Gelb</name><affiliation><mods:affiliation>Departments of Pediatrics, Mount Sinai School of Medicine, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Departments of Human Genetics, Mount Sinai School of Medicine, New York</mods:affiliation></affiliation></author><author><name sortKey="Fridrich, K" sort="Fridrich, K" uniqKey="Fridrich K" first="K" last="Fridrich">K. 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lesion</value></json:item></subject><language><json:string>eng</json:string></language><originalGenre><json:string>other</json:string></originalGenre><qualityIndicators><score>2.823</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 792 pts (letter)</pdfPageSize><refBibsNative>false</refBibsNative><keywordCount>10</keywordCount><abstractCharCount>0</abstractCharCount><pdfWordCount>2811</pdfWordCount><pdfCharCount>19866</pdfCharCount><pdfPageCount>5</pdfPageCount><abstractWordCount>1</abstractWordCount></qualityIndicators><title>Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome</title><pmid><json:string>15689434</json:string></pmid><genre><json:string>other</json:string></genre><host><title>Journal of Medical 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heredity</json:string></scienceMetrix></categories><publicationDate>2005</publicationDate><copyrightDate>2005</copyrightDate><doi><json:string>10.1136/jmg.2004.024091</json:string></doi><id>347BAA2477809719D33A4F17A5785B1526303358</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/347BAA2477809719D33A4F17A5785B1526303358/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/347BAA2477809719D33A4F17A5785B1526303358/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/347BAA2477809719D33A4F17A5785B1526303358/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>BMJ Publishing Group Ltd</publisher><availability><p>Copyright 2005 Journal of Medical Genetics</p></availability><date>2005-02-02</date></publicationStmt><notesStmt><note>Correspondence to:
Dr Janice S Lee
Department of Oral and Maxillofacial Surgery, UCSF, 521 Parnassus Avenue C522, San Francisco, CA 94143-0440, USA; jslee@itsa.ucsf.edu</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome</title><author xml:id="author-1"><persName><forename type="first">J S</forename><surname>Lee</surname></persName><affiliation>Craniofacial and Skeletal Diseases Branch, NIDCR/NIH/DHHS, Bethesda, Maryland, USA</affiliation></author><author xml:id="author-2"><persName><forename type="first">M</forename><surname>Tartaglia</surname></persName><affiliation>Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy</affiliation><affiliation>Departments of Pediatrics, Mount Sinai School of Medicine, New York, USA</affiliation></author><author xml:id="author-3"><persName><forename type="first">B D</forename><surname>Gelb</surname></persName><affiliation>Departments of Pediatrics, Mount Sinai School of Medicine, New York, USA</affiliation><affiliation>Departments of Human Genetics, Mount Sinai School of Medicine, New York</affiliation></author><author xml:id="author-4"><persName><forename type="first">K</forename><surname>Fridrich</surname></persName><affiliation>Department of Cell Biology (LHRRB), Harvard Medical School, Boston, Massachusetts, USA</affiliation></author><author xml:id="author-5"><persName><forename type="first">S</forename><surname>Sachs</surname></persName><affiliation>Department of Oral and Maxillofacial Surgery, State University of New York</affiliation></author><author xml:id="author-6"><persName><forename type="first">C A</forename><surname>Stratakis</surname></persName><affiliation>Developmental Endocrinology Branch, NICHD/NIH/DHHS</affiliation></author><author xml:id="author-7"><persName><forename 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subj-group-type="hwp-journal-coll"><subject>Calcium and bone</subject></subj-group></article-categories><title-group><article-title>Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome</article-title></title-group><contrib-group><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Lee</surname><given-names>J S</given-names></name><xref rid="AFF1">1</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Tartaglia</surname><given-names>M</given-names></name><xref rid="AFF2">2</xref><xref rid="AFF3">3</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Gelb</surname><given-names>B D</given-names></name><xref rid="AFF3">3</xref><xref rid="AFF4">4</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Fridrich</surname><given-names>K</given-names></name><xref rid="AFF5">5</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Sachs</surname><given-names>S</given-names></name><xref rid="AFF6">6</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Stratakis</surname><given-names>C A</given-names></name><xref rid="AFF7">7</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Muenke</surname><given-names>M</given-names></name><xref rid="AFF8">8</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Robey</surname><given-names>P G</given-names></name><xref rid="AFF1">1</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Collins</surname><given-names>M T</given-names></name><xref rid="AFF1">1</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Slavotinek</surname><given-names>A</given-names></name><xref rid="AFF8">8</xref><xref rid="FN1">*</xref></contrib><aff id="AFF1"><label>1</label>Craniofacial and Skeletal Diseases Branch, NIDCR/NIH/DHHS, Bethesda, Maryland, USA</aff><aff id="AFF2"><label>2</label>Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy</aff><aff id="AFF3"><label>3</label>Departments of Pediatrics, Mount Sinai School of Medicine, New York, USA</aff><aff id="AFF4"><label>4</label>Departments of Human Genetics, Mount Sinai School of Medicine, New York</aff><aff id="AFF5"><label>5</label>Department of Cell Biology (LHRRB), Harvard Medical School, Boston, Massachusetts, USA</aff><aff id="AFF6"><label>6</label>Department of Oral and Maxillofacial Surgery, State University of New York</aff><aff id="AFF7"><label>7</label>Developmental Endocrinology Branch, NICHD/NIH/DHHS</aff><aff id="AFF8"><label>8</label>Medical Genetics Branch, NHGRI/NIH/DHHS</aff></contrib-group><author-notes><corresp>Correspondence to:
Dr Janice S Lee
Department of Oral and Maxillofacial Surgery, UCSF, 521 Parnassus Avenue C522, San Francisco, CA 94143-0440, USA; <ext-link xlink:href="jsleeitsa.ucsf.edu" ext-link-type="email" xlink:type="simple">jslee@itsa.ucsf.edu</ext-link></corresp></author-notes><pub-date pub-type="ppub"><month>2</month><year>2005</year></pub-date><pub-date pub-type="epub"><day>2</day><month>2</month><year>2005</year></pub-date><volume>42</volume><volume-id pub-id-type="other">42</volume-id><volume-id pub-id-type="other">42</volume-id><issue>2</issue><issue-id pub-id-type="other">jmedgenet;42/2</issue-id><issue-id pub-id-type="other">2</issue-id><issue-id pub-id-type="other">42/2</issue-id><fpage>e11</fpage><permissions><copyright-statement>Copyright 2005 Journal of Medical Genetics</copyright-statement><copyright-year>2005</copyright-year></permissions><self-uri content-type="pdf" xlink:role="full-text" xlink:href="jmedgenet-42-e11.pdf"></self-uri><kwd-group kwd-group-type="ABR" xml:lang="en"><kwd>NL/MGCLS, Noonan-like/multiple giant cell lesion syndrome</kwd></kwd-group><kwd-group kwd-group-type="KWD" xml:lang="en"><kwd>Noonan’s syndrome</kwd><kwd>PTPN11</kwd><kwd>SH3BP2</kwd><kwd>giant cell lesion</kwd></kwd-group></article-meta></front></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome</title></titleInfo><titleInfo type="alternative" lang="en" contentType="CDATA"><title>Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome</title></titleInfo><name type="personal"><namePart type="given">J S</namePart><namePart type="family">Lee</namePart><affiliation>Craniofacial and Skeletal Diseases Branch, NIDCR/NIH/DHHS, Bethesda, Maryland, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M</namePart><namePart type="family">Tartaglia</namePart><affiliation>Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy</affiliation><affiliation>Departments of Pediatrics, Mount Sinai School of Medicine, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">B D</namePart><namePart type="family">Gelb</namePart><affiliation>Departments of Pediatrics, Mount Sinai School of Medicine, New York, USA</affiliation><affiliation>Departments of Human Genetics, Mount Sinai School of Medicine, New York</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">K</namePart><namePart type="family">Fridrich</namePart><affiliation>Department of Cell Biology (LHRRB), Harvard Medical School, Boston, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">S</namePart><namePart type="family">Sachs</namePart><affiliation>Department of Oral and Maxillofacial Surgery, State University of New York</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">C A</namePart><namePart type="family">Stratakis</namePart><affiliation>Developmental Endocrinology Branch, NICHD/NIH/DHHS</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M</namePart><namePart type="family">Muenke</namePart><affiliation>Medical Genetics Branch, NHGRI/NIH/DHHS</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">P G</namePart><namePart type="family">Robey</namePart><affiliation>Craniofacial and Skeletal Diseases Branch, NIDCR/NIH/DHHS, Bethesda, Maryland, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M T</namePart><namePart type="family">Collins</namePart><affiliation>Craniofacial and Skeletal Diseases Branch, NIDCR/NIH/DHHS, Bethesda, Maryland, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A</namePart><namePart type="family">Slavotinek</namePart><affiliation>Medical Genetics Branch, NHGRI/NIH/DHHS</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="other" displayLabel="other"></genre><subject><genre>hwp-journal-coll</genre><topic>Genetic screening / counselling</topic></subject><subject><genre>hwp-journal-coll</genre><topic>Molecular genetics</topic></subject><subject><genre>hwp-journal-coll</genre><topic>Congenital heart disease</topic></subject><subject><genre>hwp-journal-coll</genre><topic>Ethics</topic></subject><subject><genre>hwp-journal-coll</genre><topic>Calcium and bone</topic></subject><originInfo><publisher>BMJ Publishing Group Ltd</publisher><dateIssued encoding="w3cdtf">2005-02</dateIssued><dateCreated encoding="w3cdtf">2005-02-02</dateCreated><copyrightDate encoding="w3cdtf">2005</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><note type="author-notes">Correspondence to:
Dr Janice S Lee
Department of Oral and Maxillofacial Surgery, UCSF, 521 Parnassus Avenue C522, San Francisco, CA 94143-0440, USA; jslee@itsa.ucsf.edu</note><subject lang="en"><genre>ABR</genre><topic>NL/MGCLS, Noonan-like/multiple giant cell lesion syndrome</topic></subject><subject lang="en"><genre>KWD</genre><topic>Noonan’s syndrome</topic><topic>PTPN11</topic><topic>SH3BP2</topic><topic>giant cell lesion</topic></subject><relatedItem type="host"><titleInfo><title>Journal of Medical Genetics</title></titleInfo><titleInfo type="abbreviated"><title>J Med Genet</title></titleInfo><genre type="journal">journal</genre><identifier type="ISSN">0022-2593</identifier><identifier type="eISSN">1468-6244</identifier><identifier type="PublisherID-hwp">jmedgenet</identifier><identifier type="PublisherID-nlm-ta">J Med Genet</identifier><part><date>2005</date><detail type="volume"><caption>vol.</caption><number>42</number></detail><detail type="issue"><caption>no.</caption><number>2</number></detail><extent unit="pages"><start>e11</start></extent></part></relatedItem><identifier type="istex">347BAA2477809719D33A4F17A5785B1526303358</identifier><identifier type="DOI">10.1136/jmg.2004.024091</identifier><identifier type="href">jmedgenet-42-e11.pdf</identifier><identifier type="PMID">15689434</identifier><identifier type="local">042e011</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright 2005 Journal of Medical Genetics</accessCondition><recordInfo><recordContentSource>BMJ</recordContentSource></recordInfo></mods></metadata><annexes><json:item><extension>jpeg</extension><original>true</original><mimetype>image/jpeg</mimetype><uri>https://api.istex.fr/document/347BAA2477809719D33A4F17A5785B1526303358/annexes/jpeg</uri></json:item></annexes><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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