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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Proceedings from the 2009 Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back</title><author><name sortKey="Rauen, Katherine A" sort="Rauen, Katherine A" uniqKey="Rauen K" first="Katherine A." last="Rauen">Katherine A. Rauen</name><affiliation><nlm:aff id="A1">University of California, San Francisco, San Francisco, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Schoyer, Lisa" sort="Schoyer, Lisa" uniqKey="Schoyer L" first="Lisa" last="Schoyer">Lisa Schoyer</name><affiliation><nlm:aff id="A2">Costello Syndrome Family Network, Altadena, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Mccormick, Frank" sort="Mccormick, Frank" uniqKey="Mccormick F" first="Frank" last="Mccormick">Frank Mccormick</name><affiliation><nlm:aff id="A1">University of California, San Francisco, San Francisco, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Lin, Angela E" sort="Lin, Angela E" uniqKey="Lin A" first="Angela E." last="Lin">Angela E. Lin</name><affiliation><nlm:aff id="A3">MassGen Hospital for Children, Boston, MA, USA</nlm:aff></affiliation></author><author><name sortKey="Allanson, Judith E" sort="Allanson, Judith E" uniqKey="Allanson J" first="Judith E." last="Allanson">Judith E. Allanson</name><affiliation><nlm:aff id="A4">Children’s Hospital Eastern Ontario, Ottawa, Canada</nlm:aff></affiliation></author><author><name sortKey="Stevenson, David A" sort="Stevenson, David A" uniqKey="Stevenson D" first="David A." last="Stevenson">David A. Stevenson</name><affiliation><nlm:aff id="A5">University of Utah, Salt Lake City, UT, USA</nlm:aff></affiliation></author><author><name sortKey="Gripp, Karen W" sort="Gripp, Karen W" uniqKey="Gripp K" first="Karen W." last="Gripp">Karen W. Gripp</name><affiliation><nlm:aff id="A6">Alfred I. duPont Hospital for Children, Wilmington DE, USA</nlm:aff></affiliation></author><author><name sortKey="Neri, Giovanni" sort="Neri, Giovanni" uniqKey="Neri G" first="Giovanni" last="Neri">Giovanni Neri</name><affiliation><nlm:aff id="A7">Universita Cattolica del S. Cuore, Rome, Italy</nlm:aff></affiliation></author><author><name sortKey="Carey, John C" sort="Carey, John C" uniqKey="Carey J" first="John C." last="Carey">John C. Carey</name><affiliation><nlm:aff id="A5">University of Utah, Salt Lake City, UT, USA</nlm:aff></affiliation></author><author><name sortKey="Legius, Eric" sort="Legius, Eric" uniqKey="Legius E" first="Eric" last="Legius">Eric Legius</name><affiliation><nlm:aff id="A8">Catholic University Leuven, Leuven, Belgium</nlm:aff></affiliation></author><author><name sortKey="Tartaglia, Marco" sort="Tartaglia, Marco" uniqKey="Tartaglia M" first="Marco" last="Tartaglia">Marco Tartaglia</name><affiliation><nlm:aff id="A9">Istituto Superiore di Sanità, Rome, Italy</nlm:aff></affiliation></author><author><name sortKey="Schubbert, Suzanne" sort="Schubbert, Suzanne" uniqKey="Schubbert S" first="Suzanne" last="Schubbert">Suzanne Schubbert</name><affiliation><nlm:aff id="A10">University of California, Los Angeles, Los Angeles, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Roberts, Amy E" sort="Roberts, Amy E" uniqKey="Roberts A" first="Amy E." last="Roberts">Amy E. Roberts</name><affiliation><nlm:aff id="A11">Children’s Hospital Boston, Boston, MA, USA</nlm:aff></affiliation></author><author><name sortKey="Gelb, Bruce D" sort="Gelb, Bruce D" uniqKey="Gelb B" first="Bruce D." last="Gelb">Bruce D. Gelb</name><affiliation><nlm:aff id="A12">Mount Sinai School of Medicine, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Shannon, Kevin" sort="Shannon, Kevin" uniqKey="Shannon K" first="Kevin" last="Shannon">Kevin Shannon</name><affiliation><nlm:aff id="A1">University of California, San Francisco, San Francisco, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Gutmann, David H" sort="Gutmann, David H" uniqKey="Gutmann D" first="David H." last="Gutmann">David H. Gutmann</name><affiliation><nlm:aff id="A13">Washington University School of Medicine, St. Louis, MO, USA</nlm:aff></affiliation></author><author><name sortKey="Mcmahon, Martin" sort="Mcmahon, Martin" uniqKey="Mcmahon M" first="Martin" last="Mcmahon">Martin Mcmahon</name><affiliation><nlm:aff id="A1">University of California, San Francisco, San Francisco, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Guerra, Carmen" sort="Guerra, Carmen" uniqKey="Guerra C" first="Carmen" last="Guerra">Carmen Guerra</name><affiliation><nlm:aff id="A14">Spanish National Cancer Research Center, Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Fagin, James A" sort="Fagin, James A" uniqKey="Fagin J" first="James A." last="Fagin">James A. Fagin</name><affiliation><nlm:aff id="A15">Memorial Sloan-Kettering Cancer Center, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Yu, Benjamin" sort="Yu, Benjamin" uniqKey="Yu B" first="Benjamin" last="Yu">Benjamin Yu</name><affiliation><nlm:aff id="A16">University of California, San Diego, La Jolla, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Aoki, Yoko" sort="Aoki, Yoko" uniqKey="Aoki Y" first="Yoko" last="Aoki">Yoko Aoki</name><affiliation><nlm:aff id="A17">Tohoku University School of Medicine, Sendai, Miyagi, Japan</nlm:aff></affiliation></author><author><name sortKey="Neel, Ben G" sort="Neel, Ben G" uniqKey="Neel B" first="Ben G." last="Neel">Ben G. Neel</name><affiliation><nlm:aff id="A18">Ontario Cancer Institute, Toronto, Canada</nlm:aff></affiliation></author><author><name sortKey="Balmain, Allan" sort="Balmain, Allan" uniqKey="Balmain A" first="Allan" last="Balmain">Allan Balmain</name><affiliation><nlm:aff id="A1">University of California, San Francisco, San Francisco, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Drake, Richard R" sort="Drake, Richard R" uniqKey="Drake R" first="Richard R." last="Drake">Richard R. Drake</name><affiliation><nlm:aff id="A19">Eastern Virginia Medical School, Norfolk, VA, USA</nlm:aff></affiliation></author><author><name sortKey="Nolan, Garry P" sort="Nolan, Garry P" uniqKey="Nolan G" first="Garry P." last="Nolan">Garry P. Nolan</name><affiliation><nlm:aff id="A20">Stanford University School of Medicine, Palo Alto, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name><affiliation><nlm:aff id="A21">University Hospital Erlangen, Germany</nlm:aff></affiliation></author><author><name sortKey="Bollag, Gideon" sort="Bollag, Gideon" uniqKey="Bollag G" first="Gideon" last="Bollag">Gideon Bollag</name><affiliation><nlm:aff id="A22">Plexxikon, Berkeley, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Sebolt Leopold, Judith" sort="Sebolt Leopold, Judith" uniqKey="Sebolt Leopold J" first="Judith" last="Sebolt-Leopold">Judith Sebolt-Leopold</name><affiliation><nlm:aff id="A23">Oncovera Therapeutics, Inc., Ann Arbor, MI, USA</nlm:aff></affiliation></author><author><name sortKey="Gibbs, Jackson B" sort="Gibbs, Jackson B" uniqKey="Gibbs J" first="Jackson B." last="Gibbs">Jackson B. Gibbs</name><affiliation><nlm:aff id="A24">AstraZeneca, Waltham, MA, USA</nlm:aff></affiliation></author><author><name sortKey="Silva, Alcino J" sort="Silva, Alcino J" uniqKey="Silva A" first="Alcino J." last="Silva">Alcino J. Silva</name><affiliation><nlm:aff id="A10">University of California, Los Angeles, Los Angeles, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Patton, E Elizabeth" sort="Patton, E Elizabeth" uniqKey="Patton E" first="E. Elizabeth" last="Patton">E. Elizabeth Patton</name><affiliation><nlm:aff id="A25">Edinburgh Cancer Research Centre, Edinburgh, Scotland, UK</nlm:aff></affiliation></author><author><name sortKey="Viskochil, David H" sort="Viskochil, David H" uniqKey="Viskochil D" first="David H." last="Viskochil">David H. Viskochil</name><affiliation><nlm:aff id="A5">University of Utah, Salt Lake City, UT, USA</nlm:aff></affiliation></author><author><name sortKey="Kieran, Mark W" sort="Kieran, Mark W" uniqKey="Kieran M" first="Mark W." last="Kieran">Mark W. Kieran</name><affiliation><nlm:aff id="A26">Dana Farber Cancer Institute, Boston, MA, USA</nlm:aff></affiliation></author><author><name sortKey="Korf, Bruce R" sort="Korf, Bruce R" uniqKey="Korf B" first="Bruce R." last="Korf">Bruce R. Korf</name><affiliation><nlm:aff id="A27">University of Alabama at Birmingham, Birmingham, AL, USA</nlm:aff></affiliation></author><author><name sortKey="Hagerman, Randi J" sort="Hagerman, Randi J" uniqKey="Hagerman R" first="Randi J." last="Hagerman">Randi J. Hagerman</name><affiliation><nlm:aff id="A28">University of California, Davis, Davis, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Packer, Roger J" sort="Packer, Roger J" uniqKey="Packer R" first="Roger J." last="Packer">Roger J. Packer</name><affiliation><nlm:aff id="A29">Children’s National Medical Center, Washington DC, USA</nlm:aff></affiliation></author><author><name sortKey="Melese, Teri" sort="Melese, Teri" uniqKey="Melese T" first="Teri" last="Melese">Teri Melese</name><affiliation><nlm:aff id="A1">University of California, San Francisco, San Francisco, CA, USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">20014119</idno><idno type="pmc">4051786</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4051786</idno><idno type="RBID">PMC:4051786</idno><idno type="doi">10.1002/ajmg.a.33183</idno><date when="2010">2010</date><idno type="wicri:Area/Pmc/Corpus">003495</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">003495</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Proceedings from the 2009 Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back</title><author><name sortKey="Rauen, Katherine A" sort="Rauen, Katherine A" uniqKey="Rauen K" first="Katherine A." last="Rauen">Katherine A. Rauen</name><affiliation><nlm:aff id="A1">University of California, San Francisco, San Francisco, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Schoyer, Lisa" sort="Schoyer, Lisa" uniqKey="Schoyer L" first="Lisa" last="Schoyer">Lisa Schoyer</name><affiliation><nlm:aff id="A2">Costello Syndrome Family Network, Altadena, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Mccormick, Frank" sort="Mccormick, Frank" uniqKey="Mccormick F" first="Frank" last="Mccormick">Frank Mccormick</name><affiliation><nlm:aff id="A1">University of California, San Francisco, San Francisco, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Lin, Angela E" sort="Lin, Angela E" uniqKey="Lin A" first="Angela E." last="Lin">Angela E. Lin</name><affiliation><nlm:aff id="A3">MassGen Hospital for Children, Boston, MA, USA</nlm:aff></affiliation></author><author><name sortKey="Allanson, Judith E" sort="Allanson, Judith E" uniqKey="Allanson J" first="Judith E." last="Allanson">Judith E. Allanson</name><affiliation><nlm:aff id="A4">Children’s Hospital Eastern Ontario, Ottawa, Canada</nlm:aff></affiliation></author><author><name sortKey="Stevenson, David A" sort="Stevenson, David A" uniqKey="Stevenson D" first="David A." last="Stevenson">David A. Stevenson</name><affiliation><nlm:aff id="A5">University of Utah, Salt Lake City, UT, USA</nlm:aff></affiliation></author><author><name sortKey="Gripp, Karen W" sort="Gripp, Karen W" uniqKey="Gripp K" first="Karen W." last="Gripp">Karen W. Gripp</name><affiliation><nlm:aff id="A6">Alfred I. duPont Hospital for Children, Wilmington DE, USA</nlm:aff></affiliation></author><author><name sortKey="Neri, Giovanni" sort="Neri, Giovanni" uniqKey="Neri G" first="Giovanni" last="Neri">Giovanni Neri</name><affiliation><nlm:aff id="A7">Universita Cattolica del S. Cuore, Rome, Italy</nlm:aff></affiliation></author><author><name sortKey="Carey, John C" sort="Carey, John C" uniqKey="Carey J" first="John C." last="Carey">John C. Carey</name><affiliation><nlm:aff id="A5">University of Utah, Salt Lake City, UT, USA</nlm:aff></affiliation></author><author><name sortKey="Legius, Eric" sort="Legius, Eric" uniqKey="Legius E" first="Eric" last="Legius">Eric Legius</name><affiliation><nlm:aff id="A8">Catholic University Leuven, Leuven, Belgium</nlm:aff></affiliation></author><author><name sortKey="Tartaglia, Marco" sort="Tartaglia, Marco" uniqKey="Tartaglia M" first="Marco" last="Tartaglia">Marco Tartaglia</name><affiliation><nlm:aff id="A9">Istituto Superiore di Sanità, Rome, Italy</nlm:aff></affiliation></author><author><name sortKey="Schubbert, Suzanne" sort="Schubbert, Suzanne" uniqKey="Schubbert S" first="Suzanne" last="Schubbert">Suzanne Schubbert</name><affiliation><nlm:aff id="A10">University of California, Los Angeles, Los Angeles, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Roberts, Amy E" sort="Roberts, Amy E" uniqKey="Roberts A" first="Amy E." last="Roberts">Amy E. Roberts</name><affiliation><nlm:aff id="A11">Children’s Hospital Boston, Boston, MA, USA</nlm:aff></affiliation></author><author><name sortKey="Gelb, Bruce D" sort="Gelb, Bruce D" uniqKey="Gelb B" first="Bruce D." last="Gelb">Bruce D. Gelb</name><affiliation><nlm:aff id="A12">Mount Sinai School of Medicine, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Shannon, Kevin" sort="Shannon, Kevin" uniqKey="Shannon K" first="Kevin" last="Shannon">Kevin Shannon</name><affiliation><nlm:aff id="A1">University of California, San Francisco, San Francisco, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Gutmann, David H" sort="Gutmann, David H" uniqKey="Gutmann D" first="David H." last="Gutmann">David H. Gutmann</name><affiliation><nlm:aff id="A13">Washington University School of Medicine, St. Louis, MO, USA</nlm:aff></affiliation></author><author><name sortKey="Mcmahon, Martin" sort="Mcmahon, Martin" uniqKey="Mcmahon M" first="Martin" last="Mcmahon">Martin Mcmahon</name><affiliation><nlm:aff id="A1">University of California, San Francisco, San Francisco, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Guerra, Carmen" sort="Guerra, Carmen" uniqKey="Guerra C" first="Carmen" last="Guerra">Carmen Guerra</name><affiliation><nlm:aff id="A14">Spanish National Cancer Research Center, Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Fagin, James A" sort="Fagin, James A" uniqKey="Fagin J" first="James A." last="Fagin">James A. Fagin</name><affiliation><nlm:aff id="A15">Memorial Sloan-Kettering Cancer Center, New York, NY, USA</nlm:aff></affiliation></author><author><name sortKey="Yu, Benjamin" sort="Yu, Benjamin" uniqKey="Yu B" first="Benjamin" last="Yu">Benjamin Yu</name><affiliation><nlm:aff id="A16">University of California, San Diego, La Jolla, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Aoki, Yoko" sort="Aoki, Yoko" uniqKey="Aoki Y" first="Yoko" last="Aoki">Yoko Aoki</name><affiliation><nlm:aff id="A17">Tohoku University School of Medicine, Sendai, Miyagi, Japan</nlm:aff></affiliation></author><author><name sortKey="Neel, Ben G" sort="Neel, Ben G" uniqKey="Neel B" first="Ben G." last="Neel">Ben G. Neel</name><affiliation><nlm:aff id="A18">Ontario Cancer Institute, Toronto, Canada</nlm:aff></affiliation></author><author><name sortKey="Balmain, Allan" sort="Balmain, Allan" uniqKey="Balmain A" first="Allan" last="Balmain">Allan Balmain</name><affiliation><nlm:aff id="A1">University of California, San Francisco, San Francisco, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Drake, Richard R" sort="Drake, Richard R" uniqKey="Drake R" first="Richard R." last="Drake">Richard R. Drake</name><affiliation><nlm:aff id="A19">Eastern Virginia Medical School, Norfolk, VA, USA</nlm:aff></affiliation></author><author><name sortKey="Nolan, Garry P" sort="Nolan, Garry P" uniqKey="Nolan G" first="Garry P." last="Nolan">Garry P. Nolan</name><affiliation><nlm:aff id="A20">Stanford University School of Medicine, Palo Alto, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name><affiliation><nlm:aff id="A21">University Hospital Erlangen, Germany</nlm:aff></affiliation></author><author><name sortKey="Bollag, Gideon" sort="Bollag, Gideon" uniqKey="Bollag G" first="Gideon" last="Bollag">Gideon Bollag</name><affiliation><nlm:aff id="A22">Plexxikon, Berkeley, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Sebolt Leopold, Judith" sort="Sebolt Leopold, Judith" uniqKey="Sebolt Leopold J" first="Judith" last="Sebolt-Leopold">Judith Sebolt-Leopold</name><affiliation><nlm:aff id="A23">Oncovera Therapeutics, Inc., Ann Arbor, MI, USA</nlm:aff></affiliation></author><author><name sortKey="Gibbs, Jackson B" sort="Gibbs, Jackson B" uniqKey="Gibbs J" first="Jackson B." last="Gibbs">Jackson B. Gibbs</name><affiliation><nlm:aff id="A24">AstraZeneca, Waltham, MA, USA</nlm:aff></affiliation></author><author><name sortKey="Silva, Alcino J" sort="Silva, Alcino J" uniqKey="Silva A" first="Alcino J." last="Silva">Alcino J. Silva</name><affiliation><nlm:aff id="A10">University of California, Los Angeles, Los Angeles, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Patton, E Elizabeth" sort="Patton, E Elizabeth" uniqKey="Patton E" first="E. Elizabeth" last="Patton">E. Elizabeth Patton</name><affiliation><nlm:aff id="A25">Edinburgh Cancer Research Centre, Edinburgh, Scotland, UK</nlm:aff></affiliation></author><author><name sortKey="Viskochil, David H" sort="Viskochil, David H" uniqKey="Viskochil D" first="David H." last="Viskochil">David H. Viskochil</name><affiliation><nlm:aff id="A5">University of Utah, Salt Lake City, UT, USA</nlm:aff></affiliation></author><author><name sortKey="Kieran, Mark W" sort="Kieran, Mark W" uniqKey="Kieran M" first="Mark W." last="Kieran">Mark W. Kieran</name><affiliation><nlm:aff id="A26">Dana Farber Cancer Institute, Boston, MA, USA</nlm:aff></affiliation></author><author><name sortKey="Korf, Bruce R" sort="Korf, Bruce R" uniqKey="Korf B" first="Bruce R." last="Korf">Bruce R. Korf</name><affiliation><nlm:aff id="A27">University of Alabama at Birmingham, Birmingham, AL, USA</nlm:aff></affiliation></author><author><name sortKey="Hagerman, Randi J" sort="Hagerman, Randi J" uniqKey="Hagerman R" first="Randi J." last="Hagerman">Randi J. Hagerman</name><affiliation><nlm:aff id="A28">University of California, Davis, Davis, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Packer, Roger J" sort="Packer, Roger J" uniqKey="Packer R" first="Roger J." last="Packer">Roger J. Packer</name><affiliation><nlm:aff id="A29">Children’s National Medical Center, Washington DC, USA</nlm:aff></affiliation></author><author><name sortKey="Melese, Teri" sort="Melese, Teri" uniqKey="Melese T" first="Teri" last="Melese">Teri Melese</name><affiliation><nlm:aff id="A1">University of California, San Francisco, San Francisco, CA, USA</nlm:aff></affiliation></author></analytic><series><title level="j">American journal of medical genetics. Part A</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">The RASopathies are a group of genetic syndromes caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Some of these syndromes are neurofibromatosis type 1, Noonan syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, LEOPARD syndrome and Legius syndrome. Their common underlying pathogenetic mechanism brings about significant overlap in phenotypic features and includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium “Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back” chronicle the timely and typical research symposium which brought together clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and individuals with Ras syndromes and their families. The goals, to discuss basic science and clinical issues, to set forth a solid framework for future research, to direct translational applications towards therapy and to set forth best practices for individuals with RASopathies was successfully meet with a commitment to begin to move towards clinical trials.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">101235741</journal-id><journal-id journal-id-type="pubmed-jr-id">32200</journal-id><journal-id journal-id-type="nlm-ta">Am J Med Genet A</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Med. Genet. A</journal-id><journal-title-group><journal-title>American journal of medical genetics. Part A</journal-title></journal-title-group><issn pub-type="ppub">1552-4825</issn><issn pub-type="epub">1552-4833</issn></journal-meta><article-meta><article-id pub-id-type="pmid">20014119</article-id><article-id pub-id-type="pmc">4051786</article-id><article-id pub-id-type="doi">10.1002/ajmg.a.33183</article-id><article-id pub-id-type="manuscript">NIHMS158962</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Proceedings from the 2009 Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Rauen</surname><given-names>Katherine A.</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="corresp" rid="cor1">*</xref></contrib><contrib contrib-type="author"><name><surname>Schoyer</surname><given-names>Lisa</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>McCormick</surname><given-names>Frank</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Lin</surname><given-names>Angela E.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Allanson</surname><given-names>Judith E.</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Stevenson</surname><given-names>David A.</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Gripp</surname><given-names>Karen W.</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Neri</surname><given-names>Giovanni</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Carey</surname><given-names>John C.</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Legius</surname><given-names>Eric</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Tartaglia</surname><given-names>Marco</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Schubbert</surname><given-names>Suzanne</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Roberts</surname><given-names>Amy E.</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Gelb</surname><given-names>Bruce D.</given-names></name><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Shannon</surname><given-names>Kevin</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Gutmann</surname><given-names>David H.</given-names></name><xref ref-type="aff" rid="A13">13</xref></contrib><contrib contrib-type="author"><name><surname>McMahon</surname><given-names>Martin</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Guerra</surname><given-names>Carmen</given-names></name><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Fagin</surname><given-names>James A.</given-names></name><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Yu</surname><given-names>Benjamin</given-names></name><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Aoki</surname><given-names>Yoko</given-names></name><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Neel</surname><given-names>Ben G.</given-names></name><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Balmain</surname><given-names>Allan</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Drake</surname><given-names>Richard R.</given-names></name><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>Nolan</surname><given-names>Garry P.</given-names></name><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>Zenker</surname><given-names>Martin</given-names></name><xref ref-type="aff" rid="A21">21</xref></contrib><contrib contrib-type="author"><name><surname>Bollag</surname><given-names>Gideon</given-names></name><xref ref-type="aff" rid="A22">22</xref></contrib><contrib contrib-type="author"><name><surname>Sebolt-Leopold</surname><given-names>Judith</given-names></name><xref ref-type="aff" rid="A23">23</xref></contrib><contrib contrib-type="author"><name><surname>Gibbs</surname><given-names>Jackson B.</given-names></name><xref ref-type="aff" rid="A24">24</xref></contrib><contrib contrib-type="author"><name><surname>Silva</surname><given-names>Alcino J.</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Patton</surname><given-names>E. Elizabeth</given-names></name><xref ref-type="aff" rid="A25">25</xref></contrib><contrib contrib-type="author"><name><surname>Viskochil</surname><given-names>David H.</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Kieran</surname><given-names>Mark W.</given-names></name><xref ref-type="aff" rid="A26">26</xref></contrib><contrib contrib-type="author"><name><surname>Korf</surname><given-names>Bruce R.</given-names></name><xref ref-type="aff" rid="A27">27</xref></contrib><contrib contrib-type="author"><name><surname>Hagerman</surname><given-names>Randi J.</given-names></name><xref ref-type="aff" rid="A28">28</xref></contrib><contrib contrib-type="author"><name><surname>Packer</surname><given-names>Roger J.</given-names></name><xref ref-type="aff" rid="A29">29</xref></contrib><contrib contrib-type="author"><name><surname>Melese</surname><given-names>Teri</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib></contrib-group><aff id="A1"><label>1</label>University of California, San Francisco, San Francisco, CA, USA</aff><aff id="A2"><label>2</label>Costello Syndrome Family Network, Altadena, CA, USA</aff><aff id="A3"><label>3</label>MassGen Hospital for Children, Boston, MA, USA</aff><aff id="A4"><label>4</label>Children’s Hospital Eastern Ontario, Ottawa, Canada</aff><aff id="A5"><label>5</label>University of Utah, Salt Lake City, UT, USA</aff><aff id="A6"><label>6</label>Alfred I. duPont Hospital for Children, Wilmington DE, USA</aff><aff id="A7"><label>7</label>Universita Cattolica del S. Cuore, Rome, Italy</aff><aff id="A8"><label>8</label>Catholic University Leuven, Leuven, Belgium</aff><aff id="A9"><label>9</label>Istituto Superiore di Sanità, Rome, Italy</aff><aff id="A10"><label>10</label>University of California, Los Angeles, Los Angeles, CA, USA</aff><aff id="A11"><label>11</label>Children’s Hospital Boston, Boston, MA, USA</aff><aff id="A12"><label>12</label>Mount Sinai School of Medicine, New York, NY, USA</aff><aff id="A13"><label>13</label>Washington University School of Medicine, St. Louis, MO, USA</aff><aff id="A14"><label>14</label>Spanish National Cancer Research Center, Madrid, Spain</aff><aff id="A15"><label>15</label>Memorial Sloan-Kettering Cancer Center, New York, NY, USA</aff><aff id="A16"><label>16</label>University of California, San Diego, La Jolla, CA, USA</aff><aff id="A17"><label>17</label>Tohoku University School of Medicine, Sendai, Miyagi, Japan</aff><aff id="A18"><label>18</label>Ontario Cancer Institute, Toronto, Canada</aff><aff id="A19"><label>19</label>Eastern Virginia Medical School, Norfolk, VA, USA</aff><aff id="A20"><label>20</label>Stanford University School of Medicine, Palo Alto, CA, USA</aff><aff id="A21"><label>21</label>University Hospital Erlangen, Germany</aff><aff id="A22"><label>22</label>Plexxikon, Berkeley, CA, USA</aff><aff id="A23"><label>23</label>Oncovera Therapeutics, Inc., Ann Arbor, MI, USA</aff><aff id="A24"><label>24</label>AstraZeneca, Waltham, MA, USA</aff><aff id="A25"><label>25</label>Edinburgh Cancer Research Centre, Edinburgh, Scotland, UK</aff><aff id="A26"><label>26</label>Dana Farber Cancer Institute, Boston, MA, USA</aff><aff id="A27"><label>27</label>University of Alabama at Birmingham, Birmingham, AL, USA</aff><aff id="A28"><label>28</label>University of California, Davis, Davis, CA, USA</aff><aff id="A29"><label>29</label>Children’s National Medical Center, Washington DC, USA</aff><author-notes><corresp id="cor1">Correspondence to: Katherine A. Rauen, M.D., Ph.D., UCSF Helen Diller Family Comprehensive Cancer Center, 2340 Sutter Street, Room S429, Box 0808, San Francisco, CA, USA, 94115, <email>rauenk@peds.ucsf.edu</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>17</day><month>7</month><year>2012</year></pub-date><pub-date pub-type="ppub"><month>1</month><year>2010</year></pub-date><pub-date pub-type="pmc-release"><day>10</day><month>6</month><year>2014</year></pub-date><volume>0</volume><issue>1</issue><fpage>4</fpage><lpage>24</lpage><pmc-comment>elocation-id from pubmed: 10.1002/ajmg.a.33183</pmc-comment>
<abstract><p id="P1">The RASopathies are a group of genetic syndromes caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Some of these syndromes are neurofibromatosis type 1, Noonan syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, LEOPARD syndrome and Legius syndrome. Their common underlying pathogenetic mechanism brings about significant overlap in phenotypic features and includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium “Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back” chronicle the timely and typical research symposium which brought together clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and individuals with Ras syndromes and their families. The goals, to discuss basic science and clinical issues, to set forth a solid framework for future research, to direct translational applications towards therapy and to set forth best practices for individuals with RASopathies was successfully meet with a commitment to begin to move towards clinical trials.</p></abstract><kwd-group><kwd>Cardio-facio-cutaneous syndrome</kwd><kwd>clinical trial</kwd><kwd>Costello syndrome</kwd><kwd>neurofibromatosis type 1</kwd><kwd>Noonan syndrome</kwd><kwd>Legius syndrome</kwd><kwd>Ras/MAPK</kwd><kwd>signal transduction pathway</kwd><kwd>RASopathies</kwd><kwd>therapy</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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