نتائج البحث - "Porteous, Mary E M"

1

Academic Journal

Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia

المؤلفون: Faughnan, Marie E, Mager, Johannes J, Hetts, Steven W, Palda, Valerie A, Lang-Robertson, Kelly, Buscarini, Elisabetta, Deslandres, Erik, Kasthuri, Raj S, Lausman, Andrea, Poetker, David, Ratjen, Felix, Chesnutt, Mark S, Clancy, Marianne, Whitehead, Kevin J, Al-Samkari, Hanny, Chakinala, Murali, Conrad, Miles, Cortes, Daniel, Crocione, Claudia, Darling, Jama, de Gussem, Els, Derksen, Carol, Dupuis-Girod, Sophie, Foy, Patrick, Geisthoff, Urban, Gossage, James R, Hammill, Adrienne, Heimdal, Ketil, Henderson, Katharine, Iyer, Vivek N, Kjeldsen, Anette D, Komiyama, Masaki, Korenblatt, Kevin, McDonald, Jamie, McMahon, Jack, McWilliams, Justin, Meek, Mary E, Mei-Zahav, Meir, Olitsky, Scott, Palmer, Sara, Pantalone, Rose, Piccirillo, Jay F, Plahn, Beth, Porteous, Mary E M, Post, Marco C, Radovanovic, Ivan, Rochon, Paul J, Rodriguez-Lopez, Josanna, Sabba, Carlo, Serra, Marcelo, Shovlin, Claire, Sprecher, Dennis, White, Andrew J, Winship, Ingrid, Zarrabeitia, Roberto

المساهمون: Faughnan, Marie E, Mager, Johannes J, Hetts, Steven W, Palda, Valerie A, Lang-Robertson, Kelly, Buscarini, Elisabetta, Deslandres, Erik, Kasthuri, Raj S, Lausman, Andrea, Poetker, David, Ratjen, Felix, Chesnutt, Mark S, Clancy, Marianne, Whitehead, Kevin J, Al-Samkari, Hanny, Chakinala, Murali, Conrad, Mile, Cortes, Daniel, Crocione, Claudia, Darling, Jama, de Gussem, El, Derksen, Carol, Dupuis-Girod, Sophie, Foy, Patrick, Geisthoff, Urban, Gossage, James R, Hammill, Adrienne, Heimdal, Ketil, Henderson, Katharine, Iyer, Vivek N, Kjeldsen, Anette D, Komiyama, Masaki, Korenblatt, Kevin, Mcdonald, Jamie, Mcmahon, Jack, Mcwilliams, Justin, Meek, Mary E, Mei-Zahav, Meir, Olitsky, Scott, Palmer, Sara, Pantalone, Rose, Piccirillo, Jay F, Plahn, Beth, Porteous, Mary E M, Post, Marco C, Radovanovic, Ivan, Rochon, Paul J, Rodriguez-Lopez, Josanna, Sabba, Carlo, Serra, Marcelo, Shovlin, Claire, Sprecher, Denni, White, Andrew J, Winship, Ingrid, Zarrabeitia, Roberto

مصطلحات موضوعية: HHT, Second International Guidelines

Relation: info:eu-repo/semantics/altIdentifier/pmid/32894695; info:eu-repo/semantics/altIdentifier/wos/WOS:000598911600012; volume:173; issue:12; firstpage:989; lastpage:1001; numberofpages:13; journal:ANNALS OF INTERNAL MEDICINE; http://hdl.handle.net/11586/338489; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85096106551

الاتاحة: http://hdl.handle.net/11586/338489
https://doi.org/10.7326/M20-1443
https://www.acpjournals.org/doi/10.7326/M20-1443

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2

Academic Journal

Life expectancy and death from cardiomyopathy amongst carriers of Duchenne and Becker muscular dystrophy in Scotland

المؤلفون: Holloway, Susan M, Wilcox, Douglas E, Wilcox, Alison, Dean, John C S, Berg, Jonathan N, Goudie, David R, Denvir, Martin A, Porteous, Mary E M

مصطلحات موضوعية: Original articles

وصف الملف: text/html

Relation: http://heart.bmj.com/cgi/content/short/hrt.2007.125948v1; http://dx.doi.org/10.1136/hrt.2007.125948

الاتاحة: http://heart.bmj.com/cgi/content/short/hrt.2007.125948v1
https://doi.org/10.1136/hrt.2007.125948

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3

Academic Journal

A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2

المؤلفون: Srinivasan, Sudha, Hanes, Martha A., Dickens, Tayeashai, Porteous, Mary E. M., Oh, S. Paul, Hale, Laura P., Marchuk, Douglas A.

مصطلحات موضوعية: ARTICLES

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/12/5/473; http://dx.doi.org/10.1093/hmg/ddg050

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/12/5/473
https://doi.org/10.1093/hmg/ddg050

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4

Academic Journal

Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2

المؤلفون: Garcia-Miñaur, Sixto, Mavrogiannis, Lampros A, Rannan-Eliya, Sahan V, Hendry, Michael A, Liston, William A, Porteous, Mary E M, Wilkie, Andrew O M

المصدر: European Journal of Human Genetics ; volume 11, issue 11, page 892-895 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/sj.ejhg.5201062
http://www.nature.com/articles/5201062.pdf
http://www.nature.com/articles/5201062

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5

Academic Journal

A family with hereditary port wine stain

المؤلفون: BERG, JONATHAN N, QUABA, A A, GEORGANTOPOULOU, A, PORTEOUS, MARY E M

مصطلحات موضوعية: Electronic letters

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/37/8/e12; http://dx.doi.org/10.1136/jmg.37.8.e12

الاتاحة: http://jmg.bmj.com/cgi/content/short/37/8/e12
https://doi.org/10.1136/jmg.37.8.e12

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6

Electronic Resource

Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia

المؤلفون: Circulatory Health, Team Medisch, Cardiologie, Faughnan, Marie E, Mager, Johannes J, Hetts, Steven W, Palda, Valerie A, Lang-Robertson, Kelly, Buscarini, Elisabetta, Deslandres, Erik, Kasthuri, Raj S, Lausman, Andrea, Poetker, David, Ratjen, Felix, Chesnutt, Mark S, Clancy, Marianne, Whitehead, Kevin J, Al-Samkari, Hanny, Chakinala, Murali, Conrad, Miles, Cortes, Daniel, Crocione, Claudia, Darling, Jama, de Gussem, Els, Derksen, Carol, Dupuis-Girod, Sophie, Foy, Patrick, Geisthoff, Urban, Gossage, James R, Hammill, Adrienne, Heimdal, Ketil, Henderson, Katharine, Iyer, Vivek N, Kjeldsen, Anette D, Komiyama, Masaki, Korenblatt, Kevin, McDonald, Jamie, McMahon, Jack, McWilliams, Justin, Meek, Mary E, Mei-Zahav, Meir, Olitsky, Scott, Palmer, Sara, Pantalone, Rose, Piccirillo, Jay F, Plahn, Beth, Porteous, Mary E M, Post, Marco C, Radovanovic, Ivan, Rochon, Paul J, Rodriguez-Lopez, Josanna, Sabba, Carlo, Serra, Marcelo, Shovlin, Claire, Sprecher, Dennis, White, Andrew J, Winship, Ingrid, Zarrabeitia, Roberto

URL: https://doi.org/10.7326/M20-1443
http://hdl.handle.net/1874/443151
https://dspace.library.uu.nl/handle/1874/443151
http://www.scopus.com/inward/record.url?scp=85096106551&partnerID=8YFLogxK
0003-4819
Annals of Internal Medicine
173
12
989
1001

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7

Academic Journal

Intelligence and development in Aarskog syndrome

المؤلفون: Logie, Lindsay J, Porteous, Mary E M

مصطلحات موضوعية: Original articles

وصف الملف: text/html

Relation: http://adc.bmj.com/cgi/content/short/79/4/359; http://dx.doi.org/10.1136/adc.79.4.359

الاتاحة: http://adc.bmj.com/cgi/content/short/79/4/359
https://doi.org/10.1136/adc.79.4.359

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8

Book

Hereditary hemorrhagic telangiectasia

المؤلفون: Porteous, Mary E. M., Berg, Jonathan N.

المساهمون: Cassidy, Suzanne B., Allanson, Judith E.

المصدر: Porteous , M E M & Berg , J N 2010 , Hereditary hemorrhagic telangiectasia . in S B Cassidy & J E Allanson (eds) , Management of genetic syndromes . 3rd edn , Wiley-Blackwell , Oxford , pp. 429-440 . https://doi.org/10.1002/9780470893159.ch29

Relation: https://discovery.dundee.ac.uk/en/publications/d41a3a88-eec0-42f5-a350-79969f828fc9; urn:ISBN:9780470191415

الاتاحة: https://discovery.dundee.ac.uk/en/publications/d41a3a88-eec0-42f5-a350-79969f828fc9
https://doi.org/10.1002/9780470893159.ch29
http://www.scopus.com/inward/record.url?scp=84885994474&partnerID=8YFLogxK
http://copac.ac.uk/search?&isn=9780470191415&sort-order=ti,-date

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9

Academic Journal

Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24

المؤلفون: Zanke, Brent W, Greenwood, Celia MT, Rangrej, Jagadish, Kustra, Rafal, Tenesa, Albert, Farrington, Susan M, Prendergast, James, Olschwang, Sylviane, Chiang, Theodore, Crowdy, Edgar, Ferretti, Vincent, Laflamme, Philippe, Sundararajan, Saravanan, Roumy, Stéphanie, Olivier, Jean-François, Robidoux, Frédérick, Sladek, Robert, Montpetit, Alexandre, Campbell, Peter, Bezieau, Stephane, O'Shea, Anne Marie, Zogopoulos, George, Cotterchio, Michelle, Newcomb, Polly, McLaughlin, John, Younghusband, Ban, Green, Roger, Green, Jane, Porteous, Mary E M, Campbell, Harry, Blanche, Helene, Sahbatou, Mourad, Tubacher, Emmanuel, Bonaiti-Pellié, Catherine, Buecher, Bruno, Riboli, Elio, Kury, Sebastien, Chanock, Stephen J, Potter, John, Thomas, Gilles, Gallinger, Steven, Hudson, Thomas J, Dunlop, Malcolm G

المصدر: Nature Genetics ; volume 39, issue 8, page 989-994 ; ISSN 1061-4036 1546-1718

الاتاحة: http://dx.doi.org/10.1038/ng2089
http://www.nature.com/articles/ng2089.pdf
http://www.nature.com/articles/ng2089

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10

Academic Journal

Further evidence of genetic heterogeneity in hereditary hydronephrosis

المؤلفون: McHale, Duncan, Porteous, Mary E. M., Wentzel, John, Bum, John

المصدر: Clinical Genetics ; volume 50, issue 6, page 491-493 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/j.1399-0004.1996.tb02719.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.1996.tb02719.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1399-0004.1996.tb02719.x

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11

Academic Journal

Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative Rho/Rac guanine nucleotide exchange factor

المؤلفون: German Pasteris, N., Cadle, Amy B., Logie, Lindsay J., Porteous, Mary E. M., Schwartz, Charles E., Stevenson, Roger E., Glover, Thomas W., Sid Wilroy, R., Gorski, Jerome L.

المساهمون: Department of Human Genetics University of Michigan, Ann Arbor, Michigan 48109-0688, USA, Department of Pediatrics University of Michigan, Ann Arbor, Michigan 48109-0688, USA, Greenwood Genetic Center, Greenwood, South Carolina 29646, USA, Department of Pediatrics University of Tennessee Memphis Health Science Center, Memphis, Tennessee 38105, USA

مصطلحات موضوعية: Molecular, Cellular and Developmental Biology, Science, Health Sciences

وصف الملف: 1704532 bytes; 3118 bytes; application/pdf; text/plain

Relation: German Pasteris, N., Cadle, Amy, Logie, Lindsay J., Porteous, Mary E. M., Schwartz, Charles E., Stevenson, Roger E., Glover, Thomas W., Sid Wilroy, R., Gorski, Jerome L. (1994/11/18)."Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative Rho/Rac guanine nucleotide exchange factor." Cell 79(4): 669-678.; http://www.sciencedirect.com/science/article/B6WSN-4CXMRRR-18/2/704128ac73e0449aaff84b978cfab826; http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=7954831&dopt=citation; https://hdl.handle.net/2027.42/31188; 7954831; http://dx.doi.org/10.1016/0092-8674(94)90552-5; Cell