المؤلفون: Portnoi, Marie-France, Dumargne, Marie-Charlotte, Rojo, Sandra, Witchel, Selma F, Duncan, Andrew J, Eozenou, Caroline, Bignon-Topalovic, Joelle, Yatsenko, Svetlana A, Rajkovic, Aleksandar, Reyes-Mugica, Miguel, Almstrup, Kristian, Fusee, Leila, Srivastava, Yogesh, Chantot-Bastaraud, Sandra, Hyon, Capucine, Louis-Sylvestre, Christine, Validire, Pierre, de Malleray Pichard, Caroline, Ravel, Celia, Christin-Maitre, Sophie, Brauner, Raja, Rossetti, Raffaella, Persani, Luca, Charreau, Eduardo H, Dain, Liliana, Chiauzzi, Violeta A, Mazen, Inas, Rouba, Hassan, Schluth-Bolard, Caroline, MacGowan, Stuart, McLean, WH Irwin, Patin, Etienne, Meyts, Ewa Rajpert-De, Jauch, Ralf, Achermann, John C, Siffroi, Jean-Pierre, McElreavey, Ken, Bashamboo, Anu

المصدر: Human Molecular Genetics. 27(7)

مصطلحات موضوعية: Rare Diseases, Contraception/Reproduction, Infertility, Clinical Research, Genetics, Aetiology, 2.1 Biological and endogenous factors, Reproductive health and childbirth, 46, XX Disorders of Sex Development, Adolescent, Child, Disorder of Sex Development, 46, XY, Female, Humans, Male, Mutation, Missense, Oligospermia, Primary Ovarian Insufficiency, SOXE Transcription Factors, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/41s0n02d
https://escholarship.org/content/qt41s0n02d/qt41s0n02d.pdf

المؤلفون: McAleer, Maeve A, Pohler, Elizabeth, Smith, Frances JD, Wilson, Neil J, Cole, Christian, MacGowan, Stuart, Koetsier, Jennifer L, Godsel, Lisa M, Harmon, Robert M, Gruber, Robert, Crumrine, Debra, Elias, Peter M, McDermott, Michael, Butler, Karina, Broderick, Annemarie, Sarig, Ofer, Sprecher, Eli, Green, Kathleen J, McLean, WH Irwin, Irvine, Alan D

المصدر: Journal of Allergy and Clinical Immunology. 136(5)

مصطلحات موضوعية: Human Genome, Pediatric, Genetics, Clinical Research, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Congenital, Skin, Child, Child, Preschool, DNA Mutational Analysis, Dermatitis, Desmoglein 1, Desmoplakins, Disease Progression, Humans, Hypersensitivity, Infant, Infant, Newborn, Male, Mutation, Missense, Pedigree, Protein Structure, Tertiary, Wasting Syndrome, Atopy, skin barrier, atopic dermatitis, desmosome, desmoplakin, atopic sensitization, eosinophilic esophagitis, Immunology, Allergy

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5sn426w3

المؤلفون: Saunders, Sean P, Goh, Christabelle SM, Brown, Sara J, Palmer, Colin NA, Porter, Rebecca M, Cole, Christian, Campbell, Linda E, Gierlinski, Marek, Barton, Geoffrey J, Schneider, Georg, Balmain, Allan, Prescott, Alan R, Weidinger, Stephan, Baurecht, Hansjörg, Kabesch, Michael, Gieger, Christian, Lee, Young-Ae, Tavendale, Roger, Mukhopadhyay, Somnath, Turner, Stephen W, Madhok, Vishnu B, Sullivan, Frank M, Relton, Caroline, Burn, John, Meggitt, Simon, Smith, Catherine H, Allen, Michael A, Barker, Jonathan NWN, Reynolds, Nick J, Cordell, Heather J, Irvine, Alan D, McLean, WH Irwin, Sandilands, Aileen, Fallon, Padraic G

المصدر: Journal of Allergy and Clinical Immunology. 132(5)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Immunology, Genetics, Eczema / Atopic Dermatitis, Aetiology, 2.1 Biological and endogenous factors, Skin, Animals, Dermatitis, Atopic, Filaggrin Proteins, Gene Expression, Genetic Predisposition to Disease, Humans, Male, Membrane Proteins, Mice, Mutation, Phenotype, Physical Chromosome Mapping, Polymorphism, Single Nucleotide, Allergy, association, atopic dermatitis, atopy, eczema, filaggrin, flaky tail, Matt, mattrin, mouse, mutation, Tmem79, AD, Atopic dermatitis, DM, Double mutant, FLG, Filaggrin, HDM, High-power field, House dust mite, MAPEG, Membrane-associated proteins in eicosanoid and glutathione metabolism, OR, Odds ratio, SNP, Single nucleotide polymorphism, TEWL, Transepidermal water loss, WT, Wild-type, hpf

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/86f5h52z
https://escholarship.org/content/qt86f5h52z/qt86f5h52z.pdf

المؤلفون: Pulkkinen, Leena, Kimonis, Virginia E, Xu, Yili, Spanou, Elena N, McLean, WH Irwin, Uitto, Jouni

المصدر: Human Molecular Genetics. 6(5)

مصطلحات موضوعية: Biological Sciences, Genetics, Pediatric, Clinical Research, Congenital Structural Anomalies, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Skin, Antigens, CD, Blister, Chromosome Mapping, Chromosomes, Human, Pair 2, Duodenal Obstruction, Epidermolysis Bullosa, Junctional, Exons, Female, Homozygote, Humans, Infant, Newborn, Integrin alpha6, Introns, Male, Molecular Sequence Data, Mutation, Pedigree, Pregnancy, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1r9223gt

المؤلفون: Leachman, Sancy A, Hickerson, Robyn P, Schwartz, Mary E, Bullough, Emily E, Hutcherson, Stephen L, Boucher, Kenneth M, Hansen, C David, Eliason, Mark J, Srivatsa, G Susan, Kornbrust, Douglas J, Smith, Frances JD, McLean, WH Irwin, Milstone, Leonard M, Kaspar, Roger L

المصدر: Molecular Therapy ; volume 18, issue 2, page 442-446 ; ISSN 1525-0016

الاتاحة: http://dx.doi.org/10.1038/mt.2009.273
https://api.elsevier.com/content/article/PII:S1525001616316288?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S1525001616316288?httpAccept=text/xml

المؤلفون: Blaydon, Diana C, Lind, Lisbet K, Plagnol, Vincent, Linton, Kenneth J, Smith, Francis JD, Wilson, Neil J, McLean, WH Irwin, Munro, Colin S, South, Andrew P, Leigh, Irene M, O'Toole, Edel A, Lundström, Anita, Kelsell, David P

المصدر: American Journal of Human Genetics. 93(2):330-335

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-80051

المؤلفون: McLean, WH Irwin, Irvine, Alan D

المصدر: The Ulster Medical Journal

مصطلحات موضوعية: Keratinocytes, Humans, Ichthyosis, Keratins, Review, Prognosis, Epithelium, Skin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7326cbe7029ebcbffed314e66a13f204
http://europepmc.org/articles/PMC2001132

المؤلفون: Paternoster, Lavinia, Standl, Marie, Waage, Johannes, Baurecht, Hansjörg, Hotze, Melanie, Strachan, David P, Curtin, John A, Bønnelykke, Klaus, Tian, Chao, Takahashi, Atsushi, Esparza-Gordillo, Jorge, Alves, Alexessander C, Thyssen, Jacob P, den Dekker, Herman T, Ferreira, Manuel A, Altmaier, Elisabeth, Sleiman, Patrick M, Xiao, Feng Li, Gonzalez, Juan R, Marenholz, Ingo, Kalb, Birgit, Yanes, Maria Pino, Xu, Cheng-Jian, Carstensen, Lisbeth, Groen-Blokhuis, Maria M, Venturini, Cristina, Pennell, Craig E, Barton, Sheila J, Levin, Albert M, Curjuric, Ivan, Bustamante, Mariona, Kreiner-Møller, Eskil, Lockett, Gabrielle A, Bacelis, Jonas, Bunyavanich, Supinda, Myers, Rachel A, Matanovic, Anja, Kumar, Ashish, Tung, Joyce Y, Hirota, Tomomitsu, Kubo, Michiaki, McArdle, Wendy L, Henderson, A J, Kemp, John P, Zheng, Jie, Smith, George Davey, Rüschendorf, Franz, Bauerfeind, Anja, Lee-Kirsch, Min Ae, Arnold, Andreas, Homuth, Georg, Schmidt, Carsten O, Mangold, Elisabeth, Cichon, Sven, Keil, Thomas, Rodríguez, Elke, Peters, Annette, Franke, Andre, Lieb, Wolfgang, Novak, Natalija, Fölster-Holst, Regina, Horikoshi, Momoko, Pekkanen, Juha, Sebert, Sylvain, Husemoen, Lise L, Grarup, Niels, de Jongste, Johan C, Rivadeneira, Fernando, Hofman, Albert, Jaddoe, Vincent, Pasmans, Suzanne Gma, Elbert, Niels J, Uitterlinden, André G, Marks, Guy B, Thompson, Philip J, Matheson, Melanie C, Robertson, Colin F, Ried, Janina S, Li, Jin, Zuo, Xian Bo, Zheng, Xiao Dong, Yin, Xian Yong, Sun, Liang Dan, McAleer, Maeve A, O'Regan, Grainne M, Fahy, Caoimhe, Campbell, Linda E, Macek, Milan, Kurek, Michael, Hu, Donglei, Eng, Celeste, Postma, Dirkje S, Feenstra, Bjarke, Geller, Frank, Hottenga, Jouke Jan, Middeldorp, Christel M, Hysi, Pirro, Bataille, Veronique, Spector, Tim, Tiesler, Carla Mt, Thiering, Elisabeth, Pahukasahasram, Badri, Yang, James J, Imboden, Medea, Huntsman, Scott, Vilor-Tejedor, Natà lia, Relton, Caroline L, Myhre, Ronny, Nystad, Wenche, Custovic, Adnan, Weiss, Scott T, Meyers, Deborah A, Söderhäll, Cilla, Melén, Erik, Ober, Carole, Raby, Benjamin A, Simpson, Angela, Jacobsson, Bo, Holloway, John W, Bisgaard, Hans, Sunyer, Jordi, Hensch, Nicole M Probst, Williams, Keoki L, Godfrey, Keith M, Wang, Carol A, Boomsma, Dorret I, Melbye, Mads, Koppelman, Gerard H, Jarvis, Deborah, McLean, Wh Irwin, Irvine, Alan D, Zhang, Xue Jun, Hakonarson, Hakon, Gieger, Christian, Burchard, Esteban G, Martin, Nicholas G, Duijts, Liesbeth, Linneberg, Allan, Jarvelin, Marjo-Riitta, Noethen, Markus M, Lau, Susanne, Hübner, Norbert, Lee, Young-Ae, Tamari, Mayumi, Hinds, David A, Glass, Daniel, Brown, Sara J, Heinrich, Joachim, Evans, David M, Weidinger, Stephan

المصدر: Center for Health Policy and Health Services Research Articles

مصطلحات موضوعية: Case-Control Studies, Dermatitis, Atopic, Ethnic Groups, Genetic Loci, Genetic Markers, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Immunity, Innate, Polymorphism, Single Nucleotide, Risk Factors, T-Lymphocytes

وصف الملف: application/pdf

Relation: https://scholarlycommons.henryford.com/chphsr_articles/133; https://scholarlycommons.henryford.com/context/chphsr_articles/article/1132/viewcontent/ng.3424.pdf

الاتاحة: https://scholarlycommons.henryford.com/chphsr_articles/133
https://scholarlycommons.henryford.com/context/chphsr_articles/article/1132/viewcontent/ng.3424.pdf

المؤلفون: Paternoster, Lavinia, Standl, Marie, Waage, Johannes, Baurecht, Hansjörg, Hotze, Melanie, Strachan, David P, Curtin, John A, Bønnelykke, Klaus, Tian, Chao, Takahashi, Atsushi, Esparza-Gordillo, Jorge, Alves, Alexessander Couto, Thyssen, Jacob P, den Dekker, Herman T, Ferreira, Manuel A, Altmaier, Elisabeth, Sleiman, Patrick MA, Xiao, Feng Li, Gonzalez, Juan R, Marenholz, Ingo, Kalb, Birgit, Yanes, Maria Pino, Xu, Cheng-Jian, Carstensen, Lisbeth, Groen-Blokhuis, Maria M, Venturini, Cristina, Pennell, Craig E, Barton, Sheila J, Levin, Albert M, Curjuric, Ivan, Bustamante, Mariona, Kreiner-Møller, Eskil, Lockett, Gabrielle A, Bacelis, Jonas, Bunyavanich, Supinda, Myers, Rachel A, Matanovic, Anja, Kumar, Ashish, Tung, Joyce Y, Hirota, Tomomitsu, Kubo, Michiaki, McArdle, Wendy L, Henderson, A J, Kemp, John P, Zheng, Jie, Smith, George Davey, Rüschendorf, Franz, Bauerfeind, Anja, Lee-Kirsch, Min Ae, Arnold, Andreas, Homuth, Georg, Schmidt, Carsten O, Mangold, Elisabeth, Cichon, Sven, Keil, Thomas, Rodríguez, Elke, Peters, Annette, Franke, Andre, Lieb, Wolfgang, Novak, Natalija, Fölster-Holst, Regina, Horikoshi, Momoko, Pekkanen, Juha, Sebert, Sylvain, Husemoen, Lise L, Grarup, Niels, de Jongste, Johan C, Rivadeneira, Fernando, Hofman, Albert, Jaddoe, Vincent WV, Pasmans, Suzanne GMA, Elbert, Niels J, Uitterlinden, André G, Marks, Guy B, Thompson, Philip J, Matheson, Melanie C, Robertson, Colin F, Ried, Janina S, Li, Jin, Zuo, Xian Bo, Zheng, Xiao Dong, Yin, Xian Yong, Sun, Liang Dan, McAleer, Maeve A, O'Regan, Grainne M, Fahy, Caoimhe MR, Campbell, Linda E, Macek, Milan, Kurek, Michael, Hu, Donglei, Eng, Celeste, Postma, Dirkje S, Feenstra, Bjarke, Geller, Frank, Hottenga, Jouke Jan, Middeldorp, Christel M, Hysi, Pirro, Bataille, Veronique, Spector, Tim, Tiesler, Carla MT, Thiering, Elisabeth, Pahukasahasram, Badri, Yang, James J, Imboden, Medea, Huntsman, Scott, Vilor-Tejedor, Natàlia, Relton, Caroline L, Myhre, Ronny, Nystad, Wenche, Custovic, Adnan, Weiss, Scott T, Meyers, Deborah A, Söderhäll, Cilla, Melén, Erik, Ober, Carole, Raby, Benjamin A, Simpson, Angela, Jacobsson, Bo, Holloway, John W, Bisgaard, Hans, Sunyer, Jordi, Hensch, Nicole M Probst, Williams, L Keoki, Godfrey, Keith M, Wang, Carol A, Boomsma, Dorret I, Melbye, Mads, Koppelman, Gerard H, Jarvis, Deborah, McLean, WH Irwin, Irvine, Alan D, Zhang, Xue Jun, Hakonarson, Hakon, Gieger, Christian, Burchard, Esteban G, Martin, Nicholas G, Duijts, Liesbeth, Linneberg, Allan, Jarvelin, Marjo-Riitta, Noethen, Markus M, Lau, Susanne, Hübner, Norbert, Lee, Young-Ae, Tamari, Mayumi, Hinds, David A, Glass, Daniel, Brown, Sara J, Heinrich, Joachim, Evans, David M, Weidinger, Stephan

وصف الملف: application/pdf

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4753676/pdf/; Nature genetics; Paternoster, L., M. Standl, J. Waage, H. Baurecht, M. Hotze, D. P. Strachan, J. A. Curtin, et al. 2015. “Multi-ethnic genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.” Nature genetics 47 (12): 1449-1456. doi:10.1038/ng.3424. http://dx.doi.org/10.1038/ng.3424.; http://nrs.harvard.edu/urn-3:HUL.InstRepos:27320465

الاتاحة: http://nrs.harvard.edu/urn-3:HUL.InstRepos:27320465
https://doi.org/10.1038/ng.3424

المؤلفون: Genetic Analysis of Psoriasis Consortium & the Wellcome Trust Ca, Strange, Amy, Capon, Francesca, Spencer, Chris CA, Knight, Jo, Weale, Michael E, Allen, Michael H, Barton, Anne, Band, Gavin, Bellenguez, Céline, Bergboer, Judith GM, Blackwell, Jenefer M, Bramon, Elvira, Bumpstead, Suzannah J, Casas, Juan P, Cork, Michael J, Corvin, Aiden, Deloukas, Panos, Dilthey, Alexander, Duncanson, Audrey, Edkins, Sarah, Estivill, Xavier, Fitzgerald, Oliver, Freeman, Colin, Giardina, Emiliano, Gray, Emma, Hofer, Angelika, Hüffmeier, Ulrike, Hunt, Sarah E, Irvine, Alan D, Jankowski, Janusz, Kirby, Brian, Langford, Cordelia, Lascorz, Jesús, Leman, Joyce, Leslie, Stephen, Mallbris, Lotus, Markus, Hugh S, Mathew, Christopher G, McLean, WH Irwin, McManus, Ross, Mössner, Rotraut, Moutsianas, Loukas, Naluai, Asa T, Nestle, Frank O, Novelli, Giuseppe, Onoufriadis, Alexandros, Palmer, Colin NA, Perricone, Carlo, Pirinen, Matti, Plomin, Robert, Potter, Simon C, Pujol, Ramon M, Rautanen, Anna, Riveira-Munoz, Eva, Ryan, Anthony W, Salmhofer, Wolfgang, Samuelsson, Lena, Sawcer, Stephen J, Schalkwijk, Joost, Smith, Catherine H, Ståhle, Mona, Su, Zhan, Tazi-Ahnini, Rachid, Traupe, Heiko, Viswanathan, Ananth C, Warren, Richard B, Weger, Wolfgang, Wolk, Katarina, Wood, Nicholas, Worthington, Jane, Young, Helen S, Zeeuwen, Patrick LJM, Hayday, Adrian, Burden, A David, Griffiths, Christopher EM, Kere, Juha, Reis, André, McVean, Gilean, Evans, David M, Brown, Matthew A, Barker, Jonathan N, Peltonen, Leena, Donnelly, Peter, Trembath, Richard C

Relation: Genetic Analysis of Psoriasis Consortium & the Wellcome Trust Ca; Strange, Amy; Capon, Francesca; Spencer, Chris CA; Knight, Jo; Weale, Michael E; Allen, Michael H; Barton, Anne; Band, Gavin; Bellenguez, Céline; +75 more. Bergboer, Judith GM; Blackwell, Jenefer M; Bramon, Elvira; Bumpstead, Suzannah J; Casas, Juan P ; Cork, Michael J; Corvin, Aiden; Deloukas, Panos; Dilthey, Alexander; Duncanson, Audrey; Edkins, Sarah; Estivill, Xavier; Fitzgerald, Oliver; Freeman, Colin; Giardina, Emiliano; Gray, Emma; Hofer, Angelika; Hüffmeier, Ulrike; Hunt, Sarah E; Irvine, Alan D; Jankowski, Janusz; Kirby, Brian; Langford, Cordelia; Lascorz, Jesús; Leman, Joyce; Leslie, Stephen; Mallbris, Lotus; Markus, Hugh S; Mathew, Christopher G; McLean, WH Irwin; McManus, Ross; Mössner, Rotraut; Moutsianas, Loukas; Naluai, Asa T; Nestle, Frank O; Novelli, Giuseppe; Onoufriadis, Alexandros; Palmer, Colin NA; Perricone, Carlo; Pirinen, Matti; Plomin, Robert; Potter, Simon C; Pujol, Ramon M; Rautanen, Anna; Riveira-Munoz, Eva; Ryan, Anthony W; Salmhofer, Wolfgang; Samuelsson, Lena; Sawcer, Stephen J; Schalkwijk, Joost; Smith, Catherine H; Ståhle, Mona; Su, Zhan; Tazi-Ahnini, Rachid; Traupe, Heiko; Viswanathan, Ananth C; Warren, Richard B; Weger, Wolfgang; Wolk, Katarina; Wood, Nicholas; Worthington, Jane; Young, Helen S; Zeeuwen, Patrick LJM; Hayday, Adrian; Burden, A David; Griffiths, Christopher EM; Kere, Juha; Reis, André; McVean, Gilean; Evans, David M; Brown, Matthew A; Barker, Jonathan N; Peltonen, Leena; Donnelly, Peter; Trembath, Richard C; (2010) A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nature genetics, 42 (11). pp. 985-990. ISSN 1061-4036 DOI: https://doi.org/10.1038/ng.694

الاتاحة: https://researchonline.lshtm.ac.uk/id/eprint/2143/

المؤلفون: Corden, Laura D, McLean, WH Irwin, Irvine, Alan D

المصدر: Encyclopedia of Life Sciences ; ISBN 9780470016176 9780470015902

الاتاحة: http://dx.doi.org/10.1038/npg.els.0005525
https://onlinelibrary.wiley.com/doi/pdf/10.1038/npg.els.0005525
https://onlinelibrary.wiley.com/doi/full-xml/10.1038/npg.els.0005525