Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Sheri L Riccardi"'
Autor:
Joanne B Cole, Mange Manyama, Emmanuel Kimwaga, Joshua Mathayo, Jacinda R Larson, Denise K Liberton, Ken Lukowiak, Tracey M Ferrara, Sheri L Riccardi, Mao Li, Washington Mio, Michaela Prochazkova, Trevor Williams, Hong Li, Kenneth L Jones, Ophir D Klein, Stephanie A Santorico, Benedikt Hallgrimsson, Richard A Spritz
Publikováno v:
PLoS Genetics, Vol 12, Iss 8, p e1006174 (2016)
The human face is a complex assemblage of highly variable yet clearly heritable anatomic structures that together make each of us unique, distinguishable, and recognizable. Relatively little is known about the genetic underpinnings of normal human fa
Externí odkaz:
https://doaj.org/article/a6d7884b630c416db2d934ea347bf8ad
Autor:
Nils D. Forkert, Naomi Meeks, Amanda B. Neves, Brenda McInnes, Nicole Tartaglia, Shanlee M Davis, Ophir D. Klein, Anne Slavotinek, J. David Aponte, Jared A. J. Spitzmacher, Nick Mahasuwan, Anh M. Pham, Emily A. McCourt, Danika M. Lipman, Jordan J. Bannister, Joseph T. Shieh, A. Robertson Harrop, Ellen R. Elias, Tracey M. Ferrara, David C. Katz, Robert W. Enzenauer, Tim A. Benke, Elias Aboujaoude, Laura Pickler, Richard A. Spritz, Gary Bellus, Jonathan A. Bernstein, Sheri L. Riccardi, Shawn E. McCandless, Jacinda R. Larson, Pedro A. Sanchez-Lara, J. Patrick H. Wyse, Kathryn C. Chatfield, Francois P. Bernier, Brooke French, Anne C.-H. Tsai, Benedikt Hallgrímsson, A. Micheil Innes
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics, vol 22, iss 10
Genetics in Medicine
Genetics in Medicine
Purpose Deep phenotyping is an emerging trend in precision medicine for genetic disease. The shape of the face is affected in 30–40% of known genetic syndromes. Here, we determine whether syndromes can be diagnosed from 3D images of human faces. Me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f58acde39c4a32823262e3b701b879b1
https://doi.org/10.1038/s41436-020-0845-y
https://doi.org/10.1038/s41436-020-0845-y
Autor:
Mao Li, Ophir D. Klein, Benedikt Hallgrímsson, Tracey M. Ferrara, Mange Manyama, Washington Mio, Sheri L. Riccardi, Jacinda R. Larson, Joanne B. Cole, Denise K. Liberton, Richard A. Spritz, Stephanie A. Santorico
Publikováno v:
Genetics. 205:967-978
The human face is an array of variable physical features that together make each of us unique and distinguishable. Striking familial facial similarities underscore a genetic component, but little is known of the genes that underlie facial shape diffe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4befdd8b85d84f5fd6eb453c20b1878a
https://doi.org/10.1534/genetics.116.193185
https://doi.org/10.1534/genetics.116.193185
Autor:
Paula N. Gonzalez, Seth M. Weinberg, Emmanuel Kimwaga, Heather A. Jamniczky, Denise K. Liberton, Campbell Rolian, Jacinda R. Larson, Tracey M. Ferrara, Ophir D. Klein, Mange Manyama, Sheri L. Riccardi, Christopher J. Percival, Ken Lukowiak, Joshua Mathayo, Richard A. Spritz, Joanne B. Cole, Benedikt Hallgrímsson, Jared A. J. Spitzmacher, Charles C. Roseman
Publikováno v:
American journal of physical anthropology, vol 165, iss 2
OBJECTIVES Morphological integration, or the tendency for covariation, is commonly seen in complex traits such as the human face. The effects of growth on shape, or allometry, represent a ubiquitous but poorly understood axis of integration. We addre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::271b89a524362a79c5bdb0e38e6f12f5
https://escholarship.org/uc/item/0kn085v0
https://escholarship.org/uc/item/0kn085v0
Autor:
Pamela R. Fain, Mohmmad Shoab Mansuri, Sabrina S. Pal, Ying Jin, Sheri L. Riccardi, Fridoon Jawad Ahmad, Shakil Ahmad, Mitesh Dwivedi, Richard A. Spritz, Paulene J. Holland, Naresh C. Laddha, Songtao Ben, Katherine Gowan, Rasheedunnisa Begum, Stanca A. Birlea, Raza Mohy Uddin
Publikováno v:
The Journal of investigative dermatology
Birlea, S A, Ahmad, F J, Uddin, R M, Ahmad, S, Pal, S S, Begum, R, Laddha, N C, Dwivedi, M, Shoab Mansuri, M, Jin, Y, Gowan, K, Riccardi, S L, Holland, P J, Ben, S, Fain, P R & Spritz, R A 2013, ' Association of generalized vitiligo with MHC class II loci in patients from the Indian subcontinent ', Journal of Investigative Dermatology, vol. 133, no. 5, pp. 1369-72 . https://doi.org/10.1038/jid.2012.501
Birlea, S A, Ahmad, F J, Uddin, R M, Ahmad, S, Pal, S S, Begum, R, Laddha, N C, Dwivedi, M, Shoab Mansuri, M, Jin, Y, Gowan, K, Riccardi, S L, Holland, P J, Ben, S, Fain, P R & Spritz, R A 2013, ' Association of generalized vitiligo with MHC class II loci in patients from the Indian subcontinent ', Journal of Investigative Dermatology, vol. 133, no. 5, pp. 1369-72 . https://doi.org/10.1038/jid.2012.501
TO THE EDITOR Generalized vitiligo is a disease in which patches of depigmented skin and overlying hair result from autoimmune destruction of melanocytes in involved regions (Spritz, 2012). Clinic-based studies cite high prevalence of vitiligo in Ind
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c6521bb16eb4088c084a25a929a544c
Autor:
Stephanie A. Santorico, Joanne B. Cole, Jacinda R. Larson, Richard A. Spritz, Benedikt Hallgrímsson, Mao Li, Washington Mio, Jordan J. Bannister, Mange Manyama, Tracey M. Ferrara, Denise K. Liberton, Sheri L. Riccardi, Nils D. Forkert
Publikováno v:
Journal of anatomy. 230(4)
Automated phenotyping is essential for the creation of large, highly standardized datasets from anatomical imaging data. Such datasets can support large-scale studies of complex traits or clinical studies related to precision medicine or clinical tri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce02618cf88492015ebdde6f59e5139a
https://pubmed.ncbi.nlm.nih.gov/28078731
https://pubmed.ncbi.nlm.nih.gov/28078731
Autor:
Richard A. Spritz, Ophir D. Klein, Denise K. Liberton, Hong Li, Michaela Prochazkova, Jacinda R. Larson, Emmanuel Kimwaga, Trevor Williams, Tracey M. Ferrara, Kenneth L. Jones, Ken Lukowiak, Sheri L. Riccardi, Joanne B. Cole, Mange Manyama, Stephanie A. Santorico, Washington Mio, Joshua Mathayo, Benedikt Hallgrímsson, Mao Li
Publikováno v:
PLoS Genetics, Vol 12, Iss 8, p e1006174 (2016)
The human face is a complex assemblage of highly variable yet clearly heritable anatomic structures that together make each of us unique, distinguishable, and recognizable. Relatively little is known about the genetic underpinnings of normal human fa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b473ca9776c21f60ca17b90d6b118314
http://europepmc.org/articles/PMC4999243?pdf=render
http://europepmc.org/articles/PMC4999243?pdf=render
Autor:
Alain Taïeb, Deborah M. Herbstman, Giovanni Leone, Anthony P. Weetman, Margaret R. Wallace, E. Helen Kemp, Pamela R. Fain, David J. Gawkrodger, Paulene J. Holland, Thomas Jouary, Ying Jin, Katherine Gowan, Richard A. Spritz, Nanny van Geel, Mauro Picardo, Stanca A. Birlea, Dorothy C. Bennett, Sheri L. Riccardi, Khaled Ezzedine, Wayne T. McCormack, Jo Lambert, Andreas Overbeck
Publikováno v:
Journal of Investigative Dermatology. 131:1308-1312
Generalized vitiligo is a common autoimmune disease in which acquired patchy depigmentation of skin, hair, and mucous membranes results from loss of melanocytes from involved areas. Previous genetic analyses have focused on vitiligo susceptibility, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c00383516b8c160fbc9ef368936a22c8
https://doi.org/10.1038/jid.2011.12
https://doi.org/10.1038/jid.2011.12
Autor:
Pamela R. Fain, Jo Lambert, Christina M. Mailloux, Ying Jin, Stanca A. Birlea, Andreas Overbeck, Alain Taïeb, Margaret R. Wallace, Mauro Picardo, Sheri L. Riccardi, Dorothy C. Bennett, E. Helen Kemp, Paulene J. Holland, Khaled Ezzedine, Wayne T. McCormack, Anthony P. Weetman, Richard A. Spritz, Giovanni Leone, Nanny van Geel, Katherine Gowan, David J. Gawkrodger, Thomas Jouary
Publikováno v:
Nature genetics
In a recent genome-wide association study of generalized vitiligo, we identified ten confirmed susceptibility loci. By testing additional loci that showed suggestive association in the genome-wide study, using two replication cohorts of European desc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae5f2ad463b3a776f0624cd385289ea9
https://doi.org/10.1038/ng.602
https://doi.org/10.1038/ng.602
Autor:
Albert Wolkerstorfer, Stanca A. Birlea, Jo Lambert, Anthony P. Weetman, Alain Taieb, Nanette B. Silverberg, E. Helen Kemp, Andreas Overbeck, Margaret R. Wallace, Paulene J. Holland, Mauro Picardo, J.P. Wietze van der Veen, Wayne T. McCormack, Gerold Schuler, Thomas Jouary, Nanja van Geel, Richard A. Spritz, Katherine Gowan, Giovanni Leone, Ying Jin, Rosalie M. Luiten, Joanne B. Cole, Songtao Ben, Dorothy C. Bennett, Tracey M. Ferrara, A. Hartmann, Saskia Eichner, David J. Gawkrodger, Khaled Ezzedine, Sheri L. Riccardi, Pamela R. Fain
Publikováno v:
Nature genetics
Nature genetics, 44(6), 676-U94. Nature Publishing Group
Nature genetics, 44(6), 676-U94. Nature Publishing Group
We previously reported a genome-wide association study (GWAS) identifying 14 susceptibility loci for generalized vitiligo. We report here a second GWAS (450 individuals with vitiligo (cases) and 3,182 controls), an independent replication study (1,44
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6f8df3973a2c0c5c1972bdc7dc64698