Human Gene Mapping 10

Por Yates, John R W
Publicado em 1990

Evaluation of questionnaire on cancer family history in identifying patients at increased genetic risk in general practice

Por Leggatt, Virginia, Mackay, James, Yates, John R W
Publicado em 1999

Analysis of copy number variation at DMBT1 and age-related macular degeneration

Por Polley, Shamik, Cipriani, Valentina, Khan, Jane C., Shahid, Humma, Moore, Anthony T., Yates, John R. W., Hollox, Edward J.
Publicado no BMC Med Genet (2016)

Association of C-Reactive Protein Genetic Polymorphisms With Late Age-Related Macular Degeneration

Por Cipriani, Valentina, Hogg, Ruth E., Sofat, Reecha, Moore, Anthony T., Webster, Andrew R., Yates, John R. W., Fletcher, Astrid E.
Publicado no JAMA Ophthalmol (2017)

Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms?

Por Tye, Charlotte, Thomas, Laura E., Sampson, Julian R., Lewis, Julia, O'Callaghan, Finbar, Yates, John R. W., Bolton, Patrick F.
Publicado no Epilepsia Open (2018)

Variation in the Vitreous Phenotype of Stickler Syndrome Can Be Caused by Different Amino Acid Substitutions in the X Position of the Type II Collagen Gly-X-Y Triple Helix

Por Richards, Allan J., Baguley, David M., Yates, John R. W., Lane, Carol, Nicol, Mary, Harper, Peter S., Scott, John D., Snead, Martin P.
Publicado em 2000

Long‐term cognitive outcomes in tuberous sclerosis complex

Por Tye, Charlotte, Mcewen, Fiona S, Liang, Holan, Underwood, Lisa, Woodhouse, Emma, Barker, Edward D, Sheerin, Fintan, Yates, John R W, Bolton, Patrick F
Publicado no Dev Med Child Neurol (2019)

Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)

Por Meyer, Esther, Lim, Derek, Pasha, Shanaz, Tee, Louise J., Rahman, Fatimah, Yates, John R. W., Woods, C. Geoffrey, Reik, Wolf, Maher, Eamonn R.
Publicado em 2009

Genetic variation in complement regulators and susceptibility to age-related macular degeneration

Por Cipriani, Valentina, Matharu, Baljinder K., Khan, Jane C., Shahid, Humma, Stanton, Chloe M., Hayward, Caroline, Wright, Alan F., Bunce, Catey, Clayton, David G., Moore, Anthony T., Yates, John R.W.
Publicado em 2012

Complement Factor D in Age-Related Macular Degeneration

Por Stanton, Chloe M., Yates, John R.W., den Hollander, Anneke I., Seddon, Johanna M., Swaroop, Anand, Stambolian, Dwight, Fauser, Sascha, Hoyng, Carel, Yu, Yi, Atsuhiro, Kanda, Branham, Kari, Othman, Mohammad, Chen, Wei, Kortvely, Elod, Chalmers, Kevin, Hayward, Caroline, Moore, Anthony T., Dhillon, Baljean, Ueffing, Marius, Wright, Alan F.
Publicado em 2011

Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration

Por Cipriani, Valentina, Lorés-Motta, Laura, He, Fan, Fathalla, Dina, Tilakaratna, Viranga, McHarg, Selina, Bayatti, Nadhim, Acar, İlhan E., Hoyng, Carel B., Fauser, Sascha, Moore, Anthony T., Yates, John R. W., de Jong, Eiko K., Morgan, B. Paul, den Hollander, Anneke I., Bishop, Paul N., Clark, Simon J.
Publicado no Nat Commun (2020)

Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

Por Hackett, Anna, Tarpey, Patrick S, Licata, Andrea, Cox, James, Whibley, Annabel, Boyle, Jackie, Rogers, Carolyn, Grigg, John, Partington, Michael, Stevenson, Roger E, Tolmie, John, Yates, John R W, Turner, Gillian, Wilson, Meredith, Futreal, Andrew P, Corbett, Mark, Shaw, Marie, Gecz, Jozef, Raymond, F Lucy, Stratton, Michael R, Schwartz, Charles E, Abidi, Fatima E
Publicado em 2010

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

Por van Bokhoven, Hans, Hamel, Ben C. J., Bamshad, Mike, Sangiorgi, Eugenio, Gurrieri, Fiorella, Duijf, Pascal H. G., Vanmolkot, Kaate R. J., van Beusekom, Ellen, van Beersum, Sylvia E. C., Celli, Jacopo, Merkx, Gerard F. M., Tenconi, Romano, Fryns, Jean Pierre, Verloes, Alain, Newbury-Ecob, Ruth A., Raas-Rotschild, Annick, Majewski, Frank, Beemer, Frits A., Janecke, Andreas, Chitayat, David, Crisponi, Giangiorgio, Kayserili, Hülya, Yates, John R. W., Neri, Giovanni, Brunner, Han G.
Publicado em 2001

Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration

Por Ansari, Morad, Mckeigue, Paul M., Skerka, Christine, Hayward, Caroline, Rudan, Igor, Vitart, Veronique, Polasek, Ozren, Armbrecht, Ana-Maria, Yates, John R.W., Vatavuk, Zoran, Bencic, Goran, Kolcic, Ivana, Oostra, Ben A., Van Duijn, Cornelia M., Campbell, Susan, Stanton, Chloe M., Huffman, Jennifer, Shu, Xinhua, Khan, Jane C., Shahid, Humma, Harding, Simon P., Bishop, Paul N., Deary, Ian J., Moore, Anthony T., Dhillon, Baljean, Rudan, Pavao, Zipfel, Peter F., Sim, Robert B., Hastie, Nicholas D., Campbell, Harry, Wright, Alan F.
Publicado em 2013

Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB–FKBPL–NOTCH4 region of chromosome 6p21.3

Por Cipriani, Valentina, Leung, Hin-Tak, Plagnol, Vincent, Bunce, Catey, Khan, Jane C., Shahid, Humma, Moore, Anthony T., Harding, Simon P., Bishop, Paul N., Hayward, Caroline, Campbell, Susan, Armbrecht, Ana Maria, Dhillon, Baljean, Deary, Ian J., Campbell, Harry, Dunlop, Malcolm, Dominiczak, Anna F., Mann, Samantha S., Jenkins, Sharon A., Webster, Andrew R., Bird, Alan C., Lathrop, Mark, Zelenika, Diana, Souied, Eric H., Sahel, José-Alain, Léveillard, Thierry, Cree, Angela J., Gibson, Jane, Ennis, Sarah, Lotery, Andrew J., Wright, Alan F., Clayton, David G., Yates, John R.W.
Publicado em 2012

Evidence of association of APOE with age-related macular degeneration - a pooled analysis of 15 studies

Por McKay, Gareth J., Patterson, Chris C., Chakravarthy, Usha, Dasari, Shilpa, Klaver, Caroline C., Vingerling, Johannes R., Ho, Lintje, de Jong, Paulus T.V.M., Fletcher, Astrid E., Young, Ian S., Seland, Johan H., Rahu, Mati, Soubrane, Gisele, Tomazzoli, Laura, Topouzis, Fotis, Vioque, Jesus, Hingorani, Aroon D., Sofat, Reecha, Dean, Michael, Sawitzke, Julie, Seddon, Johanna M., Peter, Inga, Webster, Andrew R., Moore, Anthony T., Yates, John R.W., Cipriani, Valentina, Fritsche, Lars G., Weber, Bernhard H.F., Keilhauer, Claudia N., Lotery, Andrew J., Ennis, Sarah, Klein, Michael L., Francis, Peter J., Stambolian, Dwight, Orlin, Anton, Gorin, Michael B., Weeks, Daniel E., Kuo, Chia-Ling, Swaroop, Anand, Othman, Mohammad, Kanda, Atsuhiro, Chen, Wei, Abecasis, Goncalo R., Wright, Alan F., Hayward, Caroline, Baird, Paul N., Guymer, Robyn H., Attia, John, Thakkinstian, Ammarin, Silvestri, Giuliana
Publicado em 2011

Identification of a Rare Coding Variant in Complement 3 Associated with Age-related Macular Degeneration

Por Zhan, Xiaowei, Larson, David E., Wang, Chaolong, Koboldt, Daniel C., Sergeev, Yuri V., Fulton, Robert S., Fulton, Lucinda L., Fronick, Catrina C., Branham, Kari E., Bragg-Gresham, Jennifer, Jun, Goo, Hu, Youna, Kang, Hyun Min, Liu, Dajiang, Othman, Mohammad, Brooks, Matthew, Ratnapriya, Rinki, Boleda, Alexis, Grassmann, Felix, von Strachwitz, Claudia, Olson, Lana M., Buitendijk, Gabriëlle H.S., Hofman, Albert, van Duijn, Cornelia M., Cipriani, Valentina, Moore, Anthony T., Shahid, Humma, Jiang, Yingda, Conley, Yvette P., Morgan, Denise J., Kim, Ivana K., Johnson, Matthew P., Cantsilieris, Stuart, Richardson, Andrea J., Guymer, Robyn H., Luo, Hongrong, Ouyang, Hong, Licht, Christoph, Pluthero, Fred G., Zhang, Mindy M., Zhang, Kang, Baird, Paul N., Blangero, John, Klein, Michael L., Farrer, Lindsay A., DeAngelis, Margaret M., Weeks, Daniel E., Gorin, Michael B., Yates, John R.W., Klaver, Caroline C.W., Pericak-Vance, Margaret A., Haines, Jonathan L., Weber, Bernhard H.F., Wilson, Richard K., Heckenlively, John R., Chew, Emily Y., Stambolian, Dwight, Mardis, Elaine R., Swaroop, Anand, Abecasis, Goncalo R.
Publicado em 2013

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Por Fritsche, Lars G., Igl, Wilmar, Cooke Bailey, Jessica N., Grassmann, Felix, Sengupta, Sebanti, Bragg-Gresham, Jennifer L., Burdon, Kathryn P., Hebbring, Scott J., Wen, Cindy, Gorski, Mathias, Kim, Ivana K., Cho, David, Zack, Donald, Souied, Eric, Scholl, Hendrik P. N., Bala, Elisa, Lee, Kristine E., Hunter, David J., Sardell, Rebecca J., Mitchell, Paul, Merriam, Joanna E., Cipriani, Valentina, Hoffman, Joshua D., Schick, Tina, Lechanteur, Yara T. E., Guymer, Robyn H., Johnson, Matthew P., Jiang, Yingda, Stanton, Chloe M., Buitendijk, Gabriëlle H. S., Zhan, Xiaowei, Kwong, Alan M., Boleda, Alexis, Brooks, Matthew, Gieser, Linn, Ratnapriya, Rinki, Branham, Kari E., Foerster, Johanna R., Heckenlively, John R., Othman, Mohammad I., Vote, Brendan J., Liang, Helena Hai, Souzeau, Emmanuelle, McAllister, Ian L., Isaacs, Timothy, Hall, Janette, Lake, Stewart, Mackey, David A., Constable, Ian J., Craig, Jamie E., Kitchner, Terrie E., Yang, Zhenglin, Su, Zhiguang, Luo, Hongrong, Chen, Daniel, Ouyang, Hong, Flagg, Ken, Lin, Danni, Mao, Guanping, Ferreyra, Henry, Stark, Klaus, von Strachwitz, Claudia N., Wolf, Armin, Brandl, Caroline, Rudolph, Guenther, Olden, Matthias, Morrison, Margaux A., Morgan, Denise J., Schu, Matthew, Ahn, Jeeyun, Silvestri, Giuliana, Tsironi, Evangelia E., Park, Kyu Hyung, Farrer, Lindsay A., Orlin, Anton, Brucker, Alexander, Li, Mingyao, Curcio, Christine, Mohand-Saïd, Saddek, Sahel, José-Alain, Audo, Isabelle, Benchaboune, Mustapha, Cree, Angela J., Rennie, Christina A., Goverdhan, Srinivas V., Grunin, Michelle, Hagbi-Levi, Shira, Campochiaro, Peter, Katsanis, Nicholas, Holz, Frank G., Blond, Frédéric, Blanché, Hélène, Deleuze, Jean-François, Igo, Robert P., Truitt, Barbara, Peachey, Neal S., Meuer, Stacy M., Myers, Chelsea E., Moore, Emily L., Klein, Ronald, Hauser, Michael A., Postel, Eric A., Courtenay, Monique D., Schwartz, Stephen G., Kovach, Jaclyn L., Scott, William K., Liew, Gerald, Tƒan, Ava G., Gopinath, Bamini, Merriam, John C., Smith, R. Theodore, Khan, Jane C., Shahid, Humma, Moore, Anthony T., McGrath, J. Allie, Laux, Reneé, Brantley, Milam A., Agarwal, Anita, Ersoy, Lebriz, Caramoy, Albert, Langmann, Thomas, Saksens, Nicole T. M., de Jong, Eiko K., Hoyng, Carel B., Cain, Melinda S., Richardson, Andrea J., Martin, Tammy M., Blangero, John, Weeks, Daniel E., Dhillon, Bal, van Duijn, Cornelia M., Doheny, Kimberly F., Romm, Jane, Klaver, Caroline C. W., Hayward, Caroline, Gorin, Michael B., Klein, Michael L., Baird, Paul N., den Hollander, Anneke I., Fauser, Sascha, Yates, John R. W., Allikmets, Rando, Wang, Jie Jin, Schaumberg, Debra A., Klein, Barbara E. K., Hagstrom, Stephanie A., Chowers, Itay, Lotery, Andrew J., Léveillard, Thierry, Zhang, Kang, Brilliant, Murray H., Hewitt, Alex W., Swaroop, Anand, Chew, Emily Y., Pericak-Vance, Margaret A., DeAngelis, Margaret, Stambolian, Dwight, Haines, Jonathan L., Iyengar, Sudha K., Weber, Bernhard H. F., Abecasis, Gonçalo R., Heid, Iris M.
Publicado no Nat Genet (2015)