المؤلفون: Nikkel, Sarah M, Dauber, Andrew, de Munnik, Sonja, Connolly, Meghan, Hood, Rebecca L, Caluseriu, Oana, Hurst, Jane, Kini, Usha, Nowaczyk, Malgorzata J M, Afenjar, Alexandra, Albrecht, Beate, Allanson, Judith E, Balestri, Paolo, Ben-Omran, Tawfeg, Brancati, Francesco, Cordeiro, Isabel, da Cunha, Bruna Santos, Delaney, Louisa A, Destrée, Anne, Fitzpatrick, David, Forzano, Francesca, Ghali, Neeti, Gillies, Greta, Harwood, Katerina, Hendriks, Yvonne M C, Héron, Delphine, Hoischen, Alexander, Honey, Engela Magdalena, Hoefsloot, Lies H, Ibrahim, Jennifer, Jacob, Claire M, Kant, Sarina G, Kim, Chong Ae, Kirk, Edwin P, Knoers, Nine V A M, Lacombe, Didier, Lee, Chung, Lo, Ivan F M, Lucas, Luiza S, Mari, Francesca, Mericq, Veronica, Moilanen, Jukka S, Møller, Sanne Traasdahl, Moortgat, Stephanie, Pilz, Daniela T, Pope, Kate, Price, Susan, Renieri, Alessandra, Sá, Joaquim, Schoots, Jeroen, Silveira, Elizabeth L, Simon, Marleen E H, Slavotinek, Anne, Temple, I Karen, van der Burgt, Ineke, de Vries, Bert B A, Weisfeld-Adams, James D, Whiteford, Margo L, Wierczorek, Dagmar, Wit, Jan M, Yee, Connie Fung On, Beaulieu, Chandree L, cpgdsconsortium@cheo.on.ca, White, Sue M, Bulman, Dennis E, Bongers, Ernie, Brunner, Han, Feingold, Murray, Boycott, Kym M

المصدر: Orphanet Journal of Rare Diseases. 8(1)

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6r91w5r2

المؤلفون: Botzenhart, Elke M., Bartalini, Gabriella, Blair, Edward, Brady, Angela F., Elmslie, Frances, Chong, Karen L., Christy, Katie, Torres-Martinez, Wilfredo, Danesino, Cesare, Deardorff, Matthew A., Fryns, Jean-Pierre, Marlin, Sandrine, Garcia-Minaur, Sixto, Hellenbroich, Yorck, Hay, Beverly N., Penttinen, Maila, Shashi, Vandana, Terhal, Paulien, Van Maldergem, Lionel, Whiteford, Margo L., Zackai, Elaine, Kohlhase, Jurgen

المساهمون: Department of Pediatrics

المصدر: Human mutation ; 28 ; 2 ; 204-5

مصطلحات موضوعية: Abnormalities, Multiple, Child, Preschool, DNA Mutational Analysis, Female, Genotype, Humans, Infant, Newborn, Male, Middle Aged, Mutation, Pedigree, Phenotype, Syndrome, Transcription Factors, Genetics and Genomics, Medical Genetics, Pediatrics

Relation: Link to Article in PubMed; http://dx.doi.org/10.1002/humu.9476; Hum Mutat. 2007 Feb;28(2):204-5. Link to article on publisher's site; 1059-7794 (Linking); http://hdl.handle.net/20.500.14038/43269; https://escholarship.umassmed.edu/peds_genetics/13; 2742433; peds_genetics/13

الاتاحة: https://doi.org/10.1002/humu.9476
https://hdl.handle.net/20.500.14038/43269
https://escholarship.umassmed.edu/peds_genetics/13

المؤلفون: Nikkel, Sarah M., Dauber, Andrew, De Munnik, Sonja, Connolly, Meghan, Hood, Rebecca L, Caluseriu, Oana, Hurst, Jane, Kini, Usha, Nowaczyk, Malgorzata J.M., Afenjar, Alexandra, Albrecht, Beate, Allanson, Judith E., Balestri, Paolo, Ben-Omran, Tawfeg, Brancati, Francesco, Cordeiro, Isabel, Da Cunha, Bruna Santos, Delaney, Louisa A., Destree, Anne, Fitzpatrick, David, Forzano, Francesca, Ghali, Neeti, Gillies, Greta, Harwood, Katerina, Hendriks, Yvonne M.C., Heron, Delphine, Hoischen, Alexander, Honey, Engela M., Hoefsloot, Lies H., Ibrahim, Jennifer, Jacob, Claire M., Kant, Sarina G., Kim, Chong Ae, Kirk, Edwin P., Knoers, Nine V.A.M., Lacombe, Didier, Lee, Chung, Lo, Ivan F.M., Lucas, Luiza S., Mari, Francesca, Mericq, Veronica, Moilanen, Jukka S., Møller, Sanne Traasdahl, Moortgat, Stephanie, Pilz, Daniela T., Pope, Kate, Price, Susan, Renieri, Alessandra, Sa, Joaquim, Schoots, Jeroen, Silveira, Elizabeth L., Simon, Marleen E.H., Slavotinek, Anne, Temple, I. Karen, Van der Burgt, Ineke, De Vries, Bert B.A., Weisfeld-Adams, James D., Whiteford, Margo L., Wit, Jan M., Yee, Connie Fung On, Beaulieu, Chandree L., FORGE Canada Consortium, White, Sue M., Bulman, Dennis E., Bongers, Ernie, Brunner, Han, Feingold, Murray, Boycott, Kym M.

مصطلحات موضوعية: SRCAP, Phenotype, Short stature, Floating-Harbor syndrome (FHS)

وصف الملف: application/pdf

Relation: Nikkel et al.: The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet Journal of Rare Diseases 2013 8:63.; http://hdl.handle.net/2263/40307

الاتاحة: http://hdl.handle.net/2263/40307
https://doi.org/10.1186/1750-1172-8-63

المؤلفون: Hood, Rebecca L., Lines, Matthew A., Nikkel, Sarah M., Schwartzentruber, Jeremy, Beaulieu, Chandree, Nowaczyk, Małgorzata J.M., Allanson, Judith, Kim, Chong Ae, Wieczorek, Dagmar, Moilanen, Jukka S., Lacombe, Didier, Gillessen-Kaesbach, Gabriele, Whiteford, Margo L., Quaio, Caio Robledo D.C., Gomy, Israel, Bertola, Debora R., Albrecht, Beate, Platzer, Konrad, McGillivray, George, Zou, Ruobing, McLeod, D. Ross, Chudley, Albert E., Chodirker, Bernard N., Marcadier, Janet, Majewski, Jacek, Bulman, Dennis E., White, Susan M., Boycott, Kym M.

المصدر: The American Journal of Human Genetics ; volume 90, issue 2, page 308-313 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2011.12.001
https://api.elsevier.com/content/article/PII:S0002929711005362?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929711005362?httpAccept=text/plain

المؤلفون: Rice, Gillian, Patrick, Teresa, Parmar, Rekha, Taylor, Claire F., Aeby, Alec, Aicardi, Jean, Artuch, Rafael, Montalto, Simon Attard, Bacino, Carlos A., Barroso, Bruno, Baxter, Peter, Benko, Willam S., Bergmann, Carsten, Bertini, Enrico, Biancheri, Roberta, Blair, Edward M., Blau, Nenad, Bonthron, David T., Briggs, Tracy, Brueton, Louise A., Brunner, Han G., Burke, Christopher J., Carr, Ian M., Carvalho, Daniel R., Chandler, Kate E., Christen, Hans Jürgen, Corry, Peter C., Cowan, Frances M., Cox, Helen, D'Arrigo, Stefano, Dean, John, De Laet, Corinne, De Praeter, Claudine, Déry, Catherine, Ferrie, Colin D., Flintoff, Kim, Frints, Suzanna G.M., Garcia-Cazorla, Angels, Gener, Blanca, Goizet, Cyril, Goutières, Françoise, Green, Andrew J., Guët, Agnès, Hamel, Ben C.J., Hayward, Bruce E., Heiberg, Arvid, Hennekam, Raoul C., Husson, Marie, Jackson, Andrew P., Jayatunga, Rasieka, Jiang, Yong Hui, Kant, Sarina G., Kao, Amy, King, Mary D., Kingston, Helen M., Klepper, Joerg, Van Der Knaap, Marjo S., Kornberg, Andrew J., Kotzot, Dieter, Kratzer, Wilfried, Lacombe, Didier, Lagae, Lieven, Landrieu, Pierre Georges, Lanzi, Giovanni, Leitch, Andrea, Lim, Ming J., Livingston, John H., Lourenco, Charles M., Lyall, E. G.Hermione, Lynch, Sally A., Lyons, Michael J., Marom, Daphna, McClure, John P., McWilliam, Robert, Melancon, Serge B., Mewasingh, Leena D., Moutard, Marie Laure, Nischal, Ken K., Østergaard, John R., Prendiville, Julie, Rasmussen, Magnhild, Rogers, R. Curtis, Roland, Dominique, Rosser, Elisabeth M., Rostasy, Kevin, Roubertie, Agathe, Sanchis, Amparo, Schiffmann, Raphael, Scholl-Bürgi, Sabine, Seal, Sunita, Shalev, Stavit A., Corcoles, C. Sierra, Sinha, Gyan P., Soler, Doriette, Spiegel, Ronen, Stephenson, John B.P., Tacke, Uta, Tiong, Yang Tan, Till, Marianne, Tolmie, John L., Tomlin, Pam, Vagnarelli, Federica, Valente, Enza Maria, Van Coster, Rudy N.A., Van Der Aa, Nathalie, Vanderver, Adeline, Vles, Johannes S.H., Voit, Thomas, Wassmer, Evangeline, Weschke, Bernhard, Whiteford, Margo L., Willemsen, Michel A.A., Zankl, Andreas, Zuberi, Sameer M., Orcesi, Simona, Fazzi, Elisa, Lebon, Pierre, Crow, Yanick J.

المصدر: Rice , G , Patrick , T , Parmar , R , Taylor , C F , Aeby , A , Aicardi , J , Artuch , R , Montalto , S A , Bacino , C A , Barroso , B , Baxter , P , Benko , W S , Bergmann , C , Bertini , E , Biancheri , R , Blair , E M , Blau , N , Bonthron , D T , Briggs , T , Brueton , L A , Brunner , H G , Burke , C J , Carr , ....

الاتاحة: https://research.vumc.nl/en/publications/679ce1b1-4494-45c0-822d-b1e0d1619319
https://doi.org/10.1086/521373
http://www.scopus.com/inward/record.url?scp=35349019691&partnerID=8YFLogxK

المؤلفون: Aganna, Ebun, Hammond, Linda, Hawkins, Philip N., Aldea, Anna, McKee, Shane A., van Amstel, Hans Kristian Ploos, Mischung, Claudia, Kusuhara, Koichi, Saulsbury, Frank T., Lachmann, Helen J., Bybee, Alison, McDermott, Elizabeth M., La Regina, Micaela, Arostegui, Juan I., Campistol, Josep M., Worthington, Sharron, High, Kevin P., Molloy, Michael G., Baker, Nicholas, Bidwell, Jeff L., Castañer, José L., Whiteford, Margo L., Janssens‐Korpola, P. L., Manna, Raffaele, Powell, Richard J., Woo, Patricia, Solis, Pilar, Minden, Kirsten, Frenkel, Joost, Yagüe, Jordi, Mirakian, Rita M., Hitman, Graham A., McDermott, Michael F.

المساهمون: Wellcome Trust, Marató de TV3, Medical Research Council, UK

المصدر: Arthritis & Rheumatism ; volume 48, issue 9, page 2632-2644 ; ISSN 0004-3591 1529-0131

الاتاحة: http://dx.doi.org/10.1002/art.11215
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fart.11215
https://onlinelibrary.wiley.com/doi/pdf/10.1002/art.11215

المؤلفون: Oh, Jangsuk, Ho, Lingling, Ala-Mello, Sirpa, Amato, Dominick, Armstrong, Linda, Bellucci, Sylvia, Carakushansky, Gerson, Ellis, Julia P., Fong, Chin-To, Green, Jane S., Heon, Elise, Legius, Eric, Levin, Alex V., Nieuwenhuis, H. Karel, Pinckers, A., Tamura, Naoaki, Whiteford, Margo L., Yamasaki, Hisato, Spritz, Richard A.

المصدر: The American Journal of Human Genetics ; volume 62, issue 3, page 593-598 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1086/301757
https://api.elsevier.com/content/article/PII:S0002929707638397?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929707638397?httpAccept=text/plain

المؤلفون: Gazdagh, Gabriella E., Sangra, Meharpal, Butler, Sandra, Whiteford, Margo L.

المصدر: Clinical Dysmorphology ; volume 26, issue 4, page 238-242 ; ISSN 0962-8827

الاتاحة: http://dx.doi.org/10.1097/mcd.0000000000000187
https://journals.lww.com/00019605-201710000-00011

المؤلفون: Whiteford, Margo L.

المصدر: Reproductive Toxicology ; volume 48, page 10 ; ISSN 0890-6238

الاتاحة: http://dx.doi.org/10.1016/j.reprotox.2014.07.067
https://api.elsevier.com/content/article/PII:S0890623814001774?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0890623814001774?httpAccept=text/plain

المؤلفون: Wu, Pensée, Whiteford, Margo L., Cameron, Alan D.

المصدر: Obstetrics, Gynaecology & Reproductive Medicine ; volume 24, issue 3, page 67-73 ; ISSN 1751-7214

الاتاحة: http://dx.doi.org/10.1016/j.ogrm.2014.01.003
https://api.elsevier.com/content/article/PII:S1751721414000049?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1751721414000049?httpAccept=text/plain

المؤلفون: Boyden, Lynn M., Choi, Murim, Choate, Keith A., Nelson-Williams, Carol J., Farhi, Anita, Toka, Hakan R., Tikhonova, Irina R., Bjornson, Robert, Mane, Shrikant M., Colussi, Giacomo, Lebel, Marcel, Gordon, Richard D., Semmekrot, BA, Poujol, Alain, Valimaki, Matti J., De Ferrari, Maria E., Sanjad, Sami A., Gutkin, Michael, Karet, Fiona E., Tucci, JR, Stockigt, Jim R., Keppler-Noreuil, Kim M., Porter, Craig C., Anand, Sudhir K., Whiteford, Margo L., Davis, Ira D., Dewar, Stephanie B., Bettinelli, Alberto, Fadrowski, Jeff J., Belsha, Craig W., Hunley, Tracy E.

مصطلحات موضوعية: WNK Kinases, K+ Channel, Proteins, Sequence, 1000 General

Relation: P30-DK079310

الاتاحة: https://espace.library.uq.edu.au/view/UQ:268079

المؤلفون: Nedjai, Belinda, Hitman, Graham A., Church, Leigh D., Minden, Kirsten, Whiteford, Margo L., McKee, Shane, Stjernberg, Susanna, Pettersson, Tom, Ranki, Annamari, Hawkins, Philip N., Arkwright, Peter D., McDermott, Michael F., Turner, Mark D.

المصدر: Nedjai , B , Hitman , G A , Church , L D , Minden , K , Whiteford , M L , McKee , S , Stjernberg , S , Pettersson , T , Ranki , A , Hawkins , P N , Arkwright , P D , McDermott , M F & Turner , M D 2011 , ' Differential cytokine secretion results from p65 and c-Rel NF-κB subunit signaling in peripheral blood mononuclear cells of TNF receptor-associated periodic syndrome patients ' , Cellular Immunology , vol. 268 , no. 2 , pp. 55-59 . https://doi.org/10.1016/j.cellimm.2011.02.007

مصطلحات موضوعية: Chemokine, Cytokine, Interleukin, Nuclear factor κB, Tumor necrosis factor

Relation: https://research.manchester.ac.uk/en/publications/3e013ae8-0368-4bcb-8704-5e7ec6e11b91

الاتاحة: https://research.manchester.ac.uk/en/publications/3e013ae8-0368-4bcb-8704-5e7ec6e11b91
https://doi.org/10.1016/j.cellimm.2011.02.007

المؤلفون: Milunsky, Jeff M, Maher, Tom M, Zhao, Geping P, Wang, Zhenyuan, Mulliken, John B, Chitayat, David, Clemens, Michele, Stalker, Heather J, Bauer, Mislen, Burch, Michele, Chenier, Sébastien, Cunningham, Michael L, Drack, Arlene V, Janssens, Sandra, Karlea, Audrey, Klatt, Regan, Kini, Usha, Klein, Ophir, Lachmeijer, Augusta M, Megarbane, Andre, Mendelsohn, Nancy J, Meschino, Wendy S, Mortier, Geert, Parkash, Sandhya, Ray, Cenai R, Roberts, Angharad, Roberts, Amy, Reardon, Willie, Schnur, Rhonda E, Smith, Rosemarie, Splitt, Miranda, Tezcan, Kamer, Whiteford, Margo L, Wong, Derek A, Zori, Roberto, Lin, Angela E

المصدر: AMERICAN JOURNAL OF MEDICAL GENETICS PART A ; ISSN: 1552-4825

مصطلحات موضوعية: Medicine and Health Sciences, branchio-oculo-facial syndrome, cleft lip/palate, mutation analysis, neurocristopathy, TFAP2A, CHARGE SYNDROME, INTERSTITIAL DELETION, MOLECULAR ANALYSES, INNER-EAR, PATIENT, AP-2

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/1164795; http://hdl.handle.net/1854/LU-1164795; http://dx.doi.org/10.1002/ajmg.a.33783; https://biblio.ugent.be/publication/1164795/file/6748498

الاتاحة: https://biblio.ugent.be/publication/1164795
http://hdl.handle.net/1854/LU-1164795
https://doi.org/10.1002/ajmg.a.33783
https://biblio.ugent.be/publication/1164795/file/6748498

المؤلفون: McWilliam, Catherine A., Devlin, Mark F., Joss, Shelagh K., Koppel, David A., Longman, Cheryl, Ray, Arup, Whiteford, Margo L.

المصدر: Clinical Dysmorphology ; volume 20, issue 2, page 89-91 ; ISSN 0962-8827

الاتاحة: http://dx.doi.org/10.1097/mcd.0b013e3283428f60
https://journals.lww.com/00019605-201104000-00008

المؤلفون: White, Susan M., Morgan, Angela, Da Costa, Annette, Lacombe, Didier, Knight, Samantha J.L., Houlston, Richard, Whiteford, Margo L., Newbury‐Ecob, Ruth A., Hurst, Jane A.

المصدر: American Journal of Medical Genetics Part A ; volume 152A, issue 4, page 821-829 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.33294
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.33294
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.33294

المؤلفون: Botzenhart, Elke M, Bartalini, Gabriella, Blair, Edward, Brady, Angela F, Elmslie, Frances, Chong, Karen L, Christy, Katie, Torres-Martinez, Wilfredo, Danesino, Cesare, Deardorff, Matthew A, Fryns, Jean-Pierre, Marlin, Sandrine, Garcia-Minaur, Sixto, Hellenbroich, Yorck, Hay, Beverly N, Penttinen, Maila, Shashi, Vandana, Terhal, Paulien, Van Maldergem, Lionel, Whiteford, Margo L, Zackai, Elaine, Kohlhase, Jürgen

مصطلحات موضوعية: Abnormalities, Multiple, Child, Preschool, DNA Mutational Analysis, Female, Genotype, Humans, Infant, Newborn, Male, Middle Aged, Mutation, Pedigree, Phenotype, Syndrome, Transcription Factors

Relation: Human Mutation vol:28 issue:2 pages:204-5; https://lirias.kuleuven.be/handle/123456789/246742

الاتاحة: https://lirias.kuleuven.be/handle/123456789/246742

المؤلفون: Botzenhart, Elke Maria, Green, Andrew, Ilyina, Helena, Koenig, Rainer, Lowry, R. Brian, Lo, Ivan F. M., Shohat, Mordechai, Burke, Leah, McGaughran, Julie, Chafai, Ronit, Pierquin, Geneviève, Michaelis, Ron C, Whiteford, Margo L., Simola, Kalle O. J., Rösler, Bernd, Kohlhase, Jürgen

المصدر: Human Mutation. - 26, 3 (2005) , 282-282, ISSN: 1059-7794

Relation: https://freidok.uni-freiburg.de/data/52838

الاتاحة: https://freidok.uni-freiburg.de/data/52838
https://doi.org/10.1002/humu.9362

المؤلفون: Tyson, Jessica, Tranebjærg, Lisbeth, McEntagart, Meriel, Larsen, Lars A., Christiansen, Michael, Whiteford, Margo L., Bathen, Jørn, Aslaksen, Bjørn, Sørland, Svein Jan, Lund, Ole, Pembrey, Marcus E., Malcolm, Sue, Bitner-Glindzicz, Maria

المصدر: Human Genetics; Nov2000, Vol. 107 Issue 5, p499-503, 5p

مصطلحات موضوعية: GENETICS of deafness, HEARING disorders, EAR diseases, DEAFNESS, AUDIOLOGY, HUMAN abnormalities