A framework for the evaluation of patients with congenital facial weakness
Webb, Bryn D, Manoli, Irini, Engle, Elizabeth C, Jabs, Ethylin W
Published in Orphanet journal of rare diseases (07.04.2021)
Published in Orphanet journal of rare diseases (07.04.2021)
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Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome
Yeh, Erika, Fanganiello, Roberto D, Sunaga, Daniele Y, Zhou, Xueyan, Holmes, Gregory, Rocha, Katia M, Alonso, Nivaldo, Matushita, Hamilton, Wang, Yingli, Jabs, Ethylin W, Passos-Bueno, Maria Rita
Published in PloS one (04.04.2013)
Published in PloS one (04.04.2013)
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Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate
Beaty, Terri H., Ruczinski, Ingo, Murray, Jeffrey C., Marazita, Mary L., Munger, Ronald G., Hetmanski, Jacqueline B., Murray, Tanda, Redett, Richard J., Fallin, M. Daniele, Liang, Kung Yee, Wu, Tao, Patel, Poorav J., Jin, Sheng-Chih, Zhang, Tian Xiao, Schwender, Holger, Wu-Chou, Yah Huei, Chen, Philip K., Chong, Samuel S., Cheah, Felicia, Yeow, Vincent, Ye, Xiaoqian, Wang, Hong, Huang, Shangzhi, Jabs, Ethylin W., Shi, Bing, Wilcox, Allen J., Lie, Rolv T., Jee, Sun Ha, Christensen, Kaare, Doheny, Kimberley F., Pugh, Elizabeth W., Ling, Hua, Scott, Alan F.
Published in Genetic epidemiology (01.09.2011)
Published in Genetic epidemiology (01.09.2011)
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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules
Dodd, Daniel O, Mechaussier, Sabrina, Yeyati, Patricia L, McPhie, Fraser, Anderson, Jacob R, Khoo, Chen Jing, Shoemark, Amelia, Gupta, Deepesh K, Attard, Thomas, Zariwala, Maimoona A, Legendre, Marie, Bracht, Diana, Wallmeier, Julia, Gui, Miao, Fassad, Mahmoud R, Parry, David A, Tennant, Peter A, Meynert, Alison, Wheway, Gabrielle, Fares-Taie, Lucas, Black, Holly A, Mitri-Frangieh, Rana, Faucon, Catherine, Kaplan, Josseline, Patel, Mitali, McKie, Lisa, Megaw, Roly, Gatsogiannis, Christos, Mohamed, Mai A, Aitken, Stuart, Gautier, Philippe, Reinholt, Finn R, Hirst, Robert A, O'Callaghan, Chris, Heimdal, Ketil, Bottier, Mathieu, Escudier, Estelle, Crowley, Suzanne, Descartes, Maria, Jabs, Ethylin W, Kenia, Priti, Amiel, Jeanne, Bacci, Giacomo Maria, Calogero, Claudia, Palazzo, Viviana, Tiberi, Lucia, Blümlein, Ulrike, Rogers, Andrew, Wambach, Jennifer A, Wegner, Daniel J, Fulton, Anne B, Kenna, Margaret, Rosenfeld, Margaret, Holm, Ingrid A, Quigley, Alan, Hall, Emma A, Murphy, Laura C, Cassidy, Diane M, von Kriegsheim, Alex, Papon, Jean-François, Pasquier, Laurent, Murris, Marlène S, Chalmers, James D, Hogg, Claire, Macleod, Kenneth A, Urquhart, Don S, Unger, Stefan, Aitman, Timothy J, Amselem, Serge, Leigh, Margaret W, Knowles, Michael R, Omran, Heymut, Mitchison, Hannah M, Brown, Alan, Marsh, Joseph A, Welburn, Julie P I, Ti, Shih-Chieh, Horani, Amjad, Rozet, Jean-Michel, Perrault, Isabelle, Mill, Pleasantine
Published in Science (American Association for the Advancement of Science) (26.04.2024)
Published in Science (American Association for the Advancement of Science) (26.04.2024)
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Genotype-Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice
Lam, Austin S, Liu, Carrie C, Deutsch, Gail H, Rivera, Joshua, Perkins, Jonathan A, Holmes, Greg, Jabs, Ethylin W, Cunningham, Michael L, Dahl, John P
Published in The Laryngoscope (01.04.2021)
Published in The Laryngoscope (01.04.2021)
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Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies
Lehky, Tanya, Joseph, Reversa, Toro, Camilo, Wu, Tianxia, Van Ryzin, Carol, Gropman, Andrea, Facio, Flavia M., Webb, Bryn D., Jabs, Ethylin W., Barry, Brenda S., Engle, Elizabeth C., Collins, Francis S., Manoli, Irini
Published in Muscle & nerve (01.04.2021)
Published in Muscle & nerve (01.04.2021)
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Journal Article
Evidence for gene‐environment interaction in a genome wide study of nonsyndromic cleft palate
Beaty, Terri H., Ruczinski, Ingo, Murray, Jeffrey C., Marazita, Mary L., Munger, Ronald G., Hetmanski, Jacqueline B., Murray, Tanda, Redett, Richard J., Fallin, M. Daniele, Liang, Kung Yee, Wu, Tao, Patel, Poorav J., Jin, Sheng‐Chih, Zhang, Tian Xiao, Schwender, Holger, Wu‐Chou, Yah Huei, Chen, Philip K., Chong, Samuel S., Cheah, Felicia, Yeow, Vincent, Ye, Xiaoqian, Wang, Hong, Huang, Shangzhi, Jabs, Ethylin W., Shi, Bing, Wilcox, Allen J., Lie, Rolv T., Jee, Sun Ha, Christensen, Kaare, Doheny, Kimberley F., Pugh, Elizabeth W., Ling, Hua, Scott, Alan F.
Published in Genetic epidemiology (01.09.2011)
Published in Genetic epidemiology (01.09.2011)
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Identification of STAC3 variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome
Telegrafi, Aida, Webb, Bryn D., Robbins, Sarah M., Speck‐Martins, Carlos E., FitzPatrick, David, Fleming, Leah, Redett, Richard, Dufke, Andreas, Houge, Gunnar, van Harssel, Jeske J. T., Verloes, Alain, Robles, Angela, Manoli, Irini, Engle, Elizabeth C., Jabs, Ethylin W., Valle, David, Carey, John, Hoover‐Fong, Julie E., Sobreira, Nara L. M.
Published in American journal of medical genetics. Part A (01.10.2017)
Published in American journal of medical genetics. Part A (01.10.2017)
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Journal Article
Genetic and environmental risk factors for sagittal craniosynostosis
Zeiger, Joanna S, Beaty, Terri H, Hetmanski, Jacqueline B, Wang, Hong, Scott, Alan F, Kasch, Laura, Raymond, Gerald, Jabs, Ethylin W, VanderKolk, Craig
Published in The Journal of craniofacial surgery (01.09.2002)
Published in The Journal of craniofacial surgery (01.09.2002)
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Evidence of gene-environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate
Wu, Tao, Liang, Kung Yee, Hetmanski, Jacqueline B, Ruczinski, Ingo, Fallin, Margaret Daniele, Ingersoll, Roxann G, Wang, Hong, Huang, Shangzhi, Ye, Xiaoqian, Wu-Chou, Yah-Huei, Chen, Philip K, Jabs, Ethylin W, Shi, Bing, Redett, Richard, Scott, Alan F, Beaty, Terri H
Published in Human genetics (01.10.2010)
Published in Human genetics (01.10.2010)
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Journal Article
Evidence of gene-environment interaction for two genes on chromosome 4 and environmental tobacco smoke in controlling the risk of nonsyndromic cleft palate
Wu, Tao, Schwender, Holger, Ruczinski, Ingo, Murray, Jeffrey C, Marazita, Mary L, Munger, Ronald G, Hetmanski, Jacqueline B, Parker, Margaret M, Wang, Ping, Murray, Tanda, Taub, Margaret, Li, Shuai, Redett, Richard J, Fallin, M Daniele, Liang, Kung Yee, Wu-Chou, Yah Huei, Chong, Samuel S, Yeow, Vincent, Ye, Xiaoqian, Wang, Hong, Huang, Shangzhi, Jabs, Ethylin W, Shi, Bing, Wilcox, Allen J, Jee, Sun Ha, Scott, Alan F, Beaty, Terri H
Published in PloS one (06.02.2014)
Published in PloS one (06.02.2014)
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The effect of a Beare‐Stevenson syndrome Fgfr2 Y394C mutation on early craniofacial bone volume and relative bone mineral density in mice
Percival, Christopher J., Wang, Yingli, Zhou, Xueyan, Jabs, Ethylin W., Richtsmeier, Joan T.
Published in Journal of anatomy (01.11.2012)
Published in Journal of anatomy (01.11.2012)
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Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
DE BAERE, Elfride, DIXON, Michael J, COURTENS, Winnie, HJALGRIM, Helle, SHANGZHI HUANG, LIEBAERS, Inge, VAN REGEMORTER, Nicole, TOURAINE, Philippe, PRAPHANPHOJ, Verayuth, VERLOES, Alain, UDAR, Nitin, YELLORE, Vivek, SMALL, Kent W, CHALUKYA, Meenal, YELCHITS, Svetlana, DE PAEPE, Anne, KUTTENN, Frédérique, FELLOUS, Marc, VEITIA, Reiner, MESSIAEN, Ludwine, JABS, Ethylin W, LEROY, Bart P, DEVRIENDT, Koenraad, GILLEROT, Yves, MORTIER, Geert, MEIRE, Francoise, VAN MALDERGEM, Lionel
Published in Human molecular genetics (15.07.2001)
Published in Human molecular genetics (15.07.2001)
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Journal Article
The FGF and FGFR Gene Family and Risk of Cleft Lip with or Without Cleft Palate
Wang, Hong, Zhang, Tianxiao, Wu, Tao, Hetmanski, Jacqueline B., Ruczinski, Ingo, Schwender, Holger, Yee Liang, Kung, Murray, Tanda, Daniele Fallin, M., Redett, Richard J., Raymond, Gerald V., Jin, Sheng-Chih, Wu Chou, Yah-Huei, Kuo-Ting Chen, Philip, Yeow, Vincent, Chong, Samuel S., Cheah, Felicia S.H., Ha Jee, Sun, Jabs, Ethylin W., Scott, Alan F., Beaty, Terri H.
Published in The Cleft palate-craniofacial journal (01.01.2013)
Published in The Cleft palate-craniofacial journal (01.01.2013)
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Journal Article
Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations
JAE WOONG SULL, LIANG, Kung-Yee, YEOW, Vincent, BEYOUNG YUN PARK, SUN HA JEE, JABS, Ethylin W, REDETT, Richard, SCOTT, Alan F, BEATY, Terri H, HETMANSKI, Jacqueline B, DANIELE FALLIN, Margaret, INGERSOLL, Roxanne G, PARK, Jiwan, WU-CHOU, Yah-Huei, CHEN, Philip K, CHONG, Samuel S, CHEAH, Felicia
Published in European journal of human genetics : EJHG (01.06.2009)
Published in European journal of human genetics : EJHG (01.06.2009)
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Journal Article
Regional cortical white matter reductions in velocardiofacial syndrome: a volumetric MRI analysis
Kates, Wendy R, Burnette, Courtney P, Jabs, Ethylin W, Rutberg, Julie, Murphy, Anne M, Grados, Marco, Geraghty, Michael, Kaufmann, Walter E, Pearlson, Godfrey D
Published in Biological psychiatry (1969) (15.04.2001)
Published in Biological psychiatry (1969) (15.04.2001)
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Journal Article
Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2)
Kates, Wendy R, Burnette, Courtney P, Bessette, Brandy A, Folley, Bradley S, Strunge, Leslie, Jabs, Ethylin W, Pearlson, Godfrey D
Published in Journal of child neurology (01.05.2004)
Published in Journal of child neurology (01.05.2004)
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TCOF1 Gene Encodes a Putative Nucleolar Phosphoprotein that Exhibits Mutations in Treacher Collins Syndrome throughout its Coding Region
Wise, Carol A., Chiang, Lydia C., Paznekas, William A., Sharma, Mridula, Musy, Maurice M., Ashley, Jennifer A., Lovett, Michael, Jabs, Ethylin W.
Published in Proceedings of the National Academy of Sciences - PNAS (01.04.1997)
Published in Proceedings of the National Academy of Sciences - PNAS (01.04.1997)
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Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations
Sull, Jae Woong, Liang, Kung-Yee, Hetmanski, Jacqueline B., Fallin, M. Daniele, Ingersoll, Roxanne G., Park, Ji Wan, Wu-Chou, Yah-Huei, Chen, Philip K., Chong, Samuel S., Cheah, Felicia, Yeow, Vincent, Park, Beyoung Yun, Jee, Sun Ha, Jabs, Ethylin W., Redett, Richard, Scott, Alan F., Beaty, Terri H.
Published in American journal of medical genetics. Part A (15.09.2008)
Published in American journal of medical genetics. Part A (15.09.2008)
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