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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Advancing Age Has Differential Effects on DNA Damage, Chromatin Integrity, Gene Mutations, and Aneuploidies in Sperm
Wyrobek, A. J., Eskenazi, B., Young, S., Arnheim, N., Tiemann-Boege, I., Jabs, E. W., Glaser, R. L., Pearson, F. S., Evenson, D.
Published in Proceedings of the National Academy of Sciences - PNAS (20.06.2006)
Published in Proceedings of the National Academy of Sciences - PNAS (20.06.2006)
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Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene
Van Maldergem, L, Siitonen, H A, Jalkh, N, Chouery, E, De Roy, M, Delague, V, Muenke, M, Jabs, E W, Cai, J, Wang, L L, Plon, S E, Fourneau, C, Kestilä, M, Gillerot, Y, Mégarbané, A, Verloes, A
Published in Journal of medical genetics (01.02.2006)
Published in Journal of medical genetics (01.02.2006)
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Label-free protein quantification of sodium butyrate treated CHO cells by ESI-UHR-TOF-MS
Müller, B., Heinrich, C., Jabs, W., Kaspar-Schönefeld, S., Schmidt, A., Rodrigues de Carvalho, N., Albaum, S.P., Baessmann, C., Noll, T., Hoffrogge, R
Published in Journal of biotechnology (10.09.2017)
Published in Journal of biotechnology (10.09.2017)
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Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer
Frebourg, T, Oliveira, C, Hochain, P, Karam, R, Manouvrier, S, Graziadio, C, Vekemans, M, Hartmann, A, Baert-Desurmont, S, Alexandre, C, Lejeune Dumoulin, S, Marroni, C, Martin, C, Castedo, S, Lovett, M, Winston, J, Machado, J C, Attié, T, Jabs, E W, Cai, J, Pellerin, Ph, Triboulet, J P, Scotte, M, Le Pessot, F, Hedouin, A, Carneiro, F, Blayau, M, Seruca, R
Published in Journal of medical genetics (01.02.2006)
Published in Journal of medical genetics (01.02.2006)
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Association between clinical disease activity and Epstein-Barr virus reactivation in MS
Wandinger, K, Jabs, W, Siekhaus, A, Bubel, S, Trillenberg, P, Wagner, H, Wessel, K, Kirchner, H, Hennig, H
Published in Neurology (25.07.2000)
Published in Neurology (25.07.2000)
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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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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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Normalized Quantification by Real-Time PCR of Epstein-Barr Virus Load in Patients at Risk for Posttransplant Lymphoproliferative Disorders
JABS, Wolfram J, HENNIG, Holger, KITTEL, Michael, PETHIG, Klaus, SMETS, Francoise, BUCSKY, Peter, KIRCHNER, Holger, WAGNER, Hans J
Published in Journal of Clinical Microbiology (01.02.2001)
Published in Journal of Clinical Microbiology (01.02.2001)
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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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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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Polarized Expression of Tamm-Horsfall Protein by Renal Tubular Epithelial Cells Activates Human Granulocytes
KREFT, B, JABS, W. J, LASKAY, T, KLINGER, M, SOLBACH, W, KUMAR, S, VAN ZANDBERGEN, G
Published in Infection and Immunity (01.05.2002)
Published in Infection and Immunity (01.05.2002)
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The influence of naturally occurring heterophilic anti-immunoglobulin antibodies on direct measurement of serum proteins using sandwich ELISAs
Hennig, Christian, Rink, Lothar, Fagin, Ursula, Jabs, Wolfram J, Kirchner, Holger
Published in Journal of immunological methods (21.02.2000)
Published in Journal of immunological methods (21.02.2000)
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Journal Article
High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts
Park, J W, Cai, J, McIntosh, I, Jabs, E W, Fallin, M D, Ingersoll, R, Hetmanski, J B, Vekemans, M, Attie-Bitach, T, Lovett, M, Scott, A F, Beaty, T H
Published in Journal of medical genetics (01.07.2006)
Published in Journal of medical genetics (01.07.2006)
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The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis
Hewitt, Chelsee, McCormick, Derek, Linden, Gerry, Turk, Dusan, Stern, Igor, Wallace, Ian, Southern, Louise, Zhang, Liqun, Howard, Rebecca, Bullon, Pedro, Wong, Melanie, Widmer, Richard, Gaffar, Khaled Abdul, Awawdeh, Lama, Briggs, Jim, Yaghmai, Reza, Jabs, Ethlin W., Hoeger, Peter, Bleck, Oliver, Rüdiger, Stefan G., Petersilka, Gregor, Battino, Maurizio, Brett, Peter, Hattab, Faiez, Al-Hamed, Mohamed, Sloan, Philip, Toomes, Carmel, Dixon, Mike, James, Jacqueline, Read, Andrew P., Thakker, Nalin
Published in Human mutation (01.03.2004)
Published in Human mutation (01.03.2004)
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A Rare Clinical Course of Seronegative Pulmonary-Renal Syndrome
Ince, H., Ketterer, U., Kuhlmann, M. K., Berhold, C., Jabs, W. J., Fröhlich-Gildhoff, M., Kische, S.
Published in Case Reports in Critical Care (01.01.2016)
Published in Case Reports in Critical Care (01.01.2016)
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Journal Article
A Novel Skeletal Dysplasia with Developmental Delay and Acanthosis Nigricans Is Caused by a Lys650Met Mutation in the Fibroblast Growth Factor Receptor 3 Gene
Tavormina, Patricia L., Bellus, Gary A., Webster, Melanie K., Bamshad, Michael J., Fraley, Alexander E., McIntosh, Iain, Szabo, Jinny, Jiang, Wen, Jabs, Ethylin W., Wilcox, William R., Wasmuth, John J., Donoghue, Daniel J., Thompson, Leslie M., Francomano, Clair A.
Published in American journal of human genetics (01.03.1999)
Published in American journal of human genetics (01.03.1999)
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