Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly
Lines, Matthew A., Huang, Lijia, Schwartzentruber, Jeremy, Douglas, Stuart L., Lynch, Danielle C., Beaulieu, Chandree, Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Gener, Blanca, Gillessen-Kaesbach, Gabriele, Nava, Caroline, Baujat, Geneviève, Horn, Denise, Kini, Usha, Caliebe, Almuth, Alanay, Yasemin, Utine, Gulen Eda, Lev, Dorit, Kohlhase, Jürgen, Grix, Arthur W., Lohmann, Dietmar R., Hehr, Ute, Böhm, Detlef, Majewski, Jacek, Bulman, Dennis E., Wieczorek, Dagmar, Boycott, Kym M.
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
Get full text
Journal Article
Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting
Saadi, Irfan, Alkuraya, Fowzan S., Gisselbrecht, Stephen S., Goessling, Wolfram, Cavallesco, Resy, Turbe-Doan, Annick, Petrin, Aline L., Harris, James, Siddiqui, Ursela, Grix, Arthur W., Hove, Hanne D., Leboulch, Philippe, Glover, Thomas W., Morton, Cynthia C., Richieri-Costa, Antonio, Murray, Jeffrey C., Erickson, Robert P., Maas, Richard L.
Published in American journal of human genetics (15.07.2011)
Published in American journal of human genetics (15.07.2011)
Get full text
Journal Article
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
Walsh, Christopher A, Shen, Jun, Gilmore, Edward C, Marshall, Christine A, Haddadin, Mary, Reynolds, John J, Eyaid, Wafaa, Bodell, Adria, Barry, Brenda, Gleason, Danielle, Allen, Kathryn, Ganesh, Vijay S, Chang, Bernard S, Grix, Arthur, Hill, R Sean, Topcu, Meral, Caldecott, Keith W, Barkovich, A James
Published in Nature genetics (01.03.2010)
Published in Nature genetics (01.03.2010)
Get full text
Journal Article
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks
Longoni, Mauro, Lage, Kasper, Russell, Meaghan K., Loscertales, Maria, Abdul-Rahman, Omar A., Baynam, Gareth, Bleyl, Steven B., Brady, Paul D., Breckpot, Jeroen, Chen, Chih P., Devriendt, Koenraad, Gillessen-Kaesbach, Gabriele, Grix, Arthur W., Rope, Alan F., Shimokawa, Osamu, Strauss, Bernarda, Wieczorek, Dagmar, Zackai, Elaine H., Coletti, Caroline M., Maalouf, Faouzi I., Noonan, Kristin M., Park, Ji H., Tracy, Adam A., Lee, Charles, Donahoe, Patricia K., Pober, Barbara R.
Published in American journal of medical genetics. Part A (01.12.2012)
Published in American journal of medical genetics. Part A (01.12.2012)
Get full text
Journal Article
Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome
Beysen, Diane, De Jaegere, Sarah, Amor, David, Bouchard, Philippe, Christin-Maitre, Sophie, Fellous, Marc, Touraine, Philippe, Grix, Arthur W, Hennekam, Raoul, Meire, Françoise, Oyen, Nina, Wilson, Louise C, Barel, Dalit, Clayton-Smith, Jill, de Ravel, Thomy, Decock, Christian, Delbeke, Patricia, Ensenauer, Regina, Ebinger, Friedrich, Gillessen-Kaesbach, Gabriele, Hendriks, Yvonne, Kimonis, Virginia, Laframboise, Rachel, Laissue, Paul, Leppig, Kathleen, Leroy, Bart P, Miller, David T, Mowat, David, Neumann, Luitgard, Plomp, Astrid, Van Regemorter, Nicole, Wieczorek, Dagmar, Veitia, Reiner A, De Paepe, Anne, De Baere, Elfride
Published in Human mutation (01.11.2008)
Published in Human mutation (01.11.2008)
Get full text
Journal Article
A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28
Villard, Laurent, Nguyen, Karine, Cardoso, Carlos, Martin, Christa Lese, Weiss, Ann M., Sifry-Platt, Mara, Grix, Arthur W., Graham, John M., Winter, Robin M., Leventer, Richard J., Dobyns, William B.
Published in American journal of human genetics (01.04.2002)
Published in American journal of human genetics (01.04.2002)
Get full text
Journal Article
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
KRAKOW, Deborah, ROBERTSON, Stephen P, AFTIMOS, Salim, CHONG AE KIM, FIRTH, Helen, STEINER, Carlos E, CORMIER-DAIRE, Valerie, SUPERTI-FURGA, Andrea, BONAFE, Luisa, GRAHAM, John M, GRIX, Arthur, BACINO, Carlos A, KING, Lily M, ALLANSON, Judith, BIALER, Martin G, LACHMAN, Ralph S, RIMOIN, David L, COHN, Daniel H, MORGAN, Timothy, SEBALD, Eiman T, BERTOLOTTO, Cristina, WACHSMANN-HOGIU, Sebastian, ACUNA, Dora, SHAPIRO, Sandor S, TAKAFUTA, Toshiro
Published in Nature genetics (01.04.2004)
Published in Nature genetics (01.04.2004)
Get full text
Journal Article
A tribute to Bryan D. Hall: Festschrift 2003
Carey, John C., Curry, Cynthia J.R., Grix, Arthur W., Golabi, Mahin, Graham Jr, John M., Buehler, Bruce A.
Published in American journal of medical genetics. Part A (15.11.2003)
Published in American journal of medical genetics. Part A (15.11.2003)
Get full text
Journal Article
Mutations in PYCR1 cause cutis laxa with progeroid features
Alkazaleh, Fawaz, Haußer, Ingrid, Nanda, Arti, Sillence, David, Reversade, Bruno, Ferrari, Paola, Rajab, Anna, Dallapiccola, Bruno, Kornak, Uwe, Mundlos, Stefan, Nürnberg, Gudrun, Budde, Birgit, Gray, Mary, Nürnberg, Peter, Fischer, Björn, Seemann, Petra, Van Maldergem, Lionel, Escande-Beillard, Nathalie, Savarirayan, Ravi, Li, Yun, Hamamy, Hanan, Schuelke, Markus, Chng, Serene C, Lee, Hane, Tham, Puay-Yoke, Markie, David, Kayserili, Hülya, Merriman, Barry, Guerra, Deanna, Shboul, Mohammad, Nelson, John, Shahwan, Monzer, Masri, Amira, Nelson, Stanley F, Dimopoulou, Aikaterini, Wollnik, Bernd, Al-Gazali, Lihadh, O'Connor, Brian D, Janecke, Andreas R, Zambruno, Giovanna, Robertson, Stephen, Sommer, Annemarie, Kunkel, Désirée, Kegler, Mareen Schmidt-von, Steichen, Elisabeth, Brancati, Francesco, Grix, Arthur
Published in Nature genetics (01.09.2009)
Published in Nature genetics (01.09.2009)
Get full text
Journal Article
Web Resource
Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features
Reversade, Bruno, Escande-Beillard, Nathalie, Dimopoulou, Aikaterini, Fischer, Björn, Chng, Serene C., Li, Yun, Shboul, Mohammad, Tham, Puay-Yoke, Kayserili, Hülya, Al-Gazali, Lihadh, Shahwan, Monzer, Brancati, Francesco, Lee, Hane, O’Connor, Brian D., Kegler, Mareen Schmidt-von, Merriman, Barry, Nelson, Stanley F., Masri, Amira, Alkazaleh, Fawaz, Guerra, Deanna, Ferrari, Paola, Nanda, Arti, Rajab, Anna, Markie, David, Gray, Mary, Nelson, John, Grix, Arthur, Sommer, Annemarie, Savarirayan, Ravi, Janecke, Andreas R., Steichen, Elisabeth, Sillence, David, Haußer, Ingrid, Budde, Birgit, Nürnberg, Gudrun, Nürnberg, Peter, Seemann, Petra, Kunkel, Désirée, Zambruno, Giovanna, Dallapiccola, Bruno, Schuelke, Markus, Robertson, Stephen, Hamamy, Hanan, Wollnik, Bernd, Van Maldergem, Lionel, Mundlos, Stefan, Kornak, Uwe
Published in Nature genetics (01.02.2022)
Published in Nature genetics (01.02.2022)
Get full text
Journal Article
Web Resource
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
Graham, John M, Krakow, Deborah, Bertolotto, Cristina, Morgan, Timothy, King, Lily M, Bonafe, Luisa, Kim, Chong Ae, Bacino, Carlos A, Steiner, Carlos E, Takafuta, Toshiro, Firth, Helen, Bialer, Martin G, Rimoin, David L, Cohn, Daniel H, Wachsmann-Hogiu, Sebastian, Acuna, Dora, Cormier-Daire, Valerie, Aftimos, Salim, Superti-Furga, Andrea, Lachman, Ralph S, Robertson, Stephen P, Allanson, Judith, Shapiro, Sandor S, Grix, Arthur, Sebald, Eiman T
Published in Nature genetics (01.04.2004)
Published in Nature genetics (01.04.2004)
Get full text
Journal Article
Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity
Robertson, Stephen P., Jenkins, Zandra A., Morgan, Timothy, Adès, Lesley, Aftimos, Salim, Boute, Odile, Fiskerstrand, Torunn, Garcia-Miñaur, Sixto, Grix, Arthur, Green, Andrew, Kaloustian, Vazken Der, Lewkonia, Ray, McInnes, Brenda, van Haelst, Mieke M., Macini, Grazia, Illés, Tamás, Mortier, Geert, Newbury-Ecob, Ruth, Nicholson, Linda, Scott, Charles I., Ochman, Karolina, Brożek, Izabela, Shears, Deborah J., Superti-Furga, Andrea, Suri, Mohnish, Whiteford, Margo, Wilkie, Andrew O.M., Krakow, Deborah
Published in American journal of medical genetics. Part A (15.08.2006)
Published in American journal of medical genetics. Part A (15.08.2006)
Get full text
Journal Article
Deficiency of the Cytoskeletal Protein SPECC1 L Leads to Oblique Facial Clefting
SAADI, Irfan, ALKURAYA, Fowzan S, HOVE, Hanne D, LEBOULCH, Philippe, GLOVER, Thomas W, MORTON, Cynthia C, RICHIERI-COSTA, Antonio, MURRAY, Jeffrey C, ERICKSON, Robert P, MAAS, Richard L, GISSELBRECHT, Stephen S, GOESSLING, Wolfram, CAVALLESCO, Resy, TURBE-DOAN, Annick, PETRIN, Aline L, HARRIS, James, SIDDIQUI, Ursela, GRIX, Arthur W
Published in American journal of human genetics (2011)
Get full text
Published in American journal of human genetics (2011)
Journal Article
Absence of malignant hyperthermia contractures in Becker-Duchenne dystrophy at age 2
Gronert, G A, Fowler, W, Cardinet, 3rd, G H, Grix, Jr, A, Ellis, W G, Schwartz, M Z
Published in Muscle & nerve (01.01.1992)
Published in Muscle & nerve (01.01.1992)
Get more information
Journal Article
Nature Genetics
Reversade, Bruno, Escande-Beillard, Nathalie, Dimopoulou, Aikaterini, Fischer, Bjorn, Chng, Serene C, Li, Yun, Shboul, Mohammad, Tham, Puay-Yoke, Kayserili, Hulya, Al-Gazali, Lihadh, Shahwan, Monzer, Brancati, Francesco, Lee, Hane, O'Connor, Brian D, Schmidt-von Kegler, Mareen, Merriman, Barry, Nelson, Stanley F, Masri, Amira, Alkazaleh, Fawaz, Guerra, Deanna, Ferrari, Paola, Nanda, Arti, Rajab, Anna, Markie, David, Gray, Mary, Nelson, John, Grix, Arthur, Sommer, Annemarie, Savarirayan, Ravi, Janecke, Andreas R, Steichen, Elisabeth, Sillence, David, Hausser, Ingrid, Budde, Birgit, Nurnberg, Gudrun, Nurnberg, Peter, Seemann, Petra, Kunkel, Desiree, Zambruno, Giovanna, Dallapiccola, Bruno, Schuelke, Markus, Robertson, Stephen, Hamamy, Hanan, Wollnik, Bernd, Van Maldergem, Lionel, Mundlos, Stefan, Kornak, Uwe
Published in Nature genetics (2009)
Get full text
Published in Nature genetics (2009)
Journal Article
Diagnostic criteria for Walker-Warburg syndrome
Dobyns, W B, Pagon, R A, Armstrong, D, Curry, C J, Greenberg, F, Grix, A, Holmes, L B, Laxova, R, Michels, V V, Robinow, M
Published in American journal of medical genetics (01.02.1989)
Published in American journal of medical genetics (01.02.1989)
Get more information
Journal Article
OA1 Mutations and Deletions in X-Linked Ocular Albinism
Schnur, Rhonda E., Gao, Mei, Wick, Penelope A., Keller, Margaret, Benke, Paul J., Edwards, Matthew J., Grix, Arthur W., Hockey, Athel, Jung, Jack H., Kidd, Kenneth K., Kistenmacher, Mildred, Levin, Alex V., Lewis, Richard A., Musarella, Maria A., Nowakowski, Rod W., Orlow, Seth J., Pagon, Roberta S., Pillers, De-Ann M., Punnett, Hope H., Quinn, Graham E., Tezcan, Kamer, Wagstaff, Joseph, Weleber, Richard G.
Published in American journal of human genetics (01.04.1998)
Published in American journal of human genetics (01.04.1998)
Get full text
Journal Article
Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (Am J Med Genet 140A: 1726-1736)
Robertson, Stephen P., Jenkins, Zandra A., Morgan, Timothy, Adès, Lesley, Aftimos, Salim, Boute, Odile, Fiskerstrand, Torunn, Garcia-Miñaur, Sixto, Grix, Arthur, Green, Andrew, Kaloustian, Vazken Der, Lewkonia, Ray, McInnes, Brenda, van Haelst, Mieke M., Macini, Grazia, Illés, Tamás, Mortier, Geert, Newbury-Ecob, Ruth, Nicholson, Linda, Scott, Charles I., Ochman, Karolina, Brożek, Izabela, Shears, Deborah J., Superti-Furga, Andrea, Suri, Mohnish, Whiteford, Margo, Wilkie, Andrew O.M., Krakow, Deborah
Published in American journal of medical genetics. Part A (15.12.2006)
Published in American journal of medical genetics. Part A (15.12.2006)
Get full text
Journal Article
Focal dermal hypoplasia: Four cases with widely varying presentations
Kilmer, Suzanne Linsmeier, Grix, Arthur W., Isseroff, R. Rivkah
Published in Journal of the American Academy of Dermatology (01.05.1993)
Published in Journal of the American Academy of Dermatology (01.05.1993)
Get full text
Journal Article
Phenotypic variability in X-linked ocular albinism : relationship to linkage genotypes
SCHNUR, R. E, WICK, P. A, BAILEY, C, REBBECK, T, WELEBER, R. G, WAGSTAFF, J, GRIX, A. W, PAGON, R. A, HOCKEY, A, EDWARDS, M. J
Published in American journal of human genetics (01.09.1994)
Get full text
Published in American journal of human genetics (01.09.1994)
Journal Article