Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

Autor: Abarca-Barriga, Hugo, Al-Haddad, Christiane, Berman, Jeffrey L., Bothun, Erick D., Capasso, Jenina, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Dagi, Linda R., Lee Dahm, Thomas, David, Karen L., Davitt, Bradley V., De Berardinis, Teresa, Demer, Joseph L., Désir, Julie, D’Esposito, Fabiana, Drack, Arlene V., Eggenberger, Eric, Elder, James E., Elliott, Alexandra T., Epley, K. David, Feldman, Hagit Baris, Ferreira, Carlos R., Flaherty, Maree P., Fulton, Anne B., Gerth-Kahlert, Christina, Gottlob, Irene, Grill, Stephen, Halliday, Dorothy J., Hanisch, Frank, Hay, Eleanor, Heidary, Gena, Holder, Christopher, Horton, Jonathan C., Iannaccone, Alessandro, Isenberg, Sherwin J., Johnston, Suzanne C., Kahana, Alon, Katowitz, James A., Kazlas, Melanie, Kerr, Natalie C., Kimonis, Virginia, Ko, Melissa W., Koc, Feray, Larsen, Dorte Ancher, Lay-Son, Guillermo, Ledoux, Danielle M., Levin, Alex V., Levy, Richard L., Lyons, Christopher J., Mackey, David A., Magli, Adriano, Mantagos, Iason S., Marti, Candice, Maystadt, Isabelle, McKenzie, Fiona, Menezes, Manoj P., Mikail, Claudia N., Miller, David T., Miller, Kathryn Bisceglia, Mills, Monte D., Miyana, Kaori, Moller, H.U., Mullineaux, Lisa, Nishimura, Julie K., Noble, A. Gwendolyn, Pandey, Pramod Kumar, Pavone, Piero, Penzien, Johann, Petersen, Robert, Phalen, James A., Poduri, Annapurna, Polo, Claudia R., Prasov, Lev, Ramos, Feliciano J., Ramos-Caceres, Maria, Robb, Richard M., Rossillion, Béatrice, Sahin, Mustafa, Singer, Harvey S., Smith, Lois E.H., Sorkin, Jeffrey A., Soul, Janet S., Staffieri, Sandra E., Stalker, Heather J., Stasheff, Steven F., Strassberg, Sonya, Strominger, Mitchell B., Taranath, Deepa Ajay, Thomas, Ioan Talfryn, Traboulsi, Elias I., Ugrin, Maria Cristina, VanderVeen, Deborah K., Vincent, Andrea L., Vogel G, Marlene C., Wabbels, Bettina, Wong, Agnes M.F., Woods, C. Geoffrey, Wu, Carolyn, Yang, Edward, Yeung, Alison, Young, Terri L., Zenteno, Juan C., Zubcov-Iwantscheff, Alexandra A., Zwaan, Johan, Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, MacKinnon, Sarah, Whitman, Mary C., Matos Ruiz, Paola M., Pratt, Brandon M., England, Eleina M., Pais, Lynn, Lemire, Gabrielle, Groopman, Emily, Glaze, Carmen, Russell, Kathryn A., Singer-Berk, Moriel, Di Gioia, Silvio Alessandro, Lee, Arthur S., Andrews, Caroline, Shaaban, Sherin, Wirth, Megan M., Bekele, Sarah, Toffoloni, Melissa, Bradford, Victoria R., Foster, Emma E., Berube, Lindsay, Rivera-Quiles, Cristina, Mensching, Fiona M., Sanchis-Juan, Alba, Fu, Jack M., Wong, Isaac, Zhao, Xuefang, Wilson, Michael W., Weisburd, Ben, Lek, Monkol, Brand, Harrison, Talkowski, Michael E., MacArthur, Daniel G., O’Donnell-Luria, Anne, Robson, Caroline D., Hunter, David G., Engle, Elizabeth C.

Publikováno v: In Genetics in Medicine July 2024

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Linkage Analysis Narrows the Critical Region for Oculodentodigital Dysplasia to Chromosome 6q22–q23

Autor: Boyadjiev, Simeon A ^{**These authors contributed equally to this study.}, Jabs, Ethylin Wang ^{††To whom correspondence may be addressed at Institute of Genetic Medicine, CMSC 1004, 600 North Wolfe St., Baltimore, MD 21287-3914. Telephone: (410) 955-4160. Fax: (410) 955-0484. E-mail:ewjabs@jhmi.edu.}, LaBuda, Michele, Jamal, Joseph E, Torbergsen, Torberg, Ptáček, Louis J, II, Rogers, R.Curtis, Nyberg-Hansen, Rolf, Opjordsmoen, Stein, Zeller, Cynthia B, Stine, O.Colin, Stalker, Heather J, Zori, Roberto T, Shapiro, Robert E ^{*, ‡‡To whom correspondence may be addressed at Department of Neurology, Given B-211, College of Medicine, University of Vermont, Burlington, VT 05405-0068. Telephone: (802) 656-1480. Fax: (802) 656-5844. E-mail:Robert.Shapiro@uvm.edu.}

Publikováno v: In Genomics 15 May 1999 58(1):34-40

A molecular diagnosis of hyperparathyroidism—Jaw tumor syndrome in an adolescent with recurrent kidney stones

Autor: Howell, Viive M., Zori, Roberto T., Stalker, Heather J., Williams, Charles, Jesse, Nathan, Nelson, Anne E., Robinson, Bruce G., Marsh, Deborah J.

Publikováno v: In The Journal of Pediatrics 2004 145(4):567-567

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