Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

Por Krab, Lianne C., Marcos-Alcalde, Iñigo, Assaf, Melissa, Balasubramanian, Meena, Andersen, Janne Bayer, Bisgaard, Anne-Marie, Fitzpatrick, David R., Gudmundsson, Sanna, Huisman, Sylvia A., Kalayci, Tugba, Maas, Saskia M., Martinez, Francisco, McKee, Shane, Menke, Leonie A., Mulder, Paul A., Murch, Oliver D., Parker, Michael, Pie, Juan, Ramos, Feliciano J., Rieubland, Claudine, Rosenfeld Mokry, Jill A., Scarano, Emanuela, Shinawi, Marwan, Gómez-Puertas, Paulino, Tümer, Zeynep, Hennekam, Raoul C.
Publicado no Hum Genet (2020)

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Por Kline, Antonie D., Moss, Joanna F., Selicorni, Angelo, Bisgaard, Anne-Marie, Deardorff, Matthew A., Gillett, Peter M., Ishman, Stacey L., Kerr, Lynne M., Levin, Alex V., Mulder, Paul A., Ramos, Feliciano J., Wierzba, Jolanta, Ajmone, Paola Francesca, Axtell, David, Blagowidow, Natalie, Cereda, Anna, Costantino, Antonella, Cormier-Daire, Valerie, FitzPatrick, David, Grados, Marco, Groves, Laura, Guthrie, Whitney, Huisman, Sylvia, Kaiser, Frank J., Koekkoek, Gerritjan, Levis, Mary, Mariani, Milena, McCleery, Joseph P., Menke, Leonie A., Metrena, Amy, O’Connor, Julia, Oliver, Chris, Pie, Juan, Piening, Sigrid, Potter, Carol J., Quaglio, Ana L., Redeker, Egbert, Richman, David, Rigamonti, Claudia, Shi, Angell, Tümer, Zeynep, Van Balkom, Ingrid D. C., Hennekam, Raoul C.
Publicado no Nat Rev Genet (2018)

Further delineation of Malan syndrome

Por Priolo, Manuela, Schanze, Denny, Tatton‐Brown, Katrin, Mulder, Paul A., Tenorio, Jair, Kooblall, Kreepa, Acero, Inés Hernández, Alkuraya, Fowzan S., Arias, Pedro, Bernardini, Laura, Bijlsma, Emilia K., Cole, Trevor, Coubes, Christine, Dapia, Irene, Davies, Sally, Di Donato, Nataliya, Elcioglu, Nursel H., Fahrner, Jill A., Foster, Alison, González, Noelia García, Huber, Ilka, Iascone, Maria, Kaiser, Ann‐Sophie, Kamath, Arveen, Liebelt, Jan, Lynch, Sally Ann, Maas, Saskia M., Mammì, Corrado, Mathijssen, Inge B., McKee, Shane, Menke, Leonie A., Mirzaa, Ghayda M., Montgomery, Tara, Neubauer, Dorothee, Neumann, Thomas E., Pintomalli, Letizia, Pisanti, Maria Antonietta, Plomp, Astrid S., Price, Sue, Salter, Claire, Santos‐Simarro, Fernando, Sarda, Pierre, Segovia, Mabel, Shaw‐Smith, Charles, Smithson, Sarah, Suri, Mohnish, Valdez, Rita Maria, Van Haeringen, Arie, Van Hagen, Johanna M., Zollino, Marcela, Lapunzina, Pablo, Thakker, Rajesh V., Zenker, Martin, Hennekam, Raoul C.
Publicado no Hum Mutat (2018)