Diagnosis and Management of Beckwith-Wiedemann Syndrome von Wang, Kathleen H, Kupa, Jonida, Duffy, Kelly A, Kalish, Jennifer M

Volltext

Allele-specific RNA imaging shows that allelic imbalances can arise in tissues through transcriptional bursting von Symmons, Orsolya, Chang, Marcello, Mellis, Ian A, Kalish, Jennifer M, Park, Jihwan, Suszták, Katalin, Bartolomei, Marisa S, Raj, Arjun

Volltext

Extrauterine support of pre-term lambs achieves similar transcriptomic profiling to late pre-term lamb brains von Cohen, Jennifer L., De Bie, Felix, Viaene, Angela N., O’Grady, Nicholas, Rentas, Stefan, Coons, Barbara, Moon, James K., Monson, Eric E., Myers, Rachel A., Kalish, Jennifer M., Flake, Alan W.

Volltext

The role of CTCF in the organization of the centromeric 11p15 imprinted domain interactome von Naveh, Natali S Sobel, Deegan, Daniel F, Huhn, Jacklyn, Traxler, Emily, Lan, Yemin, Weksberg, Rosanna, Ganguly, Arupa, Engel, Nora, Kalish, Jennifer M

Volltext

Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith‐Wiedemann syndrome von Sobel Naveh, Natali S., Traxler, Emily M., Duffy, Kelly A., Kalish, Jennifer M.

Volltext

Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome von Li, Yahan, Hagen, Darren Erich, Ji, Tieming, Bakhtiarizadeh, Mohammad Reza, Frederic, Whitney M., Traxler, Emily M., Kalish, Jennifer M., Rivera, Rocío Melissa

Volltext

Morphometric measurements of intraoral anatomy in children with Beckwith-Wiedemann syndrome: a novel approach von Romeo, Dominic J, George, Andrew M, Sussman, Jonathan H, Banala, Manisha, Wiemken, Andrew, Wu, Meagan, Ng, Jinggang J, Taylor, Jesse A, Schwab, Richard J, Cielo, Christopher M, Kalish, Jennifer M

Volltext

The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum von Mussa, Alessandro, Duffy, Kelly A., Carli, Diana, Griff, Jessica R., Fagiano, Riccardo, Kupa, Jonida, Brodeur, Garrett M., Ferrero, Giovanni Battista, Kalish, Jennifer M.

Volltext

Visualizing allele-specific expression in single cells reveals epigenetic mosaicism in an H19 loss-of-imprinting mutant von Ginart, Paul, Kalish, Jennifer M, Jiang, Connie L, Yu, Alice C, Bartolomei, Marisa S, Raj, Arjun

Volltext

Characterization and Childhood Tumor Risk Assessment of Genetic and Epigenetic Syndromes Associated With Lateralized Overgrowth von Griff, Jessica R, Duffy, Kelly A, Kalish, Jennifer M

Volltext

Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management von Duffy, Kelly A, Trout, Kelly L, Gunckle, Jennifer M, Krantz, Shari McCullen, Morris, John, Kalish, Jennifer M

Volltext

Androgenetic chimerism as an etiology for Beckwith–Wiedemann syndrome: diagnosis and management von Sheppard, Sarah E., Lalonde, Emilie, Adzick, N. Scott, Beck, Anita E., Bhatti, Tricia, De Leon, Diva D., Duffy, Kelly A., Ganguly, Arupa, Hathaway, Evan, Ji, Jianling, Linn, Rebecca, Lord, Katherine, Randolph, Linda M., Sajorda, Brian, States, Lisa, Conlin, Laura K., Kalish, Jennifer M.

Volltext

Derivation and investigation of the first human cell-based model of Beckwith-Wiedemann syndrome von Chang, Suhee, Hur, Stella K., Naveh, Natali S. Sobel, Thorvaldsen, Joanne L., French, Deborah L., Gagne, Alyssa L, Jobaliya, Chintan D., Anguera, Montserrat C., Bartolomei, Marisa S., Kalish, Jennifer M

Volltext

Nomenclature and definition in asymmetric regional body overgrowth von Kalish, Jennifer M., Biesecker, Leslie G., Brioude, Frederic, Deardorff, Matthew A., Di Cesare‐Merlone, Alessandra, Druley, Todd, Ferrero, Giovanni B., Lapunzina, Pablo, Larizza, Lidia, Maas, Saskia, Macchiaiolo, Marina, Maher, Eamonn R., Maitz, Silvia, Martinez‐Agosto, Julian A., Mussa, Alessandro, Robinson, Peter, Russo, Silvia, Selicorni, Angelo, Hennekam, Raoul C.

Volltext

Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2 von Duffy, Kelly A, Hathaway, Evan R, Klein, Steven D, Ganguly, Arupa, Kalish, Jennifer M

Volltext

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis von Mackay, Deborah J G, Gazdagh, Gabriella, Monk, David, Brioude, Frederic, Giabicani, Eloise, Krzyzewska, Izabela M, Kalish, Jennifer M, Maas, Saskia M, Kagami, Masayo, Beygo, Jasmin, Kahre, Tiina, Tenorio-Castano, Jair, Ambrozaitytė, Laima, Burnytė, Birutė, Cerrato, Flavia, Davies, Justin H, Ferrero, Giovanni Battista, Fjodorova, Olga, Manero-Azua, Africa, Pereda, Arrate, Russo, Silvia, Tannorella, Pierpaola, Temple, Karen I, Õunap, Katrin, Riccio, Andrea, de Nanclares, Guiomar Perez, Maher, Eamonn R, Lapunzina, Pablo, Netchine, Irène, Eggermann, Thomas, Bliek, Jet, Tümer, Zeynep

Volltext

Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients von Levin, Mark D., Saitta, Sulagna C., Gripp, Karen W., Wenger, Tara L., Ganesh, Jaya, Kalish, Jennifer M., Epstein, Michael R., Smith, Rosemarie, Czosek, Richard J., Ware, Stephanie M., Goldenberg, Paula, Myers, Angela, Chatfield, Kathryn C., Gillespie, Matthew J., Zackai, Elaine H., Lin, Angela E.

Volltext

Introduction to the Beckwith–Wiedemann Syndrome and Cancer Special Issue von Mussa, Alessandro, Kalish, Jennifer M

Volltext

Epigenetics and imprinting in human disease von Kalish, Jennifer M, Jiang, Connie, Bartolomei, Marisa S

Volltext

Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement von Brioude, Frédéric, Kalish, Jennifer M., Mussa, Alessandro, Foster, Alison C., Bliek, Jet, Ferrero, Giovanni Battista, Boonen, Susanne E., Cole, Trevor, Baker, Robert, Bertoletti, Monica, Cocchi, Guido, Coze, Carole, De Pellegrin, Maurizio, Hussain, Khalid, Ibrahim, Abdulla, Kilby, Mark D., Krajewska-Walasek, Malgorzata, Kratz, Christian P., Ladusans, Edmund J., Lapunzina, Pablo, Le Bouc, Yves, Maas, Saskia M., Macdonald, Fiona, Õunap, Katrin, Peruzzi, Licia, Rossignol, Sylvie, Russo, Silvia, Shipster, Caroleen, Skórka, Agata, Tatton-Brown, Katrina, Tenorio, Jair, Tortora, Chiara, Grønskov, Karen, Netchine, Irène, Hennekam, Raoul C., Prawitt, Dirk, Tümer, Zeynep, Eggermann, Thomas, Mackay, Deborah J. G., Riccio, Andrea, Maher, Eamonn R.

Volltext