Mutation of EMG1 causing Bowen–Conradi syndrome results in reduced cell proliferation rates concomitant with G2/M arrest and 18S rRNA processing delay

por Armistead, Joy, Hemming, Richard, Patel, Nehal, Triggs-Raine, Barbara
Publicado 2014

EMG1 is essential for mouse pre-implantation embryo development

por Wu, Xiaoli, Sandhu, Sumit, Patel, Nehal, Triggs-Raine, Barbara, Ding, Hao
Publicado 2010

Hyaluronidase 2 Deficiency Causes Increased Mesenchymal Cells, Congenital Heart Defects, and Heart Failure

por Chowdhury, Biswajit, Xiang, Bo, Liu, Michelle, Hemming, Richard, Dolinsky, Vernon W., Triggs-Raine, Barbara
Publicado 2017

Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population

por Triggs‐Raine, Barbara, Dyck, Tamara, Boycott, Kym M., Innes, A. Micheil, Ober, Carole, Parboosingh, Jillian S., Botkin, Alexis, Greenberg, Cheryl R., Spriggs, Elizabeth L.
Publicado 2016

Extracellular Superoxide Dismutase Regulates Early Vascular Hyaluronan Remodeling in Hypoxic Pulmonary Hypertension

por Tseng, Victor, Ni, Kevin, Allawzi, Ayed, Prohaska, Clare, Hernandez-Lagunas, Laura, Elajaili, Hanan, Cali, Valbona, Midura, Ronald, Hascall, Vincent, Triggs-Raine, Barbara, Petrache, Irina, Hart, C. Michael, Nozik-Grayck, Eva
Publicado 2020

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice

por Muggenthaler, Martina M. A., Chowdhury, Biswajit, Hasan, S. Naimul, Cross, Harold E., Mark, Brian, Harlalka, Gaurav V., Patton, Michael A., Ishida, Miho, Behr, Elijah R., Sharma, Sanjay, Zahka, Kenneth, Faqeih, Eissa, Blakley, Brian, Jackson, Mike, Lees, Melissa, Dolinsky, Vernon, Cross, Leroy, Stanier, Philip, Salter, Claire, Baple, Emma L., Alkuraya, Fowzan S., Crosby, Andrew H., Triggs-Raine, Barbara, Chioza, Barry A.
Publicado 2017

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

por Fasham, James, Lin, Siying, Ghosh, Promita, Radio, Francesca Clementina, Farrow, Emily G., Thiffault, Isabelle, Kussman, Jennifer, Zhou, Dihong, Hemming, Rick, Zahka, Kenneth, Chioza, Barry A., Rawlins, Lettie E., Wenger, Olivia K., Gunning, Adam C., Pizzi, Simone, Onesimo, Roberta, Zampino, Giuseppe, Barker, Emily, Osawa, Natasha, Rodriguez, Megan Christine, Neuhann, Teresa M., Zackai, Elaine H., Keena, Beth, Capasso, Jenina, Levin, Alex V., Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Wentzensen, Ingrid M., Jackson, Adam, Chandler, Kate E., Coban-Akdemir, Zeynep H., Posey, Jennifer E., Banka, Siddharth, Lupski, James R., Sheppard, Sarah E., Tartaglia, Marco, Triggs-Raine, Barbara, Crosby, Andrew H., Baple, Emma L.
Publicado 2022