Fibrocystic Disease of Liver and Pancreas; Under-recognized features of the X-linked Ciliopathy Oral-Facial-Digital Syndrome Type 1 (OFD1)

Por Chetty-John, Shilpa, Piwnica-Worms, Katie, Bryant, Joy, Bernardini, Isa, Fischer, Roxanne E, Heller, Theo, Gahl, William A, Gunay-Aygun, Meral
Publicado em 2010

Hepatorenal Findings in Obligate Heterozygotes for Autosomal Recessive Polycystic Kidney Disease

Por Gunay-Aygun, Meral, Turkbey, Ismail Baris, Bryant, Joy, Daryanani, Kailash T., Gerstein, Maya Tuchman, Piwnica-Worms, Katie, Choyke, Peter, Heller, Theo, Gahl, William A.
Publicado em 2011

PKHD1 Sequence Variations in 78 Children and Adults with Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis

Por Gunay-Aygun, Meral, Tuchman, Maya, Font-Montgomery, Esperanza, Lukose, Linda, Edwards, Hailey, Garcia, Angelica, Ausavarat, Surasawadee, Ziegler, Shira G., Piwnica-Worms, Katie, Bryant, Joy, Bernardini, Isa, Fischer, Roxanne, Huizing, Marjan, Guay-Woodford, Lisa, Gahl, William A.
Publicado em 2009

Characteristics of Congenital Hepatic Fibrosis in a Large Cohort of Patients With Autosomal Recessive Polycystic Kidney Disease

Por Gunay–Aygun, Meral, Font–Montgomery, Esperanza, Lukose, Linda, Gerstein, Maya Tuchman, Piwnica–Worms, Katie, Choyke, Peter, Daryanani, Kailash T., Turkbey, Baris, Fischer, Roxanne, Bernardini, Isa, Sincan, Murat, Zhao, Xiongce, Sandler, Netanya G., Roque, Annelys, Douek, Daniel C., Graf, Jennifer, Huizing, Marjan, Bryant, Joy C., Mohan, Parvathi, Gahl, William A., Heller, Theo
Publicado em 2012

Correlation of Kidney Function, Volume and Imaging Findings, and PKHD1 Mutations in 73 Patients with Autosomal Recessive Polycystic Kidney Disease

Por Gunay-Aygun, Meral, Font-Montgomery, Esperanza, Lukose, Linda, Tuchman, Maya, Graf, Jennifer, Bryant, Joy C., Kleta, Robert, Garcia, Angelica, Edwards, Hailey, Piwnica-Worms, Katie, Adams, David, Bernardini, Isa, Fischer, Roxanne E., Krasnewich, Donna, Oden, Neal, Ling, Alex, Quezado, Zenaide, Zak, Colleen, Daryanani, Kailash T., Turkbey, Baris, Choyke, Peter, Guay-Woodford, Lisa M., Gahl, William A.
Publicado em 2010