Congenital Hepatic Fibrosis and Portal Hypertension in Autosomal Dominant Polycystic Kidney Disease
O'Brien, Kevin, Font‐Montgomery, Esperanza, Lukose, Linda, Bryant, Joy, Piwnica‐Worms, Katie, Edwards, Hailey, Riney, Lauren, Garcia, Angelica, Daryanani, Kailash, Choyke, Peter, Mohan, Parvathi, Heller, Theo, Gahl, William A., Gunay‐Aygun, Meral
Published in Journal of pediatric gastroenterology and nutrition (01.01.2012)
Published in Journal of pediatric gastroenterology and nutrition (01.01.2012)
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Fibrocystic disease of liver and pancreas; under‐recognized features of the X‐linked ciliopathy oral‐facial‐digital syndrome type 1 (OFD I)
Chetty‐John, Shilpa, Piwnica‐Worms, Katie, Bryant, Joy, Bernardini, Isa, Fischer, Roxanne E., Heller, Theo, Gahl, William A., Gunay‐Aygun, Meral
Published in American journal of medical genetics. Part A (01.10.2010)
Published in American journal of medical genetics. Part A (01.10.2010)
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Journal Article
Characteristics of Congenital Hepatic Fibrosis in a Large Cohort of Patients With Autosomal Recessive Polycystic Kidney Disease
Gunay–Aygun, Meral, Font–Montgomery, Esperanza, Lukose, Linda, Tuchman Gerstein, Maya, 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
Published in Gastroenterology (New York, N.Y. 1943) (01.01.2013)
Published in Gastroenterology (New York, N.Y. 1943) (01.01.2013)
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Correlation of Kidney Function, Volume and Imaging Findings, and PKHD1 Mutations in 73 Patients with Autosomal Recessive Polycystic Kidney Disease
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
Published in Clinical journal of the American Society of Nephrology (01.06.2010)
Published in Clinical journal of the American Society of Nephrology (01.06.2010)
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Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease
Gunay-Aygun, Meral, Turkbey, Baris I., Bryant, Joy, Daryanani, Kailash T., Gerstein, Maya Tuchman, Piwnica-Worms, Katie, Choyke, Peter, Heller, Theo, Gahl, William A.
Published in Molecular genetics and metabolism (01.12.2011)
Published in Molecular genetics and metabolism (01.12.2011)
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Journal Article
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis
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.
Published in Molecular genetics and metabolism (01.02.2010)
Published in Molecular genetics and metabolism (01.02.2010)
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Journal Article
Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I)
Chetty-John, Shilpa, Piwnica-Worms, Katie, Bryant, Joy, Bernardini, Isa, Fischer, Roxanne E., Heller, Theo, Gahl, William A., Gunay-Aygun, Meral
Published in American Journal of Medical Genetics Part A (01.10.2010)
Published in American Journal of Medical Genetics Part A (01.10.2010)
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