Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Linda Lukose"'
Autor:
Meral Gunay-Aygun, Nehna Abdul Majeed, Linda Lukose, Theo Heller, Joy Bryant, Esperanza Font-Montgomery, Peter L. Choyke, Peter Veppumthara, Ismail B. Turkbey, William A. Gahl
Publikováno v:
Mol Genet Metab
Background and objectives We have previously published the characteristics of kidney and liver disease in a cohort of 73 individuals with molecularly confirmed autosomal recessive polycystic kidney disease-congenital hepatic fibrosis, based upon cros
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::965d7bd92f4d9f7df58609835bfd92b6
https://doi.org/10.1016/j.ymgme.2020.08.006
https://doi.org/10.1016/j.ymgme.2020.08.006
Autor:
Kevin O'Brien, Esperanza Font-Montgomery, Parvathi Mohan, Theo Heller, Katie Piwnica-Worms, Linda Lukose, Meral Gunay-Aygun, Peter L. Choyke, Kailash Daryanani, Hailey Edwards, Joy Bryant, William A. Gahl, Angelica Garcia, Lauren C. Riney
Publikováno v:
J Pediatr Gastroenterol Nutr
Objectives Autosomal dominant (ADPKD) and recessive (ARPKD) polycystic kidney diseases are the most common hepatorenal fibrocystic diseases (ciliopathies). Characteristics of liver disease of these disorders are quite different. All of the patients w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a798de38ef3e07e8311810c94d57e02
https://doi.org/10.1097/mpg.0b013e318228330c
https://doi.org/10.1097/mpg.0b013e318228330c
Autor:
David H. Adams, Esperanza Font-Montgomery, Donna M. Krasnewich, Maya Tuchman, Lisa M. Guay-Woodford, Peter L. Choyke, Roxanne Fischer, Katie Piwnica-Worms, Neal L. Oden, Colleen Zak, William A. Gahl, Linda Lukose, Alexander Ling, Isa Bernardini, Baris Turkbey, Hailey Edwards, Robert Kleta, Joy Bryant, Zenaide M.N. Quezado, Jennifer Graf, Meral Gunay-Aygun, Kailash T. Daryanani, Angelica Garcia
Publikováno v:
Clinical Journal of the American Society of Nephrology. 5:972-984
Background and objectives: Renal function and imaging findings have not been comprehensively and prospectively characterized in a broad age range of patients with molecularly confirmed autosomal recessive polycystic kidney disease (ARPKD). Design, se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::553e2e77e69675e7e79f8b5a9db2272b
https://doi.org/10.2215/cjn.07141009
https://doi.org/10.2215/cjn.07141009
Autor:
Maya Tuchman, Joy Bryant, Meral Gunay-Aygun, Esperanza Font-Montgomery, Katie Piwnica-Worms, Shira G. Ziegler, Lisa M. Guay-Woodford, Hailey Edwards, Roxanne Fischer, William A. Gahl, Surasawadee Ausavarat, Marjan Huizing, Isa Bernardini, Linda Lukose, Angelica Garcia
Publikováno v:
Molecular Genetics and Metabolism. 99:160-173
PKHD1, the gene mutated in autosomal recessive polycystic kidney disease (ARPKD)/Congenital hepatic fibrosis (CHF), is an exceptionally large and complicated gene that consists of 86 exons and has a number of alternatively spliced transcripts. Its lo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26812e2a2af9e76a82f51aeb8f9852d9
https://doi.org/10.1016/j.ymgme.2009.10.010
https://doi.org/10.1016/j.ymgme.2009.10.010
Autor:
Murat Sincan, Jennifer Graf, Meral Gunay Aygun, Baris Turkbey, Katie Piwnica–Worms, Peter L. Choyke, Netanya G. Sandler, Xiongce Zhao, Joy Bryant, Theo Heller, Kailash T. Daryanani, Annelys Roque, Daniel C. Douek, Marjan Huizing, Esperanza Font–Montgomery, Isa Bernardini, Linda Lukose, Roxanne Fischer, William A. Gahl, Maya Gerstein, Parvathi Mohan
Background & Aims Autosomal recessive polycystic kidney disease (ARPKD), the most common ciliopathy of childhood, is characterized by congenital hepatic fibrosis and progressive cystic degeneration of kidneys. We aimed to describe congenital hepatic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::653496aae2c56d97f45d99ec6538728b
https://europepmc.org/articles/PMC4162098/
https://europepmc.org/articles/PMC4162098/
Autor:
Parvathi Mohan, Peter L. Choyke, Joy Bryant, Maya Tuchman, Theo Heller, Kailash Daryanani, Meral Gunay-Aygun, William A. Gahl, Esperanza Font-Montgomery, Baris Turkbey, Iclal Ocak, Linda Lukose
Publikováno v:
Pediatric radiology. 39(2)
ARPKD/CHF is an inherited disease characterized by non-obstructive fusiform dilatation of the renal collecting ducts leading to enlarged spongiform kidneys and ductal plate malformation of the liver resulting in congenital hepatic fibrosis. ARPKD/CHF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe90c53cc893cf29b1d36f55bbd716cd
https://pubmed.ncbi.nlm.nih.gov/19089418
https://pubmed.ncbi.nlm.nih.gov/19089418