Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Katie Piwnica–Worms"'
Publikováno v:
Health Affairs. 32:102-110
Graduate medical education (GME), the system to train graduates of medical schools in their chosen specialties, costs the government nearly $13 billion annually, yet there is little accountability in the system for addressing critical physician short
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62bf298d1b99b9a76b66d6b4b1bc2f47
https://doi.org/10.1377/hlthaff.2012.0032
https://doi.org/10.1377/hlthaff.2012.0032
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:
Joy Bryant, Meral Gunay-Aygun, Theo Heller, Katie Piwnica-Worms, Isa Bernardini, Shilpa Chetty-John, Roxanne Fischer, William A. Gahl
Publikováno v:
American Journal of Medical Genetics Part A. :2640-2645
OFD I is an X-linked dominant male-lethal ciliopathy characterized by prominent external features including oral clefts, hamartomas or cysts of the tongue, and digital anomalies. Although these external features are easy to recognize and often lead t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5ba8f7d979e2da95d69eb1425e5582d1
https://doi.org/10.1002/ajmg.a.33666
https://doi.org/10.1002/ajmg.a.33666
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:
Joy Bryant, Maya Gerstein, William A. Gahl, Theo Heller, Peter L. Choyke, Katie Piwnica-Worms, Kailash T. Daryanani, Meral Gunay-Aygun, Baris Turkbey
Autosomal recessive polycystic kidney disease (ARPKD), characterized by progressive cystic degeneration of the kidneys and congenital hepatic fibrosis (CHF), is the most common childhood onset ciliopathy, with an estimated frequency of 1 in 20,000 bi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b27a4f35cfdccccbb15383302410227
https://europepmc.org/articles/PMC3224207/
https://europepmc.org/articles/PMC3224207/