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

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

A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome

Autor: Thierry Vilboux, Robert Kleta, Carsten Heilmann, Amanda Helip-Wooley, Bradford Tinloy, Jens Michael Hertz, Wendy Westbroek, Maya Tuchman, Olivier De Wever, William A. Gahl, Henrik Hasle

Publikováno v: Westbroek, W, Tuchman, M, Tinloy, B, De Wever, O, Vilboux, T, Hertz, J M, Hasle, H, Heilmann, C, Helip-Wooley, A, Kleta, R & Gahl, W A 2008, ' A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome ', Molecular Genetics and Metabolism, vol. 94, no. 2, pp. 248-54 . https://doi.org/10.1016/j.ymgme.2008.02.009

Udgivelsesdato: 2008-Jun The autosomal recessive Griscelli syndrome type II (GSII) is caused by mutations in the RAB27A gene. Typical clinical features include immunological impairment, silver-gray scalp hair, eyelashes and eyebrows and hypomelanosis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0969b2760f22504fe8d3edefd666108
https://doi.org/10.1016/j.ymgme.2008.02.009

Genetics of Fibrocystic Diseases of the Liver and Molecular Approaches to Therapy

Autor: Maya Tuchman, William A. Gahl, Meral Gunay-Aygun

Publikováno v: Fibrocystic Diseases of the Liver ISBN: 9781603275231

Congenital hepatic fibrosis (CHF), Caroli’s disease (CD), and polycystic liver disease (PLD) are the three major descriptive categories of fibrocystic liver disease. Caroli’s syndrome (CS) and CD probably represent different presentations of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3ff2c9669002df89093e3da51e1aa358
https://doi.org/10.1007/978-1-60327-524-8_4

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)

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

Cost-effectiveness of an Evidence-Based Childhood Asthma Intervention in Real-World Primary Care Settings.

Autor: Dor A; Department of Health Policy and Management, Milken Institute School of Public Health, The George Washington University, Washington, District of Columbia (Drs Dor and Markus, Mr Luo, and Ms Gerstein); Merck Childhood Asthma Network, Washington, District of Columbia (Dr Malveaux); and Rho, Chapel Hill, North Carolina (Dr Mitchell)., Luo Q, Gerstein MT, Malveaux F, Mitchell H, Markus AR

Publikováno v: The Journal of ambulatory care management [J Ambul Care Manage] 2018 Jul/Sep; Vol. 41 (3), pp. 213-224.