Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III
Belostotsky, Ruth, Seboun, Eric, Idelson, Gregory H., Milliner, Dawn S., Becker-Cohen, Rachel, Rinat, Choni, Monico, Carla G., Feinstein, Sofia, Ben-Shalom, Efrat, Magen, Daniella, Weissman, Irith, Charon, Celine, Frishberg, Yaacov
Published in American journal of human genetics (10.09.2010)
Published in American journal of human genetics (10.09.2010)
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Journal Article
Primary Hyperoxaluria Type III Gene HOGA1 (Formerly DHDPSL) as a Possible Risk Factor for Idiopathic Calcium Oxalate Urolithiasis
Monico, Carla G, Rossetti, Sandro, Belostotsky, Ruth, Cogal, Andrea G, Herges, Regina M, Seide, Barbara M, Olson, Julie B, Bergstrahl, Eric J, Williams, Hugh J, Haley, William E, Frishberg, Yaacov, Milliner, Dawn S
Published in Clinical journal of the American Society of Nephrology (01.09.2011)
Published in Clinical journal of the American Society of Nephrology (01.09.2011)
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Journal Article
Cardiac Abnormalities in Primary Hyperoxaluria
Mookadam, Farouk, Smith, Travis, Jiamsripong, Panupong, Moustafa, Sherif E, Monico, Carla G., Lieske, John C., Milliner, Dawn S.
Published in Circulation Journal (2010)
Published in Circulation Journal (2010)
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Journal Article
Phenotypic and functional analysis of human SLC26A6 variants in patients with familial hyperoxaluria and calcium oxalate nephrolithiasis
Monico, Carla G, Weinstein, Adam, Jiang, Zhirong, Rohlinger, Audrey L, Cogal, Andrea G, Bjornson, Beth B, Olson, Julie B, Bergstralh, Eric J, Milliner, Dawn S, Aronson, Peter S
Published in American journal of kidney diseases (01.12.2008)
Published in American journal of kidney diseases (01.12.2008)
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Journal Article
International Registry for Primary Hyperoxaluria
Lieske, John C., Monico, Carla G., Holmes, W. Scott, Bergstralh, Erik J., Slezak, Jeffrey M., Rohlinger, Audrey L., Olson, Julie B., Milliner, Dawn S.
Published in American journal of nephrology (01.05.2005)
Published in American journal of nephrology (01.05.2005)
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Journal Article
Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2
Tammachote, Rachaneekorn, Kingsuwannapong, Nelawat, Tongkobpetch, Siraprapa, Srichomthong, Chalurmpon, Yeetong, Patra, Kingwatanakul, Pornchai, Monico, Carla G., Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Published in American journal of medical genetics. Part A (01.09.2012)
Published in American journal of medical genetics. Part A (01.09.2012)
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Journal Article
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene
Williams, Emma L, Acquaviva, Cecile, Amoroso, Antonio, Chevalier, Francoise, Coulter-Mackie, Marion, Monico, Carla G, Giachino, Daniela, Owen, Tricia, Robbiano, Angela, Salido, Eduardo, Waterham, Hans, Rumsby, Gill
Published in Human mutation (01.06.2009)
Published in Human mutation (01.06.2009)
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Journal Article
Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele
Monico, Carla G., Rossetti, Sandro, Olson, Julie B., Milliner, Dawn S.
Published in Kidney international (01.05.2005)
Published in Kidney international (01.05.2005)
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Journal Article
Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis
MONICO, Carla G, ROSSETTI, Sandro, SCHWANZ, Heidi A, OLSON, Julie B, LUNDQUIST, Patrick A, BRIAN DAWSON, D, HARRIS, Peter C, MILLINER, Dawn S
Published in Journal of the American Society of Nephrology (01.06.2007)
Published in Journal of the American Society of Nephrology (01.06.2007)
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Journal Article
Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II
Monico, Carla G., Persson, Mai, Ford, G. Charles, Rumsby, Gill, Milliner, Dawn S.
Published in Kidney international (01.08.2002)
Published in Kidney international (01.08.2002)
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Journal Article
Primary hyperoxaluria: new directions for diagnosis and treatment
Ishitani, Michael B, Monico, Carla G, Milliner, Dawn S
Published in Paediatrics and child health (2008)
Published in Paediatrics and child health (2008)
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Journal Article
Transplantation Outcomes in Primary Hyperoxaluria
Bergstralh, E. J., Monico, C. G., Lieske, J. C., Herges, R. M., Langman, C. B., Hoppe, B., Milliner, D. S.
Published in American journal of transplantation (01.11.2010)
Published in American journal of transplantation (01.11.2010)
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Journal Article
Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria TypeDDD
Belostotsky, Ruth, Seboun, Eric, Idelson, Gregory H, Milliner, Dawn S, Becker-Cohen, Rachel, Rinat, Choni, Monico, Carla G, Feinstein, Sofia, Ben-Shalom, Efrat, Magen, Daniella, Weissman, Irith, Charon, Celine, Frishberg, Yaacov
Published in American journal of human genetics (10.09.2010)
Published in American journal of human genetics (10.09.2010)
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Journal Article
Glyoxylate reductase activity in blood mononuclear cells and the diagnosis of primary hyperoxaluria type 2. Commentary
RUMSBY, Gill, KNIGHT, John, HOLMES, Ross P, MILLINER, Dawn S, MONICO, Carla G, CRAMER, Scott D
Published in Nephrology, dialysis, transplantation (2006)
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Published in Nephrology, dialysis, transplantation (2006)
Journal Article
Enteric hyperoxaluria, oxalate nephropathy, and nephrolithiasis: Unappreciated and frequent complications of Roux-en-Y gastric bypass
Nelson, Wayne K., Houghton, Scott G., Monico, Carla G., Milliner, Dawn S., Lieske, John C., Sarr, Michael G.
Published in Surgery for obesity and related diseases (01.05.2005)
Published in Surgery for obesity and related diseases (01.05.2005)
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Journal Article