Publications by authors named "Isa Bernardini"

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Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3.
Ighovie F Onojafe, Lucyanne H Megan, Madeline G Melch, Joseph O Aderemi, Ramakrishna P Alur, Isa M Bernardini

Invest Ophthalmol Vis Sci· October 2018

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Cystinosis: renal glomerular and renal tubular function in relation to compliance with cystine-depleting therapy.
Galina Nesterova, Caitlyn Williams, Isa Bernardini, William A Gahl

Pediatr Nephrol· June 2015

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Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.
Enriko D Klootwijk, Markus Reichold, Amanda Helip-Wooley, Asad Tolaymat, Carsten Broeker, Isa Bernardini

N Engl J Med· January 2014

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Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease.
Meral Gunay-Aygun, Esperanza Font-Montgomery, Linda Lukose, Maya Tuchman Gerstein, Katie Piwnica-Worms, Isa Bernardini

Gastroenterology· January 2013

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Two novel CTNS mutations in cystinosis patients in Thailand.
Patra Yeetong, Siraprapa Tongkobpetch, Pornchai Kingwatanakul, Tawatchai Deekajorndech, Isa M Bernardini

Gene· May 2012

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Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism.
Ighovie F Onojafe, David R Adams, Dimitre R Simeonov, Jun Zhang, Chi-Chao Chan, Isa M Bernardini

J Clin Invest· October 2011

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A 3-year randomized therapeutic trial of nitisinone in alkaptonuria.
Wendy J Introne, Monique B Perry, James Troendle, Ekaterini Tsilou, Michael A Kayser, Isa Bernardini

Mol Genet Metab· August 2011

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Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis.
Kevin O'Brien, James Troendle, Bernadette R Gochuico, Thomas C Markello, Jose Salas, Isa Bernardini

Mol Genet Metab· June 2011

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Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy.
Susan P Bothwell, Emily Chan, Isa M Bernardini, Yien-Ming Kuo, William A Gahl

J Am Soc Nephrol· March 2011

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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).
Shilpa Chetty-John, Katie Piwnica-Worms, Joy Bryant, Isa Bernardini, Roxanne E Fischer

Am J Med Genet A· October 2010

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A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.
Wuhong Pei, Lisa E Kratz, Isa Bernardini, Raman Sood, Tohei Yokogawa

Development· August 2010

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Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.
Meral Gunay-Aygun, Esperanza Font-Montgomery, Linda Lukose, Maya Tuchman, Jennifer Graf, Isa Bernardini

Clin J Am Soc Nephrol· June 2010

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PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Meral Gunay-Aygun, Maya Tuchman, Esperanza Font-Montgomery, Linda Lukose, Hailey Edwards, Isa Bernardini

Mol Genet Metab· February 2010

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Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
Thierry Vilboux, Michael Kayser, Wendy Introne, Pim Suwannarat, Isa Bernardini

Hum Mutat· December 2009

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Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation.
Masako Ueda, Kevin O'Brien, Douglas R Rosing, Alexander Ling, Robert Kleta, Isa Bernardini

Clin J Am Soc Nephrol· May 2006

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Nodular regenerative hyperplasia and severe portal hypertension in cystinosis.
Kevin O'Brien, Nadeem Hussain, Bradley A Warady, David E Kleiner, Robert Kleta, Isa Bernardini

Clin Gastroenterol Hepatol· March 2006

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Use of nitisinone in patients with alkaptonuria.
Pim Suwannarat, Kevin O'Brien, Monique B Perry, Nancy Sebring, Isa Bernardini

Metabolism· June 2005

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Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy.
Barbara C Sonies, Phaedra Almajid, Robert Kleta, Isa Bernardini, William A Gahl

Medicine (Baltimore)· May 2005

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Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain.
Pim Suwannarat, Chanika Phornphutkul, Isa Bernardini, Maria Turner, William A Gahl

Arthritis Rheum· November 2004

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Long-term follow-up of well-treated nephropathic cystinosis patients.
Robert Kleta, Isa Bernardini, Masako Ueda, William S Varade, Chanika Phornphutkul

J Pediatr· October 2004

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Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.
Robert Kleta, Elisa Romeo, Zorica Ristic, Toshihiro Ohura, Caroline Stuart, Isa Bernardini

Nat Genet· September 2004

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Revised sections F7.5 (quantitative amino acid analysis) and F7.6 (qualitative amino acid analysis): American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories, 2003.
Robert E Grier, William A Gahl, Tina Cowan, Isa Bernardini, Geraldine A McDowell

Genet Med· July 2004

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Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.
Robert Kleta, Richard P Morse, Eduard Orvisky, Donna Krasnewich, Joseph Alroy, Isa Bernardini

Mol Genet Metab· June 2004

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Keratopathy of multiple myeloma masquerading as corneal crystals of ocular cystinosis.
Robert Kleta, Scott C Blair, Isa Bernardini, Muriel I Kaiser-Kupfer, William A Gahl

Mayo Clin Proc· March 2004

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Natural history of alkaptonuria.
Chanika Phornphutkul, Wendy J Introne, Monique B Perry, Isa Bernardini, Mark D Murphey

N Engl J Med· December 2002

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