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Isa Bernardini

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Meral Gunay-Aygun; Isa Bernardini; Joy C Bryant; Peter Choyke; Kailash T Daryanani; Daniel C Douek; Roxanne Fischer; Esperanza Font-Montgomery; William A Gahl; Jennifer Graf; Marjan Huizing; Linda Lukose; Parvathi Mohan; Katie Piwnica-Worms; Annelys Roque; Netanya G Sandler; Murat Sincan; Maya Tuchman Gerstein; Baris Turkbey; Xiongce Zhao; Theo Heller
Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease.
Kevin O'Brien; James F Troendle; Bernadette R Gochuico; Thomas C Markello; Jose Salas; Hilda Cardona; Jianhua Yao; Isa Bernardini; Richard Hess; William A Gahl
Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis.
Shilpa Chetty-John; Katie Piwnica-Worms; Joy Bryant; Isa Bernardini; Roxanne E Fischer; Theo Heller; William A Gahl; Meral Gunay-Aygun
Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I).

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All Publications

2013: Meral Gunay-Aygun; Isa Bernardini; Joy C Bryant; Peter Choyke; Kailash T Daryanani; Daniel C Douek; Roxanne Fischer; Esperanza Font-Montgomery; William A Gahl; Jennifer Graf; Marjan Huizing; Linda Lukose; Parvathi Mohan; Katie Piwnica-Worms; Annelys Roque; Netanya G Sandler; Murat Sincan; Maya Tuchman Gerstein; Baris Turkbey; Xiongce Zhao; Theo Heller
Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease.
Gastroenterology 2013;144(1):112-121.e2.
2011: Kevin O'Brien; James F Troendle; Bernadette R Gochuico; Thomas C Markello; Jose Salas; Hilda Cardona; Jianhua Yao; Isa Bernardini; Richard Hess; William A Gahl
Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis.
Molecular genetics and metabolism 2011;103(2):128-34.
2010: Shilpa Chetty-John; Katie Piwnica-Worms; Joy Bryant; Isa Bernardini; Roxanne E Fischer; Theo Heller; William A Gahl; Meral Gunay-Aygun
Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I).
American journal of medical genetics. Part A 2010;152A(10):2640-5.
2010: Wuhong Pei; Lisa Kratz; Isa Bernardini; Raman Sood; Tohei Yokogawa; Heidi Dorward; Carla Ciccone; Richard I Kelley; Yair Anikster; Harold A Burgess; Marjan Huizing; Benjamin Feldman
A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.
Development (Cambridge, England) 2010;137(15):2587-96.
2010: Meral Gunay-Aygun; Esperanza Font-Montgomery; Linda Lukose; Maya Tuchman; Jennifer Graf; Joy C Bryant; Robert Kleta; Angelica Garcia; Hailey Edwards; Katie Piwnica-Worms; David Adams; Isa Bernardini; Roxanne E Fischer; Donna Krasnewich; Neal Oden; Alex Ling; Zenaide Quezado; Colleen Zak; Kailash T Daryanani; Baris Turkbey; Peter Choyke; Lisa M Guay-Woodford; William A Gahl
Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.
Clinical journal of the American Society of Nephrology : CJASN 2010;5(6):972-84.
2010: Meral Gunay-Aygun; Maya Tuchman; Esperanza Font-Montgomery; Linda Lukose; Hailey Edwards; Angelica Garcia; Surasawadee Ausavarat; Shira G Ziegler; Katie Piwnica-Worms; Joy Bryant; Isa Bernardini; Roxanne Fischer; Marjan Huizing; Lisa M Guay-Woodford; William A Gahl
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Molecular genetics and metabolism 2010;99(2):160-73.
2009: Thierry Vilboux; Michael Kayser; Wendy Introne; Pim Suwannarat; Isa Bernardini; Roxanne Fischer; Kevin O'Brien; Robert Kleta; Marjan Huizing; William A Gahl
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
Human mutation 2009;30(12):1611-9.
2006: Masako Ueda; Kevin O'Brien; Douglas R Rosing; Alexander Ling; Robert Kleta; Dorothea McAreavey; Isa Bernardini; William A Gahl
Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation.
Clinical journal of the American Society of Nephrology : CJASN 2006;1(3):555-62.
2006: Kevin O'Brien; Nadeem Hussain; Bradley A Warady; David E Kleiner; Robert Kleta; Isa Bernardini; Theo Heller; William A Gahl
Nodular regenerative hyperplasia and severe portal hypertension in cystinosis.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2006;4(3):387-94.
2005: Pim Suwannarat; Kevin O'Brien; Monique B Perry; Nancy G Sebring; Isa Bernardini; Muriel I Kaiser-Kupfer; Benjamin I Rubin; Ekaterini T Tsilou; Lynn H Gerber; William A Gahl
Use of nitisinone in patients with alkaptonuria.
Metabolism: clinical and experimental 2005;54(6):719-28.
2005: Barbara C Sonies; Phaedra Almajid; Robert Kleta; Isa Bernardini; William A Gahl
Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy.
Medicine 2005;84(3):137-46.
2004: Pim Suwannarat; Chanika Phornphutkul; Isa Bernardini; Maria Turner; William A Gahl
Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain.
Arthritis and rheumatism 2004;50(11):3698-701.
2004: Robert Kleta; Isa Bernardini; Masako Ueda; William S Varade; Chanika Phornphutkul; Donna Krasnewich; William A Gahl
Long-term follow-up of well-treated nephropathic cystinosis patients.
The Journal of pediatrics 2004;145(4):555-60.
2004: Robert Kleta; Elisa Romeo; Zorica Ristic; Toshihiro Ohura; Caroline Stuart; Mauricio Arcos-Burgos; Mital H Dave; Carsten A Wagner; Simone R M Camargo; Sumiko Inoue; Norio Matsuura; Amanda Helip-Wooley; Detlef Bockenhauer; Richard Warth; Isa Bernardini; Gepke Visser; Thomas Eggermann; Philip Lee; Arthit Chairoungdua; Promsuk Jutabha; Ellappan Babu; Sirinun Nilwarangkoon; Naohiko Anzai; Yoshikatsu Kanai; François Verrey; William A Gahl; Akio Koizumi
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.
Nature genetics 2004;36(9):999-1002.
2004: Robert Kleta; Richard P Morse; Eduard Orvisky; Donna Krasnewich; Joseph Alroy; Angelo A Ucci; Isa Bernardini; David A Wenger; William A Gahl
Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.
Molecular genetics and metabolism 2004;82(2):137-43.
2004: Robert Kleta; Scott C Blair; Isa Bernardini; Muriel I Kaiser-Kupfer; William A Gahl
Keratopathy of multiple myeloma masquerading as corneal crystals of ocular cystinosis.
Mayo Clinic proceedings. Mayo Clinic 2004;79(3):410-2.
2002: Chanika Phornphutkul; Wendy J Introne; Monique B Perry; Isa Bernardini; Mark D Murphey; Diana L Fitzpatrick; Paul D Anderson; Marjan Huizing; Yair Anikster; Lynn H Gerber; William A Gahl
Natural history of alkaptonuria.
The New England journal of medicine 2002;347(26):2111-21.
2002: Wendy J Introne; Chanika Phornphutkul; Isa Bernardini; Kevin McLaughlin; Diana Fitzpatrick; William A Gahl
Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation.
Molecular genetics and metabolism 2002;77(1-2):136-42.
2001: Robert Kleta; Yair Anikster; C Lucero; V Shotelersuk; Marjan Huizing; Isa Bernardini; M Park; Jess G Thoene; J Schneider; William A Gahl
CTNS mutations in African American patients with cystinosis.
Molecular genetics and metabolism 2001;74(3):332-7.
2000: Yair Anikster; C Lucero; J Guo; Marjan Huizing; V Shotelersuk; Isa Bernardini; Geraldine A McDowell; Fumino Iwata; Muriel I Kaiser-Kupfer; R Jaffe; Jess G Thoene; Jerry A Schneider; William A Gahl
Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.
Pediatric research 2000;47(1):17-23.
1998: V Shotelersuk; D Larson; Yair Anikster; Geraldine A McDowell; Rosemary Lemons; Isa Bernardini; J Guo; Jess G Thoene; William A Gahl
CTNS mutations in an American-based population of cystinosis patients.
American journal of human genetics 1998;63(5):1352-62.
1998: V Shotelersuk; S Hazelwood; D Larson; Fumino Iwata; Muriel I Kaiser-Kupfer; EM Kuehl; Isa Bernardini; William A Gahl
Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations.
Molecular genetics and metabolism 1998;64(2):99-107.
1998: William A Gahl; Mark L Brantly; Muriel I Kaiser-Kupfer; Fumino Iwata; S Hazelwood; V Shotelersuk; L F Duffy; EM Kuehl; James F Troendle; Isa Bernardini
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome).
The New England journal of medicine 1998;338(18):1258-64.
1998: S Hazelwood; Isa Bernardini; V Shotelersuk; A Tangerman; J Guo; H Mudd; William A Gahl
Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III.
American journal of medical genetics 1998;75(4):395-400.
1996: SB Potterf; J Muller; Isa Bernardini; F Tietze; Takeshi Kobayashi; Vincent J Hearing; William A Gahl
Characterization of a melanosomal transport system in murine melanocytes mediating entry of the melanogenic substrate tyrosine.
The Journal of biological chemistry 1996;271(8):4002-8.
1995: William A Gahl; J Ingelfinger; P Mohan; Isa Bernardini; P E Hyman; A Tangerman
Intravenous cysteamine therapy for nephropathic cystinosis.
Pediatric research 1995;38(4):579-84.
1994: L R Charnas; Carlos A Luciano; Marinos C Dalakas; R W Gilliatt; Isa Bernardini; K Ishak; V A Cwik; D Fraker; Thomas M Brushart; William A Gahl
Distal vacuolar myopathy in nephropathic cystinosis.
Annals of neurology 1994;35(2):181-8.
1993: S Oshiro; H Nakajima; T Markello; D Krasnewich; Isa Bernardini; William A Gahl
Redox, transferrin-independent, and receptor-mediated endocytosis iron uptake systems in cultured human fibroblasts.
The Journal of biological chemistry 1993;268(29):21586-91.
1993: William A Gahl; Isa Bernardini; Marinos C Dalakas; T C Markello; D M Krasnewich; L R Charnas
Muscle carnitine repletion by long-term carnitine supplementation in nephropathic cystinosis.
Pediatric research 1993;34(2):115-9.
1993: T C Markello; Isa Bernardini; William A Gahl
Improved renal function in children with cystinosis treated with cysteamine.
The New England journal of medicine 1993;328(16):1157-62.
1993: William A Gahl; Isa Bernardini; F Tietze; L D Kohn
Effects of cycloheximide and tunicamycin on lysosomal cystine transport in rat FRTL-5 cells.
Biochemical medicine and metabolic biology 1993;49(2):243-54.
1992: William A Gahl; L Charnas; T C Markello; Isa Bernardini; K G Ishak; Marinos C Dalakas
Parenchymal organ cystine depletion with long-term cysteamine therapy.
Biochemical medicine and metabolic biology 1992;48(3):275-85.
1992: Stephen G Kaler; A M Garrity; H J Stern; K N Rosenbaum; B M Orrison; Joan C Marini; Isa Bernardini; Howard M Saal
New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters.
American journal of medical genetics 1992;43(6):983-8.
1992: M Adamson; B Reiner; J L Olson; Z Goodman; Leslie P Plotnick; Isa Bernardini; William A Gahl
Indian childhood cirrhosis in an American child.
Gastroenterology 1992;102(5):1771-7.
1992: Henk J Blom; A J Davidson; J D Finkelstein; A S Luder; Isa Bernardini; J J Martin; A Tangerman; J M Trijbels; S. Harvey Mudd; Stephen I Goodman
Persistent hypermethioninaemia with dominant inheritance.
Journal of inherited metabolic disease 1992;15(2):188-97.
1991: Isa Bernardini; Mark I Evans; K H Nicolaides; D L Economides; William A Gahl
The fetal concentrating index as a gestational age-independent measure of placental dysfunction in intrauterine growth retardation.
American journal of obstetrics and gynecology 1991;164(6 Pt 1):1481-7; discussion 1487-90.
1991: L R Charnas; Isa Bernardini; D Rader; J M Hoeg; William A Gahl
Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function.
The New England journal of medicine 1991;324(19):1318-25.
1990: R Seppala; M Renlund; Isa Bernardini; F Tietze; William A Gahl
Renal handling of free sialic acid in normal humans and patients with Salla disease or renal disease.
Laboratory investigation; a journal of technical methods and pathology 1990;63(2):197-203.
1990: Hans Andersson; L D Kohn; Isa Bernardini; Henk J Blom; F Tietze; William A Gahl
Characterization of lysosomal monoiodotyrosine transport in rat thyroid cells. Evidence for transport by system h.
The Journal of biological chemistry 1990;265(19):10950-4.
1989: D L Economides; K H Nicolaides; William A Gahl; Isa Bernardini; Mark I Evans
Plasma amino acids in appropriate- and small-for-gestational-age fetuses.
American journal of obstetrics and gynecology 1989;161(5):1219-27.
1989: D L Economides; K H Nicolaides; William A Gahl; Isa Bernardini; S Bottoms; M Evans
Cordocentesis in the diagnosis of intrauterine starvation.
American journal of obstetrics and gynecology 1989;161(4):1004-8.
1989: F Tietze; L D Kohn; A D Kohn; Isa Bernardini; Hans Andersson; M D Adamson; Gregory Harper; William A Gahl
Carrier-mediated transport of monoiodotyrosine out of thyroid cell lysosomes.
The Journal of biological chemistry 1989;264(9):4762-5.
1988: Gregory Harper; L D Kohn; Isa Bernardini; J Bernar; F Tietze; Hans Andersson; William A Gahl
Thyrotropin stimulation of lysosomal tyrosine transport in rat FRTL-5 thyroid cells.
The Journal of biological chemistry 1988;263(19):9320-5.
1988: William A Gahl; Isa Bernardini; J D Finkelstein; A Tangerman; J J Martin; Henk J Blom; K D Mullen; S. Harvey Mudd
Transsulfuration in an adult with hepatic methionine adenosyltransferase deficiency.
The Journal of clinical investigation 1988;81(2):390-7.
1988: William A Gahl; Isa Bernardini; Marinos C Dalakas; W B Rizzo; Gregory Harper; J M Hoeg; O Hurko; J Bernar
Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome.
The Journal of clinical investigation 1988;81(2):549-60.
1988: William A Gahl; Isa Bernardini; S Chen; D Kurtz; K Horvath
The effect of oral betaine on vertebral body bone density in pyridoxine-non-responsive homocystinuria.
Journal of inherited metabolic disease 1988;11(3):291-8.
1987: Gregory Harper; Isa Bernardini; O Hurko; J Zuurveld; William A Gahl
Cystine storage in cultured myotubes from patients with nephropathic cystinosis.
The Biochemical journal 1987;243(3):841-5.
1987: William A Gahl; J D Finkelstein; K D Mullen; Isa Bernardini; J J Martin; P Backlund; K G Ishak; J H Hoofnagle; S. Harvey Mudd
Hepatic methionine adenosyltransferase deficiency in a 31-year-old man.
American journal of human genetics 1987;40(1):39-49.
1986: J Bernar; F Tietze; L D Kohn; Isa Bernardini; Gregory Harper; E F Grollman; William A Gahl
Characteristics of a lysosomal membrane transport system for tyrosine and other neutral amino acids in rat thyroid cells.
The Journal of biological chemistry 1986;261(36):17107-12.
1985: Isa Bernardini; W B Rizzo; Marinos C Dalakas; J Bernar; William A Gahl
Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome.
The Journal of clinical investigation 1985;75(4):1124-30.
1984: N Bashan; William A Gahl; F Tietze; Isa Bernardini; J D Schulman
The effect of ions and ionophores on cystine egress from human leucocyte lysosome-rich granular fraction.
Biochimica et biophysica acta 1984;777(2):267-73.
1983: William A Gahl; F Tietze; N Bashan; Isa Bernardini; D Raiford; J D Schulman
Characteristics of cystine counter-transport in normal and cystinotic lysosome-rich leucocyte granular fractions.
The Biochemical journal 1983;216(2):393-400.
1982: William A Gahl; N Bashan; F Tietze; Isa Bernardini; J D Schulman
Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis.
Science (New York, N.Y.) 1982;217(4566):1263-5.