Isa Bernardini
Overview
Explore the profile of Isa Bernardini including associated specialties, affiliations and a list of published articles.
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22
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922
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Recent Articles
1.
Nesterova G, Williams C, Bernardini I, Gahl W
Pediatr Nephrol
. 2014 Dec;
30(6):945-51.
PMID: 25526929
Background And Objectives: Nephropathic cystinosis is a lysosomal storage disorder characterized by renal tubular Fanconi syndrome in infancy and glomerular damage leading to renal failure at ∼10 years of age....
2.
Klootwijk E, Reichold M, Helip-Wooley A, Tolaymat A, Broeker C, Robinette S, et al.
N Engl J Med
. 2014 Jan;
370(2):129-38.
PMID: 24401050
Background: In renal Fanconi's syndrome, dysfunction in proximal tubular cells leads to renal losses of water, electrolytes, and low-molecular-weight nutrients. For most types of isolated Fanconi's syndrome, the genetic cause...
3.
Gunay-Aygun M, Font-Montgomery E, Lukose L, Gerstein M, Piwnica-Worms K, Choyke P, et al.
Gastroenterology
. 2012 Oct;
144(1):112-121.e2.
PMID: 23041322
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...
4.
Introne W, Perry M, Troendle J, Tsilou E, Kayser M, Suwannarat P, et al.
Mol Genet Metab
. 2011 May;
103(4):307-14.
PMID: 21620748
Alkaptonuria is a rare, autosomal recessive disorder of tyrosine degradation due to deficiency of the third enzyme in the catabolic pathway. As a result, homogentisic acid (HGA) accumulates and is...
5.
OBrien K, Troendle J, Gochuico B, Markello T, Salas J, Cardona H, et al.
Mol Genet Metab
. 2011 Mar;
103(2):128-34.
PMID: 21420888
Hermansky-Pudlak syndrome (HPS) is a rare disorder of oculocutaneous albinism, platelet dysfunction, and in some subtypes, fatal pulmonary fibrosis. There is no effective treatment for the pulmonary fibrosis except lung...
6.
Chetty-John S, Piwnica-Worms K, Bryant J, Bernardini I, Fischer R, Heller T, et al.
Am J Med Genet A
. 2010 Sep;
152A(10):2640-5.
PMID: 20818665
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...
7.
Pei W, Kratz L, Bernardini I, Sood R, Yokogawa T, Dorward H, et al.
Development
. 2010 Jul;
137(15):2587-96.
PMID: 20627962
Costeff Syndrome, which is caused by mutations in the OPTIC ATROPHY 3 (OPA3) gene, is an early-onset syndrome characterized by urinary excretion of 3-methylglutaconic acid (MGC), optic atrophy and movement...
8.
Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman M, Graf J, Bryant J, et al.
Clin J Am Soc Nephrol
. 2010 Apr;
5(6):972-84.
PMID: 20413436
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...
9.
Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A, et al.
Mol Genet Metab
. 2009 Nov;
99(2):160-73.
PMID: 19914852
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...
10.
Vilboux T, Kayser M, Introne W, Suwannarat P, Bernardini I, Fischer R, et al.
Hum Mutat
. 2009 Oct;
30(12):1611-9.
PMID: 19862842
Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder, characterized by accumulation of homogentisic acid, leading to darkened urine, pigmentation of connective tissue (ochronosis), joint and spine arthritis, and destruction...