Search Results - "FATHY, Hanan"
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Clinical performance of resin-matrix ceramic partial coverage restorations: a systematic review
Published in Clinical oral investigations (01-05-2022)“…Objective To evaluate clinical performance of the new CAD/CAM resin-matrix ceramics and compare it with ceramic partial coverage restorations. Materials and…”
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2
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome
Published in Journal of the American Society of Nephrology (01-06-2015)“…Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of ESRD in the first two decades of life. Effective treatment is lacking. First…”
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Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis
Published in Kidney international (01-01-2018)“…The incidence of nephrolithiasis continues to rise. Previously, we showed that a monogenic cause could be detected in 11.4% of individuals with adult-onset…”
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Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract
Published in Journal of the American Society of Nephrology (01-09-2018)“…Congenital anomalies of the kidney and urinary tract (CAKUT) are the most prevalent cause of kidney disease in the first three decades of life. Previous gene…”
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5
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome
Published in The Journal of clinical investigation (01-10-2018)“…Steroid-resistant nephrotic syndrome (SRNS) almost invariably progresses to end-stage renal disease. Although more than 50 monogenic causes of SRNS have been…”
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6
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling
Published in The Journal of clinical investigation (01-08-2013)“…Nephrotic syndrome (NS) is divided into steroid-sensitive (SSNS) and -resistant (SRNS) variants. SRNS causes end-stage kidney disease, which cannot be cured…”
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Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis
Published in Kidney international (01-03-2020)“…Distal renal tubular acidosis is a rare renal tubular disorder characterized by hyperchloremic metabolic acidosis and impaired urinary acidification. Mutations…”
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Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2 years of life
Published in Acta Paediatrica (01-06-2023)“…Aim The earlier the onset of proteinuria, the higher the incidence of genetic forms. Therefore, we aimed to analyse the spectrum of monogenic proteinuria in…”
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Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression
Published in Scientific reports (14-09-2021)“…Mutation of the Cys1 gene underlies the renal cystic disease in the Cys1 cpk/cpk ( cpk ) mouse that phenocopies human autosomal recessive polycystic kidney…”
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10
Lupus nephritis: correlation of immunohistochemical expression of C4d, CD163-positive M2c-like macrophages and Foxp3-expressing regulatory T cells with disease activity and chronicity
Published in Lupus (01-07-2020)“…Background C4d, which is a serum complement cleavage product of the activated complement component C4, was found to be an accurate indicator of lupus activity…”
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11
Effect of different surface treatments on resin-matrix CAD/CAM ceramics bonding to dentin: in vitro study
Published in BMC oral health (23-12-2022)“…Evaluating the effect of different surface treatment methods on the micro-tensile bond strength (µTBS) of two different resin-matrix computer-aided…”
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12
Exome Sequencing Reveals Cubilin Mutation as a Single-Gene Cause of Proteinuria
Published in Journal of the American Society of Nephrology (01-10-2011)“…In two siblings of consanguineous parents with intermittent nephrotic-range proteinuria, we identified a homozygous deleterious frameshift mutation in the gene…”
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13
Identifying distinct phenotypes of patients with juvenile systemic lupus erythematosus: results from a cluster analysis by the Egyptian college of rheumatology (ECR) study group
Published in BMC pediatrics (25-10-2024)“…Juvenile systemic lupus erythematosus (J-SLE) is a complex, heterogeneous disease affecting multiple organs. However, the classification of its subgroups is…”
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14
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT
Published in Genetics in medicine (01-02-2022)“…Congenital anomalies of the kidneys and urinary tract (CAKUT) constitute the leading cause of chronic kidney disease in children. In total, 174 monogenic…”
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OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis
Published in Genetics in medicine (01-03-2023)“…Nephrolithiasis (NL) affects 1 in 11 individuals worldwide, leading to significant patient morbidity. NL is associated with nephrocalcinosis (NC), a risk…”
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Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies
Published in Kidney international (01-04-2014)“…Rare single-gene disorders cause chronic disease. However, half of the 6000 recessive single gene causes of disease are still unknown. Because recessive…”
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Systemic lupus erythematosus children in Egypt: Homeland spectrum amid the global situation
Published in Lupus (01-11-2021)“…Objectives This study aims to present the manifestations of juvenile systemic lupus erythematosus (JSLE) across Egypt, to focus on age at onset and…”
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IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype
Published in Journal of medical genetics (01-10-2015)“…Bidirectional intraflagellar transport (IFT) consists of two major protein complexes, IFT-A and IFT-B. In contrast to the IFT-B complex, all components of…”
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Blood lead levels in a group of children: the potential risk factors and health problems
Published in Jornal de pediatria (01-11-2017)“…To investigate blood lead levels in schoolchildren in two areas of Egypt to understand the current lead pollution exposure and its risk factors, aiming to…”
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Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract
Published in European urology open science (Online) (01-10-2022)“…Pathogenic copy number variants (CNVs) could explain congenital anomalies of the kidney and urinary tract (CAKUT) in 5.29% of the families in our cohort,…”
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