Results 211 to 220 of about 8,333 (256)
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The American Journal of Medicine, 1980
Twenty-one patients with nephronophthisis are described with a follow-up of one to 16 years (mean 9.3 years). In 10 patients, there was a familial incidence. Autosomal recessive appears the likely mode of inheritance with a 20 per cent incidence noted (seven of 35) following correction for the bias of ascertainment by removing the probands.
B T, Steele, D S, Lirenman, C W, Beattie
+6 more sources
Twenty-one patients with nephronophthisis are described with a follow-up of one to 16 years (mean 9.3 years). In 10 patients, there was a familial incidence. Autosomal recessive appears the likely mode of inheritance with a 20 per cent incidence noted (seven of 35) following correction for the bias of ascertainment by removing the probands.
B T, Steele, D S, Lirenman, C W, Beattie
+6 more sources
Current Opinion in Genetics & Development, 2005
There has been tremendous progress in the past few years in understanding the molecular basis of nephronophthisis, and it is now evident that the disease is characterized by both clinical and genetic heterogeneity. Within the three different clinical forms there is a large spectrum of phenotypes, which have been associated, to date, with five gene ...
Sophie, Saunier +2 more
openaire +2 more sources
There has been tremendous progress in the past few years in understanding the molecular basis of nephronophthisis, and it is now evident that the disease is characterized by both clinical and genetic heterogeneity. Within the three different clinical forms there is a large spectrum of phenotypes, which have been associated, to date, with five gene ...
Sophie, Saunier +2 more
openaire +2 more sources
Journal of Pediatric Genetics, 2013
Nephronophthisis (NPHP) is a childhood cystic kidney disease, which almost invariably leads to end-stage renal disease in those affected. Recognition and diagnosis requires clinical suspicion, biochemical evaluation, renal imaging and historically, renal biopsy.
Shalabh, Srivastava, John A, Sayer
openaire +3 more sources
Nephronophthisis (NPHP) is a childhood cystic kidney disease, which almost invariably leads to end-stage renal disease in those affected. Recognition and diagnosis requires clinical suspicion, biochemical evaluation, renal imaging and historically, renal biopsy.
Shalabh, Srivastava, John A, Sayer
openaire +3 more sources
La Clinica pediatrica, 2023
Homozygous deletion of NPHP1 can lead to isolated nephronophthisis (NPHP) and syndromic disorders. However, the phenotype of scalp tumor and hydroureteronephrosis in NPHP patients with homozygous deletion of NPHP1 has not been reported.
H. Tong +5 more
semanticscholar +1 more source
Homozygous deletion of NPHP1 can lead to isolated nephronophthisis (NPHP) and syndromic disorders. However, the phenotype of scalp tumor and hydroureteronephrosis in NPHP patients with homozygous deletion of NPHP1 has not been reported.
H. Tong +5 more
semanticscholar +1 more source
Irish Journal of Medical Science, 1981
The clinical histories and laboratory investigations of 5 patients with juvenile nephronophthisis from 3 kindreds are described. Special emphasis is made on renal function replacement, especially transplantation, in which the original disease has not recurred.
J F, Walker +4 more
openaire +2 more sources
The clinical histories and laboratory investigations of 5 patients with juvenile nephronophthisis from 3 kindreds are described. Special emphasis is made on renal function replacement, especially transplantation, in which the original disease has not recurred.
J F, Walker +4 more
openaire +2 more sources
Co-Occurrence of Nephronophthisis Type 1 and Alström Syndrome: A Case Report
Nephron, 2023We describe the unique case of a patient in whom two ciliopathies with autosomal recessive transmission were clinically and molecularly diagnosed: nephronophthisis type 1 (NPHP1) and Alström syndrome (AS).
Lisa Rossoni +7 more
semanticscholar +1 more source
Clinical Genetics, 2023
The ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6) gene, encoding an inversin compartment protein of the primary cilium, was recently reported as a pathogenic gene of nephronophthisis (MIM PS256100).
Keqiang Liu +7 more
semanticscholar +1 more source
The ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6) gene, encoding an inversin compartment protein of the primary cilium, was recently reported as a pathogenic gene of nephronophthisis (MIM PS256100).
Keqiang Liu +7 more
semanticscholar +1 more source
Nephron, 2023
Nephronophthisis is an autosomal recessive cystic kidney disease characterized by tubular injury and commonly results in kidney failure. We reported a case of 4-year-old Chinese boy presented with severe anemia, kidney, and liver dysfunction. Whole exome
Xinjie Zhang +6 more
semanticscholar +1 more source
Nephronophthisis is an autosomal recessive cystic kidney disease characterized by tubular injury and commonly results in kidney failure. We reported a case of 4-year-old Chinese boy presented with severe anemia, kidney, and liver dysfunction. Whole exome
Xinjie Zhang +6 more
semanticscholar +1 more source
2018
Nephronophthisis (NPHP) is a clinically heterogeneous autosomal recessive cystic kidney disease and the leading genetic cause of end-stage renal failure in children and young adults. Whilst enlarged dysplastic cystic kidneys are associated with infantile NPHP, more typically renal ultrasound reveals normal kidney size and corticomedullary cysts in a ...
John A. Sayer, Roslyn J. Simms
openaire +1 more source
Nephronophthisis (NPHP) is a clinically heterogeneous autosomal recessive cystic kidney disease and the leading genetic cause of end-stage renal failure in children and young adults. Whilst enlarged dysplastic cystic kidneys are associated with infantile NPHP, more typically renal ultrasound reveals normal kidney size and corticomedullary cysts in a ...
John A. Sayer, Roslyn J. Simms
openaire +1 more source
Human Molecular Genetics, 2021
Nephronophthisis (NPH) is the most prevalent monogenetic disorder leading to end-stage renal failure (ESRD) in childhood. Mutations in Nphp1, encoding a cilia-localized protein, account for the majority of NPH cases. Despite its identification many years
Dantong Li +11 more
semanticscholar +1 more source
Nephronophthisis (NPH) is the most prevalent monogenetic disorder leading to end-stage renal failure (ESRD) in childhood. Mutations in Nphp1, encoding a cilia-localized protein, account for the majority of NPH cases. Despite its identification many years
Dantong Li +11 more
semanticscholar +1 more source