|
Nephronophthisis 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
No mutation was detected in UMOD.Copy number variation analysis of the NPHP1 gene using the commercially available MLPA kit identified a recurrent large homozygous deletion encompassing all NPHP1 exons.
|
26037636 |
2016 |
|
Nephronophthisis 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Nephronophthisis 1 (NPHP1, MIM# 256100) is an autosomal recessive disorder that can be caused by defects of NPHP1; the gene maps within the human 2q13 region where low copy repeats (LCRs) are abundant.
|
26641089 |
2015 |
|
Nephronophthisis 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We present an 11-month-old girl with congenital ocular motor apraxia (COMA) and Joubert syndrome found to have a compound heterozygous mutation in the NPHP1 gene that is responsible for juvenile nephronophthisis type 1.
|
23683649 |
2013 |
|
Nephronophthisis 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience.
|
22982934 |
2012 |
|
Nephronophthisis 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience.
|
22982934 |
2012 |
|
Nephronophthisis 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In addition, NPHP1 deletions identical to those that cause juvenile nephronophthisis have been identified in a subset of patients with a mild form of cerebellar and brainstem anomaly.
|
17160906 |
2007 |
|
Nephronophthisis 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Type 1 nephronophthisis (NPHP) with homozygous deletions of nephrocystin [NPHP1, DEL] has been considered a pure renal disorder, but co-occurrence of extrarenal symptoms, mainly retinitis pigmentosa, is observed in a subset of patients.
|
16900087 |
2006 |
|
Nephronophthisis 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.
|
15689444 |
2005 |
|
Nephronophthisis 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
|
15138899 |
2004 |
|
Nephronophthisis 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two multiplex polymerase chain reaction sets using two and three polymorphic markers from the NPHP1 deletion region together with one positive control marker allowed four different diagnostic problems to be solved in one diagnostic setup: (1) detection of the classic homozygous deletion of NPH1, (2) detection of a rare smaller homozygous deletion of NPH1, (3) testing for a heterozygous deletion, and (4) potential exclusion of linkage to NPHP1.
|
11382680 |
2001 |
|
Nephronophthisis 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have identified by positional cloning the gene (NPHP1) for juvenile nephronophthisis (NPH1), as a first step towards understanding the pathogenesis of this disease group.
|
11261687 |
2001 |
|
Nephronophthisis 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
On the basis of identification of the gene (NPHP1) defective in NPH1 and the presence of homozygous deletions of NPHP1 in the majority of NPH1 patients, molecular genetic diagnosis for NPH1 is now possible.
|
11168925 |
2001 |
|
Nephronophthisis 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In order to evaluate whether there might be a fourth locus of isolated nephronophthisis, we studied eight NPH families without extrarenal disease manifestations and without linkage to the NPH1 locus (NPHP1) on chromosome 2q12-q13.
|
11274269 |
2001 |
|
Nephronophthisis 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.
|
10712196 |
2000 |
|
Nephronophthisis 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study we have characterized the deletion breakpoints in a family with juvenile nephronophthisis that bears a unique maternal deletion of the NPHP1 gene, which is not the result of an event of homologous recombination.
|
10980528 |
2000 |
|
Nephronophthisis 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis.
|
10839884 |
2000 |
|
Nephronophthisis 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis.
|
10839884 |
2000 |
|
Nephronophthisis 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci.
|
10511339 |
1999 |
|
Nephronophthisis 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
F329L polymorphism in the human PAX8 gene.
|
9382140 |
1997 |
|
Nephronophthisis 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
This contig assembly provides the basis for closer definition of the NPH1 critical region through identification of more narrow flanking markers and for the construction of a transcriptional map of the region towards isolation of the NPH1 gene.
|
8697815 |
1996 |
|
Nephronophthisis 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A gene (NPH1) responsible for approximately 90% of the purely renal form of familial juvenile nephronophthisis, a progressive tubulo-interstitial kidney disorder, maps to human chromosome 2.
|
8825638 |
1995 |
|
Nephronophthisis 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity.
|
7806215 |
1994 |
|
Nephronophthisis 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The role of bradykinin in endotoxic shock of intestinal origin.
|
266900 |
1977 |
|
Nephronophthisis 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Nephronophthisis 1
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|