Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies
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Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingDefects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humansOf mice and men: molecular genetics of congenital heart diseasePathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesisMutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent NephronophthisisNPHP4 variants are associated with pleiotropic heart malformations.A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8Juvenile nephronophthisis and dysthyroidism: a rare associationMild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.Exploring the genetic basis of early-onset chronic kidney disease.A protocol for the identification and validation of novel genetic causes of kidney diseaseLarge-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathiesThe ciliary transition zone: from morphology and molecules to medicineCongenital anomalies of the kidney and urinary tract: a genetic disorder?IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.Cystic kidney diseases: many ways to form a cyst.Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.Current insights into renal ciliopathies: what can genetics teach us?ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.Cilia and coordination of signaling networks during heart development.Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.Genetic basis of human left-right asymmetry disorders.The expanding phenotypic spectra of kidney diseases: insights from genetic studies.High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients.Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype-phenotype relationship.Hepatorenal fibrocystic diseases in children.Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Løken syndrome.Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility.Nephronophthisis and retinal degeneration in tmem218-/- mice: a novel mouse model for Senior-Løken syndrome?Rare copy number variants in patients with congenital conotruncal heart defects.Early presentation of cystic kidneys in a family with a homozygousINVSmutationRenal-hepatic-pancreatic dysplasia: A sibship with skeletal and central nervous system anomalies andNPHP3mutation
P2860
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P2860
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies
description
2011 nî lūn-bûn
@nan
2011 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies
@ast
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies
@en
type
label
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies
@ast
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies
@en
prefLabel
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies
@ast
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies
@en
P2093
P2860
P356
P1433
P1476
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies
@en
P2093
Carsten Bergmann
Friedhelm Hildebrandt
Gokul Ramaswami
John R Heckenlively
Julia Hoefele
Moumita Chaki
Susan J Allen
P2860
P2888
P304
P356
10.1038/KI.2011.284
P407
P577
2011-08-24T00:00:00Z
P5875
P6179
1009959189