Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. - Wikidata - wikimedia - TriplyDB

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.

http://www.wikidata.org/entity/Q33888369

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Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans Human mutations affect the epigenetic/bookmarking function of HNF1B Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy.Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.Renal malformations associated with mutations of developmental genes: messages from the clinic.Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update Cystic kidney diseases: many ways to form a cyst.Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes.Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.Zyxin regulates migration of renal epithelial cells through activation of hepatocyte nuclear factor-1β Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.Proteomic urinary biomarker approach in renal disease: from discovery to implementation.Inherited disorders of renal hypomagnesaemia.HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.Diabetes mellitus, a complex and heterogeneous disease, and the role of insulin resistance as a determinant of diabetic kidney disease.HNF1B-associated clinical phenotypes: the kidney and beyond.Genetic, environmental, and epigenetic factors involved in CAKUT.Loss of transcriptional activation of the potassium channel Kir5.1 by HNF1β drives autosomal dominant tubulointerstitial kidney disease.Renal dysplasia in the neonate Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes.Developmental Genetics and Congenital Anomalies of the Kidney and Urinary Tract.The expanding phenotypic spectra of kidney diseases: insights from genetic studies.The contribution of branching morphogenesis to kidney development and disease.Genetic Syndromes Affecting Kidney Development.Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome.21-Year-Old Pregnant Woman with MODY-5 Diabetes.Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation.Genetic basis of human congenital anomalies of the kidney and urinary tract.HNF1B controls epithelial organization and cell polarity during ureteric bud branching and collecting duct morphogenesis.A questionnaire survey of radiological diagnosis and management of renal dysplasia in children.Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract.Hepatocyte Nuclear Factor-1β Regulates Urinary Concentration and Response to Hypertonicity.Maturity onset diabetes of the young: clinical characteristics and outcome after kidney and pancreas transplantation in MODY3 and RCAD patients: a single center experience.

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P2860

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.

http://www.wikidata.org/entity/Q33888369

description

2010 nî lūn-bûn

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2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2010 թվականի ապրիլին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.

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Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.

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type

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Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.

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Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.

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Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.

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Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.

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Clinical Journal of the American Society of Nephrology

P1476

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.

@en

P2093

Anne-Sophie Lebre

http://www.w3.org/2001/XMLSchema#string

Audrey Pawtowski

http://www.w3.org/2001/XMLSchema#string

Bertrand Knebelmann

http://www.w3.org/2001/XMLSchema#string

Flavio Bandin

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Rémi Salomon

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Stanislas Faguer

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Stéphane Decramer

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P2860

Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations

HNF-1beta regulates transcription of the PKD modifier gene Kif12

Variant hepatocyte nuclear factor 1 is required for visceral endoderm specification

Prediction of deleterious human alleles

Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

TCF2 gene mutation leads to nephro-urological defects of unequal severity: an open question.

Regulation of tissue-specific expression of the human and mouse urate transporter 1 gene by hepatocyte nuclear factor 1 alpha/beta and DNA methylation.

A transcriptional network in polycystic kidney disease.

Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.

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10.2215/CJN.06810909

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6

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5

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Corinne Antignac

Vincent Guigonis

Vincent Morinière

Laurence Heidet

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2010-04-08T00:00:00Z

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20378641

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2879303

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