Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort.
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Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1? in human pancreatic developmentIntegrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humansTwo mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasiaHNF-1beta regulates transcription of the PKD modifier gene Kif12Maturity-Onset Diabetes of the Young: What Do Clinicians Need to Know?Lower urinary tract development and diseaseNoninvasive assessment of antenatal hydronephrosis in mice reveals a critical role for Robo2 in maintaining anti-reflux mechanismHuman mutations affect the epigenetic/bookmarking function of HNF1BA mitotic transcriptional switch in polycystic kidney diseaseTCF7L2 polymorphism associates with new-onset diabetes after transplantation.Unilateral hypoplastic kidney - a novel highly penetrant feature of familial juvenile hyperuricaemic nephropathy.Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24.Renal malformations associated with mutations of developmental genes: messages from the clinic.Lim1, an embryonal transcription factor, is absent in multicystic renal dysplasia, but reactivated in nephroblastomas.Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.A retrotransposon insertion in the 5' regulatory domain of Ptf1a results in ectopic gene expression and multiple congenital defects in Danforth's short tail mouse.HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.Identification and Functional Characterization of P159L Mutation in HNF1B in a Family with Maturity-Onset Diabetes of the Young 5 (MODY5)HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutationsClinical features and treatment of maturity onset diabetes of the young (MODY).Congenital anomalies of the kidney and urinary tract: a genetic disorder?Copy-number disorders are a common cause of congenital kidney malformationsRecurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.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.Investigating maturity onset diabetes of the young.The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1.Identifying and mapping cell-type-specific chromatin programming of gene expression.Genetics of congenital anomalies of the kidney and urinary tract.Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.HNF1B-associated clinical phenotypes: the kidney and beyond.Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature.Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.
P2860
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P2860
Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Renal phenotypes related to he ...... tations in a pediatric cohort.
@en
Renal phenotypes related to hepatocyte nuclear factor-1beta
@nl
type
label
Renal phenotypes related to he ...... tations in a pediatric cohort.
@en
Renal phenotypes related to hepatocyte nuclear factor-1beta
@nl
prefLabel
Renal phenotypes related to he ...... tations in a pediatric cohort.
@en
Renal phenotypes related to hepatocyte nuclear factor-1beta
@nl
P2093
P356
P1476
Renal phenotypes related to he ...... tations in a pediatric cohort.
@en
P2093
Albert Bensman
Denis Morin
François Bouissou
Georges Deschênes
Sandra Lescure
Sandrine Beaufils
Stéphane Decramer
Séverine Clauin
Tim Ulinski
P304
P356
10.1681/ASN.2005101040
P577
2005-12-21T00:00:00Z