A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta.
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Mayer-Rokitansky-Küster-Hauser (MRKH) syndromeHepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1? in human pancreatic developmentSevere pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutationsHNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitmentMutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney diseaseThe Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina)--phenotypic manifestations and genetic approachesSingle-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humansThe genetic basis of female reproductive disorders: etiology and clinical testingMayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findingsA mitotic transcriptional switch in polycystic kidney diseaseMany faces of monogenic diabetesMutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.Copy-number variation analysis in familial nonsyndromic congenital anomalies of the kidney and urinary tract: Evidence for the causative role of a transposable element-associated genomic rearrangement.Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.Lack of TCF2/vHNF1 in mice leads to pancreas agenesisChanges in mouse uterine transcriptome in estrus and proestrus.Genetic epidemiology of diabetes.Molecular genetics of Müllerian duct formation, regression and differentiationThe life of the human kidney before birth: its secrets unfold.Renal malformations associated with mutations of developmental genes: messages from the clinic.Exome sequencing and genetic testing for MODY.Exploring the genetic basis of early-onset chronic kidney disease.HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy.Identification and Functional Characterization of P159L Mutation in HNF1B in a Family with Maturity-Onset Diabetes of the Young 5 (MODY5)Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature reviewHepatocyte nuclear factor-1β: A regulator of kidney development and cystogenesisHyperinsulinism in infancy: from basic science to clinical disease.HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.The mutated human gene encoding hepatocyte nuclear factor 1beta inhibits kidney formation in developing Xenopus embryosHigh incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasiaCongenital anomalies of the kidney and urinary tract: a genetic disorder?Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literatureMutations of HNF-1beta inhibit epithelial morphogenesis through dysregulation of SOCS-3.HNF1 regulates critical processes in the human epididymis epitheliumMolecular diagnosis of maturity onset diabetes of the young in India.Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3.
P2860
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P2860
A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta.
description
1999 nî lūn-bûn
@nan
1999 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
A novel syndrome of diabetes m ...... patocyte nuclear factor-1beta.
@ast
A novel syndrome of diabetes m ...... patocyte nuclear factor-1beta.
@en
type
label
A novel syndrome of diabetes m ...... patocyte nuclear factor-1beta.
@ast
A novel syndrome of diabetes m ...... patocyte nuclear factor-1beta.
@en
prefLabel
A novel syndrome of diabetes m ...... patocyte nuclear factor-1beta.
@ast
A novel syndrome of diabetes m ...... patocyte nuclear factor-1beta.
@en
P2093
P356
P1476
A novel syndrome of diabetes m ...... patocyte nuclear factor-1beta.
@en
P2093
P304
P356
10.1093/HMG/8.11.2001
P577
1999-10-01T00:00:00Z