HNF1B-associated renal and extra-renal disease—an expanding clinical spectrum

Mild Recessive Mutations in Six Fraser Syndrome-Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract

(2014) S. Kohl et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

The HNF1B score is a simple tool to select patients for HNF1B gene analysis

(2014) Stanislas Faguer et al.   KIDNEY INTERNATIONAL

Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes

(2013) L. Madariaga et al.   Clinical Journal of the American Society of Nephrology

Hepatocyte nuclear factor 1  controls nephron tubular development

(2013) F. Massa et al.   DEVELOPMENT

Exocrine pancreatic function in hepatocyte nuclear factor 1β-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas

(2013) E. Tjora et al.   DIABETIC MEDICINE

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing

(2013) S. Ellard et al.   DIABETOLOGIA

Early Development of Hyperparathyroidism Due to Loss ofPTHTranscriptional Repression in Patients With HNF1β Mutations?

(2013) Silvia Ferrè et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia

(2013) Delphine Body-Bechou et al.   PRENATAL DIAGNOSIS

HNF1Bdeletions in patients with young-onset diabetes but no known renal disease

(2012) E. L. Edghill et al.   DIABETIC MEDICINE

HNF1Bdeficiency causes ciliary defects in human cholangiocytes

(2012) Philip Roelandt et al.   HEPATOLOGY

Expression of Renal Cystic Genes in Patients with HNF1B Mutations

(2012) Stanislas Faguer et al.   NEPHRON CLINICAL PRACTICE

Ultrasound mass screening for congenital anomalies of the kidney and urinary tract

(2012) Vito Antonio Caiulo et al.   PEDIATRIC NEPHROLOGY

Maturity onset diabetes of the young: clinical characteristics and outcome after kidney and pancreas transplantation in MODY3 and RCAD patients: a single center experience

(2012) Caroline Poitou et al.   TRANSPLANT INTERNATIONAL

Genetic Basis of Prune Belly Syndrome: Screening for HNF1β Gene

(2011) Candace F. Granberg et al.   JOURNAL OF UROLOGY

Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood

(2011) Stanislas Faguer et al.   KIDNEY INTERNATIONAL

Genome-wide association study identifies a common variant associated with risk of endometrial cancer

(2011) Amanda B Spurdle et al.   NATURE GENETICS

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort

(2011) Rosemary Thomas et al.   PEDIATRIC NEPHROLOGY

Successful Simultaneous Pancreas Kidney Transplantation in Maturity-Onset Diabetes of the Young Type 5

(2011) Jan Halbritter et al.   TRANSPLANTATION

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

(2010) Daniel Moreno-De-Luca et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations

(2010) Richard A. Oram et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Deletion of Hepatocyte Nuclear Factor-1-Beta in an Infant with Prune Belly Syndrome

(2010) Sina Haeri et al.   AMERICAN JOURNAL OF PERINATOLOGY

HNF-1B specifically regulates the transcription of the γa-subunit of the Na+/K+-ATPase

(2010) Silvia Ferrè et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases

(2010) L. Heidet et al.   Clinical Journal of the American Society of Nephrology

Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome

(2010) Susanne Ledig et al.   FERTILITY AND STERILITY

Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion

(2010) Chantal Loirat et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

HNF1B alterations associated with congenital anomalies of the kidney and urinary tract

(2010) Makiko Nakayama et al.   PEDIATRIC NEPHROLOGY

Renal cystic diseases in children: new concepts

(2010) Fred E. Avni et al.   PEDIATRIC RADIOLOGY

vHNF1 functions in distinct regulatory circuits to control ureteric bud branching and early nephrogenesis

(2009) Ludmilla Lokmane et al.   DEVELOPMENT

Advances in early kidney specification, development and patterning

(2009) G. R. Dressler   DEVELOPMENT

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

(2009) Sandesh Chakravarthy Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Expanded Clinical Spectrum in Hepatocyte Nuclear Factor 1B-Maturity-Onset Diabetes of the Young

(2009) Klemens Raile et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

HNF1B Mutations Associate with Hypomagnesemia and Renal Magnesium Wasting

(2009) S. Adalat et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

HNF1B-related diabetes triggered by renal transplantation

(2009) Julien Zuber et al.   Nature Reviews Nephrology

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

(2009) Laura Bernardini et al.   Orphanet Journal of Rare Diseases

Lack of pancreatic body and tail inHNF1Bmutation carriers

(2008) I. S. Haldorsen et al.   DIABETIC MEDICINE

Multiple loci identified in a genome-wide association study of prostate cancer

(2008) Gilles Thomas et al.   NATURE GENETICS

Evidence for two independent prostate cancer risk–associated loci in the HNF1B gene at 17q12

(2008) Jielin Sun et al.   NATURE GENETICS

Whole gene deletion of the hepatocyte nuclear factor-1  gene in a patient with the prune-belly syndrome

(2008) P. J. Murray et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Renal tract malformations: perspectives for nephrologists

(2008) Larissa Kerecuk et al.   Nature clinical practice. Nephrology