Severe Prenatal Renal Anomalies Associated with Mutations inHNF1BorPAX2Genes (original) (raw)
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract
Heiko Reutter, P. Saisawat, Elijah Kehinde, Radovan Bogdanovic, Neveen Soliman, V. Tasic
Kidney International, 2014
View PDFchevron_right
Congenital anomalies of the kidney and urinary tract: An embryogenetic review
Augusto Cesar Soares dos Santos Junior
Birth Defects Research Part C: Embryo Today: Reviews, 2014
View PDFchevron_right
Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred
E. Edghill
Nephrology Dialysis Transplantation, 2006
View PDFchevron_right
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis
Philippe Campeau
View PDFchevron_right
Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family
Wesam Kurdi
Clinical Kidney Journal, 2016
View PDFchevron_right
Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24
Julia Hoefele
Nephrology Dialysis Transplantation, 2010
View PDFchevron_right
Post-mortem examination of prenatally diagnosed fatal renal malformation
Shubha Phadke
Journal of Perinatology, 2008
View PDFchevron_right
Genetics of congenital anomalies of the kidney and urinary tract
Giovanni Montini
Pediatric Nephrology, 2011
View PDFchevron_right
Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT
Nayia Nicolaou
Kidney International, 2016
View PDFchevron_right
Congenital Renal and Urinary Tract Anomalies in Selected Neonates
Anshuman Singh
Journal of Evidence Based Medicine and Healthcare, 2016
View PDFchevron_right
Genetic Analysis in Pregnancy with Fetal Pathologic Ultrasound Findings
Selda Şimşek
Biotechnology & Biotechnological Equipment, 2013
View PDFchevron_right
A Five–Year Review of Cases Referred to the Genetics Clinic, PGH for Findings of Congenital Anomalies on Prenatal Ultrasound
Zul fikar
Acta Medica Philippina, 2009
View PDFchevron_right
Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases
Madeleine Joubert
Prenatal Diagnosis, 2016
View PDFchevron_right
Mild Recessive Mutations in Six Fraser Syndrome-Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract
Natasa Stajic
Journal of the American Society of Nephrology, 2014
View PDFchevron_right
A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability
Ida Vogel
American Journal of Medical Genetics Part A, 2013
View PDFchevron_right
In utero nephropathy, Denys-Drash syndrome and Potter phenotype
Neena Modi
Pediatric Nephrology, 1998
View PDFchevron_right
Evaluation the Prevalence of association between cranial congenital fetal anomalies and renal congenital fetal anomalies
Saad El Gelany
Minia Journal of Medical Research, 2022
View PDFchevron_right
A correlative study of prenatal ultrasound and post-mortem findings in fetuses and infants with an abnormal karyotype
Christina Isaksen
Ultrasound in Obstetrics and Gynecology, 2000
View PDFchevron_right
Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis
Arie Smits
Journal of Medical Genetics, 2010
View PDFchevron_right
Antenatal Diagnosis of Renal and Excretory Tract Abnormalities: A Report of 36 Cases and Review of the Literature
Imane Attar
Scholars International Journal of Obstetrics and Gynecology
View PDFchevron_right
Association of congenital anomalies of the kidney and urinary tract with those of other organ systems: Clinical implications
Amin J . Barakat
2020
View PDFchevron_right
Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs
Diane Van Opstal
European Journal of Human Genetics, 2015
View PDFchevron_right
The Utility of Antenatal Ultrasound in intrauterine Early Diagnosis of an Autosomal recessive Polycystic Kidney Disease in Fetus
Cristina-Crenguta Albu
International Journal of Medical Research and Review
View PDFchevron_right
Prenatal Detection of Congenital Renal Malformations by Fetal Ultrasonographic Examination: An Analysis of 709,030 Births in 12 European Countries
Awi Wiesel
PubMed, 2005
View PDFchevron_right