UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 35

Sortiert nach

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Pediatric nephrology (Berlin, West), 2014-04, Vol.29 (4), p.695-704

2014

Link zum Volltext

Verfügbarkeit prüfen

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

Kidney international, 2014-06, Vol.85 (6), p.1429-1433

2014

Link zum Volltext

Verfügbarkeit prüfen

Currarino syndrome: a comprehensive genetic review of a rare congenital disorder

Orphanet journal of rare diseases, 2021-04, Vol.16 (1), p.167-167, Article 167

2021

Link zum Volltext

Verfügbarkeit prüfen

Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance

Orphanet journal of rare diseases, 2017-12, Vol.12 (1), p.180-180, Article 180

2017

Link zum Volltext

Verfügbarkeit prüfen

Modelling human lower urinary tract malformations in zebrafish

Molecular and cellular pediatrics, 2023-03, Vol.10 (1), p.2-2, Article 2

2023

Link zum Volltext

Verfügbarkeit prüfen

Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation

Biomolecules (Basel, Switzerland), 2023-07, Vol.13 (7), p.1117

2023

Link zum Volltext

Verfügbarkeit prüfen

The Role of De Novo Variants in Formation of Human Anorectal Malformations

Genes, 2021-08, Vol.12 (9), p.1298

2021

Link zum Volltext

Verfügbarkeit prüfen

An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome

International journal of molecular medicine, 2013-07, Vol.32 (1), p.174-178

2013

Link zum Volltext

Verfügbarkeit prüfen

Increased psychosocial risk, depression and reduced quality of life living with autosomal dominant polycystic kidney disease

Nephrology, dialysis, transplantation, 2016-07, Vol.31 (7), p.1130-1140

2016

Link zum Volltext

Verfügbarkeit prüfen

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

Journal of the American Society of Nephrology, 2014-09, Vol.25 (9), p.1917-1922

2014

Link zum Volltext

Verfügbarkeit prüfen

De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia

Frontiers in pediatrics, 2018-04, Vol.6, p.116

2018

Link zum Volltext

Verfügbarkeit prüfen

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Genetics in medicine, 2021-09, Vol.23 (9), p.1715-1725

2021

Link zum Volltext

Verfügbarkeit prüfen

Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

Kidney international, 2014-06, Vol.85 (6), p.1310-1317

2014

Link zum Volltext

Verfügbarkeit prüfen

Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association

Human mutation, 2015-12, Vol.36 (12), p.1150-1154

2015

Link zum Volltext

Verfügbarkeit prüfen

Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3784-3792

2021

Link zum Volltext

Verfügbarkeit prüfen

Expanding the knowledge on development of CAKUT: molecular genetics and beyond

Annals of translational medicine, 2019-10, Vol.7 (20), p.596-596

2019

Link zum Volltext

Verfügbarkeit prüfen

Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract

Nephrology, dialysis, transplantation, 2016-08, Vol.31 (8), p.1280-1283

2016

Link zum Volltext

Verfügbarkeit prüfen

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

European journal of human genetics : EJHG, 2013-12, Vol.21 (12), p.1377-1382

2013

Link zum Volltext

Verfügbarkeit prüfen

Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities

Birth defects research. A Clinical and molecular teratology, 2015-04, Vol.103 (4), p.235-242

2015

Link zum Volltext

Verfügbarkeit prüfen

De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations

American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.3035-3041

2013

Link zum Volltext

Verfügbarkeit prüfen

Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies

Birth defects research. A Clinical and molecular teratology, 2014-10, Vol.100 (10), p.750-759

2014

Link zum Volltext

Verfügbarkeit prüfen

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

Journal of the American Society of Nephrology, 2014-09, Vol.25 (9), p.1917-1922

2014

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 35

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(33)
Mit Volltextzugriff
(33)

Publikationsform

Artikel
(34)
Berichte
(1)

Sprache

Englisch
(35)
Japanisch
(5)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

Currarino syndrome: a comprehensive genetic review of a rare congenital disorder

Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract

Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance

Modelling human lower urinary tract malformations in zebrafish

Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation

The Role of De Novo Variants in Formation of Human Anorectal Malformations

An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome

Increased psychosocial risk, depression and reduced quality of life living with autosomal dominant polycystic kidney disease

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

X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems

De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations

Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association

Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes

Expanding the knowledge on development of CAKUT: molecular genetics and beyond

Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities

De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations

Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies

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

Suchergebnisse filtern