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Showing 1–4 of 4 results

Advanced filters: Author: Caroline M. Kolvenbach Clear advanced filters

The contribution of de novo coding mutations to meningomyelocele

Exome sequencing of 851 trios from more than 2,500 individuals finds 187 genes with de novo mutations that contribute to meningomyelocele (spina bifida) and highlights critical pathways required for neural tube closure.

Yoo-Jin Jiny Ha
Ashna Nisal
Joseph G. Gleeson
Research26 Mar 2025
Nature

Volume: 641, P: 419-426
Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type

Katharina Lemberg
Nils D. Mertens
Friedhelm Hildebrandt
ResearchOpen Access10 Jul 2024
Scientific Reports

Volume: 14, P: 1-9
The genetics and pathogenesis of CAKUT

Here, the authors provide an overview of genetic causes of CAKUT and their impact on signalling pathways during nephrogenesis. They also discuss the impact of a molecular genetic diagnosis on the clinical care and potentially the personalized treatment of patients with CAKUT.

Caroline M. Kolvenbach
Shirlee Shril
Friedhelm Hildebrandt
Reviews31 Jul 2023
Nature Reviews Nephrology

Volume: 19, P: 709-720
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)

Chen-Han Wilfred Wu
Nina Mann
Friedhelm Hildebrandt
Research01 Jun 2020
Genetics in Medicine

Volume: 22, P: 1673-1681