Bettina E. Mucha

发表

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Peter Nürnberg, Thomas Gudermann, Dominik Seelow, 2006, Nature Genetics.

Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing

H. Hennies, F. Hildebrandt, M. Attanasio, 2006, Human Genetics.

Nephrotic Syndrome in the First Year of Life: Two Thirds of Cases Are Caused by Mutations in 4 Genes (NPHS1, NPHS2, WT1, and LAMB2)

F. Hildebrandt, C. Vlangos, B. Hinkes, 2007, Pediatrics.

Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome.

A. Bakkaloğlu, F. Hildebrandt, J. Haas, 2004, Kidney international.

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

J. Gécz, S. Sisodiya, E. Lemyre, 2018, Genetics in Medicine.

Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

A. Bakkaloğlu, A. Bagga, F. Hildebrandt, 2004, Journal of the American Society of Nephrology : JASN.

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.

Bethan E. Hoskins, A. Bakkaloğlu, F. Hildebrandt, 2006, Kidney international.

mut0 methylmalonic acidemia: Eleven novel mutations of the methylmalonyl CoA mutase including a deletion‐insertion mutation

E. R. Baumgartner, F. Hildebrandt, A. Fuchshuber, 2000, Human mutation.

Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.

N. Rahman, F. Hildebrandt, M. Attanasio, 2003, Kidney international.

Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis.

F. Hildebrandt, Y. Pei, N. He, 2006, Clinical journal of the American Society of Nephrology : CJASN.

Recessive NPHS 2 ( Podocin ) Mutations Are Rare in Adult-Onset Idiopathic Focal Segmental Glomerulosclerosis

F. Hildebrandt, Y. Pei, N. He, 2006 .

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

Nicolas A. Dumont, K. Kandaswamy, T. Strom, 2019, Genetics in Medicine.

Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.

F. Hildebrandt, S. Heeringa, C. Vlangos, 2008, Journal of the American Society of Nephrology : JASN.

Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly

Philippe P Roux, R. Joober, G. Rouleau, 2013, Journal of Medical Genetics.

Mutations in the Wilms' Tumor 1 Gene Cause Isolated Steroid Resistant Nephrotic Syndrome and Occur in Exons 8 and 9

F. Hildebrandt, B. Hoskins, B. Hinkes, 2006, Pediatric Research.