Bettina Mucha

Bettina Mucha

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Bettina Mucha

Bettina Mucha

Publications by authors named "Bettina Mucha"

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Variant BMP receptor mutations causing fibrodysplasia ossificans progressiva (FOP) in humans show BMP ligand-independent receptor activation in zebrafish.

Bone 2018 04 4;109:225-231. Epub 2018 Jan 4.

Department of Cell and Developmental Biology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2018.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5866198PMC
April 2018

Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome.

Pediatr Nephrol 2007 Apr 10;22(4):509-13. Epub 2007 Jan 10.

Department of Pediatrics, Division of Nephrology, Ann Arbor, MI 48109, USA.

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http://link.springer.com/10.1007/s00467-006-0377-y
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http://dx.doi.org/10.1007/s00467-006-0377-yDOI Listing
April 2007

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

Clin J Am Soc Nephrol 2007 Jan 25;2(1):31-7. Epub 2006 Oct 25.

Division of Nephrology, Toronto General Hospital, University Health Network and University of Toronto, Toronto, Ontario, Canada.

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http://cjasn.asnjournals.org/cgi/doi/10.2215/CJN.02690806
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http://dx.doi.org/10.2215/CJN.02690806DOI Listing
January 2007

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

Hum Genet 2006 Jul 26;119(6):649-58. Epub 2006 Apr 26.

Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109-0646, USA, and University Children's Hospital, Freiburg University, Germany.

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http://dx.doi.org/10.1007/s00439-006-0176-3DOI Listing
July 2006

Hypergonadotropic hypogonadism and renal failure due to WT1 mutation.

Nephrol Dial Transplant 2006 Jun 13;21(6):1716-8. Epub 2006 Feb 13.

Klinik für Kinder und Jugendliche, Friedrich-Alexander-Universität Erlangen-Nürnberg, Loschgestrasse 15, 91054 Erlangen, Germany.

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http://dx.doi.org/10.1093/ndt/gfl023DOI Listing
June 2006

No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations.

Pediatr Nephrol 2004 Dec;19(12):1340-8

Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1007/s00467-004-1629-3DOI Listing
December 2004