Senderek J - Search Results

1

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).

Bergmann C, Küpper F, Dornia C, Schneider F, Senderek J, Zerres K. Bergmann C, et al. Among authors: senderek j. Hum Mutat. 2005 Mar;25(3):225-31. doi: 10.1002/humu.20145. Hum Mutat. 2005. PMID: 15706593 Review.

2

A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany.

Bergmann C, Schröder JM, Rudnik-Schöneborn S, Zerres K, Senderek J. Bergmann C, et al. Among authors: senderek j. Brain Res Mol Brain Res. 2001 Mar 31;88(1-2):183-5. doi: 10.1016/s0169-328x(01)00040-7. Brain Res Mol Brain Res. 2001. PMID: 11295246

3

PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.

Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Rudnik-Schöneborn S, Mrug M, Sweeney W, Avner ED, Zerres K, Guay-Woodford LM, Somlo S, Germino GG. Onuchic LF, et al. Among authors: senderek j. Am J Hum Genet. 2002 May;70(5):1305-17. doi: 10.1086/340448. Epub 2002 Mar 15. Am J Hum Genet. 2002. PMID: 11898128 Free PMC article.

4

Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene.

Nagasawa Y, Matthiesen S, Onuchic LF, Hou X, Bergmann C, Esquivel E, Senderek J, Ren Z, Zeltner R, Furu L, Avner E, Moser M, Somlo S, Guay-Woodford L, Büttner R, Zerres K, Germino GG. Nagasawa Y, et al. Among authors: senderek j. J Am Soc Nephrol. 2002 Sep;13(9):2246-58. doi: 10.1097/01.asn.0000030392.19694.9d. J Am Soc Nephrol. 2002. PMID: 12191969

5

Allelic variants in the 5' non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX).

Bergmann C, Zerres K, Rudnik-Schöneborn S, Eggermann T, Schröder JM, Senderek J. Bergmann C, et al. Among authors: senderek j. J Med Genet. 2002 Sep;39(9):e58. doi: 10.1136/jmg.39.9.e58. J Med Genet. 2002. PMID: 12205128 Free PMC article. No abstract available.

6

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

Bergmann C, Senderek J, Sedlacek B, Pegiazoglou I, Puglia P, Eggermann T, Rudnik-Schöneborn S, Furu L, Onuchic LF, De Baca M, Germino GG, Guay-Woodford L, Somlo S, Moser M, Büttner R, Zerres K. Bergmann C, et al. Among authors: senderek j. J Am Soc Nephrol. 2003 Jan;14(1):76-89. doi: 10.1097/01.asn.0000039578.55705.6e. J Am Soc Nephrol. 2003. PMID: 12506140

7

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.

Senderek J, Bergmann C, Weber S, Ketelsen UP, Schorle H, Rudnik-Schöneborn S, Büttner R, Buchheim E, Zerres K. Senderek J, et al. Hum Mol Genet. 2003 Feb 1;12(3):349-56. doi: 10.1093/hmg/ddg030. Hum Mol Genet. 2003. PMID: 12554688

8

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.

Senderek J, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Züchner S, De Jonghe P, Rudnik-Schöneborn S, Zerres K, Schröder JM. Senderek J, et al. Brain. 2003 Mar;126(Pt 3):642-9. doi: 10.1093/brain/awg068. Brain. 2003. PMID: 12566285

9

A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease.

Züchner S, Sperfeld AD, Senderek J, Sellhaus B, Hanemann CO, Schröder JM. Züchner S, et al. Among authors: senderek j. Brain. 2003 Apr;126(Pt 4):920-7. doi: 10.1093/brain/awg074. Brain. 2003. PMID: 12615648

10

Autosomal recessive polycystic kidney disease (ARPKD).

Zerres K, Rudnik-Schöneborn S, Senderek J, Eggermann T, Bergmann C. Zerres K, et al. Among authors: senderek j. J Nephrol. 2003 May-Jun;16(3):453-8. J Nephrol. 2003. PMID: 12832752

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