Bergmann C - Search Results

1

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

Bergmann C, von Bothmer J, Ortiz Brüchle N, Venghaus A, Frank V, Fehrenbach H, Hampel T, Pape L, Buske A, Jonsson J, Sarioglu N, Santos A, Ferreira JC, Becker JU, Cremer R, Hoefele J, Benz MR, Weber LT, Buettner R, Zerres K. Bergmann C, et al. J Am Soc Nephrol. 2011 Nov;22(11):2047-56. doi: 10.1681/ASN.2010101080. Epub 2011 Oct 27. J Am Soc Nephrol. 2011. PMID: 22034641 Free PMC article.

2

Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene.

Onuchic LF, Mrug M, Hou X, Eggermann T, Bergmann C, Zerres K, Avner ED, Furu L, Somlo S, Nagasawa Y, Germino GG, Guay-Woodford LM. Onuchic LF, et al. Among authors: bergmann c. Am J Med Genet. 2002 Jul 15;110(4):346-52. doi: 10.1002/ajmg.10468. Am J Med Genet. 2002. PMID: 12116208

3

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: bergmann c. 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

4

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. 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

5

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. Among authors: bergmann c. Hum Mol Genet. 2003 Feb 1;12(3):349-56. doi: 10.1093/hmg/ddg030. Hum Mol Genet. 2003. PMID: 12554688

6

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. Among authors: bergmann c. Brain. 2003 Mar;126(Pt 3):642-9. doi: 10.1093/brain/awg068. Brain. 2003. PMID: 12566285

7

Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.

Hanemann CO, Bergmann C, Senderek J, Zerres K, Sperfeld AD. Hanemann CO, et al. Among authors: bergmann c. Arch Neurol. 2003 Apr;60(4):605-9. doi: 10.1001/archneur.60.4.605. Arch Neurol. 2003. PMID: 12707076

8

Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia.

Bergmann C, Zerres K, Senderek J, Rudnik-Schoneborn S, Eggermann T, Häusler M, Mull M, Ramaekers VT. Bergmann C, et al. Brain. 2003 Jul;126(Pt 7):1537-44. doi: 10.1093/brain/awg173. Epub 2003 May 21. Brain. 2003. PMID: 12805098 Review.

9

Autosomal recessive polycystic kidney disease (ARPKD).

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

10

Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.

Furu L, Onuchic LF, Gharavi A, Hou X, Esquivel EL, Nagasawa Y, Bergmann C, Senderek J, Avner E, Zerres K, Germino GG, Guay-Woodford LM, Somlo S. Furu L, et al. Among authors: bergmann c. J Am Soc Nephrol. 2003 Aug;14(8):2004-14. doi: 10.1097/01.asn.0000078805.87038.05. J Am Soc Nephrol. 2003. PMID: 12874454

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