Bergmann C - Search Results

1

Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.

Lu H, Galeano MCR, Ott E, Kaeslin G, Kausalya PJ, Kramer C, Ortiz-Brüchle N, Hilger N, Metzis V, Hiersche M, Tay SY, Tunningley R, Vij S, Courtney AD, Whittle B, Wühl E, Vester U, Hartleben B, Neuber S, Frank V, Little MH, Epting D, Papathanasiou P, Perkins AC, Wright GD, Hunziker W, Gee HY, Otto EA, Zerres K, Hildebrandt F, Roy S, Wicking C, Bergmann C. Lu H, et al. Among authors: bergmann c. Nat Genet. 2017 Jul;49(7):1025-1034. doi: 10.1038/ng.3871. Epub 2017 May 22. Nat Genet. 2017. PMID: 28530676 Free PMC article.

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. 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

A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa.

Ramaekers VT, Senderek J, Häusler M, Häring M, Abeling N, Zerres K, Bergmann C, Heimann G, Blau N. Ramaekers VT, et al. Among authors: bergmann c. Mol Genet Metab. 2001 Jun;73(2):179-87. doi: 10.1006/mgme.2001.3187. Mol Genet Metab. 2001. PMID: 11386854 Clinical Trial.

4

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: bergmann c. 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.

5

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

6

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

7

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. 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.

8

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

9

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

10

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

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