Bergmann C - Search Results

1

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.

Frank V, den Hollander AI, Brüchle NO, Zonneveld MN, Nürnberg G, Becker C, Du Bois G, Kendziorra H, Roosing S, Senderek J, Nürnberg P, Cremers FP, Zerres K, Bergmann C. Frank V, et al. Among authors: bergmann c. Hum Mutat. 2008 Jan;29(1):45-52. doi: 10.1002/humu.20614. Hum Mutat. 2008. PMID: 17705300

2

X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).

Senderek J, Bergmann C, Quasthoff S, Ramaekers VT, Schröder JM. Senderek J, et al. Among authors: bergmann c. Acta Neuropathol. 1998 May;95(5):443-9. doi: 10.1007/s004010050823. Acta Neuropathol. 1998. PMID: 9600589

3

X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).

Senderek J, Hermanns B, Bergmann C, Boroojerdi B, Bajbouj M, Hungs M, Ramaekers VT, Quasthoff S, Karch D, Schröder JM. Senderek J, et al. Among authors: bergmann c. J Neurol Sci. 1999 Aug 15;167(2):90-101. doi: 10.1016/s0022-510x(99)00146-x. J Neurol Sci. 1999. PMID: 10521546

4

Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met.

Senderek J, Hermanns B, Lehmann U, Bergmann C, Marx G, Kabus C, Timmerman V, Stoltenburg-Didinger G, Schröder JM. Senderek J, et al. Among authors: bergmann c. Brain Pathol. 2000 Apr;10(2):235-48. doi: 10.1111/j.1750-3639.2000.tb00257.x. Brain Pathol. 2000. PMID: 10764043 Free PMC article.

5

Becker muscular dystrophy combined with X-linked Charcot-Marie-Tooth neuropathy.

Bergmann C, Senderek J, Hermanns B, Jauch A, Janssen B, Schröder JM, Karch D. Bergmann C, et al. Muscle Nerve. 2000 May;23(5):818-23. doi: 10.1002/(sici)1097-4598(200005)23:5<818::aid-mus23>3.0.co;2-o. Muscle Nerve. 2000. PMID: 10797409

6

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

7

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.

8

Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain.

Senderek J, Ramaekers VT, Zerres K, Rudnik-Schöneborn S, Schröder JM, Bergmann C. Senderek J, et al. Among authors: bergmann c. J Neurol Sci. 2001 Nov 15;192(1-2):49-51. doi: 10.1016/s0022-510x(01)00591-3. J Neurol Sci. 2001. PMID: 11701152

9

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.

10

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

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