Rudnik-Schöneborn S - Search Results

1

Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.

Braunisch MC, Gallwitz H, Abicht A, Diebold I, Holinski-Feder E, Van Maldergem L, Lammens M, Kovács-Nagy R, Alhaddad B, Strom TM, Meitinger T, Senderek J, Rudnik-Schöneborn S, Haack TB. Braunisch MC, et al. Clin Genet. 2018 Feb;93(2):255-265. doi: 10.1111/cge.13084. Epub 2017 Nov 8. Clin Genet. 2018. PMID: 28653766

2

Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships.

Deget F, Rudnik-Schöneborn S, Zerres K. Deget F, et al. Clin Genet. 1995 May;47(5):248-53. doi: 10.1111/j.1399-0004.1995.tb04305.x. Clin Genet. 1995. PMID: 7554350 Review.

3

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

4

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.

Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schöneborn S, Zerres K, Hübner C. Grohmann K, et al. Nat Genet. 2001 Sep;29(1):75-7. doi: 10.1038/ng703. Nat Genet. 2001. PMID: 11528396

5

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. 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

6

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.

7

Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy.

Rudnik-Schöneborn S, Sztriha L, Aithala GR, Houge G, Laegreid LM, Seeger J, Huppke M, Wirth B, Zerres K. Rudnik-Schöneborn S, et al. Am J Med Genet A. 2003 Feb 15;117A(1):10-7. doi: 10.1002/ajmg.a.10863. Am J Med Genet A. 2003. PMID: 12548734

8

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

9

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

10

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.

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