Weber RG - Search Results

1

Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

Brockschmidt A, Todt U, Ryu S, Hoischen A, Landwehr C, Birnbaum S, Frenck W, Radlwimmer B, Lichter P, Engels H, Driever W, Kubisch C, Weber RG. Brockschmidt A, et al. Among authors: weber rg. Hum Mol Genet. 2007 Jun 15;16(12):1488-94. doi: 10.1093/hmg/ddm099. Epub 2007 May 3. Hum Mol Genet. 2007. PMID: 17478476

2

High-resolution comparative hybridization to combed DNA fibers.

Kraus J, Weber RG, Cremer M, Seebacher T, Fischer C, Schurra C, Jauch A, Lichter P, Bensimon A, Cremer T. Kraus J, et al. Among authors: weber rg. Hum Genet. 1997 Mar;99(3):374-80. doi: 10.1007/s004390050375. Hum Genet. 1997. PMID: 9050926

3

A novel orphan G protein-coupled receptor primarily expressed in the brain is localized on human chromosomal band 2q21.

Bläsius R, Weber RG, Lichter P, Ogilvie A. Bläsius R, et al. Among authors: weber rg. J Neurochem. 1998 Apr;70(4):1357-65. doi: 10.1046/j.1471-4159.1998.70041357.x. J Neurochem. 1998. PMID: 9523551 Free article.

4

Amplification and expression of cyclin D genes (CCND1, CCND2 and CCND3) in human malignant gliomas.

Büschges R, Weber RG, Actor B, Lichter P, Collins VP, Reifenberger G. Büschges R, et al. Among authors: weber rg. Brain Pathol. 1999 Jul;9(3):435-42; discussion 432-3. doi: 10.1111/j.1750-3639.1999.tb00532.x. Brain Pathol. 1999. PMID: 10416984 Free PMC article.

5

Chordoid glioma of the third ventricle: immunohistochemical and molecular genetic characterization of a novel tumor entity.

Reifenberger G, Weber T, Weber RG, Wolter M, Brandis A, Kuchelmeister K, Pilz P, Reusche E, Lichter P, Wiestler OD. Reifenberger G, et al. Among authors: weber t, weber rg. Brain Pathol. 1999 Oct;9(4):617-26. doi: 10.1111/j.1750-3639.1999.tb00543.x. Brain Pathol. 1999. PMID: 10517500 Free PMC article.

6

Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.

Friedl W, Uhlhaas S, Schulmann K, Stolte M, Loff S, Back W, Mangold E, Stern M, Knaebel HP, Sutter C, Weber RG, Pistorius S, Burger B, Propping P. Friedl W, et al. Among authors: weber rg. Hum Genet. 2002 Jul;111(1):108-11. doi: 10.1007/s00439-002-0748-9. Epub 2002 Jun 13. Hum Genet. 2002. PMID: 12136244

7

Comprehensive genomic analysis of desmoplastic medulloblastomas: identification of novel amplified genes and separate evaluation of the different histological components.

Ehrbrecht A, Müller U, Wolter M, Hoischen A, Koch A, Radlwimmer B, Actor B, Mincheva A, Pietsch T, Lichter P, Reifenberger G, Weber RG. Ehrbrecht A, et al. Among authors: weber rg. J Pathol. 2006 Mar;208(4):554-63. doi: 10.1002/path.1925. J Pathol. 2006. PMID: 16400626

8

Global brain dysmyelination with above-average verbal skills in 18q- syndrome with a 17 Mb terminal deletion.

Netzer C, Helmstaedter C, Ehrbrecht A, Engels H, Schwanitz G, Urbach H, Schröder R, Weber RG, Kornblum C. Netzer C, et al. Among authors: weber rg. Acta Neurol Scand. 2006 Aug;114(2):133-8. doi: 10.1111/j.1600-0404.2006.00626.x. Acta Neurol Scand. 2006. PMID: 16867037

9

Frequent loss of chromosome 9, homozygous CDKN2A/p14(ARF)/CDKN2B deletion and low TSC1 mRNA expression in pleomorphic xanthoastrocytomas.

Weber RG, Hoischen A, Ehrler M, Zipper P, Kaulich K, Blaschke B, Becker AJ, Weber-Mangal S, Jauch A, Radlwimmer B, Schramm J, Wiestler OD, Lichter P, Reifenberger G. Weber RG, et al. Among authors: weber mangal s. Oncogene. 2007 Feb 15;26(7):1088-97. doi: 10.1038/sj.onc.1209851. Epub 2006 Aug 7. Oncogene. 2007. PMID: 16909113

10

Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation.

Brenk CH, Prott EC, Trost D, Hoischen A, Walldorf C, Radlwimmer B, Wieczorek D, Propping P, Gillessen-Kaesbach G, Weber RG, Engels H. Brenk CH, et al. Among authors: weber rg. Eur J Hum Genet. 2007 Jan;15(1):35-44. doi: 10.1038/sj.ejhg.5201718. Epub 2006 Oct 4. Eur J Hum Genet. 2007. PMID: 17024214

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