Fiebig BS - Search Results

1

PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption.

Decker E, Stellzig-Eisenhauer A, Fiebig BS, Rau C, Kress W, Saar K, Rüschendorf F, Hubner N, Grimm T, Weber BH. Decker E, et al. Among authors: fiebig bs. Am J Hum Genet. 2008 Dec;83(6):781-6. doi: 10.1016/j.ajhg.2008.11.006. Am J Hum Genet. 2008. PMID: 19061984 Free PMC article.

2

Primary failure of eruption (PFE)--clinical and molecular genetics analysis.

Stellzig-Eisenhauer A, Decker E, Meyer-Marcotty P, Rau C, Fiebig BS, Kress W, Saar K, Rüschendorf F, Hubner N, Grimm T, Witt E, Weber BH. Stellzig-Eisenhauer A, et al. Among authors: fiebig bs. J Orofac Orthop. 2010 Jan;71(1):6-16. doi: 10.1007/s00056-010-0908-9. Epub 2010 Feb 5. J Orofac Orthop. 2010. PMID: 20135246 English, German.

3

[Primary failure of eruption (PFE). Clinical and molecular genetics analysis].

Stellzig-Eisenhauer A, Decker E, Meyer-Marcotty P, Rau C, Fiebig BS, Kress W, Saar K, Rüschendorf F, Hubner N, Grimm T, Witt E, Weber BH. Stellzig-Eisenhauer A, et al. Among authors: fiebig bs. Orthod Fr. 2013 Sep;84(3):241-50. doi: 10.1051/orthodfr/2013055. Epub 2013 Sep 3. Orthod Fr. 2013. PMID: 23993365 French.

4

Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin.

Preisler-Adams S, Schönbuchner I, Fiebig B, Welling B, Dworniczak B, Weber BH. Preisler-Adams S, et al. Cancer Genet Cytogenet. 2006 Jul 1;168(1):44-9. doi: 10.1016/j.cancergencyto.2005.07.005. Cancer Genet Cytogenet. 2006. PMID: 16772120

5

Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1.

Kellner S, Stöhr H, Fiebig B, Weinitz S, Farmand G, Kellner U, Weber BH. Kellner S, et al. Ophthalmic Genet. 2016 Jun;37(2):201-8. doi: 10.3109/13816810.2015.1033556. Epub 2016 Jan 15. Ophthalmic Genet. 2016. PMID: 26771239

6

Identification of an oncostatin M receptor mutation associated with familial primary cutaneous amyloidosis.

Babilas P, Fiebig BS, Aslanidis C, Hansen J, Röcken C, Schroeder J, Schmitz G, Weber BH, Landthaler M, Vogt T. Babilas P, et al. Among authors: fiebig bs. Br J Dermatol. 2009 Oct;161(4):944-7. doi: 10.1111/j.1365-2133.2009.09237.x. Epub 2009 May 21. Br J Dermatol. 2009. PMID: 19466957 No abstract available.

7

Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation.

Renner AB, Fiebig BS, Cropp E, Weber BH, Kellner U. Renner AB, et al. Among authors: fiebig bs. Arch Ophthalmol. 2009 Jul;127(7):907-12. doi: 10.1001/archophthalmol.2009.123. Arch Ophthalmol. 2009. PMID: 19597113

8

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.

Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Körber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K. Michalk A, et al. Am J Hum Genet. 2008 Feb;82(2):464-76. doi: 10.1016/j.ajhg.2007.11.006. Am J Hum Genet. 2008. PMID: 18252226 Free PMC article.

9

A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene.

Fritsche LG, Fleckenstein M, Fiebig BS, Schmitz-Valckenberg S, Bindewald-Wittich A, Keilhauer CN, Renner AB, Mackensen F, Mößner A, Pauleikhoff D, Adrion C, Mansmann U, Scholl HP, Holz FG, Weber BH. Fritsche LG, et al. Among authors: fiebig bs. Invest Ophthalmol Vis Sci. 2012 Apr 30;53(4):2112-8. doi: 10.1167/iovs.11-8785. Invest Ophthalmol Vis Sci. 2012. PMID: 22427542

10

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

Renner AB, Fiebig BS, Weber BH, Wissinger B, Andreasson S, Gal A, Cropp E, Kohl S, Kellner U. Renner AB, et al. Among authors: fiebig bs. Am J Ophthalmol. 2009 Mar;147(3):518-530.e1. doi: 10.1016/j.ajo.2008.09.007. Epub 2008 Nov 26. Am J Ophthalmol. 2009. PMID: 19038374

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