Fiebig B - Search Results

1

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. Among authors: fiebig b. 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.

2

A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.

Klopocki E, Fiebig B, Robinson P, Tönnies H, Erdogan F, Ropers HH, Mundlos S, Ullmann R. Klopocki E, et al. Among authors: fiebig b. Am J Med Genet A. 2006 Apr 15;140(8):873-7. doi: 10.1002/ajmg.a.31163. Am J Med Genet A. 2006. PMID: 16528753

3

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. 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.

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. Among authors: fiebig b. 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

Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay.

Refke M, Pasternack SM, Fiebig B, Wenzel S, Ishorst N, Ludwig M, Nöthen MM, Seyger MM, Hamel BC, Betz RC. Refke M, et al. Among authors: fiebig b. Br J Dermatol. 2011 Nov;165(5):1127-32. doi: 10.1111/j.1365-2133.2011.10495.x. Epub 2011 Sep 29. Br J Dermatol. 2011. PMID: 21718278

6

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

7

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. 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.

8

[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.

9

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. Among authors: fiebig b. Ophthalmic Genet. 2016 Jun;37(2):201-8. doi: 10.3109/13816810.2015.1033556. Epub 2016 Jan 15. Ophthalmic Genet. 2016. PMID: 26771239

10

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.

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