Gillessen-Kaesbach G - Search Results

1

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.

Tasse C, Böhringer S, Fischer S, Lüdecke HJ, Albrecht B, Horn D, Janecke A, Kling R, König R, Lorenz B, Majewski F, Maeyens E, Meinecke P, Mitulla B, Mohr C, Preischl M, Umstadt H, Kohlhase J, Gillessen-Kaesbach G, Wieczorek D. Tasse C, et al. Eur J Med Genet. 2005 Oct-Dec;48(4):397-411. doi: 10.1016/j.ejmg.2005.04.015. Epub 2005 Jun 8. Eur J Med Genet. 2005. PMID: 16378924

2

Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum.

Fischer S, Lüdecke HJ, Wieczorek D, Böhringer S, Gillessen-Kaesbach G, Horsthemke B. Fischer S, et al. Hum Mol Genet. 2006 Feb 15;15(4):581-7. doi: 10.1093/hmg/ddi474. Epub 2006 Jan 11. Hum Mol Genet. 2006. PMID: 16407370

3

A family with autosomal dominant oculo-auriculo-vertebral spectrum.

Tasse C, Majewski F, Böhringer S, Fischer S, Lüdecke HJ, Gillessen-Kaesbach G, Wieczorek D. Tasse C, et al. Clin Dysmorphol. 2007 Jan;16(1):1-7. doi: 10.1097/MCD.0b013e328010d313. Clin Dysmorphol. 2007. PMID: 17159507 Review.

4

Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome.

Wieczorek D, Ludwig M, Boehringer S, Jongbloet PH, Gillessen-Kaesbach G, Horsthemke B. Wieczorek D, et al. Hum Genet. 2007 May;121(3-4):369-76. doi: 10.1007/s00439-007-0336-0. Epub 2007 Feb 13. Hum Genet. 2007. PMID: 17297623

5

Cardio-facio-cutaneous (CFC) syndrome--a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome.

Wieczorek D, Majewski F, Gillessen-Kaesbach G. Wieczorek D, et al. Clin Genet. 1997 Jul;52(1):37-46. doi: 10.1111/j.1399-0004.1997.tb02512.x. Clin Genet. 1997. PMID: 9272711 Review.

6

Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.

Wieczorek D, Krause M, Majewski F, Albrecht B, Horn D, Riess O, Gillessen-Kaesbach G. Wieczorek D, et al. Eur J Hum Genet. 2000 Jul;8(7):519-26. doi: 10.1038/sj.ejhg.5200498. Eur J Hum Genet. 2000. PMID: 10909852

7

Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation.

Wieczorek D, Köster B, Gillessen-Kaesbach G. Wieczorek D, et al. Am J Med Genet. 2002 Mar 15;108(3):209-13. doi: 10.1002/ajmg.10271. Am J Med Genet. 2002. PMID: 11891687

8

Distal monosomy 18p/distal trisomy 20p--a recognizable facial phenotype?

Wieczorek D, Bartsch O, Gillessen-Kaesbach G. Wieczorek D, et al. Am J Med Genet A. 2003 Jul 30;120A(3):429-33. doi: 10.1002/ajmg.a.20060. Am J Med Genet A. 2003. PMID: 12838568

9

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.

Teber OA, Gillessen-Kaesbach G, Fischer S, Böhringer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, Henn W, Hinkel GK, König R, Kunstmann E, Kunze J, Neumann LM, Prott EC, Rauch A, Rott HD, Seidel H, Spranger S, Sprengel M, Zoll B, Lohmann DR, Wieczorek D. Teber OA, et al. Eur J Hum Genet. 2004 Nov;12(11):879-90. doi: 10.1038/sj.ejhg.5201260. Eur J Hum Genet. 2004. PMID: 15340364

10

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.

Horn D, Chyrek M, Kleier S, Lüttgen S, Bolz H, Hinkel GK, Korenke GC, Riess A, Schell-Apacik C, Tinschert S, Wieczorek D, Gillessen-Kaesbach G, Kutsche K. Horn D, et al. Eur J Hum Genet. 2005 May;13(5):563-9. doi: 10.1038/sj.ejhg.5201391. Eur J Hum Genet. 2005. PMID: 15770227

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