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Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.
Kalff-Suske M, Wild A, Topp J, Wessling M, Jacobsen EM, Bornholdt D, Engel H, Heuer H, Aalfs CM, Ausems MG, Barone R, Herzog A, Heutink P, Homfray T, Gillessen-Kaesbach G, König R, Kunze J, Meinecke P, Müller D, Rizzo R, Strenge S, Superti-Furga A, Grzeschik KH. Kalff-Suske M, et al. Hum Mol Genet. 1999 Sep;8(9):1769-77. doi: 10.1093/hmg/8.9.1769. Hum Mol Genet. 1999. PMID: 10441342
A patient with interstitial deletion of the short arm of chromosome 3 (pter-->p21.2::p12-->qter) and a CHARGE-like phenotype.
Wieczorek D, Bolt J, Schwechheimer K, Gillessen-Kaesbach G. Wieczorek D, et al. Am J Med Genet. 1997 Apr 14;69(4):413-7. doi: 10.1002/(sici)1096-8628(19970414)69:4<413::aid-ajmg15>3.0.co;2-q. Am J Med Genet. 1997. PMID: 9098493
Exclusion of linkage between autosomal dominant split hand/split foot and markers from chromosome 7q: further evidence for genetic heterogeneity.
Gurrieri F, Genuardi M, Chiurazzi P, Gillessen-Kaesbach G, Neri G. Gurrieri F, et al. Am J Hum Genet. 1994 Oct;55(4):853-5. Am J Hum Genet. 1994. PMID: 7942863 Free PMC article. No abstract available.
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.
Schwabe GC, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen-Kaesbach G, Oldridge M, Wilkie AO, Kömec R, Mundlos S. Schwabe GC, et al. Am J Hum Genet. 2000 Oct;67(4):822-31. doi: 10.1086/303084. Epub 2000 Sep 12. Am J Hum Genet. 2000. PMID: 10986040 Free PMC article.
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.
Parenti I, Gervasini C, Pozojevic J, Wendt KS, Watrin E, Azzollini J, Braunholz D, Buiting K, Cereda A, Engels H, Garavelli L, Glazar R, Graffmann B, Larizza L, Lüdecke HJ, Mariani M, Masciadri M, Pié J, Ramos FJ, Russo S, Selicorni A, Stefanova M, Strom TM, Werner R, Wierzba J, Zampino G, Gillessen-Kaesbach G, Wieczorek D, Kaiser FJ. Parenti I, et al. Clin Genet. 2016 May;89(5):564-73. doi: 10.1111/cge.12717. Epub 2016 Jan 25. Clin Genet. 2016. PMID: 26671848 Clinical Trial.
Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15.
Runte M, Färber C, Lich C, Zeschnigk M, Buchholz T, Smith A, Van Maldergem L, Bürger J, Muscatelli F, Gillessen-Kaesbach G, Horsthemke B, Buiting K. Runte M, et al. Eur J Hum Genet. 2001 Jul;9(7):519-26. doi: 10.1038/sj.ejhg.5200661. Eur J Hum Genet. 2001. PMID: 11464243
Girl with phenotypic abnormalities and a de novo, apparently balanced translocation 46,XX,t(5;10)(q35.2q11.2).
Zhu G, Gillessen-Kaesbach G, Wirth J, Passarge E, Bartsch O. Zhu G, et al. Am J Med Genet. 2001 Feb 1;98(4):317-9. doi: 10.1002/1096-8628(20010201)98:4<317::aid-ajmg1129>3.0.co;2-e. Am J Med Genet. 2001. PMID: 11170074
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
Lüdecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, Hirche H, Abramowicz MJ, Albrecht B, Apacik C, Christen HJ, Claussen U, Devriendt K, Fastnacht E, Forderer A, Friedrich U, Goodship TH, Greiwe M, Hamm H, Hennekam RC, Hinkel GK, Hoeltzenbein M, Kayserili H, Majewski F, Mathieu M, McLeod R, Midro AT, Moog U, Nagai T, Niikawa N, Orstavik KH, Plöchl E, Seitz C, Schmidtke J, Tranebjaerg L, Tsukahara M, Wittwer B, Zabel B, Gillessen-Kaesbach G, Horsthemke B. Lüdecke HJ, et al. Am J Hum Genet. 2001 Jan;68(1):81-91. doi: 10.1086/316926. Epub 2000 Dec 7. Am J Hum Genet. 2001. PMID: 11112658 Free PMC article.
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