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Point mutations in human GLI3 cause Greig syndrome.
Wild A, Kalff-Suske M, Vortkamp A, Bornholdt D, König R, Grzeschik KH. Wild A, et al. Among authors: bornholdt d. Hum Mol Genet. 1997 Oct;6(11):1979-84. doi: 10.1093/hmg/6.11.1979. Hum Mol Genet. 1997. PMID: 9302279
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Wang H, Humbatova A, Liu Y, Qin W, Lee M, Cesarato N, Kortüm F, Kumar S, Romano MT, Dai S, Mo R, Sivalingam S, Motameny S, Wu Y, Wang X, Niu X, Geng S, Bornholdt D, Kroisel PM, Tadini G, Walter SD, Hauck F, Girisha KM, Calza AM, Bottani A, Altmüller J, Buness A, Yang S, Sun X, Ma L, Kutsche K, Grzeschik KH, Betz RC, Lin Z. Wang H, et al. Among authors: bornholdt d. Am J Hum Genet. 2020 Jul 2;107(1):34-45. doi: 10.1016/j.ajhg.2020.05.006. Epub 2020 Jun 3. Am J Hum Genet. 2020. PMID: 32497488 Free PMC article.
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. Among authors: bornholdt d. Hum Mol Genet. 1999 Sep;8(9):1769-77. doi: 10.1093/hmg/8.9.1769. Hum Mol Genet. 1999. PMID: 10441342
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.
Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Chandal D, Blouin JL, Solanki JV, Grzeschik KH, Antonarakis SE. Radhakrishna U, et al. Among authors: bornholdt d. Am J Hum Genet. 1999 Sep;65(3):645-55. doi: 10.1086/302557. Am J Hum Genet. 1999. PMID: 10441570 Free PMC article.
Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome.
Driess S, Freese K, Bornholdt D, Kobelt A, Kress W, Mortier G, Radhakrishna U, Antonarakis SE, Rauch A, Suri M, Verheij JB, Woerle H, Grzeschik KH, Kalff-Suske M. Driess S, et al. Among authors: bornholdt d. Hum Genet. 2003 Jan;112(1):103. Hum Genet. 2003. PMID: 12575660 No abstract available.
Gene symbol: GLI3. Disease: Pallister-Hall syndrome.
Freese K, Driess S, Bornholdt D, Shoenle EJ, Seidel H, Tinschert S, Grzeschik KH, Kalff-Suske M. Freese K, et al. Among authors: bornholdt d. Hum Genet. 2003 Jan;112(1):103. Hum Genet. 2003. PMID: 12575661 No abstract available.
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