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Page 1
Mutational spectrum of NSDHL in CHILD syndrome.
Bornholdt D, König A, Happle R, Leveleki L, Bittar M, Danarti R, Vahlquist A, Tilgen W, Reinhold U, Poiares Baptista A, Grosshans E, Vabres P, Niiyama S, Sasaoka K, Tanaka T, Meiss AL, Treadwell PA, Lambert D, Camacho F, Grzeschik KH. Bornholdt D, et al. Among authors: grzeschik kh. J Med Genet. 2005 Feb;42(2):e17. doi: 10.1136/jmg.2004.024448. J Med Genet. 2005. PMID: 15689440 Free PMC article. No abstract available.
CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene.
Kim CA, Konig A, Bertola DR, Albano LM, Gattás GJ, Bornholdt D, Leveleki L, Happle R, Grzeschik KH. Kim CA, et al. Among authors: grzeschik kh. Dermatology. 2005;211(2):155-8. doi: 10.1159/000086448. Dermatology. 2005. PMID: 16088165
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: grzeschik kh. Hum Mol Genet. 1997 Oct;6(11):1979-84. doi: 10.1093/hmg/6.11.1979. Hum Mol Genet. 1997. PMID: 9302279
Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.
Debeer P, Peeters H, Driess S, De Smet L, Freese K, Matthijs G, Bornholdt D, Devriendt K, Grzeschik KH, Fryns JP, Kalff-Suske M. Debeer P, et al. Among authors: grzeschik kh. Am J Med Genet A. 2003 Jul 1;120A(1):49-58. doi: 10.1002/ajmg.a.20018. Am J Med Genet A. 2003. PMID: 12794692
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: grzeschik kh. Hum Genet. 2003 Jan;112(1):103. Hum Genet. 2003. PMID: 12575660 No abstract available.
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: grzeschik kh. Hum Mol Genet. 1999 Sep;8(9):1769-77. doi: 10.1093/hmg/8.9.1769. Hum Mol Genet. 1999. PMID: 10441342
Gene symbol: GLI3. Disease: Pallister-Hall syndrome.
Kalff-Suske M, Paparidis Z, Bornholdt D, Cole T, Kalff-Suske M, Grzeschik KH. Kalff-Suske M, et al. Among authors: grzeschik kh. Hum Genet. 2004 Mar;114(4):403. Hum Genet. 2004. PMID: 15046066 No abstract available.
272 results