Gaudenz K - Search Results

1

Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly.

Roessler E, Belloni E, Gaudenz K, Vargas F, Scherer SW, Tsui LC, Muenke M. Roessler E, et al. Among authors: gaudenz k. Hum Mol Genet. 1997 Oct;6(11):1847-53. doi: 10.1093/hmg/6.11.1847. Hum Mol Genet. 1997. PMID: 9302262

2

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.

Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui LC, Muenke M. Roessler E, et al. Among authors: gaudenz k. Nat Genet. 1996 Nov;14(3):357-60. doi: 10.1038/ng1196-357. Nat Genet. 1996. PMID: 8896572

3

Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly.

Roessler E, Ward DE, Gaudenz K, Belloni E, Scherer SW, Donnai D, Siegel-Bartelt J, Tsui LC, Muenke M. Roessler E, et al. Among authors: gaudenz k. Hum Genet. 1997 Aug;100(2):172-81. doi: 10.1007/s004390050486. Hum Genet. 1997. PMID: 9254845

4

Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly.

Vargas FR, Roessler E, Gaudenz K, Belloni E, Whitehead AS, Kirke PN, Mills JL, Hooper G, Stevenson RE, Cordeiro I, Correia P, Felix T, Gereige R, Cunningham ML, Canún S, Antonarakis SE, Strachan T, Tsui LC, Scherer SW, Muenke M. Vargas FR, et al. Among authors: gaudenz k. Hum Genet. 1998 Apr;102(4):387-92. doi: 10.1007/s004390050709. Hum Genet. 1998. PMID: 9600232 Review.

5

Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.

Gaudenz K, Roessler E, Quaderi N, Franco B, Feldman G, Gasser DL, Wittwer B, Horst J, Montini E, Opitz JM, Ballabio A, Muenke M. Gaudenz K, et al. Am J Hum Genet. 1998 Sep;63(3):703-10. doi: 10.1086/302010. Am J Hum Genet. 1998. PMID: 9718340 Free PMC article.

6

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.

Bellus GA, Gaudenz K, Zackai EH, Clarke LA, Szabo J, Francomano CA, Muenke M. Bellus GA, et al. Among authors: gaudenz k. Nat Genet. 1996 Oct;14(2):174-6. doi: 10.1038/ng1096-174. Nat Genet. 1996. PMID: 8841188

7

Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4.

Gaudenz K, Roessler E, Vainikka S, Alitalo K, Muenke M. Gaudenz K, et al. Mol Genet Metab. 1998 May;64(1):76-9. doi: 10.1006/mgme.1998.2694. Mol Genet Metab. 1998. PMID: 9682222 Free article.

8

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken HW, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Adès LC, Haan EA, Mulley JC, Cohen MM Jr, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AO, et al. Muenke M, et al. Among authors: gaudenz k. Am J Hum Genet. 1997 Mar;60(3):555-64. Am J Hum Genet. 1997. PMID: 9042914 Free PMC article.

9

Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.

Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Glat PM, Cassileth LB, Mayro R, Zackai EH, Muenke M. Gripp KW, et al. Among authors: gaudenz k. J Pediatr. 1998 Apr;132(4):714-6. doi: 10.1016/s0022-3476(98)70366-x. J Pediatr. 1998. PMID: 9580776

10

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.

Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, Ballabio A. Quaderi NA, et al. Among authors: gaudenz k. Nat Genet. 1997 Nov;17(3):285-91. doi: 10.1038/ng1197-285. Nat Genet. 1997. PMID: 9354791 Free article.

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