Belloni E - 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: belloni e. Hum Mol Genet. 1997 Oct;6(11):1847-53. doi: 10.1093/hmg/6.11.1847. Hum Mol Genet. 1997. PMID: 9302262

2

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

Belloni E, Muenke M, Roessler E, Traverso G, Siegel-Bartelt J, Frumkin A, Mitchell HF, Donis-Keller H, Helms C, Hing AV, Heng HH, Koop B, Martindale D, Rommens JM, Tsui LC, Scherer SW. Belloni E, et al. Nat Genet. 1996 Nov;14(3):353-6. doi: 10.1038/ng1196-353. Nat Genet. 1996. PMID: 8896571

3

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: belloni e. Nat Genet. 1996 Nov;14(3):357-60. doi: 10.1038/ng1196-357. Nat Genet. 1996. PMID: 8896572

4

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: belloni e. Hum Genet. 1997 Aug;100(2):172-81. doi: 10.1007/s004390050486. Hum Genet. 1997. PMID: 9254845

5

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: belloni e. Hum Genet. 1998 Apr;102(4):387-92. doi: 10.1007/s004390050709. Hum Genet. 1998. PMID: 9600232 Review.

6

Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency.

Nowaczyk MJ, Huggins MJ, Tomkins DJ, Rossi E, Ramsay JA, Woulfe J, Scherer SW, Belloni E. Nowaczyk MJ, et al. Among authors: belloni e. Clin Genet. 2000 May;57(5):388-93. doi: 10.1034/j.1399-0004.2000.570510.x. Clin Genet. 2000. PMID: 10852374

7

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly.

Scherer SW, Poorkaj P, Massa H, Soder S, Allen T, Nunes M, Geshuri D, Wong E, Belloni E, Little S, et al. Scherer SW, et al. Among authors: belloni e. Hum Mol Genet. 1994 Aug;3(8):1345-54. doi: 10.1093/hmg/3.8.1345. Hum Mol Genet. 1994. PMID: 7987313

8

Localization of two metabotropic glutamate receptor genes, GRM3 and GRM8, to human chromosome 7q.

Scherer SW, Duvoisin RM, Kuhn R, Heng HH, Belloni E, Tsui LC. Scherer SW, et al. Among authors: belloni e. Genomics. 1996 Jan 15;31(2):230-3. doi: 10.1006/geno.1996.0036. Genomics. 1996. PMID: 8824806 Free article.

9

Involvement of the HLXB9 homeobox gene in Currarino syndrome.

Belloni E, Martucciello G, Verderio D, Ponti E, Seri M, Jasonni V, Torre M, Ferrari M, Tsui LC, Scherer SW. Belloni E, et al. Am J Hum Genet. 2000 Jan;66(1):312-9. doi: 10.1086/302723. Am J Hum Genet. 2000. PMID: 10631160 Free PMC article. No abstract available.

10

Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: a possible contributor to the holoprosencephaly 3 phenotype.

Mackay M, Fantes J, Scherer S, Boyle S, West K, Tsui LC, Belloni E, Lutz E, Van Heyningen V, Harmar AJ. Mackay M, et al. Among authors: belloni e. Genomics. 1996 Nov 1;37(3):345-53. doi: 10.1006/geno.1996.0569. Genomics. 1996. PMID: 8938447

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