Guipponi M - Search Results

1

Nineteen additional unpredicted transcripts from human chromosome 21.

Reymond A, Camargo AA, Deutsch S, Stevenson BJ, Parmigiani RB, Ucla C, Bettoni F, Rossier C, Lyle R, Guipponi M, de Souza S, Iseli C, Jongeneel CV, Bucher P, Simpson AJ, Antonarakis SE. Reymond A, et al. Among authors: guipponi m. Genomics. 2002 Jun;79(6):824-32. doi: 10.1006/geno.2002.6781. Genomics. 2002. PMID: 12036297

2

Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon.

Guipponi M, Scott HS, Chen H, Schebesta A, Rossier C, Antonarakis SE. Guipponi M, et al. Genomics. 1998 Nov 1;53(3):369-76. doi: 10.1006/geno.1998.5521. Genomics. 1998. PMID: 9799604

3

C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning.

Guipponi M, Brunschwig K, Chamoun Z, Scott HS, Shibuya K, Kudoh J, Delezoide AL, El Samadi S, Chettouh Z, Rossier C, Shimizu N, Mueller F, Delabar JM, Antonarakis SE. Guipponi M, et al. Genomics. 2000 Aug 15;68(1):30-40. doi: 10.1006/geno.2000.6250. Genomics. 2000. PMID: 10950924

4

From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map.

Reymond A, Friedli M, Henrichsen CN, Chapot F, Deutsch S, Ucla C, Rossier C, Lyle R, Guipponi M, Antonarakis SE. Reymond A, et al. Among authors: guipponi m. Genomics. 2001 Nov;78(1-2):46-54. doi: 10.1006/geno.2001.6640. Genomics. 2001. PMID: 11707072

5

Identification of additional transcripts in the Williams-Beuren syndrome critical region.

Merla G, Ucla C, Guipponi M, Reymond A. Merla G, et al. Among authors: guipponi m. Hum Genet. 2002 May;110(5):429-38. doi: 10.1007/s00439-002-0710-x. Epub 2002 Mar 28. Hum Genet. 2002. PMID: 12073013

6

The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development.

Menzel O, Vellai T, Takacs-Vellai K, Reymond A, Mueller F, Antonarakis SE, Guipponi M. Menzel O, et al. Among authors: guipponi m. Genomics. 2004 Aug;84(2):320-30. doi: 10.1016/j.ygeno.2004.04.002. Genomics. 2004. PMID: 15233996

7

Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1.

Blouin JL, Duriaux Saïl G, Guipponi M, Rossier C, Pappasavas MP, Antonarakis SE. Blouin JL, et al. Among authors: guipponi m. Hum Genet. 1998 Mar;102(3):282-8. doi: 10.1007/s004390050692. Hum Genet. 1998. PMID: 9544839

8

Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2.

Guipponi M, Scott HS, Hattori M, Ishii K, Sakaki Y, Antonarakis SE. Guipponi M, et al. Cytogenet Cell Genet. 1998;83(3-4):218-20. doi: 10.1159/000015182. Cytogenet Cell Genet. 1998. PMID: 10072581

9

Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21.

Guipponi M, Yaspo ML, Riesselman L, Chen H, De Sario A, Roizès G, Antonarakis SE. Guipponi M, et al. Hum Genet. 2000 Aug;107(2):127-31. doi: 10.1007/s004390000343. Hum Genet. 2000. PMID: 11030409

10

The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family.

Guipponi M, Tapparel C, Jousson O, Scamuffa N, Mas C, Rossier C, Hutter P, Meda P, Lyle R, Reymond A, Antonarakis SE. Guipponi M, et al. Hum Genet. 2001 Dec;109(6):569-75. doi: 10.1007/s004390100607. Epub 2001 Oct 27. Hum Genet. 2001. PMID: 11810268

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