Guipponi M - Search Results

1

TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness.

Guipponi M, Antonarakis SE, Scott HS. Guipponi M, et al. Front Biosci. 2008 Jan 1;13:1557-67. doi: 10.2741/2780. Front Biosci. 2008. PMID: 17981648 Review.

2

Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.

Scott HS, Kudoh J, Wattenhofer M, Shibuya K, Berry A, Chrast R, Guipponi M, Wang J, Kawasaki K, Asakawa S, Minoshima S, Younus F, Mehdi SQ, Radhakrishna U, Papasavvas MP, Gehrig C, Rossier C, Korostishevsky M, Gal A, Shimizu N, Bonne-Tamir B, Antonarakis SE. Scott HS, et al. Among authors: guipponi m. Nat Genet. 2001 Jan;27(1):59-63. doi: 10.1038/83768. Nat Genet. 2001. PMID: 11137999

3

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.

Masmoudi S, Antonarakis SE, Schwede T, Ghorbel AM, Gratri M, Pappasavas MP, Drira M, Elgaied-Boulila A, Wattenhofer M, Rossier C, Scott HS, Ayadi H, Guipponi M. Masmoudi S, et al. Among authors: guipponi m. Hum Mutat. 2001 Aug;18(2):101-8. doi: 10.1002/humu.1159. Hum Mutat. 2001. PMID: 11462234

4

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.

Guipponi M, Vuagniaux G, Wattenhofer M, Shibuya K, Vazquez M, Dougherty L, Scamuffa N, Guida E, Okui M, Rossier C, Hancock M, Buchet K, Reymond A, Hummler E, Marzella PL, Kudoh J, Shimizu N, Scott HS, Antonarakis SE, Rossier BC. Guipponi M, et al. Hum Mol Genet. 2002 Nov 1;11(23):2829-36. doi: 10.1093/hmg/11.23.2829. Hum Mol Genet. 2002. PMID: 12393794

5

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

6

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

7

Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region.

Berry A, Scott HS, Kudoh J, Talior I, Korostishevsky M, Wattenhofer M, Guipponi M, Barras C, Rossier C, Shibuya K, Wang J, Kawasaki K, Asakawa S, Minoshima S, Shimizu N, Antonarakis S, Bonné-Tamir B. Berry A, et al. Among authors: guipponi m. Genomics. 2000 Aug 15;68(1):22-9. doi: 10.1006/geno.2000.6253. Genomics. 2000. PMID: 10950923

8

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

9

Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12.

Friedli M, Guipponi M, Bertrand S, Bertrand D, Neerman-Arbez M, Scott HS, Antonarakis SE, Reymond A. Friedli M, et al. Among authors: guipponi m. Gene. 2003 Nov 27;320:31-40. doi: 10.1016/s0378-1119(03)00830-8. Gene. 2003. PMID: 14597386

10

Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.

Menzel O, Bekkeheien RC, Reymond A, Fukai N, Boye E, Kosztolanyi G, Aftimos S, Deutsch S, Scott HS, Olsen BR, Antonarakis SE, Guipponi M. Menzel O, et al. Among authors: guipponi m. Hum Mutat. 2004 Jan;23(1):77-84. doi: 10.1002/humu.10284. Hum Mutat. 2004. PMID: 14695535

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