Rossier C - Search Results

1

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.

Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Chandal D, Blouin JL, Solanki JV, Grzeschik KH, Antonarakis SE. Radhakrishna U, et al. Among authors: rossier c. Am J Hum Genet. 1999 Sep;65(3):645-55. doi: 10.1086/302557. Am J Hum Genet. 1999. PMID: 10441570 Free PMC article.

2

Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3.

Chen H, Rossier C, Lalioti MD, Lynn A, Chakravarti A, Perrin G, Antonarakis SE. Chen H, et al. Among authors: rossier c. Am J Hum Genet. 1996 Jul;59(1):66-75. Am J Hum Genet. 1996. PMID: 8659545 Free PMC article.

3

Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).

Lalioti MD, Mirotsou M, Buresi C, Peitsch MC, Rossier C, Ouazzani R, Baldy-Moulinier M, Bottani A, Malafosse A, Antonarakis SE. Lalioti MD, et al. Among authors: rossier c. Am J Hum Genet. 1997 Feb;60(2):342-51. Am J Hum Genet. 1997. PMID: 9012407 Free PMC article.

4

Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3.

Scott HS, Chen H, Rossier C, Lalioti MD, Antonarakis SE. Scott HS, et al. Among authors: rossier c. Hum Genet. 1997 May;99(5):616-23. doi: 10.1007/s004390050416. Hum Genet. 1997. PMID: 9150728

5

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: rossier c. Hum Genet. 1998 Mar;102(3):282-8. doi: 10.1007/s004390050692. Hum Genet. 1998. PMID: 9544839

6

Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity.

Mehenni H, Gehrig C, Nezu J, Oku A, Shimane M, Rossier C, Guex N, Blouin JL, Scott HS, Antonarakis SE. Mehenni H, et al. Among authors: rossier c. Am J Hum Genet. 1998 Dec;63(6):1641-50. doi: 10.1086/302159. Am J Hum Genet. 1998. PMID: 9837816 Free PMC article.

7

A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y.

Chen H, Rossier C, Morris MA, Scott HS, Gos A, Bairoch A, Antonarakis SE. Chen H, et al. Among authors: rossier c. Hum Genet. 1999 Nov;105(5):399-409. doi: 10.1007/s004390051122. Hum Genet. 1999. PMID: 10598804

8

Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains.

Wattenhofer M, Shibuya K, Kudoh J, Lyle R, Michaud J, Rossier C, Kawasaki K, Asakawa S, Minoshima S, Berry A, Bonne-Tamir B, Shimizu N, Antonarakis SE, Scott HS. Wattenhofer M, et al. Among authors: rossier c. Hum Genet. 2001 Feb;108(2):140-7. doi: 10.1007/s004390000453. Hum Genet. 2001. PMID: 11281453

9

In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.

Michaud J, Wu F, Osato M, Cottles GM, Yanagida M, Asou N, Shigesada K, Ito Y, Benson KF, Raskind WH, Rossier C, Antonarakis SE, Israels S, McNicol A, Weiss H, Horwitz M, Scott HS. Michaud J, et al. Among authors: rossier c. Blood. 2002 Feb 15;99(4):1364-72. doi: 10.1182/blood.v99.4.1364. Blood. 2002. PMID: 11830488 Free article.

10

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. Among authors: rossier c, rossier bc. Hum Mol Genet. 2002 Nov 1;11(23):2829-36. doi: 10.1093/hmg/11.23.2829. Hum Mol Genet. 2002. PMID: 12393794

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

137 results

Search Page