Rossier C - Search Results

1

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.

Bartoloni L, Blouin JL, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C, Jorissen M, Armengot M, Meeks M, Mitchison HM, Chung EM, Delozier-Blanchet CD, Craigen WJ, Antonarakis SE. Bartoloni L, et al. Among authors: rossier c. Proc Natl Acad Sci U S A. 2002 Aug 6;99(16):10282-6. doi: 10.1073/pnas.152337699. Epub 2002 Jul 25. Proc Natl Acad Sci U S A. 2002. PMID: 12142464 Free PMC article.

2

DNAI1 mutations explain only 2% of primary ciliary dykinesia.

Failly M, Saitta A, Muñoz A, Falconnet E, Rossier C, Santamaria F, de Santi MM, Lazor R, DeLozier-Blanchet CD, Bartoloni L, Blouin JL. Failly M, et al. Among authors: rossier c. Respiration. 2008;76(2):198-204. doi: 10.1159/000128567. Epub 2008 Apr 23. Respiration. 2008. PMID: 18434704 Free article.

3

No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD).

Maiti AK, Bartoloni L, Mitchison HM, Meeks M, Chung E, Spiden S, Gehrig C, Rossier C, DeLozier-Blanchet CD, Blouin J, Gardiner RM, Antonarakis SE. Maiti AK, et al. Among authors: rossier c. Cytogenet Cell Genet. 2000;90(1-2):119-22. doi: 10.1159/000015645. Cytogenet Cell Genet. 2000. PMID: 11060460

4

Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia.

Bartoloni L, Blouin JL, Maiti AK, Sainsbury A, Rossier C, Gehrig C, She JX, Marron MP, Lander ES, Meeks M, Chung E, Armengot M, Jorissen M, Scott HS, Delozier-Blanchet CD, Gardiner RM, Antonarakis SE. Bartoloni L, et al. Among authors: rossier c. Genomics. 2001 Feb 15;72(1):21-33. doi: 10.1006/geno.2000.6462. Genomics. 2001. PMID: 11247663

5

Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs).

Dermitzakis ET, Reymond A, Scamuffa N, Ucla C, Kirkness E, Rossier C, Antonarakis SE. Dermitzakis ET, et al. Among authors: rossier c. Science. 2003 Nov 7;302(5647):1033-5. doi: 10.1126/science.1087047. Epub 2003 Oct 2. Science. 2003. PMID: 14526086

6

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.

Schwabe GC, Hoffmann K, Loges NT, Birker D, Rossier C, de Santi MM, Olbrich H, Fliegauf M, Failly M, Liebers U, Collura M, Gaedicke G, Mundlos S, Wahn U, Blouin JL, Niggemann B, Omran H, Antonarakis SE, Bartoloni L. Schwabe GC, et al. Among authors: rossier c. Hum Mutat. 2008 Feb;29(2):289-98. doi: 10.1002/humu.20656. Hum Mutat. 2008. PMID: 18022865

7

Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2.

Chen H, Morris MA, Rossier C, Blouin JL, Antonarakis SE. Chen H, et al. Among authors: rossier c. Genomics. 1995 Aug 10;28(3):470-6. doi: 10.1006/geno.1995.1176. Genomics. 1995. PMID: 7490082

8

Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2.

Chen H, Rossier C, Antonarakis SE. Chen H, et al. Among authors: rossier c. Genomics. 1996 Nov 15;38(1):30-7. doi: 10.1006/geno.1996.0588. Genomics. 1996. PMID: 8954776

9

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

10

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.

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