Blouin JL - Search Results

1

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.

Fokstuen S, Lyle R, Munoz A, Gehrig C, Lerch R, Perrot A, Osterziel KJ, Geier C, Beghetti M, Mach F, Sztajzel J, Sigwart U, Antonarakis SE, Blouin JL. Fokstuen S, et al. Among authors: blouin jl. Hum Mutat. 2008 Jun;29(6):879-85. doi: 10.1002/humu.20749. Hum Mutat. 2008. PMID: 18409188

2

Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice.

Fokstuen S, Munoz A, Melacini P, Iliceto S, Perrot A, Ozcelik C, Jeanrenaud X, Rieubland C, Farr M, Faber L, Sigwart U, Mach F, Lerch R, Antonarakis SE, Blouin JL. Fokstuen S, et al. Among authors: blouin jl. J Med Genet. 2011 Aug;48(8):572-6. doi: 10.1136/jmg.2010.083345. Epub 2011 Jan 14. J Med Genet. 2011. PMID: 21239446

3

[The contribution of molecular genetics to clinical cardiology: the example of hypertrophic cardiomyopathy].

Fokstuen S, Blouin JL, Lyle R, Lerch R, Beghetti M, Mach F, Sztajzel J, Antonarakis SE, Sigwart U. Fokstuen S, et al. Among authors: blouin jl. Rev Med Suisse. 2005 May 25;1(21):1448, 1450, 1452-3. Rev Med Suisse. 2005. PMID: 15997984 Review. French.

4

Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders.

Fokstuen S, Makrythanasis P, Nikolaev S, Santoni F, Robyr D, Munoz A, Bevillard J, Farinelli L, Iseli C, Antonarakis SE, Blouin JL. Fokstuen S, et al. Among authors: blouin jl. Clin Genet. 2014 Apr;85(4):365-70. doi: 10.1111/cge.12168. Epub 2013 May 13. Clin Genet. 2014. PMID: 23590259

5

FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients.

Fokstuen S, Antonarakis SE, Blouin JL. Fokstuen S, et al. Among authors: blouin jl. Am J Med Genet A. 2003 Mar 1;117A(2):143-6. doi: 10.1002/ajmg.a.10024. Am J Med Genet A. 2003. PMID: 12567411

6

Next generation diagnostics on cardiomyopathy.

Blouin JL, Bevillard J, Makrythanasis P, Guipponi M, Santoni F, Antonarakis SE, Fokstuen S. Blouin JL, et al. Mol Cytogenet. 2014 Jan 21;7(Suppl 1 Proceedings of the International Conference on Human):I4. doi: 10.1186/1755-8166-7-S1-I4. eCollection 2014. Mol Cytogenet. 2014. PMID: 24949098 Free PMC article. No abstract available.

7

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: blouin jl. Am J Hum Genet. 1998 Dec;63(6):1641-50. doi: 10.1086/302159. Am J Hum Genet. 1998. PMID: 9837816 Free PMC article.

8

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.

Fokstuen S, Makrythanasis P, Hammar E, Guipponi M, Ranza E, Varvagiannis K, Santoni FA, Albarca-Aguilera M, Poleggi ME, Couchepin F, Brockmann C, Mauron A, Hurst SA, Moret C, Gehrig C, Vannier A, Bevillard J, Araud T, Gimelli S, Stathaki E, Paoloni-Giacobino A, Bottani A, Sloan-Béna F, Sizonenko LD, Mostafavi M, Hamamy H, Nouspikel T, Blouin JL, Antonarakis SE. Fokstuen S, et al. Among authors: blouin jl. Hum Genomics. 2016 Jun 28;10(1):24. doi: 10.1186/s40246-016-0080-4. Hum Genomics. 2016. PMID: 27353043 Free PMC article. Review.

9

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: blouin jl. 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.

10

Contamination of amniotic fluid with maternal balanced t(11;22) translocation cells.

Fokstuen S, Binkert F, Munoz A, Erb N, Dürig P, Altermatt HJ, Blouin JL, Kotzot D. Fokstuen S, et al. Among authors: blouin jl. Am J Med Genet A. 2013 May;161A(5):1101-4. doi: 10.1002/ajmg.a.35774. Epub 2013 Feb 26. Am J Med Genet A. 2013. PMID: 23444046 No abstract available.

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