Blouin JL - Search Results

1

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

2

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

3

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.

4

Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE epsilon 4 carriers.

Gold G, Blouin JL, Herrmann FR, Michon A, Mulligan R, Duriaux Saïl G, Bouras C, Giannakopoulos P, Antonarakis SE. Gold G, et al. Among authors: blouin jl. Am J Med Genet B Neuropsychiatr Genet. 2003 May 15;119B(1):44-7. doi: 10.1002/ajmg.b.10010. Am J Med Genet B Neuropsychiatr Genet. 2003. PMID: 12707937

5

Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region.

Lyle R, Radhakrishna U, Blouin JL, Gagos S, Everman DB, Gehrig C, Delozier-Blanchet C, Solanki JV, Patel UC, Nath SK, Gurrieri F, Neri G, Schwartz CE, Antonarakis SE. Lyle R, et al. Among authors: blouin jl. Am J Med Genet A. 2006 Jul 1;140(13):1384-95. doi: 10.1002/ajmg.a.31247. Am J Med Genet A. 2006. PMID: 16691619

6

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

7

Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events.

Dahoun S, Gagos S, Gagnebin M, Gehrig C, Burgi C, Simon F, Vieux C, Extermann P, Lyle R, Morris MA, Antonarakis SE, Béna F, Blouin JL. Dahoun S, et al. Among authors: blouin jl. Am J Med Genet A. 2008 Aug 15;146A(16):2086-93. doi: 10.1002/ajmg.a.32431. Am J Med Genet A. 2008. PMID: 18627064

8

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

9

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.

10

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. Cytogenet Cell Genet. 2000;90(1-2):119-22. doi: 10.1159/000015645. Cytogenet Cell Genet. 2000. PMID: 11060460

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