Koenig M - Search Results

1

Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach.

Liautard-Haag C, Durif G, VanGoethem C, Baux D, Louis A, Cayrefourcq L, Lamairia M, Willems M, Zordan C, Dorian V, Rooryck C, Goizet C, Chaussenot A, Monteil L, Calvas P, Miry C, Favre R, Le Boette E, Fradin M, Roux AF, Cossée M, Koenig M, Alix-Panabière C, Guissart C, Vincent MC. Liautard-Haag C, et al. Among authors: koenig m. Sci Rep. 2022 Jul 6;12(1):11423. doi: 10.1038/s41598-022-15307-2. Sci Rep. 2022. PMID: 35794169 Free PMC article.

2

Clinical and genetic abnormalities in patients with Friedreich's ataxia.

Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, Mandel JL, Brice A, Koenig M. Dürr A, et al. Among authors: koenig m. N Engl J Med. 1996 Oct 17;335(16):1169-75. doi: 10.1056/NEJM199610173351601. N Engl J Med. 1996. PMID: 8815938 Free article.

3

Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.

Cossée M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, Mandel JL, Koenig M. Cossée M, et al. Among authors: koenig m. Proc Natl Acad Sci U S A. 1997 Jul 8;94(14):7452-7. doi: 10.1073/pnas.94.14.7452. Proc Natl Acad Sci U S A. 1997. PMID: 9207112 Free PMC article.

4

Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor.

Zühlke C, Laccone F, Cossée M, Kohlschütter A, Koenig M, Schwinger E. Zühlke C, et al. Among authors: koenig m. Hum Genet. 1998 Jul;103(1):102-5. doi: 10.1007/s004390050791. Hum Genet. 1998. PMID: 9737785

5

In utero fetal muscle biopsy: a precious aid for the prenatal diagnosis of Duchenne muscular dystrophy.

Heckel S, Favre R, Flori J, Koenig M, Mandel J, Gasser B, Chaigne D. Heckel S, et al. Among authors: koenig m. Fetal Diagn Ther. 1999 May-Jun;14(3):127-32. doi: 10.1159/000020905. Fetal Diagn Ther. 1999. PMID: 10364661 Review.

6

G130V, a common FRDA point mutation, appears to have arisen from a common founder.

Delatycki MB, Knight M, Koenig M, Cossée M, Williamson R, Forrest SM. Delatycki MB, et al. Among authors: koenig m. Hum Genet. 1999 Oct;105(4):343-6. doi: 10.1007/s004399900142. Hum Genet. 1999. PMID: 10543403

7

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.

Cossée M, Lagier-Tourenne C, Seguela C, Mohr M, Leturcq F, Gundesli H, Chelly J, Tranchant C, Koenig M, Mandel JL. Cossée M, et al. Among authors: koenig m. Neuromuscul Disord. 2009 Apr;19(4):255-60. doi: 10.1016/j.nmd.2009.02.003. Epub 2009 Mar 19. Neuromuscul Disord. 2009. PMID: 19303295

8

Exonic deletions of FXN and early-onset Friedreich ataxia.

Anheim M, Mariani LL, Calvas P, Cheuret E, Zagnoli F, Odent S, Seguela C, Marelli C, Fritsch M, Delaunoy JP, Brice A, Dürr A, Koenig M. Anheim M, et al. Among authors: koenig m. Arch Neurol. 2012 Jul;69(7):912-6. doi: 10.1001/archneurol.2011.834. Arch Neurol. 2012. PMID: 22409940

9

Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.

Guissart C, Li X, Leheup B, Drouot N, Montaut-Verient B, Raffo E, Jonveaux P, Roux AF, Claustres M, Fliegel L, Koenig M. Guissart C, et al. Among authors: koenig m. Hum Mol Genet. 2015 Jan 15;24(2):463-70. doi: 10.1093/hmg/ddu461. Epub 2014 Sep 8. Hum Mol Genet. 2015. PMID: 25205112

10

Non-invasive prenatal diagnosis of monogenic disorders: an optimized protocol using MEMO qPCR with miniSTR as internal control.

Guissart C, Debant V, Desgeorges M, Bareil C, Raynal C, Toga C, Pritchard V, Koenig M, Claustres M, Vincent MC. Guissart C, et al. Among authors: koenig m. Clin Chem Lab Med. 2015 Feb;53(2):205-15. doi: 10.1515/cclm-2014-0501. Clin Chem Lab Med. 2015. PMID: 25274949

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