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Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.
Laurent S, Gehrig C, Nouspikel T, Amr SS, Oza A, Murphy E, Vannier A, Béna FS, Carminho-Rodrigues MT, Blouin JL, Cao Van H, Abramowicz M, Paoloni-Giacobino A, Guipponi M. Laurent S, et al. Among authors: gehrig c. Hum Mutat. 2021 Apr;42(4):373-377. doi: 10.1002/humu.24167. Epub 2021 Mar 14. Hum Mutat. 2021. PMID: 33492714 Free PMC article.
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.
Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh L, Gehrig C, Hammar E, Guipponi M, Abramowicz M, Senn P, Guinand N, Cao-Van H, Paoloni-Giacobino A. Van Heurck R, et al. Among authors: gehrig c. Genes (Basel). 2021 Aug 20;12(8):1277. doi: 10.3390/genes12081277. Genes (Basel). 2021. PMID: 34440452 Free PMC article.
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: gehrig c. Hum Genomics. 2016 Jun 28;10(1):24. doi: 10.1186/s40246-016-0080-4. Hum Genomics. 2016. PMID: 27353043 Free PMC article. Review.
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, Guipponi M, Chantot S, Duquesnoy P, Thomas L, Jeanson L, Copin B, Tamalet A, Thauvin-Robinet C, Papon JF, Garin A, Pin I, Vera G, Aurora P, Fassad MR, Jenkins L, Boustred C, Cullup T, Dixon M, Onoufriadis A, Bush A, Chung EM, Antonarakis SE, Loebinger MR, Wilson R, Armengot M, Escudier E, Hogg C; UK10K Rare Group; Amselem S, Sun Z, Bartoloni L, Blouin JL, Mitchison HM. Olcese C, et al. Among authors: gehrig c. Nat Commun. 2017 Feb 8;8:14279. doi: 10.1038/ncomms14279. Nat Commun. 2017. PMID: 28176794 Free PMC article.
Galanin pathogenic mutations in temporal lobe epilepsy.
Guipponi M, Chentouf A, Webling KE, Freimann K, Crespel A, Nobile C, Lemke JR, Hansen J, Dorn T, Lesca G, Ryvlin P, Hirsch E, Rudolf G, Rosenberg DS, Weber Y, Becker F, Helbig I, Muhle H, Salzmann A, Chaouch M, Oubaiche ML, Ziglio S, Gehrig C, Santoni F, Pizzato M, Langel Ü, Antonarakis SE. Guipponi M, et al. Among authors: gehrig c. Hum Mol Genet. 2015 Jun 1;24(11):3082-91. doi: 10.1093/hmg/ddv060. Epub 2015 Feb 17. Hum Mol Genet. 2015. PMID: 25691535
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins.
Sailani MR, Santoni FA, Letourneau A, Borel C, Makrythanasis P, Hibaoui Y, Popadin K, Bonilla X, Guipponi M, Gehrig C, Vannier A, Carre-Pigeon F, Feki A, Nizetic D, Antonarakis SE. Sailani MR, et al. Among authors: gehrig c. PLoS One. 2015 Aug 28;10(8):e0135555. doi: 10.1371/journal.pone.0135555. eCollection 2015. PLoS One. 2015. PMID: 26317209 Free PMC article.
69 results