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Closing the tau loop: the missing tau mutation.
Published in:
2015
By:
- McCarthy, Allan;
- Lonergan, Roisin;
- Olszewska, Diana A.;
- O'Dowd, Sean;
- Cummins, Gemma;
- Magennis, Brian;
- Fallon, Emer M.;
- Pender, Niall;
- Huey, Edward D.;
- Cosentino, Stephanie;
- O'Rourke, Killian;
- Kelly, Brendan D.;
- O'Connell, Martin;
- Delon, Isabelle;
- Farrell, Michael;
- Spillantini, Maria Grazia;
- Rowland, Lewis P.;
- Fahn, Stanley;
- Craig, Peter;
- Hutton, Michael
Publication type:
journal article
Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1931, doi. 10.1002/ajmg.a.38261
By:
- Hague, Jennifer;
- Delon, Isabelle;
- Brugger, Kim;
- Martin, Howard;
- Sparnon, Leanne;
- Simonic, Ingrid;
- Abbs, Stephen;
- Park, Soo‐Mi
Publication type:
Article
Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1608, doi. 10.1002/ajmg.a.37631
By:
- Hague, Jennifer;
- Delon, Isabelle;
- Brugger, Kim;
- Martin, Howard;
- Abbs, Stephen;
- Park, Soo‐Mi
Publication type:
Article
Functional polarization of the Escherichia coli chromosome terminus: the dif site acts in chromosome dimer resolution only when located between long stretches of opposite polarity.
Published in:
Molecular Microbiology, 2000, v. 36, n. 1, p. 33, doi. 10.1046/j.1365-2958.2000.01847.x
By:
- Pérals, Koryn;
- Cornet, François;
- Merlet, Yann;
- Delon, Isabelle;
- Louarn, Jean-Michel
Publication type:
Article
Morphological evolution through multiple cis-regulatory mutations at a single gene.
Published in:
2007
By:
- McGregor, Alistair P.;
- Orgogozo, Virginie;
- Delon, Isabelle;
- Zanet, Jennifer;
- Srinivasan, Dayalan G.;
- Payre, François;
- Stern, David L.
Publication type:
Letter
Dmoesin controls actin-based cell shape and polarity during Drosophila melanogaster oogenesis.
Published in:
Nature Cell Biology, 2002, v. 4, n. 10, p. 782, doi. 10.1038/ncb856
By:
- Polesello, Cedric;
- Delon, Isabelle;
- Valenti, Philippe;
- Ferrer, Pierre;
- Payre, Francois
Publication type:
Article
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
Published in:
2019
By:
- French, Courtney E.;
- Delon, Isabelle;
- Dolling, Helen;
- Sanchis-Juan, Alba;
- Shamardina, Olga;
- Mégy, Karyn;
- Abbs, Stephen;
- Austin, Topun;
- Bowdin, Sarah;
- Branco, Ricardo G.;
- Firth, Helen;
- Rowitch, David H.;
- Raymond, F. Lucy;
- NIHR BioResource—Rare Disease;
- Next Generation Children Project
Publication type:
journal article
Regulatory evolution of shavenbaby/ovo underlies multiple cases of morphological parallelism.
Published in:
Nature, 2003, v. 424, n. 6951, p. 935, doi. 10.1038/nature01768
By:
- Sucena, Eiio;
- Delon, Isabelle;
- Jones, Isaac;
- Payre, François;
- Stern, David L.
Publication type:
Article
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.
Published in:
Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0606-6
By:
- Sanchis-Juan, Alba;
- Stephens, Jonathan;
- Gleadall, Nicholas;
- Mégy, Karyn;
- Penkett, Christopher;
- Shamardina, Olga;
- Stirrups, Kathleen;
- Dewhurst, Eleanor;
- Dolling, Helen;
- Erwood, Marie;
- Ouwehand, Willem H.;
- Carss, Keren J.;
- Stefanucci, Luca;
- Cole, Trevor;
- Raymond, F. Lucy;
- French, Courtney E.;
- Delon, Isabelle;
- Austin, Topun;
- Branco, Ricardo Garcia;
- Grozeva, Detelina
Publication type:
Article

Found: 9