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1789 results found for your search

  • MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

    Jeanne Amiel, Chris Gordon, Stanislas Lyonnet, Patrick Nitschké, Loïc de Pontual, Damien Bonnet, Anne Guimier

    Source :

    Nat. Genet.

    2016 Mar 7

    Pmid / DOI:

    26437028

  • Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.

    Jeanne Amiel, Stanislas Lyonnet, Patrick Nitschké, Chris Gordon

    Source :

    Am. J. Hum. Genet.

    2015 May 29

    Pmid / DOI:

    25772936

  • Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

    Jeanne Amiel, Stanislas Lyonnet, Patrick Nitschké, Chris Gordon

    Source :

    Am. J. Hum. Genet.

    2014 Feb 12

    Pmid / DOI:

    24268655

  • EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.

    Jeanne Amiel, Stanislas Lyonnet, Loïc de Pontual, Sandrine Marlin, Chris Gordon

    Source :

    J. Med. Genet.

    2013 Jun 13

    Pmid / DOI:

    23188108

  • Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans.

    Jeanne Amiel

    Source :

    Nat. Genet.

    2011 Nov 21

    Pmid / DOI:

    21892160

  • Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.

    Jeanne Amiel

    Source :

    Proc. Natl. Acad. Sci. U.S.A.

    2009 Oct 8

    Pmid / DOI:

    19666486

  • Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

    Stanislas Lyonnet, Sabina Benko, Jeanne Amiel, Sophie Thomas, Anna Pelet, Chris Gordon

    Source :

    Nat. Genet.

    2009 Apr 2

    Pmid / DOI:

    19234473

  • Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma.

    Jeanne Amiel

    Source :

    Nature

    2008 Nov 18

    Pmid / DOI:

    18923523

  • Annarita Miccio dans son laboratoire

    Research Acceleration

      Portrait
      Hematology

    Annarita Miccio: Gene therapy as a common thread

  • Overall Survival with Ribociclib plus Fulvestrant in Advanced Breast Cancer.

    Source :

    N. Engl. J. Med.

    2019 Dec 11

    Pmid / DOI:

    31826360

  • Imagine Institute

    Public Contract

  • Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.

    Jean-Laurent CASANOVA

    Source :

    Proc. Natl. Acad. Sci. U.S.A.

    2019 Nov 8

    Pmid / DOI:

    31484767