Publications by authors named "Audrey Briand-Suleau"

17Publications

FSHD1 and FSHD2 form a disease continuum.

Neurology 2019 05 12;92(19):e2273-e2285. Epub 2019 Apr 12.

From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000007456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537132PMC
May 2019

Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumors.

Genes Chromosomes Cancer 2017 05 7;56(5):421-426. Epub 2017 Mar 7.

Institute of Cancer and Genetics, Cardiff University, UK.

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http://dx.doi.org/10.1002/gcc.22446DOI Listing
May 2017

Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities.

Orphanet J Rare Dis 2016 07 22;11(1):101. Epub 2016 Jul 22.

Service de Génétique et Biologie Moléculaires, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris (AP-HP), Bâtiment Jean Dausset, 3ème étage, 27 rue du Faubourg Saint Jacques, Paris, France.

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http://dx.doi.org/10.1186/s13023-016-0479-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4957908PMC
July 2016

Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataracts.

Eur J Med Genet 2015 Nov 16;58(11):591-6. Epub 2015 Sep 16.

Service d'Histologie-Embryologie-Cytogénétique, Hôpitaux Universitaires Paris-Sud, Site Antoine Béclère, APHP, Clamart, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.09.006DOI Listing
November 2015

Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestations.

Eur J Med Genet 2015 Sep 8;58(9):497-501. Epub 2015 Jul 8.

AP-HP, Service d'Histologie, Embryologie et Cytogénétique, Hôpital Antoine Béclère, Clamart, France; AP-HP, Service de Biochimie-Génétique, Plateforme de Génétique Constitutionnelle, Hôpital H. Mondor, Créteil, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.07.001DOI Listing
September 2015

Sub1 and Maf1, two effectors of RNA polymerase III, are involved in the yeast quiescence cycle.

PLoS One 2014 22;9(12):e114587. Epub 2014 Dec 22.

iBiTec-S CEA, FRE3377, Gif-sur-Yvette, France; CNRS, FRE3377, Gif-sur-Yvette, France; Université Paris-Sud, FRE3377, Gif-sur-Yvette, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0114587PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4273968PMC
August 2015

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

Eur J Hum Genet 2015 May 30;23(5):596-601. Epub 2014 Jul 30.

1] Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris, France [2] EA7331, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2014.145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402624PMC
May 2015