Publications by authors named "Florence Niel"

13Publications

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.

Authors:
Claudia Braida Rhoda K A Stefanatos Berit Adam Navdeep Mahajan Hubert J M Smeets Florence Niel Cyril Goizet Benoit Arveiler Michel Koenig Clotilde Lagier-Tourenne Jean-Louis Mandel Catharina G Faber Christine E M de Die-Smulders Frank Spaans Darren G Monckton

Hum Mol Genet 2010 Apr 15;19(8):1399-412. Epub 2010 Jan 15.

Molecular Genetics, Faculty of Biomedical and Life Sciences, University of Glasgow, University Avenue, Glasgow G12 8QQ, UK.

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April 2010

Intra-familial phenotypic heterogeneity in adult onset vanishing white matter disease.

Authors:
Nathalie Damon-Perriere Patrice Menegon Anne Olivier Odile Boespflug-Tanguy Florence Niel Isabelle Creveaux Vincent Dousset Bruno Brochet Cyril Goizet

Clin Neurol Neurosurg 2008 Dec 8;110(10):1068-71. Epub 2008 Oct 8.

CHU Bordeaux, Fédération des Neurosciences Cliniques, Hôpital Pellegrin, 33076 Bordeaux, France.

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December 2008

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

Authors:
Marijke Bauters Hilde Van Esch Michael J Friez Odile Boespflug-Tanguy Martin Zenker Angela M Vianna-Morgante Carla Rosenberg Jaakko Ignatius Martine Raynaud Karen Hollanders Karen Govaerts Kris Vandenreijt Florence Niel Pierre Blanc Roger E Stevenson Jean-Pierre Fryns Peter Marynen Charles E Schwartz Guy Froyen

Genome Res 2008 Jun 2;18(6):847-58. Epub 2008 Apr 2.

Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, B-3000 Leuven, Belgium.

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June 2008

Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy.

Authors:
An C Jansen Eva Andermann Florence Niel Isabelle Creveaux Odile Boespflug-Tanguy Frederick Andermann

Epilepsia 2008 May 7;49(5):910-3. Epub 2008 Feb 7.

Neurogenetics Unit, Montreal Neurological Hospital and Institute, Montreal, Canada.

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May 2008

Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.

Authors:
Ilham Ratbi Marie Legendre Florence Niel Josiane Martin Jean-Claude Soufir Vincent Izard Bruno Costes Catherine Costa Michel Goossens Emmanuelle Girodon

Hum Reprod 2007 May 28;22(5):1285-91. Epub 2007 Feb 28.

Service de Biochimie et Génétique Moléculaire, AP-HP et INSERM U841, IMRB, eq 21, Hôpital Henri-Mondor, Créteil, France.

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May 2007

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

Authors:
Florence Dastot-Le Moal Meredith Wilson David Mowat Nathalie Collot Florence Niel Michel Goossens

Hum Mutat 2007 Apr;28(4):313-21

INSERM, U654, Université Paris 12, IFR10-IM3, AP-HP, Groupe Hospitalier Henri Mondor-Albert Chenevier, Service de Biochimie et Génétique, Hôpital Henri Mondor, Créteil, France.

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April 2007

Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family.

Authors:
Christine Deffert Florence Niel Fanny Mochel Catherine Barrey Claudia Romana Eric Souied Corinne Stoetzel Michel Goossens Helene Dollfus Alain Verloes Emmanuelle Girodon Marion Gerard-Blanluet

Am J Med Genet A 2007 Jan;143A(2):208-13

Molecular genetics laboratory, Hôpital Henri Mondor, Créteil, AP-HP, France.

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January 2007

Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.

Authors:
Sophie Valleix Florence Niel Brigitte Nedelec Marie-Paule Algros Claire Schwartz Bernard Delbosc Marc Delpech Bernadette Kantelip

Am J Hum Genet 2006 Aug 8;79(2):358-64. Epub 2006 Jun 8.

Laboratoire de Biochimie et Genetique Moleculaire, Hopital Cochin, 123 Boulevard de Port-Royal, 75014 Paris, France.

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August 2006

Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies.

Authors:
Takuro Arimura Anne Helbling-Leclerc Catherine Massart Shaida Varnous Florence Niel Emmanuelle Lacène Yves Fromes Marcel Toussaint Anne-Marie Mura Dagmar I Keller Helge Amthor Richard Isnard Marie Malissen Ketty Schwartz Gisèle Bonne

Hum Mol Genet 2005 Jan 17;14(1):155-69. Epub 2004 Nov 17.

Inserm UR582, Institut de Myologie, GH Pitié-Salpêtrière, Paris, France.

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January 2005

Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens.

Authors:
Ana Grangeia Florence Niel Filipa Carvalho Susana Fernandes Azarnouche Ardalan Emmanuelle Girodon Joaquina Silva Luis Ferrás Mário Sousa Alberto Barros

Hum Reprod 2004 Nov 27;19(11):2502-8. Epub 2004 Aug 27.

Department of Genetics, Faculty of Medicine, Laboratory of Cell Biology, ICBAS, University of Porto, Centre for Reproductive Genetics Alberto Barros, Porto, Portugal.

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November 2004

Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations.

Authors:
Dimitri Tchernitchko Marie Legendre Andrée Delahaye Cécile Cazeneuve Florence Niel Michel Goossens Serge Amselem Emmanuelle Girodon

Clin Chem 2003 Nov;49(11):1942-5

Service de Biochimie et de Génétique Moléculaire, Hôpital Henri Mondor, AP-HP, 94010 Créteil, France.

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November 2003

The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever.

Authors:
Dimitri Tchernitchko Marie Legendre Cécile Cazeneuve Andrée Delahaye Florence Niel Serge Amselem

Hum Mutat 2003 Oct;22(4):339-40

Service de Biochimie, hôpital Henri-Mondor, Créteil, France.

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October 2003

Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy.

Authors:
Florence Niel Pierre Ellies Paul Dighiero Jeannette Soria Celia Sabbagh Chankannira San Gilles Renard Marc Delpech Sophie Valleix

Invest Ophthalmol Vis Sci 2003 Jul;44(7):2949-53

Laboratory of Biochemistry and Molecular Genetics, Hospital, Cochin, Paris, France.

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July 2003