Publications by authors named "Florence Niel"

13Publications

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

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

Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy.

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

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

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

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

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

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

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