Publications by authors named "Isabelle Perrault"

47Publications

Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss.

Adv Exp Med Biol 2019 ;1185:233-238

Laboratory of Genetics in Ophthalmology, Imagine Institute, Paris Descartes, Sorbonne Paris Cité University, Paris, France.

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http://dx.doi.org/10.1007/978-3-030-27378-1_38DOI Listing
February 2020

Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing.

Adv Exp Med Biol 2019 ;1185:189-195

Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, Paris, France.

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http://dx.doi.org/10.1007/978-3-030-27378-1_31DOI Listing
February 2020

AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent c.4723A > T Mutation. Fact or Fiction?

Genes (Basel) 2019 05 14;10(5). Epub 2019 May 14.

Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, 75015 Paris, France.

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http://dx.doi.org/10.3390/genes10050368DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562928PMC
May 2019

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi.

Nat Commun 2016 11 24;7:13586. Epub 2016 Nov 24.

Medical Genetics Laboratory, INSERM U1112, Institute of Medical Genetics of Alsace, University of Strasbourg, Strasbourg Medical School, 67000 Strasbourg, France.

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http://dx.doi.org/10.1038/ncomms13586DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123056PMC
November 2016

LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13.

Retin Cases Brief Rep 2017 Summer;11(3):221-226

*Maladies Sensorielles Génétiques, CHRU, Montpellier, France; †INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France; ‡Université Montpellier, Montpellier, France; §Laboratory of Genetics in Ophthalmology, INSERM UMR 1163, Paris, France; and ¶Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.

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http://dx.doi.org/10.1097/ICB.0000000000000326DOI Listing
January 2018

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

Invest Ophthalmol Vis Sci 2016 Mar;57(3):1053-62

University College London Institute of Ophthalmology, London, United Kingdom 2Moorfields Eye Hospital, London, United Kingdom 12Ophthalmology, University of California, San Francisco, California, United States.

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http://dx.doi.org/10.1167/iovs.15-17976DOI Listing
March 2016

Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells.

Mol Ther Nucleic Acids 2015 Sep 1;4:e250. Epub 2015 Sep 1.

Laboratory of Genetics in Ophthalmology, Inserm UMR1163, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker, Paris, France.

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http://dx.doi.org/10.1038/mtna.2015.24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4877449PMC
September 2015

Longitudinal burn scar quantification.

Burns 2014 Dec 2;40(8):1504-12. Epub 2014 Apr 2.

Centre de recherche du Centre Hospitalier de l'Université de Montréal (CHUM), Canada.

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http://dx.doi.org/10.1016/j.burns.2014.03.002DOI Listing
December 2014

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.

Biochim Biophys Acta 2013 Jun 13;1830(6):3719-33. Epub 2013 Mar 13.

Départment de Génétique, Fondation Imagine, Université Paris Descartes-Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1016/j.bbagen.2013.02.025DOI Listing
June 2013

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.

Mol Ther Nucleic Acids 2012 Jun 26;1:e29. Epub 2012 Jun 26.

1] Genethon, Evry, France [2] CNRS UMR 8151-Inserm U1022, Université Paris Descarte-Sorbonne Paris Cité, Chimie-Paristech, Paris, France.

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http://dx.doi.org/10.1038/mtna.2012.21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3390222PMC
June 2012

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Hum Mutat 2010 Mar;31(3):E1241-50

Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement, INSERM U781 and Université Paris Descartes, CHU Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/humu.21203DOI Listing
March 2010

Expanding CEP290 mutational spectrum in ciliopathies.

Authors:
Lorena Travaglini Francesco Brancati Tania Attie-Bitach Sophie Audollent Enrico Bertini Josseline Kaplan Isabelle Perrault Miriam Iannicelli Brunella Mancuso Luciana Rigoli Jean-Michel Rozet Dominika Swistun Jerlyn Tolentino Bruno Dallapiccola Joseph G Gleeson Enza Maria Valente A Zankl R Leventer P Grattan-Smith A Janecke M D'Hooghe Y Sznajer R Van Coster L Demerleir K Dias C Moco A Moreira C Ae Kim G Maegawa D Petkovic G M H Abdel-Salam A Abdel-Aleem M S Zaki I Marti S Quijano-Roy S Sigaudy P de Lonlay S Romano R Touraine M Koenig C Lagier-Tourenne J Messer P Collignon N Wolf H Philippi S Kitsiou Tzeli S Halldorsson J Johannsdottir P Ludvigsson S R Phadke V Udani B Stuart A Magee D Lev M Michelson B Ben-Zeev R Fischetto F Benedicenti F Stanzial R Borgatti P Accorsi S Battaglia E Fazzi L Giordano L Pinelli L Boccone S Bigoni A Ferlini M A Donati G Caridi M T Divizia F Faravelli G Ghiggeri A Pessagno M Briguglio S Briuglia C D Salpietro G Tortorella A Adami P Castorina F Lalatta G Marra D Riva B Scelsa L Spaccini G Uziel E Del Giudice A M Laverda K Ludwig A Permunian A Suppiej S Signorini C Uggetti R Battini M Di Giacomo M R Cilio M L Di Sabato V Leuzzi P Parisi M Pollazzon M Silengo R De Vescovi D Greco C Romano M Cazzagon A Simonati A A Al-Tawari L Bastaki A Mégarbané V Sabolic Avramovska M M de Jong P Stromme R Koul A Rajab M Azam C Barbot L Martorell Sampol B Rodriguez I Pascual-Castroviejo S Teber B Anlar S Comu E Karaca H Kayserili A Yüksel M Akcakus L Al Gazali L Sztriha D Nicholl C G Woods C Bennett J Hurst E Sheridan A Barnicoat R Hennekam M Lees E Blair S Bernes H Sanchez A E Clark E DeMarco C Donahue E Sherr J Hahn T D Sanger T E Gallager W B Dobyns C Daugherty K S Krishnamoorthy D Sarco C A Walsh T McKanna J Milisa W K Chung D C De Vivo H Raynes R Schubert A Seward D G Brooks A Goldstein J Caldwell E Finsecke B L Maria K Holden R P Cruse K J Swoboda D Viskochil

Am J Med Genet A 2009 Oct;149A(10):2173-80

CSS-Mendel Institute, Casa Sollievo della Sofferenza Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4340070PMC
October 2009

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

Hum Mutat 2007 Dec;28(12):1245

INSERM U781 et Service de Génétique, Hôpital des Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.

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http://dx.doi.org/10.1002/humu.9513DOI Listing
December 2007

Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example.

Eur J Hum Genet 2008 Jan 8;16(1):115-23. Epub 2007 Aug 8.

Unité de Recherches sur les Handicaps Génétiques de l'Enfant. Hôpital Necker - Enfants Malades, Paris, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201905DOI Listing
January 2008

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Hum Mutat 2007 Apr;28(4):416

Unité de Recherches en Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement, INSERM U78, Hôpital des Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/humu.9485DOI Listing
April 2007

Leber congenital amaurosis: survey of the genetic heterogeneity, refinement of the clinical definition and phenotype-genotype correlations as a strategy for molecular diagnosis. Clinical and molecular survey in LCA.

Adv Exp Med Biol 2006 ;572:15-20

Unitè de Recherches sur les Handicaps Génétiques de l'Enfant, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris, France.

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http://dx.doi.org/10.1007/0-387-32442-9_3DOI Listing
April 2007

Reduced levels of VEGF-A and MMP-2 and MMP-9 activity and increased TNF-alpha in menstrual endometrium and effluent in women with menorrhagia.

Hum Reprod 2006 Aug 3;21(8):2158-66. Epub 2006 Apr 3.

Department of Obstetrics and Gynaecology, The Rosie Hospital, Robinson Way, Cambridge, UK.

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http://dx.doi.org/10.1093/humrep/del089DOI Listing
August 2006

Menstrual effluent in endometriosis shows no difference in volume, VEGF-A, MMP2 and MMP9 or sFLT.

Reprod Biomed Online 2006 Feb;12(2):174-81

Reproductive Medicine Unit, The Elizabeth Garrett Anderson and Obstetric Hospital, Huntley Street, London, WCIE 6DH, UK.

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http://dx.doi.org/10.1016/s1472-6483(10)60858-9DOI Listing
February 2006

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.

Invest Ophthalmol Vis Sci 2005 Sep;46(9):3052-9

Department of Ophthalmology, Eye Institute Research, Columbia University, 630 West 168th Street, New York, NY 10032, USA.

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http://dx.doi.org/10.1167/iovs.05-0111DOI Listing
September 2005

A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype.

Hum Mutat 2005 Feb;25(2):222

Unité de Recherches sur les Handicaps Génétiques de l'Enfant, Hôpital Necker - Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.

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http://dx.doi.org/10.1002/humu.9304DOI Listing
February 2005

Prenatal human ocular degeneration occurs in Leber's Congenital Amaurosis (LCA1 and 2).

Adv Exp Med Biol 2003 ;533:59-68

Laboratoire de Physiopathologie Cellulaire et Moléculaire de la Rétine, France.

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August 2004

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q.

Eur J Hum Genet 2003 Dec;11(12):966-71

Unité de Recherches sur les Handicaps, Génétiques de l'Enfant, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201070DOI Listing
December 2003

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.

Hum Mutat 2002 Oct;20(4):322-3

Unité de Recherches sur les Handicaps Génétiques de l'Enfant. Hôpital Necker - Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.

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http://doi.wiley.com/10.1002/humu.9067
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http://dx.doi.org/10.1002/humu.9067DOI Listing
October 2002

Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2).

J Gene Med 2002 Jul-Aug;4(4):390-6

Laboratoire de Physiopathologie Cellulaire et Moléculaire de la Rétine, INSERM Université Louis Pasteur EMI 9918, Clinique Médicale A, CHUR Strasbourg, BP. 426, 1 Place de l'Hôpital, 67091 Strasbourg Cedex, France.

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http://dx.doi.org/10.1002/jgm.278DOI Listing
January 2003