Benoit Arveiler

Benoit Arveiler

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Benoit Arveiler

Publications by authors named "Benoit Arveiler"

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Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism.

Ophthalmic Genet 2019 Apr 3;40(2):161-164. Epub 2019 Apr 3.

a Service de Génétique Médicale , CHU de Bordeaux , Bordeaux , France.

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http://dx.doi.org/10.1080/13816810.2019.1592201DOI Listing
April 2019

Molecular characterization of a series of 990 index patients with albinism.

Pigment Cell Melanoma Res 2018 07 14;31(4):466-474. Epub 2018 Feb 14.

Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1111/pcmr.12688DOI Listing
July 2018

[Genomics in service delivery in France].

Authors:
Benoît Arveiler

Med Sci (Paris) 2018 May 18;34 Hors série n°1:41-42. Epub 2018 Jun 18.

Professeur des universités-Praticien Hospitalier, Responsable du Laboratoire de génétique moléculaire, CHU de Bordeaux-GH Pellegrin, Place Amélie Raba-Léon, 33076 Bordeaux Cedex, France.

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http://dx.doi.org/10.1051/medsci/201834s122DOI Listing
May 2018

Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting.

Pigment Cell Melanoma Res 2018 03 21;31(2):318-329. Epub 2017 Oct 21.

Paediatric Dermatology Unit, National Reference Center for Rare Skin Disorders, Hôpital Pellegrin-Enfants, Bordeaux University Hospitals, Bordeaux, France.

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http://dx.doi.org/10.1111/pcmr.12651DOI Listing
March 2018

A novel de novo mutation in MYT1, the unique OAVS gene identified so far.

Eur J Hum Genet 2017 09 14;25(9):1083-1086. Epub 2017 Jun 14.

Laboratoire Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, University Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1038/ejhg.2017.101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558169PMC
September 2017

[Clinical and genetic aspects of albinism].

Presse Med 2017 Jul - Aug;46(7-8 Pt 1):648-654. Epub 2017 Jul 19.

CHU de Bordeaux, service de dermatologie, 33076 Bordeaux, France.

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https://linkinghub.elsevier.com/retrieve/pii/S07554982173025
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http://dx.doi.org/10.1016/j.lpm.2017.05.020DOI Listing
September 2017

Typical facial gestalt in X-linked Kabuki syndrome.

Am J Med Genet A 2016 12 2;170(12):3363-3364. Epub 2016 Aug 2.

CHU de Bordeaux, Service de Génétique Médicale, Hôpital Pellegrin, Bordeaux, France.

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http://dx.doi.org/10.1002/ajmg.a.37864DOI Listing
December 2016

Mutations in , encoding the myelin transcription factor 1, are a rare cause of OAVS.

J Med Genet 2016 Nov 29;53(11):752-760. Epub 2016 Jun 29.

University of Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, Bordeaux, France.

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http://dx.doi.org/10.1136/jmedgenet-2016-103774DOI Listing
November 2016

Primary leptomeningeal melanocytic tumour with a plaque-like blue nevus in a patient with ocular albinism.

Eur J Dermatol 2016 Oct;26(5):496-498

Department of Biopathology, University Hospital, 80 av Augustin Fliche, 34295 Montpellier Cedex 5,, Tumorotheque of Biopathology, University Hospital, 80 av Augustin Fliche, 34295, Montpellier Cedex 5, France.

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http://dx.doi.org/10.1684/ejd.2016.2828DOI Listing
October 2016

Albinism in a patient with mutations at both the OA1 and OCA3 loci.

Pigment Cell Melanoma Res 2016 Jan 24;29(1):107-9. Epub 2015 Oct 24.

Maladies Rares: Génétique et Métabolisme (MRGM) EA4576, University Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1111/pcmr.12408DOI Listing
January 2016

SCA27 is a cause of early-onset ataxia and developmental delay.

Eur J Paediatr Neurol 2015 Mar 5;19(2):271-3. Epub 2014 Dec 5.

CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France; Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), EA 4576 Bordeaux, France.

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http://dx.doi.org/10.1016/j.ejpn.2014.11.013DOI Listing
March 2015

Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome.

Eur J Hum Genet 2015 Feb 11;23(2):252-5. Epub 2014 Jun 11.

1] Centre de Physiopathologie de Toulouse-Purpan, INSERM UMR 1043; CNRS UMR 5282, Université Paul Sabatier, Toulouse, France [2] Centre de Référence du Syndrome de Prader-Willi, Toulouse, France [3] Unité d'Endocrinologie, Hôpital des Enfants, CHU de Toulouse, Toulouse, France.

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http://dx.doi.org/10.1038/ejhg.2014.103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297892PMC
February 2015

Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review.

Pediatr Dermatol 2013 Nov-Dec;30(6):665-73

Pediatric Dermatology Unit, Department of Dermatology, National Reference Centre for Rare Skin Disorders, Bordeaux, France; Department of Clinical Genetics, Bordeaux Children's Hospital, CHU de Bordeaux, Bordeaux, France.

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http://doi.wiley.com/10.1111/pde.12171
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http://dx.doi.org/10.1111/pde.12171DOI Listing
August 2014

A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies.

Parkinsonism Relat Disord 2014 Aug 9;20(8):935-7. Epub 2014 May 9.

Service de génétique médicale, CHU de Bordeaux, Hôpital Pellegrin, Bordeaux, France; Laboratoire MRGM: Maladies Rares, Génétique et Métabolisme, Université de Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1016/j.parkreldis.2014.04.026DOI Listing
August 2014

Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication.

Mol Genet Metab 2013 Sep-Oct;110(1-2):90-7. Epub 2013 Jul 20.

CHU Bordeaux, Service de Génétique Médicale, Place Amélie Raba Léon, Bordeaux, France.

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http://dx.doi.org/10.1016/j.ymgme.2013.07.013DOI Listing
March 2014

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

J Invest Dermatol 2014 Feb 28;134(2):568-571. Epub 2013 Aug 28.

Maladies Rares: Génétique et Métabolisme (MRGM), University Bordeaux, Bordeaux, France; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France. Electronic address:

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http://dx.doi.org/10.1038/jid.2013.360DOI Listing
February 2014

Increasing the complexity: new genes and new types of albinism.

Pigment Cell Melanoma Res 2014 Jan 17;27(1):11-8. Epub 2013 Oct 17.

Department of Molecular and Cellular Biology, National Centre for Biotechnology (CNB-CSIC), Campus de Cantoblanco, Madrid, Spain; CIBERER, ISCIII, Madrid, Spain.

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http://doi.wiley.com/10.1111/pcmr.12167
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http://dx.doi.org/10.1111/pcmr.12167DOI Listing
January 2014

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.

Pigment Cell Melanoma Res 2014 Jan 23;27(1):59-71. Epub 2013 Oct 23.

Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France; Maladies Rares: Génétique et Métabolisme (MRGM) EA4576, Univ. Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1111/pcmr.12173DOI Listing
January 2014

Prenatal diagnosis using array-CGH: a French experience.

Eur J Med Genet 2013 Jul 20;56(7):341-5. Epub 2013 Feb 20.

CHU Bordeaux, Génétique médicale, F-33000 Bordeaux, France.

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http://dx.doi.org/10.1016/j.ejmg.2013.02.003DOI Listing
July 2013

Germline mosaicism in Rubinstein-Taybi syndrome.

Gene 2013 Apr 23;518(2):476-8. Epub 2013 Jan 23.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohamed V Souissi, Rabat, Maroc.

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https://linkinghub.elsevier.com/retrieve/pii/S03781119130004
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http://dx.doi.org/10.1016/j.gene.2012.12.105DOI Listing
April 2013

[Costello syndrome: report of a case].

Pan Afr Med J 2012 4;12:64. Epub 2012 Jul 4.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohamed V Souissi, Rabat, Maroc.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3450926PMC
March 2013

Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.

Eur J Med Genet 2012 May 8;55(5):313-8. Epub 2012 Feb 8.

CHU Bordeaux, Centre de référence des anomalies du développement embryonnaire, Service de Génétique Médicale, Bordeaux, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.01.018DOI Listing
May 2012

1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.

Eur J Med Genet 2012 Feb 3;55(2):135-9. Epub 2011 Dec 3.

CHU Bordeaux, Department of Medical Genetics, Bordeaux, France.

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http://dx.doi.org/10.1016/j.ejmg.2011.11.006DOI Listing
February 2012

Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?

Eur J Med Genet 2012 Feb 5;55(2):151-5. Epub 2012 Jan 5.

CHU Bordeaux, Hôpital Pellegrin, Service de Génétique Médicale, Centre de Référence des Anomalies du Développement Embryonnaire, 33076 Bordeaux cedex, France.

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http://linkinghub.elsevier.com/retrieve/pii/S176972121200002
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http://dx.doi.org/10.1016/j.ejmg.2011.12.009DOI Listing
February 2012

A 17q12 chromosomal duplication associated with renal disease and esophageal atresia.

Eur J Med Genet 2011 Jul-Aug;54(4):e437-40. Epub 2011 Apr 19.

Nephrology and Immunology Department, University Hospital of Rangueil, Toulouse, France.

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http://dx.doi.org/10.1016/j.ejmg.2011.03.010DOI Listing
October 2011

An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman.

Eur J Med Genet 2011 May-Jun;54(3):292-4. Epub 2011 Jan 5.

Laboratoire de Cytogénétique, Service de Génétique Médicale, Hôpital Pellegrin (Maternité), CHU de Bordeaux, France.

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http://dx.doi.org/10.1016/j.ejmg.2010.12.005DOI Listing
September 2011

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

Brachydactyly type A1 with short humerus and associated skeletal features.

Am J Med Genet A 2010 Dec;152A(12):3016-21

Department Genetics, CHU Bordeaux, Université Bordeaux 2, Bordeaux Cedex, France.

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http://dx.doi.org/10.1002/ajmg.a.33761DOI Listing
December 2010

Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum.

Am J Med Genet A 2010 Aug;152A(8):1984-9

Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, Bordeaux, France.

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http://doi.wiley.com/10.1002/ajmg.a.33491
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http://dx.doi.org/10.1002/ajmg.a.33491DOI Listing
August 2010

Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum.

Eur J Med Genet 2010 Mar-Apr;53(2):104-7. Epub 2010 Feb 2.

Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, France.

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http://dx.doi.org/10.1016/j.ejmg.2010.01.003DOI Listing
July 2010

2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene.

Eur J Med Genet 2009 Nov-Dec;52(6):446-9. Epub 2009 Sep 3.

Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, France.

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http://dx.doi.org/10.1016/j.ejmg.2009.08.005DOI Listing
February 2010

Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome.

J Autism Dev Disord 2009 Sep 7;39(9):1252-60. Epub 2009 Apr 7.

Child Psychiatry Department, Centre Hospitalier Charles-Perrens, University Victor Segalen, Bordeaux 2, France.

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http://dx.doi.org/10.1007/s10803-009-0733-4DOI Listing
September 2009

Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients.

Eur J Hum Genet 2007 Aug 2;15(8):843-7. Epub 2007 May 2.

Laboratoire de Génétique Humaine, Développement et Cancer (EA 3669), Université Victor Segalen Bordeaux 2, Bordeaux, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201847DOI Listing
August 2007

COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.

Ann Neurol 2007 Aug;62(2):177-84

Centre Hospitalier Universitaire Bordeaux, Fédération des Neurosciences Cliniques, Hôpital Pellegrin, Bordeaux, France.

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http://doi.wiley.com/10.1002/ana.21191
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http://dx.doi.org/10.1002/ana.21191DOI Listing
August 2007

Intraspecific diversity of Oenococcus oeni strains determined by sequence analysis of target genes.

Appl Microbiol Biotechnol 2006 Nov 16;73(2):394-403. Epub 2006 Aug 16.

Faculte d'Oenologie, UMR 1219, Oenologie-Ampelologie, INRA-Universite Victor Segalen Bordeaux 2, 351 cours de la Liberation, Talence 33405, France.

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http://dx.doi.org/10.1007/s00253-006-0487-2DOI Listing
November 2006

Testing and improving experimental parameters for the use of low molecular weight targets in array-CGH experiments.

Hum Mutat 2006 Nov;27(11):1143-50

Laboratoire de Génétique Humaine, Développement et Cancer (Equipe d'Accueil 3669), Université Victor Segalen Bordeaux2, Bordeaux, France.

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http://dx.doi.org/10.1002/humu.20398DOI Listing
November 2006

Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.

Pigment Cell Res 2006 Jun;19(3):239-42

Service de Génétique Médicale, Centre Hospitalier Universitaire, Bordeaux, France.

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http://dx.doi.org/10.1111/j.1600-0749.2006.00298.xDOI Listing
June 2006

Behavioral and temperamental features of children with Costello syndrome.

Am J Med Genet A 2006 May;140(9):968-74

Child Psychiatry Department, Centre Hospitalier Charles-Perrens, Bordeaux2 University, Bordeaux, France.

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http://dx.doi.org/10.1002/ajmg.a.31169DOI Listing
May 2006

Profiling candidate genes involved in wax biosynthesis in Arabidopsis thaliana by microarray analysis.

Biochim Biophys Acta 2005 Jun;1734(3):247-58

Laboratoire de Biogenèse Membranaire, CNRS, UMR 5200, Université Victor Segalen Bordeaux 2, 146 rue léo Saignat, Case 92, 33076 Bordeaux Cedex, France.

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http://dx.doi.org/10.1016/j.bbalip.2005.04.002DOI Listing
June 2005

Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.

Eur J Hum Genet 2004 Mar;12(3):245-50

Laboratoire de Génétique Humaine, Développement et Cancer, Université Victor Segalen Bordeaux 2, F-33076, Bordeaux, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201128DOI Listing
March 2004

Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR.

Hum Mutat 2004 Mar;23(3):278-84

Laboratoire de Génétique Humaine, Développement et Cancer, Université Victor Segalen Bordeaux 2, Bordeaux, France.

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http://dx.doi.org/10.1002/humu.20001DOI Listing
March 2004

Costello syndrome and neurological abnormalities.

Am J Med Genet A 2003 Dec;123A(3):301-5

Department of Medical Genetics, Pellegrin-Children's Universitary Hospital, Bordeaux, France.

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http://dx.doi.org/10.1002/ajmg.a.20330DOI Listing
December 2003

Increase in total blood antioxidant status and selenium levels in black patients with active vitiligo.

Int J Dermatol 2002 Oct;41(10):640-2

Service de Dermatologie and Département de Santé Publique, Centre Hospitalier Universitaire de Fort de France, Martinique, French West Indies.

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http://dx.doi.org/10.1046/j.1365-4362.2002.01472.xDOI Listing
October 2002

SCAN domain-containing 2 gene (SCAND2) is a novel nuclear protein derived from the zinc finger family by exon shuffling.

Gene 2002 May;289(1-2):1-6

Laboratoire de Pathologie Moléculaire et Thérapie Génique, Université Victor Segalen Bordeaux 2, 146 Rue Léo Saignat, 33076 Bordeaux Cedex, France.

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http://dx.doi.org/10.1016/s0378-1119(02)00543-7DOI Listing
May 2002

Proteolipidic vectors for gene transfer to the lung.

Biochem Biophys Res Commun 2002 Feb;290(5):1489-98

Laboratoire de Pathologie Moléculaire et Thérapie Génique, Université Victor Segalen Bordeaux 2, 146 Rue Léo Saignat, Bordeaux Cedex, 33076, France.

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http://linkinghub.elsevier.com/retrieve/pii/S0006291X0296343
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http://dx.doi.org/10.1006/bbrc.2002.6343DOI Listing
February 2002