Publications by authors named "Pierre Vabres"

99Publications

Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation.

Eur J Med Genet 2020 Aug 14;63(11):104036. Epub 2020 Aug 14.

Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, CHU Dijon Bourgogne, 21079, Dijon, France; Génétique des Anomalies du Développement, UMR1231, Université de Bourgogne, 21079, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU Dijon Bourgogne, 21079, Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104036DOI Listing
August 2020

Limb overgrowth associated with a mosaic TSC2 second-hit in tuberous sclerosis complex.

Am J Med Genet A 2020 Aug 17. Epub 2020 Aug 17.

CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France.

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http://dx.doi.org/10.1002/ajmg.a.61811DOI Listing
August 2020

Congenital infiltrating lipomatosis of the face with lingual mucosal neuromas associated with a PIK3CA mutation.

Pediatr Dermatol 2020 Aug 8. Epub 2020 Aug 8.

Department of Dermatology, University Hospital of Brest, Brest, France.

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http://dx.doi.org/10.1111/pde.14302DOI Listing
August 2020

Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferation.

Biochem Biophys Res Commun 2020 Sep 30;530(3):520-526. Epub 2020 Jun 30.

INSERM, LNC UMR1231 Team HSP-pathies, University of Burgundy and Franche-Comté, F-21000, Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.bbrc.2020.04.146DOI Listing
September 2020

Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation.

J Invest Dermatol 2020 May 11;140(5):1106-1110.e2. Epub 2019 Nov 11.

Dermatology Department, Dijon Burgundy University Hospital, Dijon, France; INSERM UMR1231, Team Genetics of Development Anomalies, Bourgogne-Franche-Comté University, Dijon, France; Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC)-Mosaic, Burgundy University Hospital, Dijon, France.

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http://dx.doi.org/10.1016/j.jid.2019.08.455DOI Listing
May 2020

Severe gynaecological involvement in Proteus Syndrome.

Eur J Med Genet 2019 Apr 10;62(4):270-272. Epub 2018 Aug 10.

Department of Dermatology, Reference Centre for Rare Skin Diseases, CHU Larrey, Paul Sabatier University, Toulouse, France.

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http://dx.doi.org/10.1016/j.ejmg.2018.08.003DOI Listing
April 2019

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

Circulation 2017 Sep 7;136(11):1037-1048. Epub 2017 Jul 7.

From Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Université catholique de Louvain, Brussels, Belgium (N.R.); Université catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of Rochester School of Medicine and Dentistry, Rochester, NY (M.C.); Departments of Pediatrics and Medicine, Columbia University, New York (W.C., A.B.); Department of Medical Imaging, Sainte-Justine Mother- Child University Hospital, Montreal, Canada (J.D.); Service de Dermatologie, Centre Hospitalo-Universitaire de Nice, France (J.-P.L.); Genética Molecular, Hospital Sant Joan de Déu, Barcelona, Spain (L.M.); Service de Dermatologie, Centre de Référence des Maladies rares de la peau, Hôpital Larrey, Toulouse, France (J.M.-H.); Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia (R.E.P.); Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia (D.J.A.); Department of Neuroradiology, Lariboisière Hospital, Paris, France (A.B.); Vascular Anomalies Program, Lenox Hill Hospital, New York (F.B.); Vascular Birthmark Institute of New York, Roosevelt Hospital (F.B.); Department of Pediatrics, Medical Genetics University of Iowa Carver College of Medicine, Iowa City (H.B.); Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, France (A.D.); Department of Urology, Wake Forest School of Medicine, Winston Salem, NC (D.B.); Genetics Service, Paediatric Department, University Hospital Santa Maria, Lisbon, Portugal (J.D.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (M.A.G.-E.); Departement of Dermatology, School of Medicine, University of California, San Francisco (I.P.); Department of Genetics, University Hospital, Caen, France (M.G.); Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden (M.K.); Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA (A.K.H.-K., L.H.); Hopital Pellegrin Enfants, Bordeaux, France (C.L.-L.); Hôpital Sainte-Justine, Montréal, Quebec, Canada (C.M.); Department of Dermatology, Texas Children's Hospital, Houston (D.M.); Département de Pédiatrie et Génétique Médicale, CHRU Hôpital Morvan, Brest, France (P.P.); Department of Dermatology, Paul Sabatier University, Toulouse, France (C.P.); Service de Génétique Clinique, Hôpital Jeanne de Flandre, Lille, France (F.P.); Pediatric Dermatology Unit, Claude Bernard-Lyon, University and Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, France (A.P.); Centre Hospitalier Universitaire, Montpellier, France (I.Q.); Dermatolgie, Faculté de Médecine d'Alger, Algeria (A.S.); Department of Medical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia (A.T.); Service de Dermatologie, Centre Hospitalo-Universitaire Dijon-Bourgogne, France (P.V.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (A.V.); Department of Paediatric Dermatology, Sydney Children's Hospital, School of Women's and Children's Health University of New South Wales, Sydney, Australia (O.W.); Department of Plastic and Reconstructive Surgery, University of Tokyo, Hongo, Japan (S.W.); Department of Pediatric Dermatology, University Children's Hospital Zurich, Switzerland (L.W.); Children's Hospital of New York (A.W.); University of Iowa Hospitals and Clinics, Iowa City (M.W.); Department of Pediatrics, Washington University, St. Louis, MO (M.W.); and Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, MA (L.M.B.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.116.026886DOI Listing
September 2017

Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis.

J Invest Dermatol 2017 07 28;137(7):1575-1578. Epub 2017 Feb 28.

Université Bourgogne Franche-Comté, EA 4271 Génétique des Anomalies du Développement, Dijon, France; Service de Pathologie, Plateau Technique de Biologie, CHU Dijon Bourgogne, France; Service de Dermatologie, CHU Dijon Bourgogne, Dijon, France; Centre de référence Anomalies du Développement et Syndromes Malformatifs, CHU Dijon Bourgogne, France. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2017.01.035DOI Listing
July 2017

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

Prenat Diagn 2016 Dec 2;36(13):1276-1279. Epub 2016 Dec 2.

Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs de l'Est, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

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http://dx.doi.org/10.1002/pd.4965DOI Listing
December 2016

Neonatal Cutis Laxa and Hypertrichosis Lanuginosa in Sotos Syndrome.

Pediatr Dermatol 2016 Nov 7;33(6):e351-e352. Epub 2016 Sep 7.

Department of Dermatology, Dijon University Hospital, Dijon, France.

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http://dx.doi.org/10.1111/pde.12969DOI Listing
November 2016

Etiologies and prognostic factors of leukocytoclastic vasculitis with skin involvement: A retrospective study in 112 patients.

Medicine (Baltimore) 2016 Jul;95(28):e4238

aService de médecine interne et immunologie clinique bService de médecine interne et maladies systémiques cService de dermatologie dLaboratoire d'anatomopathologie eService de pneumologie fService de maladies infectieuses, CHU François Mitterrand, Dijon, France.

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http://dx.doi.org/10.1097/MD.0000000000004238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4956825PMC
July 2016

Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia.

J Invest Dermatol 2016 05 29;136(5):1060-1062. Epub 2016 Jan 29.

Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalo-Universitaire Dijon-Bourgogne, Dijon, France; Service de Dermatologie, Centre Hospitalo-Universitaire Dijon-Bourgogne, Dijon, France.

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http://dx.doi.org/10.1016/j.jid.2016.01.015DOI Listing
May 2016

Reliability, validity and feasibility of nail ultrasonography in psoriatic arthritis.

Joint Bone Spine 2016 Oct 10;83(5):539-44. Epub 2015 Dec 10.

Service de rhumatologie, hôpital du Bocage, CHU de Dijon, 14, rue Gaffarel, 21000 Dijon, France; Inserm 1093, université de Bourgogne, 21000 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.jbspin.2015.11.004DOI Listing
October 2016

Genetic Testing for Melanoma-Where Are We With Moderate-Penetrance Genes?

JAMA Dermatol 2016 Apr;152(4):375-6

Service de Dermatologie, Centre Hospitaliser Lyon Sud, Pierre Bénite, France6Université Claude Bernard Lyon 1, Villeurbanne, France7Centre de Recherche sur le Cancer de Lyon, INSERM U1052-CNRS UMR5286, Centre Léon Bérard, Lyon, France.

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http://dx.doi.org/10.1001/jamadermatol.2015.4359DOI Listing
April 2016

Methotrexate in Severe Childhood Alopecia Areata: Long-term Follow-up.

Acta Derm Venereol 2016 Jan;96(1):102-3

Service de Dermatologie, Centre de Référence des Maladies Rares de la Peau, Hôpital Larrey, 24 Chemin de Pouvourville, FR-31059 Toulouse, France.

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http://dx.doi.org/10.2340/00015555-2173DOI Listing
January 2016

A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain.

J Am Acad Dermatol 2015 Mar 13;72(3):473-80. Epub 2015 Jan 13.

Department of Dermatology and Pediatric Dermatology, Pellegrin Children's Hospital, Bordeaux, France; National Center for Rare Skin Disorders-Institut National de la Santé Et de la Recherche Médicale (INSERM) U1035, Bordeaux Segalen University, Bordeaux, France.

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http://dx.doi.org/10.1016/j.jaad.2014.11.009DOI Listing
March 2015

Burden of inherited ichthyosis: a French national survey.

Acta Derm Venereol 2015 Mar;95(3):326-8

Reference Centre for Rare Skin Diseases, Dermatology Department, CHU Toulouse, Larrey Hospital, FR-31059 Toulouse, France.

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http://dx.doi.org/10.2340/00015555-1955DOI Listing
March 2015

Diagnostic value of nail examination in Hailey-Hailey disease.

Eur J Dermatol 2014 Sep-Oct;24(5):628-9

Dermatology Department, Hôpital du Bocage, 2, boulevard Maréchal de Lattre de Tassigny, 21079 Dijon cedex, France.

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http://dx.doi.org/10.1684/ejd.2014.2412DOI Listing
August 2015

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.

Eur J Hum Genet 2015 Jul 15;23(7):957-62. Epub 2014 Oct 15.

1] Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France [2] Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France.

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http://dx.doi.org/10.1038/ejhg.2014.213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4463501PMC
July 2015

Prospective study of the evolution of blood lymphoid immune parameters during dacarbazine chemotherapy in metastatic and locally advanced melanoma patients.

PLoS One 2014 29;9(8):e105907. Epub 2014 Aug 29.

INSERM, UMR866, Dijon, France; Faculté de Médecine, Université de Bourgogne, Dijon, France; Oncologie médicale, Centre Georges François Leclerc, Dijon, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0105907PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4149472PMC
June 2015

Juvenile xanthogranuloma and nevus anemicus in the diagnosis of neurofibromatosis type 1.

JAMA Dermatol 2014 Jan;150(1):42-6

Dermatology, Centre Hospitalier Universitaire de Dijon3Research Unit EA 4271 Génétique des Anomalies du Développement, Université de Bourgogne, PRES Bourgogne-Franche Comté, France4Centre de Compétence Maladies Rares Neurofibromatose 1, Dijon, France.

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http://dx.doi.org/10.1001/jamadermatol.2013.6434DOI Listing
January 2014

Factors associated with impaired quality of life in adult patients suffering from ichthyosis.

Acta Derm Venereol 2014 May;94(3):344-6

Reference Centre for rare skin diseases, Dermatology department, CHU Toulouse, FR-31059 Toulouse, France.

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http://dx.doi.org/10.2340/00015555-1710DOI Listing
May 2014

Quinoline Yellow dye-induced fixed food-and-drug eruption.

Contact Dermatitis 2013 Mar;68(3):187-8

Department of Dermatology, CHU Le Bocage, 21000 Dijon, France.

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http://dx.doi.org/10.1111/cod.12019DOI Listing
March 2013

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

Authors:
Corine Bertolotto Fabienne Lesueur Sandy Giuliano Thomas Strub Mahaut de Lichy Karine Bille Philippe Dessen Benoit d'Hayer Hamida Mohamdi Audrey Remenieras Eve Maubec Arnaud de la Fouchardière Vincent Molinié Pierre Vabres Stéphane Dalle Nicolas Poulalhon Tanguy Martin-Denavit Luc Thomas Pascale Andry-Benzaquen Nicolas Dupin Françoise Boitier Annick Rossi Jean-Luc Perrot Bruno Labeille Caroline Robert Bernard Escudier Olivier Caron Laurence Brugières Simon Saule Betty Gardie Sophie Gad Stéphane Richard Jérôme Couturier Bin Tean Teh Paola Ghiorzo Lorenza Pastorino Susana Puig Celia Badenas Hakan Olsson Christian Ingvar Etienne Rouleau Rosette Lidereau Philippe Bahadoran Philippe Vielh Eve Corda Hélène Blanché Diana Zelenika Pilar Galan François Aubin Bertrand Bachollet Céline Becuwe Pascaline Berthet Yves Jean Bignon Valérie Bonadona Jean-Louis Bonafe Marie-Noëlle Bonnet-Dupeyron Fréderic Cambazard Jacqueline Chevrant-Breton Isabelle Coupier Sophie Dalac Liliane Demange Michel d'Incan Catherine Dugast Laurence Faivre Lynda Vincent-Fétita Marion Gauthier-Villars Brigitte Gilbert Florent Grange Jean-Jacques Grob Philippe Humbert Nicolas Janin Pascal Joly Delphine Kerob Christine Lasset Dominique Leroux Julien Levang Jean-Marc Limacher Cristina Livideanu Michel Longy Alain Lortholary Dominique Stoppa-Lyonnet Sandrine Mansard Ludovic Mansuy Karine Marrou Christine Matéus Christine Maugard Nicolas Meyer Catherine Nogues Pierre Souteyrand Laurence Venat-Bouvet Hélène Zattara Valérie Chaudru Gilbert M Lenoir Mark Lathrop Irwin Davidson Marie-Françoise Avril Florence Demenais Robert Ballotti Brigitte Bressac-de Paillerets

Nature 2011 Oct 19;480(7375):94-8. Epub 2011 Oct 19.

1] INSERM, U895 (équipe 1), Equipe labélisée Ligue Contre le Cancer, C3M, 06204 Nice, France [2] Université of Nice Sophia-Antipolis, UFR Médecine, 06204 Nice, France [3] Centre Hospitalier Universitaire de Nice, Service de Dermatologie, 06204 Nice, France [4].

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http://dx.doi.org/10.1038/nature10539DOI Listing
October 2011

Cutaneous B-cell lymphoblastic lymphoma in children: a rare diagnosis.

J Am Acad Dermatol 2012 Jan 13;66(1):51-7. Epub 2011 Jul 13.

Necker-Enfants-Malades Hospital, Dermatology Department and Pathology Department, Assistance Publique Hôpitaux de Paris, University René Descartes Paris V, Paris, France.

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http://dx.doi.org/10.1016/j.jaad.2010.10.040DOI Listing
January 2012

Medial fronto-facial capillary malformations.

J Pediatr 2011 May 16;158(5):836-41. Epub 2010 Dec 16.

Department of Dermatology, Hôpital Archet-2, University Hospital of Nice, France.

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http://dx.doi.org/10.1016/j.jpeds.2010.11.001DOI Listing
May 2011

Congenital plaque-type glomuvenous malformations associated with fetal pleural effusion and ascites.

Pediatr Dermatol 2011 Sep-Oct;28(5):528-31. Epub 2010 Dec 7.

Department of Dermatology, Hospital of Chalon Sur Saône, Chalon Sur Saône, France.

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http://dx.doi.org/10.1111/j.1525-1470.2010.01216.xDOI Listing
February 2012

Reconstruction of hyperspectral cutaneous data from an artificial neural network-based multispectral imaging system.

Comput Med Imaging Graph 2011 Mar 9;35(2):85-8. Epub 2010 Aug 9.

Laboratoire Le2i, UMR CNRS 5158, UFR Sc. & Tech., Université de Bourgogne, BP 474870, 21078 Dijon Cedex, France.

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http://dx.doi.org/10.1016/j.compmedimag.2010.07.001DOI Listing
March 2011

Efficacy of propranolol in hepatic infantile hemangiomas with diffuse neonatal hemangiomatosis.

J Pediatr 2010 Aug 20;157(2):340-2. Epub 2010 May 20.

Dermatology Department, Paul Sabatier University and the Department of Dermatology, Children's Hospital, Toulouse, France.

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http://dx.doi.org/10.1016/j.jpeds.2010.04.003DOI Listing
August 2010

Fixed eruption due to quinine contained in tonic water: positive patch-testing.

Contact Dermatitis 2009 Oct;61(4):242-4

Dermatology Department, CHU Le Bocage, Dijon cedex, France.

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http://dx.doi.org/10.1111/j.1600-0536.2009.01617.xDOI Listing
October 2009

[Genetic susceptibility to skin cancers].

Authors:
Pierre Vabres

Presse Med 2008 Oct 2;37(10):1480-3. Epub 2008 Sep 2.

Service de dermatologie, CHU de Dijon, F-21079 Dijon Cedex, France.

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http://dx.doi.org/10.1016/j.lpm.2008.05.009DOI Listing
October 2008

Diagnostic and predictive value of skin testing in platinum salt hypersensitivity.

J Allergy Clin Immunol 2007 Mar 25;119(3):726-30. Epub 2007 Jan 25.

Dermatology Department, University Hospital, Dijon Cedex, France.

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http://linkinghub.elsevier.com/retrieve/pii/S009167490603031
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http://dx.doi.org/10.1016/j.jaci.2006.11.640DOI Listing
March 2007

Childhood dermatosis due to microchimerism.

Dermatology 2005 ;211(4):388-9; author reply 389

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http://dx.doi.org/10.1159/000088521DOI Listing
January 2006

Bi-acromial dimples: a series of seven cases.

Pediatr Dermatol 2005 Sep-Oct;22(5):412-4

Department of Dermatology, CHU la Milétrie, Poitiers Cedex, France.

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http://dx.doi.org/10.1111/j.1525-1470.2005.00104.xDOI Listing
February 2006

Retinal angioma in a patient with Cowden disease.

Am J Ophthalmol 2003 Mar;135(3):400-2

Department of Ophthalmology, CHU Jean Bernard, Poitiers, France.

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http://dx.doi.org/10.1016/s0002-9394(02)01963-3DOI Listing
March 2003

[Buttocks dermatitis in infants].

Servir 2002 Nov-Dec;50(6):301-6

Serviço de Dermatologia, CHU Poltiers, França.

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September 2003

Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28.

J Invest Dermatol 2002 Jul;119(1):70-6

Département de Génétique et Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.

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http://dx.doi.org/10.1046/j.1523-1747.2002.01809.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6173186PMC
July 2002

Anetoderma: an altered balance between metalloproteinases and tissue inhibitors of metalloproteinases.

Am J Dermatopathol 2002 Apr;24(2):118-29

Laboratoire de physiopathologie des tissus non minéralisés, Université René Descartes-Paris V, UFR d'Odontologie, 1 Rue Maurice Arnoux, 92120 Montrouge, France.

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http://dx.doi.org/10.1097/00000372-200204000-00003DOI Listing
April 2002