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Hélène Dollfus

Short CV

1989-1994 Interne des Hôpitaux de Strasbourg
1990-1992 Année-Recherche laboratoire de Génétique Humaine, INSERM U12, Hôpital Necker-Enfants Malades, Paris (Pr A Munnich)
1992-1993 Interne de Spécialité (en Inter-CHU), Service d’Ophtalmologie, Hôpital Necker-Enfants Malades, Paris (Pr Dufier)
1993 Honorary Senior Registrar, Moorfields Eye Hospital, London (Pr Bird)
1994 Interne de Spécialité, Service d’Ophtalmologie, Hôpitaux Universitaires de Strasbourg (Pr Flament)
1994-1997 Chef de Clinique-Assistant, Service d’Ophtalmologie, Hôpital Necker-Enfants Malades, Université Paris V, Paris (Pr Dufier)
1997-2003 Maître de Conférences des Universités – Praticien Hospitalier, Service de Génétique Médicale , Hôpitaux Universitaires de Strasbourg (Pr Stoll)
Depuis 2003 Professeur de génétique médicale- Praticien Hospitalier - Hôpitaux Universitaires de Strasbourg, Service de génétique médicale - Pôle de biologie

Documents

CV of Hélène Dollfus [pdf]

Scientifc Interest

  • Understanding and searching for treatment in syndromic RP

Memberships

  • Association for Research in Vision and Ophthalmology (ARVO)
  • ASHG
  • ESHG 
Hélène Dollfus
Hélène Dollfus

Research Group

Pathogenesis and molecular epidemiology of rare genetic disorders
[more information]

Contact

Inserm - Université de Strasbourg - Hôpitaux Universitaires de Strasbourg

Faculté de Médecine de Strasbourg,
11 rue Humann
Strasbourg
France

Phone: +33388128120
Fax: +33388128125

Email:
Helene.dollfus[at]medecine.u-strasbg.fr

Key Publications

  1. de Pontual L, Pelet A, Clement-Ziza M, Trochet D, Antonarakis SE, Attie-Bitach T, Beales PL, Blouin JL, Dastot-Le Moal F, Dollfus H, Goossens M, Katsanis N, Touraine R, Feingold J, Munnich A, Lyonnet S, Amiel J.
    Epistatic interactions with a common hypomorphic Ret allele in syndromic Hirschsprung disease.
    Hum Mutat;28(8):790-6.
  2. Perrault I, Delphin N, Hanein S, Gerber S, Dufier JL, Roche O, Defoort-Dhellemmes S, Dollfus H, Fazzi E, Munnich A, Kaplan J, Rozet JM. of
    NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
    Hum Mutat. 2007;28(4):416.
  3. Deffert C, Niel F, Mochel F, Barrey C, Romana C, Souied E, Stoetzel C, Goossens M, Dollfus H, Verloes A, Girodon E, Gerard-Blanluet M.
    Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family.
    Am J Med Genet A. 2007 15;143(2):208-13.
  4. Lévêque M, Marlin S, Jonard L, Procaccio V, Reynier P, Amati-Bonneau P, Baulande S, Pierron D, Lacombe D, Duriez F, Francannet C, Mom T, Journel H, Catros H, Drouin-Garraud V, Obstoy MF, Dollfus H, Eliot MM, Faivre L, Duvillard C, Couderc R, Garabedian EN, Petit C, Feldmann D, Denoyelle F.
    Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.
    Eur J Hum Genet. 2007 Nov;15(11):1145-55.
  5. Seifert W, Holder-Espinasse M, Kühnisch J, Kahrizi K, Tzschach A, Garshasbi M, Najmabadi H, Walter Kuss A, Kress W, Laureys G, Loeys B, Brilstra E, Mancini GM, Dollfus H, Dahan K, Apse K, Christian Hennies H, Horn D.
    Expanded mutational spectrum in cohen syndrome, tissue expression, and transcript variants of COH1.
    Hum Mutat. 2008 Nov 12. [Epub ahead of print]
  6. Laugel V, Dalloz C, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Valayannopoulos V, Sarasin A, Dollfus H.
    Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.
    J Med Genet. 2008 Sep;45(9):564-71.
  7. Chevrollier A, Guillet V, Loiseau D, Gueguen N, de Crescenzo MA, Verny C, Ferre M, Dollfus H, Odent S, Milea D, Goizet C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P.
    Hereditary optic neuropathies share a common mitochondrial coupling defect.
    Ann Neurol. 2008 Jun;63(6):794-8.
  8. Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N.
    Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
    Nat Genet. 2008 Apr;40(4):443-8. Epub 2008 Mar 9. Erratum in: Nat Genet. 2008 Jul;40(7):927.
  9. Laugel V, Dalloz C, Stary A, Cormier-Daire V, Desguerre I, Renouil M, Fourmaintraux A, Velez-Cruz R, Egly JM, Sarasin A, Dollfus H.
    Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome.
    Eur J Hum Genet. 2008 Mar;16(3):320-7. Epub 2008 Jan 9.

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