Helene Dollfus

Helene Dollfus

UNVERIFIED PROFILE

Are you Helene Dollfus?   Register this Author

Register author
Helene Dollfus

Helene Dollfus

Publications by authors named "Helene Dollfus"

Are you Helene Dollfus?   Register this Author

100Publications

3927Reads

35Profile Views

In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies.

Exp Eye Res 2019 Sep 11;186:107721. Epub 2019 Jul 11.

INSERM, Laboratoire de Génétique Médicale, UMR_U1112, Ciliopathies Modeling and Associated Therapies Team (CMAT), Fédération de Médecine Translationnelle de Strasbourg (FMTS), Institut de Génétique Médicale D'Alsace (IGMA), Université de Strasbourg, 11 Rues Humann, Bâtiment 3, 67085, Strasbourg, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.exer.2019.107721DOI Listing
September 2019

The Molecular Architecture of Native BBSome Obtained by an Integrated Structural Approach.

Structure 2019 Sep 11;27(9):1384-1394.e4. Epub 2019 Jul 11.

Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA; Laboratory of Molecular Electron Microscopy, The Rockefeller University, New York, NY 10065, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.str.2019.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6726506PMC
September 2019

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.

Am J Hum Genet 2019 Sep 15;105(3):509-525. Epub 2019 Aug 15.

Institute of Genetics and Molecular and Cellular Biology, Illkirch, France; French National Center for Scientific Research, UMR7104, 67400 Illkirch, France; National Institute of Health and Medical Research U964, 67400 Illkirch, France; University of Strasbourg, 67081 Illkirch, France; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731366PMC
September 2019

Correction to: An ontological foundation for ocular phenotypes and rare eye diseases.

Orphanet J Rare Dis 2019 Aug 15;14(1):200. Epub 2019 Aug 15.

Centre for Rare Eye Diseases CARGO, SENSGENE FSMR Network, Strasbourg University Hospital, Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-019-1156-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6696684PMC
August 2019

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Nucleic Acids Res 2019 Jan;47(D1):D1018-D1027

Monarch Initiative, monarchinitiative.org.

View Article

Download full-text PDF

Source
https://academic.oup.com/nar/advance-article/doi/10.1093/nar
Publisher Site
http://dx.doi.org/10.1093/nar/gky1105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324074PMC
January 2019

An ontological foundation for ocular phenotypes and rare eye diseases.

Orphanet J Rare Dis 2019 01 9;14(1). Epub 2019 Jan 9.

Centre for Rare Eye Diseases CARGO, SENSGENE FSMR Network, Strasbourg University Hospital, Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-018-0980-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327432PMC
January 2019

Identification and Characterization of Known Biallelic Mutations in the () Gene in a Novel Family With Bardet-Biedl Syndrome.

Front Genet 2019 30;10:21. Epub 2019 Jan 30.

Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fgene.2019.00021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363664PMC
January 2019

AnnotSV: an integrated tool for structural variations annotation.

Bioinformatics 2018 10;34(20):3572-3574

Laboratoire de Génétique Médicale, UMR_S INSERM U1112, IGMA, Faculté de Médecine FMTS, Université de Strasbourg, Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/bioinformatics/bty304DOI Listing
October 2018

Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.

Hum Mol Genet 2018 May 16. Epub 2018 May 16.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddy179DOI Listing
May 2018

[France Genomics Medicine 2025 plan].

Authors:
Hélène Dollfus

Med Sci (Paris) 2018 May 18;34 Hors série n°1:39-41. Epub 2018 Jun 18.

Chef de service, Professeur des Universités, Service de génétique médicale, Hôpitaux Universitaires de Strasbourg, 1, avenue Molière, 67089 Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1051/medsci/201834s121DOI Listing
May 2018

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome.

Eur J Hum Genet 2018 04 8;26(4):527-536. Epub 2018 Feb 8.

Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, 1 place de l'hôpital, Strasbourg, 67091, France.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41431-017-0009-y
Publisher Site
http://dx.doi.org/10.1038/s41431-017-0009-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891492PMC
April 2018

Adapted Surgical Procedure for Argus II Retinal Implantation: Feasibility, Safety, Efficiency, and Postoperative Anatomic Findings.

Ophthalmol Retina 2018 Apr 26;2(4):276-287. Epub 2017 Oct 26.

Sorbonne Universités, UPMC Univ Paris 06, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC 1423, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.oret.2017.08.010DOI Listing
April 2018

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Am J Hum Genet 2017 Sep 17;101(3):428-440. Epub 2017 Aug 17.

Laboratoire de Diagnostic Génétique, Hôpitaux Universitaire de Strasbourg, 67000 Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67400 Illkirch, France; Centre National de la Recherche Scientifique, UMR7104, 67400 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, 67400 Illkirch, France; Université de Strasbourg, 67400 Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297173028
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2017.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590842PMC
September 2017

Insights into Ciliary Genes and Evolution from Multi-Level Phylogenetic Profiling.

Mol Biol Evol 2017 08;34(8):2016-2034

Complex Systems and Translational Bioinformatics, ICube UMR 7357, Université de Strasbourg, Fédération de Médecine Translationnelle, Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/molbev/msx146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5850483PMC
August 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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

MSX2 Gene Duplication in a Patient with Eye Development Defects.

Ophthalmic Genet 2015 25;36(4):353-8. Epub 2014 Mar 25.

a Centre de référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpital Civil , Strasbourg , France .

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/13816810.2014.886270DOI Listing
July 2016

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.

J Hum Genet 2016 May 14;61(5):447-50. Epub 2016 Jan 14.

Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2015.162DOI Listing
May 2016

[In Process Citation].

Authors:
Hélène Dollfus

Med Sci (Paris) 2016 Apr 2;32 Spec No 1:5-7. Epub 2016 May 2.

CHRU de Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1051/medsci/201632s102DOI Listing
April 2016

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

J Med Genet 2016 Feb 26;53(2):98-110. Epub 2015 Oct 26.

Centre de Référence des Manifestations Odontologiques des Maladies Rares, Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg, France Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France Institut de Génétique et de Biologie Moléculaire and Cellulaire-Centre Européen de Recherche en Biologie et en Médecine, CNRS UMR7104, INSERM U964 Université de Strasbourg, Illkirch, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2015-103302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752661PMC
February 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.

View Article

Download full-text PDF

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

Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.

Eur J Med Genet 2015 Sep 15;58(9):479-87. Epub 2015 Jul 15.

Laboratoire de Génétique Médicale INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine de Strasbourg, Université De Strasbourg, Strasbourg, France; Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2015.07.004DOI Listing
September 2015

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

Am J Ophthalmol 2015 Aug 15;160(2):364-372.e1. Epub 2015 May 15.

Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg, France; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Faculté de Médecine, Université de Strasbourg, Strasbourg, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajo.2015.05.007DOI Listing
August 2015

Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice.

Cilia 2015 13;4:10. Epub 2015 Aug 13.

Ciliopathies Modeling and Associated Therapies Team, Laboratory of Medical Genetics, National Institute for Health and Medical Research (INSERM), U1112, Université of Strasbourg, 11 rue Humann, 67085 Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13630-015-0019-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4535764PMC
August 2015

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

Hum Mol Genet 2015 Jun 10;24(11):3038-49. Epub 2015 Feb 10.

Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddv053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424950PMC
June 2015

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.

Am J Hum Genet 2015 Apr 26;96(4):666-74. Epub 2015 Mar 26.

Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg, France; Centre de Référence National pour les Affections Rares en Génétique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2015.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385181PMC
April 2015

A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome.

Mol Syndromol 2014 Dec 11;5(6):293-8. Epub 2014 Sep 11.

Faculty of Dentistry, University of Strasbourg (UdS), France ; Reference Center for Orodental Manifestations of Rare Diseases, Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpital Civil, Hôpitaux Universitaires de Strasbourg (HUS), France ; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), UMR 7104 and INSERM U964, UdS, Illkirch, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000366252DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281576PMC
December 2014

Should we systematically screen for peripheral arterial aneurysms in all patients with Marfan syndrome?

Int J Cardiol 2014 4;172(1):e94-5. Epub 2014 Jan 4.

Department of vascular medicine and clinical pharmacology, Strasbourg University Hospital, France.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S01675273130234
Publisher Site
http://dx.doi.org/10.1016/j.ijcard.2013.12.131DOI Listing
November 2014

[Bardet-Biedl syndrome: cilia and obesity - from genes to integrative approaches].

Med Sci (Paris) 2014 Nov 10;30(11):1034-9. Epub 2014 Nov 10.

Laboratoire de génétique médicale, Inserm U1112, fédération de médecine translationnelle de Strasbourg (FMTS), Université de Strasbourg, 11, rue Humann, 67000 Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1051/medsci/20143011018DOI Listing
November 2014

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).

J Med Genet 2014 Feb 11;51(2):132-6. Epub 2013 Sep 11.

Laboratoire de Génétique Médicale, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2013-101785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3966300PMC
February 2014

Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome.

JAMA Dermatol 2013 Dec;149(12):1414-8

Service de Dermatologie, Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France4Faculté de Médecine, Université de Strasbourg, Strasbourg, France.

View Article

Download full-text PDF

Source
http://archderm.jamanetwork.com/article.aspx?doi=10.1001/jam
Publisher Site
http://dx.doi.org/10.1001/jamadermatol.2013.6683DOI Listing
December 2013

A possible cranio-oro-facial phenotype in Cockayne syndrome.

Orphanet J Rare Dis 2013 Jan 14;8. Epub 2013 Jan 14.

Faculté de Chirurgie Dentaire de Strasbourg, Université de Strasbourg, 1 place de l'Hôpital, Strasbourg 67000, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-8-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599377PMC
January 2013

Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability.

J Biol Chem 2012 Oct 6;287(44):37483-94. Epub 2012 Aug 6.

Laboratoire de Physiopathologie des Syndromes Rares Héréditaires, AVENIR-INSERM, EA3949, Université de Strasbourg, 67085 Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.M112.386821DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3481343PMC
October 2012

Dominant optic atrophy, neuropathy, ataxia, white matter FLAIR hypersignals, middle cerebellar peduncule atrophy and asthenia in OPA1 mutation.

Eur Neurol 2012 3;67(5):287. Epub 2012 Apr 3.

Department of Neurology, CHU Besançon, Besançon, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000336743DOI Listing
August 2012

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

Cell 2012 Aug;150(3):533-48

Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cell.2012.06.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3433835PMC
August 2012

A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype.

Ophthalmic Genet 2011 Nov 5;32(4):250-5. Epub 2011 Jul 5.

Centre de Référence pour les Affections Rares en Génétique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/13816810.2011.592176DOI Listing
November 2011

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.

Eur J Med Genet 2011 Mar-Apr;54(2):157-60. Epub 2010 Oct 29.

Service de Génétique Médicale: centre de référence anomalies du développement Grand-Est et centre de référence affections génétiques ophtalmologiques (CARGO), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2010.10.004DOI Listing
August 2011

Bardet-Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption.

Kidney Int 2011 May 26;79(9):1013-25. Epub 2011 Jan 26.

Laboratoire de Physiopathologie des syndromes rares héréditaires, AVENIR-Inserm, EA3949, Faculté de médecine de Strasbourg, Université de Strasbourg, Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ki.2010.538DOI Listing
May 2011

Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.

Hum Mol Genet 2011 Feb 1;20(4):719-30. Epub 2010 Dec 1.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tuebingen, Roentgenweg 11, D-72076 Tuebingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddq517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3269206PMC
February 2011

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.

View Article

Download full-text PDF

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