Publications by authors named "Berenice Doray"

55Publications

Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.

Clin Genet 2020 Sep 28;98(3):251-260. Epub 2020 Jul 28.

Laboratoires de Diagnostic Génétique, Institut de génétique médicale d'Alsace, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13798DOI Listing
September 2020

Discordant malformations in monochorionic twins: a retrospective cohort study in La Reunion Island.

J Matern Fetal Neonatal Med 2019 Mar 25:1-7. Epub 2019 Mar 25.

a Service de Gynécologie - Obstétrique , Centre Hospitalier Universitaire Sud-Réunion , Saint-Pierre , France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/14767058.2019.1594767DOI Listing
March 2019

Congenital unilateral renal agenesis: Prevalence, prenatal diagnosis, associated anomalies. Data from two birth-defect registries.

Birth Defects Res 2017 Sep 19;109(15):1204-1211. Epub 2017 Jul 19.

Centre d'Etude des Malformations Congénitale, CEMC-Auvergne, Clermont-Ferrand, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdr2.1065DOI Listing
September 2017

Congenital Zika syndrome: time to move from case series to case-control studies and data sharing.

BMJ 2016 Sep 14;354:i4850. Epub 2016 Sep 14.

Department of Pediatrics, Stanford School of Medicine, Palo Alto, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bmj.i4850DOI Listing
September 2016

Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies.

Neurology 2016 05 6;86(18):1716-25. Epub 2016 Apr 6.

From Ulster University (H.D., M.L.), Northern Ireland, UK; University of Groningen (H.W., L.T.W.d.J.-v.d.B.), the Netherlands; Barts and the London School of Medicine and Dentistry (J.M.), UK; Hospital Lillebaelt (E.G.), Kolding, Denmark; Registre Vaudois des Malformations (M.-C.A.), Lausanne, Switzerland; Public Health Division of Gipuzkoa (L.A.), Instituto BIO-Donostia, Basque Government, CIBER Epidemiología y Salud Pública-CIBERESP, Madrid, Spain; University Medical Centre Groningen (M.B.), the Netherlands; Children's University Hospital Zagreb (I.B.), Croatia; Registre des Malformations Congenitales D'Alsace (B.D.), University of Strasbourg, France; Department of Health Information and Research (M.G.), Malta; Swedish National Board of Health and Welfare (K. Kallen), Stockholm, Sweden; Institut National de la Sante et de la Recherche Medicale (B.K.), INSERM, Villejuif, France; Medical Birth Registry of Norway (K. Klungsoyr), Oslo; National Institute for Health & Welfare (A.-M.L.-K.), Helsinki, Finland; Poznan University of Medical Sciences (A.L.-B., J.P.M.), Poland; Provinciaal Instituut voor Hygiene (V.N.), Antwerp, Belgium; Center for Clinical and Epidemiological Research Ferrara (A.N.), Italy; Health Service Executive (M.O.), Kildare, Ireland; Institute of Clinical Physiology-National Research Council (IFC-CNR) (A.P.), Pisa, Italy; Otto-von-Guericke University Magdeburg (A.R.), Germany; Public Health Wales NHS Trust (D.T.), Congenital Anomaly Register and Information Service for Wales; Wessex Clinical Genetics Service (D.W.), Princess Anne Hospital, UK; and University Medical Center of Mainz Birth Registry Mainz Model (A.W.), Germany.

View Article

Download full-text PDF

Source
http://www.neurology.org/content/86/18/1716.full.pdf
Web Search
http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000002540DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4854591PMC
May 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

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.

Eur J Hum Genet 2015 Jan 23;23(1):49-53. Epub 2014 Apr 23.

Département de génétique, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris, France.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ejhg201460
Publisher Site
http://dx.doi.org/10.1038/ejhg.2014.60DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266744PMC
January 2015

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.

Genet Med 2014 Sep 6;16(9):720-4. Epub 2014 Mar 6.

1] Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, CHU de Hautepierre, Strasbourg, France [2] Laboratoire de Génétique Médicale, INSERM U1112, Faculté de Médecine, Université de Strasbourg, Strasbourg, France [3] Current affiliation: Service de Génétique, CHU la Réunion, Hôpital Félix Guyon, Saint-Denis, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2014.12DOI Listing
September 2014

Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

Hum Mutat 2013 Jan 16;34(1):88-92. Epub 2012 Oct 16.

Department of Genetics, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22216DOI Listing
January 2013

Raine syndrome: expanding the radiological spectrum.

Pediatr Radiol 2011 Mar 13;41(3):389-93. Epub 2010 Nov 13.

Service de Radiologie 2, CHU de Strasbourg Hôpital de Hautepierre, 1 avenue Molière, 67098, Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00247-010-1875-4DOI Listing
March 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

Frasier syndrome, a potential cause of end-stage renal failure in childhood.

Pediatr Nephrol 2010 Mar;25(3):549-52

Nephrology Dialysis Children Unit, University Hospital, Avenue Molière, 67098 Strasbourg Cedex, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00467-009-1343-2DOI Listing
March 2010

Prenatal sonographic diagnosis of the 49,XXXXY syndrome.

Prenat Diagn 2002 Dec;22(13):1177-80

Laboratoire de Cytogénétique, Hôpital de Hautepierre, Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.473DOI Listing
December 2002

Pallister-Killian syndrome: difficulties of prenatal diagnosis.

Prenat Diagn 2002 Jun;22(6):470-7

Laboratoire de Cytogénétique, Hôpital de Hautepierre, Strasbourg, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.342DOI Listing
June 2002