Sophie Dupuis-Girod

Sophie Dupuis-Girod

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Sophie Dupuis-Girod

Sophie Dupuis-Girod

Publications by authors named "Sophie Dupuis-Girod"

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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2019 Oct 3. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
October 2019

Classical Ehlers-Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant.

Clin Genet 2019 Sep 18. Epub 2019 Sep 18.

Assistance-Publique Hôpitaux de Paris, Hôpital européen Georges Pompidou, Centre de référence des maladies vasculaires rares, Service de génétique, Paris, France.

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http://dx.doi.org/10.1111/cge.13643DOI Listing
September 2019

Hyperammonemic encephalopathy associated with hereditary hemorrhagic telangiectasia.

Clin Res Hepatol Gastroenterol 2019 Aug 15;43(4):e54-e56. Epub 2018 Nov 15.

Assistance publique-hôpitaux de Paris, hôpital Beaujon, service d'hépatologie, Inserm U1149, université Paris Diderot, 92110 Clichy, France.

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https://linkinghub.elsevier.com/retrieve/pii/S22107401183022
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http://dx.doi.org/10.1016/j.clinre.2018.10.011DOI Listing
August 2019

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

J Med Genet 2019 Aug 28;56(8):526-535. Epub 2019 Mar 28.

Service de Génétique, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1136/jmedgenet-2018-105778DOI Listing
August 2019

Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome.

Genet Med 2019 07 26;21(7):1568-1575. Epub 2018 Nov 26.

Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Centre de Référence des Maladies Vasculaires Rares, Paris, France.

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http://www.nature.com/articles/s41436-018-0356-2
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http://dx.doi.org/10.1038/s41436-018-0356-2DOI Listing
July 2019

Recurrence of Hereditary Hemorrhagic Telangiectasia After Liver Transplantation: Clinical Implications and Physiopathological Insights.

Hepatology 2019 May 7;69(5):2232-2240. Epub 2019 Mar 7.

Département de Biologie et Pathologie Médicales, Service de Pathologie Moléculaire, Gustave Roussy Cancer Campus, Villejuif, France.

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http://dx.doi.org/10.1002/hep.30424DOI Listing
May 2019

Assessment of Dural Ectasia Using Computed Tomodensitometry as a Criterion in Marfan Syndrome.

J Comput Assist Tomogr 2019 Mar/Apr;43(2):282-287

Service de Radiologie Centre Hospitalier Lyon sud, Hospices Civils de Lyon, Pierre-Bénite, France.

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http://Insights.ovid.com/crossref?an=00004728-900000000-9919
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http://dx.doi.org/10.1097/RCT.0000000000000822DOI Listing
April 2019

Prevention of serious infections in hereditary hemorrhagic telangiectasia: roles for prophylactic antibiotics, the pulmonary capillaries-but not vaccination.

Haematologica 2019 Feb;104(2):e85-e86

Hospices Civils de Lyon, Hôpital Femme-Mère-Enfants, Service de Génétique, and VASCERN HHT European Reference Centre/centre de Référence pour la maladie de Rendu-Osler, France, and Université de Lyon, Faculté de médecine, France.

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http://dx.doi.org/10.3324/haematol.2018.209791DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355489PMC
February 2019

Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia.

Orphanet J Rare Dis 2019 02 4;14(1):28. Epub 2019 Feb 4.

VASCERN HHT Reference Center, Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, and Vascular Sciences, National Heart and Lung Institute, Imperial College London, London, UK.

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http://dx.doi.org/10.1186/s13023-018-0982-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360670PMC
February 2019

12q13.12q13.13 microdeletion encompassing ACVRL1 and SCN8A genes: Clinical report of a new contiguous gene syndrome.

Eur J Med Genet 2018 Oct 30:103565. Epub 2018 Oct 30.

Hospices Civils de Lyon, Genetic Department and National HHT Reference Center, Femme-Mère-Enfants Hospital, Bron, F-69677, France.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183055
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http://dx.doi.org/10.1016/j.ejmg.2018.10.017DOI Listing
October 2018

European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT).

Orphanet J Rare Dis 2018 08 15;13(1):136. Epub 2018 Aug 15.

Hospices Civils de Lyon, Hôpital Femme-Mère-Enfants, Service de Génétique, and VASCERN HHT European Reference Centre/ centre de Référence pour la maladie de Rendu-Osler, F-69677, Bron, France.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0850-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094583PMC
August 2018

The Lung in Hereditary Hemorrhagic Telangiectasia.

Respiration 2017 30;94(4):315-330. Epub 2017 Aug 30.

Service de génétique - centre de référence national pour la maladie de Rendu-Osler, Hôpital Femme-Mère-Enfants, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1159/000479632DOI Listing
May 2018

Pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia: Correlations between computed tomography findings and cerebral complications.

Eur Radiol 2018 Mar 10;28(3):1338-1344. Epub 2017 Oct 10.

Hospices Civils de Lyon, Hôpital Cardiologique Louis Pradel, Département d'Imagerie Cardiaque et Thoracique, Diagnostique et Interventionnelle, 59 Boulevard Pinel, 69500, Bron, France.

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http://dx.doi.org/10.1007/s00330-017-5047-xDOI Listing
March 2018

Executive summary of the 12th HHT international scientific conference.

Angiogenesis 2018 02;21(1):169-181

Department of Pulmonology, St. Antonius Hospital, Koekoekslaan 1, 3435 CM, Nieuwegein, The Netherlands.

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http://dx.doi.org/10.1007/s10456-017-9585-2DOI Listing
February 2018

Response to Bevacizumab for the treatment of Rendu-Osler disease-A note of caution.

Liver Int 2017 06;37(6):928

Gastroenterology and Endoscopy Department, Reference Center for Hereditary Hemorrhagic Telangiectasia, Maggiore Hospital, ASST Crema, Crema, Italy.

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http://dx.doi.org/10.1111/liv.13385DOI Listing
June 2017

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.

J Med Genet 2017 02 31;54(2):100-103. Epub 2016 Aug 31.

Département de Génétique et Centre de Référence Maladies Rares Syndrome de Marfan et pathologies apparentées, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2016-103996DOI Listing
February 2017

Hereditary hemorrhagic telangiectasia: to transplant or not to transplant?

Liver Int 2016 12;36(12):1741-1744

Gastroenterology and Endoscopy Department, Reference Center for Hereditary Hemorrhagic Telangiectasia, Maggiore Hospital, ASST Crema, Crema, Italy.

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http://dx.doi.org/10.1111/liv.13210DOI Listing
December 2016

Marfan Sartan: a randomized, double-blind, placebo-controlled trial.

Eur Heart J 2015 Aug 2;36(32):2160-6. Epub 2015 May 2.

Centre National de Référence pour le syndrome de Marfan et apparentés, Hôpital Bichat, 46 rue Henry Huchard, Paris 75018, France Service de Cardiologie, AP-HP, Hôpital Bichat, Paris, France INSERM LVTS U1148, Paris 75018, France

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http://dx.doi.org/10.1093/eurheartj/ehv151DOI Listing
August 2015

Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14.

Front Genet 2015 12;6:67. Epub 2015 Mar 12.

Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco San Francisco, CA, USA ; Institute of Human Genetics, University of California, San Francisco San Francisco, CA, USA ; Department of Anatomy, University of California, San Francisco San Francisco, CA, USA.

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http://dx.doi.org/10.3389/fgene.2015.00067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4357294PMC
March 2015

Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function.

Hum Mol Genet 2015 Feb 13;24(4):1142-54. Epub 2014 Oct 13.

Inserm, U1036, Grenoble F-38000, France, CEA, DSV, iRTSV, Laboratoire Biologie du Cancer et de L'Infection, Grenoble F-38000, France, University Grenoble-Alpes, Grenoble F-38000, France,

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http://hmg.oxfordjournals.org/content/early/2014/10/22/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu531
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http://dx.doi.org/10.1093/hmg/ddu531DOI Listing
February 2015

MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.

Am J Hum Genet 2014 Dec 26;95(6):736-43. Epub 2014 Nov 26.

INSERM U1148, Laboratory for Vascular Translational Science, Hôpital Bichat, Université Paris Diderot, Sorbonne Paris Cité, 75018 Paris, France; AP-HP, Département de Génétique, Hôpital Bichat, 75018 Paris, France; AP-HP, Centre de référence pour les syndromes de Marfan et apparentés, Service de Cardiologie, Hôpital Bichat, 75018 Paris, France; UFR de Médecine, Université Paris Diderot, 75018 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259978PMC
December 2014

Genetic variants of Adam17 differentially regulate TGFβ signaling to modify vascular pathology in mice and humans.

Proc Natl Acad Sci U S A 2014 May 8;111(21):7723-8. Epub 2014 May 8.

Helen Diller Family Comprehensive Cancer Center (HDFCCC) and Department of Anatomy, University of California, San Francisco, CA 94158-9001;Department of Anatomy, andInstitute of Human Genetics, University of California, San Francisco, CA 94143

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http://dx.doi.org/10.1073/pnas.1318761111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040598PMC
May 2014

ZEB2, a new candidate gene for asplenia.

Orphanet J Rare Dis 2014 Jan 8;9. Epub 2014 Jan 8.

Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Génétique et Centre de référence des anomalies du développement, Bron F-69677, France.

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http://dx.doi.org/10.1186/1750-1172-9-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3891986PMC
January 2014

The psychological impact of cryptic chromosomal abnormalities diagnosis announcement.

Eur J Med Genet 2013 Nov 17;56(11):585-90. Epub 2013 Sep 17.

Centre de référence des anomalies du développement, Service de Génétique, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1016/j.ejmg.2013.09.002DOI Listing
November 2013

Hereditary hemorrhagic telangiectasia, liver vascular malformations and cardiac consequences.

Eur J Intern Med 2013 Apr 9;24(3):e35-9. Epub 2013 Jan 9.

Hospices Civils de Lyon, Service d'Explorations Cardiologiques, Centre Hospitalier Lyon Sud, Pierre-Bénite, France.

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http://dx.doi.org/10.1016/j.ejim.2012.12.013DOI Listing
April 2013

[Anti-VEGF: a new therapeutic option in hereditary hemorrhagic telangiectasia].

Presse Med 2013 Apr 18;42(4 Pt 1):385-7. Epub 2013 Feb 18.

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http://dx.doi.org/10.1016/j.lpm.2012.11.009DOI Listing
April 2013

Cerebral abscesses in hereditary haemorrhagic telangiectasia: a clinical and microbiological evaluation.

Clin Neurol Neurosurg 2012 Apr 16;114(3):235-40. Epub 2011 Nov 16.

Department of Neurology, CHU Poitiers, Université de Poitiers, 2 rue de la Milétrie, 86021 Poitiers, France.

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http://dx.doi.org/10.1016/j.clineuro.2011.10.036DOI Listing
April 2012

Occurrence of aortic aneurysms in 5 cases of Wiskott-Aldrich syndrome.

Pediatrics 2011 Feb 24;127(2):e498-504. Epub 2011 Jan 24.

Department of Pediatrics, Unité d'Hématologie-Immunologie-Oncologie Pédiatrique, Centre Hospitalier Universitaire d'Angers, Angers, France.

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http://dx.doi.org/10.1542/peds.2009-2987DOI Listing
February 2011

[Rendu-Osler disease: clinical and molecular update].

Med Sci (Paris) 2010 Oct;26(10):855-60

Inserm, U878, 17, rue des Martyrs, 38054 Grenoble, Commissariat à l'énergie atomique et aux énergies alternatives (CEAEA), Institut de recherches en technologies et sciences pour le vivant (iRTSV)/laboratoire angiogenèse et physiopathologie vasculaire (LAPV), Université Joseph Fourier, Grenoble, France.

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http://dx.doi.org/10.1051/medsci/20102610855DOI Listing
October 2010

[Hereditary hemorrhagic telangiectasia].

Rev Prat 2009 Sep;59(7):899-903

Centre national de références Maladie de Rendu-Osler, Service de génétique clinique, hôpital Hôtel-Dieu, Université Claude Bernard-Lyon 1,69288 Lyon Cedex 02, France.

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September 2009

Acute paraplegia due to spinal arteriovenous fistula in two patients with hereditary hemorrhagic telangiectasia.

Eur J Pediatr 2009 Feb 20;168(2):135-9. Epub 2008 Nov 20.

Hospices Civils de Lyon, Service de Génétique et centre de référence national pour la maladie de Rendu-Osler, Hôpital de l'Hôtel Dieu, 1, place de l'Hôpital, 69288 Lyon Cedex 02, France.

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http://link.springer.com/10.1007/s00431-008-0863-2
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http://dx.doi.org/10.1007/s00431-008-0863-2DOI Listing
February 2009

Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.

Eur J Hum Genet 2008 Jun 20;16(6):742-9. Epub 2008 Feb 20.

Service de Génétique Moléculaire et Clinique, Hôpital Edouard Herriot, Université de Lyon, Université Lyon 1, 5 Place d'Arsonval, Lyon, France.

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http://dx.doi.org/10.1038/ejhg.2008.3DOI Listing
June 2008

Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease).

Respiration 2007 ;74(4):361-78

Reference Center for Orphan Lung Disorders, Louis Pradel Hospital, Hospices Civils de Lyon, University Lyon I, Research Network on Rendu-Osler Disease, Lyon, France.

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http://dx.doi.org/10.1159/000103205DOI Listing
September 2007

Hemorrhagic hereditary telangiectasia (Rendu-Osler disease) and infectious diseases: an underestimated association.

Clin Infect Dis 2007 Mar 1;44(6):841-5. Epub 2007 Feb 1.

Service de Génétique et Centre de Référence sur la Maladie de Rendu-Osler, Hôpital de l'Hôtel Dieu, Lyon, France.

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http://dx.doi.org/10.1086/511645DOI Listing
March 2007

Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency.

Pediatrics 2006 Jul 12;118(1):e205-11. Epub 2006 Jun 12.

Unité d'Immunologie et d'Hématologie Pédiatriques, Institut National de la Santé et de la Recherche Médicale U429, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1542/peds.2005-2661DOI Listing
July 2006

NEMO mutations in 2 unrelated boys with severe infections and conical teeth.

Pediatrics 2005 May 15;115(5):e615-9. Epub 2005 Apr 15.

Laboratory of Human Genetics of Infectious Diseases, University of Paris René Descartes-Institut National de la Santé et de la Recherche Médicale U550, Necker Medical School, Paris, France.

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http://dx.doi.org/10.1542/peds.2004-1754DOI Listing
May 2005

Thrombocytosis and toxocariasis: report of two pediatric cases.

Pediatr Blood Cancer 2005 Feb;44(2):190-2

Hematology Laboratory, Hôpital Debrousse, Lyon, France.

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http://dx.doi.org/10.1002/pbc.20222DOI Listing
February 2005

Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease).

Eur J Pediatr 2005 Feb 20;164(2):104-7. Epub 2004 Nov 20.

Immuno-hématologie Pédiatrique et transplantation de moelle osseuse, Hôpital Debrousse, 29 rue Soeur Bouvier, 6932 Lyon Cedex 05, France.

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http://dx.doi.org/10.1007/s00431-004-1575-xDOI Listing
February 2005