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List of works by Sophie Dupuis-Girod

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

scientific article

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

scientific article

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

scientific article

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

scientific article

Anti-VEGF: a new therapeutic option in hereditary hemorrhagic telangiectasia ⬇️

scientific article published on February 18, 2013

Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients

scientific article

Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output

scientific article

Bone morphogenetic protein-9 is a circulating vascular quiescence factor

scientific article

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

scientific article published on 16 November 2011

Differential susceptibility of adenovirus clinical isolates to cidofovir and ribavirin is not related to species alone.

scientific article published on January 2009

Dose - response relationship of bevacizumab in hereditary hemorrhagic telangiectasia

scientific article

ELLIPSE Study: a Phase 1 study evaluating the tolerance of bevacizumab nasal spray in the treatment of epistaxis in hereditary hemorrhagic telangiectasia

scientific article

Effect of Bevacizumab Nasal Spray on Epistaxis Duration in Hereditary Hemorrhagic Telangectasia: A Randomized Clinical Trial.

scientific article published on September 2016

Efficacy and Safety of a 0.1% Tacrolimus Nasal Ointment as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia: A Double-Blind, Randomized, Placebo-Controlled, Multicenter Trial

scientific article published on 26 April 2020

Embolization of Recurrent Pulmonary Arteriovenous Malformations by Ethylene Vinyl Alcohol Copolymer (Onyx®) in Hereditary Hemorrhagic Telangiectasia: Safety and Efficacy

scientific article published on 01 July 2022

Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences.

scientific article published on November 2008

Ex vivo study of bevacizumab transport through porcine nasal mucosa

scientific article published on 18 November 2011

Executive summary of the 12th HHT international scientific conference.

scientific article published on 16 November 2017

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

scientific article published on 13 October 2014

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

scientific article

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

scientific article

Growth hormone deficiency caused by pituitary stalk interruption in Fanconi's anemia

scientific article

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations.

scientific article published on 5 July 2017

Hemorrhagic Hereditary Telangiectasia (Rendu-Osler Disease) and Infectious Diseases: An Underestimated Association

scientific article published on 01 February 2007

Hereditary haemorrhagic telangiectasia and pregnancy: a review of the literature

scientific article published on 07 January 2020

Hereditary hemorrhagic telangiectasia, liver vascular malformations and cardiac consequences

scientific article published on 9 January 2013

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

scientific article

Hereditary hemorrhagic telangiectasia: from molecular biology to patient care.

scientific article

Hereditary hemorrhagic telangiectasia: to transplant or not to transplant?

scientific article published in December 2016

High diagnostic and clinical impact of small-bowel capsule endoscopy in patients with hereditary hemorrhagic telangiectasia with overt digestive bleeding and/or severe anemia

scientific article published on 18 February 2010

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

scientific article published on 31 August 2016

How to improve specific databases for clinical data in rare diseases? The example of hereditary haemorrhagic telangiectasia.

scientific article

Immunological abnormalities associated with hereditary haemorrhagic telangiectasia

scientific article published on 4 July 2013

In vitro susceptibility of adenovirus to antiviral drugs is species-dependent.

scientific article

International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).

scientific article published on 21 November 2016

Long-term outcome of patients with hereditary hemorrhagic telangiectasia and severe hepatic involvement after orthotopic liver transplantation: a single-center study

scientific article

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

scientific article

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

scientific article published on 2 May 2015

NEMO Mutations in 2 Unrelated Boys With Severe Infections and Conical Teeth

scientific article published on 15 April 2005

Near-fatal haemorrhage from pulmonary arteriovenous malformation in HHT with increased cardiac output

scientific article published on 01 September 2009

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

scientific article published on 23 November 2011

Occurrence of Aortic Aneurysms in 5 Cases of Wiskott-Aldrich Syndrome

scientific article published on 24 January 2011

Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother

scientific article published in June 2002

Pregnancy and Ehlers-Danlos vascular syndrome: patients' care and complications

scientific article published on 2 October 2012

Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: follow-up and pathophysiologic considerations

scientific article published in July 2007

Rendu-Osler disease: clinical and molecular update

scientific article published on October 2010

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

scientific article published in June 2017

Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia

scientific article published on 08 September 2020

Successful Allogeneic Hemopoietic Stem Cell Transplantation in a Child Who Had Anhidrotic Ectodermal Dysplasia With Immunodeficiency

article by Sophie Dupuis-Girod et al published 12 June 2006 in Pediatrics

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

scientific article published on 20 November 2004

Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy

scientific article (publication date: 18 April 2002)

The psychological impact of cryptic chromosomal abnormalities diagnosis announcement.

scientific article published on 17 September 2013

Thrombocytosis and toxocariasis: report of two pediatric cases.

scientific article published on February 2005

Tranexamic acid for epistaxis in hereditary hemorrhagic telangiectasia patients: a European cross-over controlled trial in a rare disease.

scientific article

Treatment of the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (IPEX) by Allogeneic Bone Marrow Transplantation

article

Will high dose chemotherapy followed by autologous bone marrow transplantation supplant cranio-spinal irradiation in young children treated for medulloblastoma?

scientific article published in January 1996

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

scientific article (publication date: March 2001)

ZEB2, a new candidate gene for asplenia

scientific article published on 8 January 2014

[Hereditary hemorrhagic telangiectasia]

scientific article published on 01 September 2009

[High-dose chemotherapy in relapse of medulloblastoma in young children]

scientific article published in March 1997

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