Lista de obras - Sophie Dupuis-Girod - Dominio Público Uruguay

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

artículo científico publicado en 2015

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

artículo científico publicado en 2003

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 2003

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

artículo científico publicado en 2012

Bone morphogenetic protein-9 is a circulating vascular quiescence factor

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

Dose - response relationship of bevacizumab in hereditary hemorrhagic telangiectasia

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico

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

artículo científico publicado en 2022

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

artículo científico publicado en 2008

Ex vivo study of bevacizumab transport through porcine nasal mucosa

artículo científico publicado en 2011

Executive summary of the 12th HHT international scientific conference.

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2001

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

Hereditary hemorrhagic telangiectasia: from molecular biology to patient care.

artículo científico publicado en 2010

Hereditary hemorrhagic telangiectasia: to transplant or not to transplant?

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

Immunological abnormalities associated with hereditary haemorrhagic telangiectasia

artículo científico publicado en 2013

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

artículo científico publicado en 2005

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2005

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

artículo científico publicado en 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

artículo científico publicado en 2002

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

artículo científico publicado en 2012

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

artículo científico publicado en 2007

Rendu-Osler disease: clinical and molecular update

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 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)

artículo científico publicado en 2004

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

artículo científico publicado en 2002

The psychological impact of cryptic chromosomal abnormalities diagnosis announcement.

artículo científico publicado en 2013

Thrombocytosis and toxocariasis: report of two pediatric cases.

artículo científico publicado en 2005

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

artículo científico publicado en 2014

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?

artículo científico publicado en 1996

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

artículo científico publicado en 2001

ZEB2, a new candidate gene for asplenia

artículo científico publicado en 2014

[Hereditary hemorrhagic telangiectasia]

scientific article published on 01 September 2009

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

artículo científico publicado en 1997

Lista de obras de Sophie Dupuis-Girod

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

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

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

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

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

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

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

Bone morphogenetic protein-9 is a circulating vascular quiescence factor

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

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

Dose - response relationship of bevacizumab in hereditary hemorrhagic telangiectasia

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

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

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

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

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

Ex vivo study of bevacizumab transport through porcine nasal mucosa

Executive summary of the 12th HHT international scientific conference.

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

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

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

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

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

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

Hereditary haemorrhagic telangiectasia and pregnancy: a review of the literature

Hereditary hemorrhagic telangiectasia, liver vascular malformations and cardiac consequences

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

Hereditary hemorrhagic telangiectasia: from molecular biology to patient care.

Hereditary hemorrhagic telangiectasia: to transplant or not to transplant?

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

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

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

Immunological abnormalities associated with hereditary haemorrhagic telangiectasia

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

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

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

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

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

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

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

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

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

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

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

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

Rendu-Osler disease: clinical and molecular update

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

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

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

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

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

The psychological impact of cryptic chromosomal abnormalities diagnosis announcement.

Thrombocytosis and toxocariasis: report of two pediatric cases.

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

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

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

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

ZEB2, a new candidate gene for asplenia

[Hereditary hemorrhagic telangiectasia]

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