Lista de obras - Pascal Brouillard - Dominio Público Uruguay

A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22.

artículo científico publicado en 1999

Antenatal presentation of hereditary lymphedema type I.

artículo científico publicado en 2015

Blockade of VEGF-C signaling inhibits lymphatic malformations driven by oncogenic PIK3CA mutation

artículo científico publicado en 2020

Characterization of ANGPT2 mutations associated with primary lymphedema

scientific article published on 01 September 2020

Congenital Plaque-Type Glomuvenous Malformations Associated with Fetal Pleural Effusion and Ascites

artículo científico publicado en 2010

Disorders of the Venous System

Efficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1

artículo científico publicado en 2017

GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome.

artículo científico publicado en 2017

Genetic Causes of Lymphedema

Genetic causes of vascular malformations

artículo científico publicado en 2007

Genetics of lymphatic anomalies

artículo científico publicado en 2014

Genotypes and phenotypes of 162 families with a glomulin mutation

artículo científico publicado en 2013

Glomulin is predominantly expressed in vascular smooth muscle cells in the embryonic and adult mouse

artículo científico publicado en 2004

High-resolution physical and transcript map of the locus for venous malformations with glomus cells (VMGLOM) on chromosome 1p21-p22.

artículo científico publicado en 2000

Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene

artículo científico publicado en 2014

Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation.

artículo científico publicado en 2012

Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas")

artículo científico publicado en 2002

Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema

artículo científico publicado en 2013

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

artículo científico publicado en 2015

Reconstructive surgery in the management of a patient with CLOVES syndrome

artículo científico publicado en 2013

Somatic uniparental isodisomy explains multifocality of glomuvenous malformations

artículo científico publicado en 2013

Vascular malformations: localized defects in vascular morphogenesis

artículo científico publicado en 2003

Lista de obras de Pascal Brouillard

A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22.

Antenatal presentation of hereditary lymphedema type I.

Blockade of VEGF-C signaling inhibits lymphatic malformations driven by oncogenic PIK3CA mutation

Characterization of ANGPT2 mutations associated with primary lymphedema

Congenital Plaque-Type Glomuvenous Malformations Associated with Fetal Pleural Effusion and Ascites

Disorders of the Venous System

Efficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1

GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome.

Genetic Causes of Lymphedema

Genetic causes of vascular malformations

Genetics of lymphatic anomalies

Genotypes and phenotypes of 162 families with a glomulin mutation

Glomulin is predominantly expressed in vascular smooth muscle cells in the embryonic and adult mouse

High-resolution physical and transcript map of the locus for venous malformations with glomus cells (VMGLOM) on chromosome 1p21-p22.

Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene

Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation.

Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas")

Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Reconstructive surgery in the management of a patient with CLOVES syndrome

Somatic uniparental isodisomy explains multifocality of glomuvenous malformations

Vascular malformations: localized defects in vascular morphogenesis