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Pascal Brouillard

Showing results (21-30 of 40) with videos related to

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Journal of Medical Genetics|May 24, 2023
Ureteropelvic junction obstruction with primary lymphoedema associated with <i>CELSR1</i> variantsMurat Alpaslan, Sandrine Mestré-Godin, Aurélie Lay, et al.
Journal of Medical Genetics|July 14, 2019
<i>RASA1</i> mosaic mutations in patients with capillary malformation-arteriovenous malformationNicole Revencu, Elodie Fastre, Marie Ravoet, et al.
American Journal of Human Genetics|February 5, 2013
Somatic uniparental isodisomy explains multifocality of glomuvenous malformationsMustapha Amyere, Virginie Aerts, Pascal Brouillard, et al.
Nature Communications|June 10, 2020
Blockade of VEGF-C signaling inhibits lymphatic malformations driven by oncogenic PIK3CA mutationInes Martinez-Corral, Yan Zhang, Milena Petkova, et al.
Tropical Medicine and Infectious Disease|February 20, 2020
First Draft Genome of the Trypanosomatid <i>Herpetomonas muscarum ingenoplastis</i> through MinION Oxford Nanopore Technology and Illumina SequencingClaudia M d'Avila-Levy, Bertrand Bearzatto, Jérôme Ambroise, et al.
The Journal of Investigative Dermatology|March 2, 2024
Somatic Loss-of-Function PIK3R1 and Activating Non-hotspot PIK3CA Mutations Associated with Capillary Malformation with Dilated Veins (CMDV)Martina De Bortoli, Angela Queisser, Van Cuong Pham, et al.
The Journal of Clinical Investigation|May 31, 2024
Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedemaPascal Brouillard, Aino Murtomäki, Veli-Matti Leppänen, et al.
Orphanet Journal of Rare Diseases|June 11, 2021
Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformationsPascal Brouillard, Matthieu J Schlögel, Nassim Homayun Sepehr, et al.
Hematology (Amsterdam, Netherlands)|March 9, 2017
GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndromeAniel Jessica Leticia Brambila-Tapia, José Elías García-Ortiz, Pascal Brouillard, et al.
Blood Advances|February 8, 2023
Splenectomy improves erythrocyte functionality in spherocytosis based on septin abundance, but not maturation defectsAnne-Sophie Cloos, Hélène Pollet, Amaury Stommen, et al.
Pageof 4

Showing results (21-30 of 40) with videos related to

Sort By:
Pageof 4
Journal of Medical Genetics|May 24, 2023
Ureteropelvic junction obstruction with primary lymphoedema associated with <i>CELSR1</i> variantsMurat Alpaslan, Sandrine Mestré-Godin, Aurélie Lay, et al.
Journal of Medical Genetics|July 14, 2019
<i>RASA1</i> mosaic mutations in patients with capillary malformation-arteriovenous malformationNicole Revencu, Elodie Fastre, Marie Ravoet, et al.
American Journal of Human Genetics|February 5, 2013
Somatic uniparental isodisomy explains multifocality of glomuvenous malformationsMustapha Amyere, Virginie Aerts, Pascal Brouillard, et al.
Nature Communications|June 10, 2020
Blockade of VEGF-C signaling inhibits lymphatic malformations driven by oncogenic PIK3CA mutationInes Martinez-Corral, Yan Zhang, Milena Petkova, et al.
Tropical Medicine and Infectious Disease|February 20, 2020
First Draft Genome of the Trypanosomatid <i>Herpetomonas muscarum ingenoplastis</i> through MinION Oxford Nanopore Technology and Illumina SequencingClaudia M d'Avila-Levy, Bertrand Bearzatto, Jérôme Ambroise, et al.
The Journal of Investigative Dermatology|March 2, 2024
Somatic Loss-of-Function PIK3R1 and Activating Non-hotspot PIK3CA Mutations Associated with Capillary Malformation with Dilated Veins (CMDV)Martina De Bortoli, Angela Queisser, Van Cuong Pham, et al.
The Journal of Clinical Investigation|May 31, 2024
Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedemaPascal Brouillard, Aino Murtomäki, Veli-Matti Leppänen, et al.
Orphanet Journal of Rare Diseases|June 11, 2021
Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformationsPascal Brouillard, Matthieu J Schlögel, Nassim Homayun Sepehr, et al.
Hematology (Amsterdam, Netherlands)|March 9, 2017
GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndromeAniel Jessica Leticia Brambila-Tapia, José Elías García-Ortiz, Pascal Brouillard, et al.
Blood Advances|February 8, 2023
Splenectomy improves erythrocyte functionality in spherocytosis based on septin abundance, but not maturation defectsAnne-Sophie Cloos, Hélène Pollet, Amaury Stommen, et al.
Pageof 4