Search Results - "Brouillard, Pascal"

Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.

Authors: Brouillard, Pascal Schlögel, Matthieu J. Homayun Sepehr, Nassim et al.

Source: Orphanet Journal of Rare Diseases. 6/10/2021, Vol. 16 Issue 1, p1-12. 12p.

Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema.

Authors: Brouillard, Pascal Murtomäki, Aino Leppänen, Veli-Matti et al.

Source: Journal of Clinical Investigation. 7/15/2024, Vol. 134 Issue 14, p1-15. 15p.

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EPHB4 mutation causes adult and adolescent‐onset primary lymphedema.

Authors: Greene, Arin K. Brouillard, Pascal Sudduth, Christopher L. et al.

Source: American Journal of Medical Genetics. Part A; Dec2021, Vol. 185 Issue 12, p3810-3813, 4p

Linkage disequilibrium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YAC.

Authors: Irrthum, Alexandre Brouillard, Pascal Enjolras, Odile et al.

Source: European Journal of Human Genetics. Jan2001, Vol. 9 Issue 1, p34. 5p.

Hypotrichosis‐lymphedema‐telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.

Authors: Coulie, Richard Niyazov, Dmitriy M. Gambello, Michael J. et al.

Source: American Journal of Medical Genetics. Part A; Jul2021, Vol. 185 Issue 7, p2153-2159, 7p

Clinical Characterization of Atypical Diabetes: Insights from the GENEPEDIAB Study into the Spectrum Between Type 1 and Monogenic Diabetes.

Authors: Harvengt, Antoine Pirlot, Gauthier Denizli, Leyan et al.

Source: Cells (2073-4409). Mar2026, Vol. 15 Issue 5, p484. 20p.

Genetics of lymphatic anomalies.

Authors: Brouillard, Pascal Boon, Laurence Vikkula, Miikka

Source: Journal of Clinical Investigation. Mar2014, Vol. 124 Issue 3, p898-904. 7p.

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

Authors: Butler, Matthew G. Dagenais, Susan L. Garcia-Perez, José L. et al.

Source: American Journal of Medical Genetics. Part A; Apr2012, Vol. 158A Issue 4, p839-849, 11p

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

Authors: McIntyre, Brendan A.S. Brouillard, Pascal Aerts, Virginie et al.

Source: Gene Expression Patterns. May2004, Vol. 4 Issue 3, p351. 8p.

A New Tool to Identify Pediatric Patients with Atypical Diabetes Associated with Gene Polymorphisms.

Authors: Welsch, Sophie Harvengt, Antoine Gallo, Paola et al.

Source: Diabetes & Metabolism Journal. Sep2024, Vol. 48 Issue 5, p949-959. 12p.

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

Authors: Brambila-Tapia, Aniel Jessica Leticia García-Ortiz, José Elías Brouillard, Pascal et al.

Source: Hematology. Sep2017, Vol. 22 Issue 8, p467-471. 5p.

Targeting uPARAP Modifies Lymphatic Vessel Architecture and Attenuates Lymphedema.

Authors: Gucciardo, Fabrice Lebeau, Alizée Pirson, Sébastien et al.

Source: Circulation. 5/13/2025, Vol. 151 Issue 19, p1412-1429. 18p.

An endothelial SOX18-mevalonate pathway axis enables repurposing of statins for infantile hemangioma.

Authors: Holm, Annegret Graus, Matthew S. Wylie-Sears, Jill et al.

Source: Journal of Clinical Investigation. 4/1/2025, Vol. 135 Issue 7, p1-17. 18p.

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

Authors: Schlögel, Matthieu J. Mendola, Antonella Fastré, Elodie et al.

Source: Orphanet Journal of Rare Diseases. Jun2015, Vol. 10 Issue 1, p1-11. 11p.

Angiosarcoma arising from congenital primary lymphedema.

Authors: Janssens, Pauline Dekeuleneer, Valérie Van Damme, An et al.

Source: Pediatric Dermatology. Nov2018, Vol. 35 Issue 6, pe382-e388. 7p. 1 Color Photograph, 1 Diagram, 2 Charts.

Aberrant Membrane Composition and Biophysical Properties Impair Erythrocyte Morphology and Functionality in Elliptocytosis.

Authors: Pollet, Hélène Cloos, Anne-Sophie Stommen, Amaury et al.

Source: Biomolecules (2218-273X). Aug2020, Vol. 10 Issue 8, p1120. 1p.

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

Authors: Goujon, Elisa Cordoro, Kelly M. Barat, Muriel et al.

Source: Pediatric Dermatology. Sep/Oct2011, Vol. 28 Issue 5, p528-531. 4p. 3 Color Photographs.