about
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndromeMutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas")A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22.Genetics of lymphatic anomaliesEfficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1High-resolution physical and transcript map of the locus for venous malformations with glomus cells (VMGLOM) on chromosome 1p21-p22.Vascular malformations: localized defects in vascular morphogenesis.Glomulin is predominantly expressed in vascular smooth muscle cells in the embryonic and adult mouse.Somatic uniparental isodisomy explains multifocality of glomuvenous malformations.Genotypes and phenotypes of 162 families with a glomulin mutation.Genetic causes of vascular malformations.GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome.Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedemaHypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene.Reconstructive surgery in the management of a patient with CLOVES syndrome.Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation.Antenatal presentation of hereditary lymphedema type I.Genetic Causes of LymphedemaDisorders of the Venous SystemCongenital Plaque-Type Glomuvenous Malformations Associated with Fetal Pleural Effusion and AscitesBlockade of VEGF-C signaling inhibits lymphatic malformations driven by oncogenic PIK3CA mutation
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description
hulumtues
@sq
researcher
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wetenschapper
@nl
հետազոտող
@hy
name
Pascal Brouillard
@ast
Pascal Brouillard
@en
Pascal Brouillard
@es
Pascal Brouillard
@fr
Pascal Brouillard
@nl
Pascal Brouillard
@sl
type
label
Pascal Brouillard
@ast
Pascal Brouillard
@en
Pascal Brouillard
@es
Pascal Brouillard
@fr
Pascal Brouillard
@nl
Pascal Brouillard
@sl
prefLabel
Pascal Brouillard
@ast
Pascal Brouillard
@en
Pascal Brouillard
@es
Pascal Brouillard
@fr
Pascal Brouillard
@nl
Pascal Brouillard
@sl
P106
P1153
6506658210
P21
P31
P496
0000-0001-9548-8229
P569
2000-01-01T00:00:00Z