Brouillard P - Search Results

1

Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis.

Smeland MF, Brouillard P, Prescott T, Boon LM, Hvingel B, Nordbakken CV, Nystad M, Holla ØL, Vikkula M. Smeland MF, et al. Among authors: brouillard p. J Med Genet. 2023 Jan;60(1):57-64. doi: 10.1136/jmedgenet-2021-108179. Epub 2021 Dec 7. J Med Genet. 2023. PMID: 34876502 Free PMC article.

2

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

Boon LM, Brouillard P, Irrthum A, Karttunen L, Warman ML, Rudolph R, Mulliken JB, Olsen BR, Vikkula M. Boon LM, et al. Among authors: brouillard p. Am J Hum Genet. 1999 Jul;65(1):125-33. doi: 10.1086/302450. Am J Hum Genet. 1999. PMID: 10364524 Free PMC article.

3

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

Brouillard P, Olsen BR, Vikkula M. Brouillard P, et al. Genomics. 2000 Jul 1;67(1):96-101. doi: 10.1006/geno.2000.6232. Genomics. 2000. PMID: 10945476

4

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

Irrthum A, Brouillard P, Enjolras O, Gibbs NF, Eichenfield LF, Olsen BR, Mulliken JB, Boon LM, Vikkula M. Irrthum A, et al. Among authors: brouillard p. Eur J Hum Genet. 2001 Jan;9(1):34-8. doi: 10.1038/sj.ejhg.5200576. Eur J Hum Genet. 2001. PMID: 11175297

5

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

Brouillard P, Boon LM, Mulliken JB, Enjolras O, Ghassibé M, Warman ML, Tan OT, Olsen BR, Vikkula M. Brouillard P, et al. Am J Hum Genet. 2002 Apr;70(4):866-74. doi: 10.1086/339492. Epub 2002 Feb 13. Am J Hum Genet. 2002. PMID: 11845407 Free PMC article.

6

Vascular malformations: localized defects in vascular morphogenesis.

Brouillard P, Vikkula M. Brouillard P, et al. Clin Genet. 2003 May;63(5):340-51. doi: 10.1034/j.1399-0004.2003.00092.x. Clin Genet. 2003. PMID: 12752563 Review.

7

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

McIntyre BA, Brouillard P, Aerts V, Gutierrez-Roelens I, Vikkula M. McIntyre BA, et al. Among authors: brouillard p. Gene Expr Patterns. 2004 May;4(3):351-8. doi: 10.1016/j.modgep.2003.09.007. Gene Expr Patterns. 2004. PMID: 15053987

8

Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect.

Brouillard P, Ghassibé M, Penington A, Boon LM, Dompmartin A, Temple IK, Cordisco M, Adams D, Piette F, Harper JI, Syed S, Boralevi F, Taïeb A, Danda S, Baselga E, Enjolras O, Mulliken JB, Vikkula M. Brouillard P, et al. J Med Genet. 2005 Feb;42(2):e13. doi: 10.1136/jmg.2004.024174. J Med Genet. 2005. PMID: 15689436 Free PMC article.

9

Genetic causes of vascular malformations.

Brouillard P, Vikkula M. Brouillard P, et al. Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R140-9. doi: 10.1093/hmg/ddm211. Epub 2007 Jul 31. Hum Mol Genet. 2007. PMID: 17670762 Review.

10

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

Butler MG, Dagenais SL, Garcia-Perez JL, Brouillard P, Vikkula M, Strouse P, Innis JW, Glover TW. Butler MG, et al. Among authors: brouillard p. Am J Med Genet A. 2012 Apr;158A(4):839-49. doi: 10.1002/ajmg.a.35229. Epub 2012 Mar 9. Am J Med Genet A. 2012. PMID: 22407726 Free PMC article.

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