Bruyere H - Search Results

1

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

Strømme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lütcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gécz J. Strømme P, et al. Among authors: bruyere h. Nat Genet. 2002 Apr;30(4):441-5. doi: 10.1038/ng862. Epub 2002 Mar 11. Nat Genet. 2002. PMID: 11889467

2

Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1.

Bruyere H, Lewis S, Wood S, MacLeod PJ, Langlois S. Bruyere H, et al. Clin Genet. 1999 Mar;55(3):173-81. doi: 10.1034/j.1399-0004.1999.550305.x. Clin Genet. 1999. PMID: 10334471

3

An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta.

Peñaherrera MS, Barrett IJ, Brown CJ, Langlois S, Yong SL, Lewis S, Bruyère H, Howard-Peebles PN, Kalousek DK, Robinson WP. Peñaherrera MS, et al. Among authors: bruyere h. Clin Genet. 2000 Dec;58(6):436-46. doi: 10.1034/j.1399-0004.2000.580603.x. Clin Genet. 2000. PMID: 11149612

4

Increasing evidence for a new X-linked mental retardation/epilepsy gene localized to Xp21.3-Xp22.1.

Bruyère H, Lewis ME, Wood S, MacLeod P, Langlois S. Bruyère H, et al. Am J Med Genet. 1999 Oct 8;86(4):401. Am J Med Genet. 1999. PMID: 10494100 No abstract available.

5

Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line.

Bruyère H, Rupps R, Kuchinka BD, Friedman JM, Robinson WP. Bruyère H, et al. Am J Med Genet. 2000 Sep 4;94(1):35-41. doi: 10.1002/1096-8628(20000904)94:1<35::aid-ajmg8>3.0.co;2-9. Am J Med Genet. 2000. PMID: 10982480

6

Recurrent trisomy 21: four cases in three generations.

Gair JL, Arbour L, Rupps R, Jiang R, Bruyère H, Robinson WP. Gair JL, et al. Among authors: bruyere h. Clin Genet. 2005 Nov;68(5):430-5. doi: 10.1111/j.1399-0004.2005.00512.x. Clin Genet. 2005. PMID: 16207210

7

Molecular cytogenetics in reproductive pathology.

Bruyère H, Rajcan-Separovic E, Kalousek DK. Bruyère H, et al. Methods Mol Biol. 2002;204:299-307. doi: 10.1385/1-59259-300-3:299. Methods Mol Biol. 2002. PMID: 12397806

8

Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia.

Akkari YMN, Bruyere H, Hagelstrom RT, Kanagal-Shamanna R, Liu J, Luo M, Mikhail FM, Pitel BA, Raca G, Shago M, Shao L, Smith LR, Smolarek TA, Yenamandra A, Baughn LB. Akkari YMN, et al. Among authors: bruyere h. Cancer Genet. 2020 May;243:52-72. doi: 10.1016/j.cancergen.2020.03.001. Epub 2020 Mar 21. Cancer Genet. 2020. PMID: 32302940 Review.

9

V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity.

Huculak C, Bruyere H, Nelson TN, Kozak FK, Langlois S. Huculak C, et al. Among authors: bruyere h. Am J Med Genet A. 2006 Nov 15;140(22):2394-400. doi: 10.1002/ajmg.a.31486. Am J Med Genet A. 2006. PMID: 17036313

10

Population-based characterization of the genetic landscape of chronic lymphocytic leukemia patients referred for cytogenetic testing in British Columbia, Canada: the role of provincial laboratory standardization.

Gerrie AS, Huang SJ, Bruyere H, Dalal C, Hrynchak M, Karsan A, Ramadan KM, Smith AC, Tyson C, Toze CL, Gillan TL. Gerrie AS, et al. Among authors: bruyere h. Cancer Genet. 2014 Jul-Aug;207(7-8):316-25. doi: 10.1016/j.cancergen.2014.08.006. Epub 2014 Aug 29. Cancer Genet. 2014. PMID: 25441686

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