Bruyère H - Search Results

1

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

2

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

3

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

4

Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism.

Robinson WP, McFadden DE, Barrett IJ, Kuchinka B, Peñaherrera MS, Bruyère H, Best RG, Pedreira DA, Langlois S, Kalousek DK. Robinson WP, et al. Among authors: bruyere h. Prenat Diagn. 2002 Dec;22(12):1076-85. doi: 10.1002/pd.483. Prenat Diagn. 2002. PMID: 12454962

5

Cytogenetic and molecular study of a premature male infant with 46,XX derived from ICSI: case report.

Ma S, Tang SS, Yuen BH, Bruyere H, Peñaherrera M, Robinson WP. Ma S, et al. Among authors: bruyere h. Hum Reprod. 2003 Nov;18(11):2298-301. doi: 10.1093/humrep/deg462. Hum Reprod. 2003. PMID: 14585877

6

Risk of mosaicism and uniparental disomy associated with the prenatal diagnosis of a non-homologous Robertsonian translocation carrier.

Bruyère H, Wilson RD, Langlois S. Bruyère H, et al. Fetal Diagn Ther. 2004 Sep-Oct;19(5):399-403. doi: 10.1159/000078991. Fetal Diagn Ther. 2004. PMID: 15305095 Review.

7

BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1).

Schlade-Bartusiak K, Brown L, Lomax B, Bruyère H, Gillan T, Hamilton S, McGillivray B, Eydoux P. Schlade-Bartusiak K, et al. Among authors: bruyere h. Am J Med Genet A. 2012 Sep;158A(9):2322-7. doi: 10.1002/ajmg.a.35516. Epub 2012 Aug 6. Am J Med Genet A. 2012. PMID: 22887799

8

Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions.

Bruyere H, Rajcan-Separovic E, Doyle J, Pantzar T, Langlois S. Bruyere H, et al. Am J Med Genet A. 2003 Dec 15;123A(3):285-9. doi: 10.1002/ajmg.a.20228. Am J Med Genet A. 2003. PMID: 14608651

9

Isodicentric Yp: prenatal diagnosis and outcome in 12 cases.

Bruyère H, Speevak MD, Winsor EJ, de Fréminville B, Farrell SA, McGowan-Jordan J, McGillivray B, Chitayat D, McFadden D, Adouard V, Terespolsky D, Prieur F, Pantzar T, Hrynchak M. Bruyère H, et al. Prenat Diagn. 2006 Apr;26(4):324-9. doi: 10.1002/pd.1406. Prenat Diagn. 2006. PMID: 16521154 Review.

10

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

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