Peñaherrera MS - Search Results

1

Whole exome sequencing of families with 1q21.1 microdeletion or microduplication.

Qiao Y, Badduke C, Tang F, Cowieson D, Martell S, Lewis SME, Peñaherrera MS, Robinson WP, Volchuk A, Rajcan-Separovic E. Qiao Y, et al. Among authors: penaherrera ms. Am J Med Genet A. 2017 Jul;173(7):1782-1791. doi: 10.1002/ajmg.a.38247. Epub 2017 May 5. Am J Med Genet A. 2017. PMID: 28475290

2

Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism.

Lau AW, Brown CJ, Peñaherrera M, Langlois S, Kalousek DK, Robinson WP. Lau AW, et al. Am J Hum Genet. 1997 Dec;61(6):1353-61. doi: 10.1086/301651. Am J Hum Genet. 1997. PMID: 9399909 Free PMC article.

3

The mechanisms involved in formation of deletions and duplications of 15q11-q13.

Robinson WP, Dutly F, Nicholls RD, Bernasconi F, Peñaherrera M, Michaelis RC, Abeliovich D, Schinzel AA. Robinson WP, et al. J Med Genet. 1998 Feb;35(2):130-6. doi: 10.1136/jmg.35.2.130. J Med Genet. 1998. PMID: 9580159 Free PMC article.

4

Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: comparison with non-UPD7 cases.

Bernard LE, Peñaherrera MS, Van Allen MI, Wang MS, Yong SL, Gareis F, Langlois S, Robinson WP. Bernard LE, et al. Among authors: penaherrera ms. Am J Med Genet. 1999 Nov 26;87(3):230-6. Am J Med Genet. 1999. PMID: 10564876

5

Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15.

Robinson WP, Christian SL, Kuchinka BD, Peñaherrera MS, Das S, Schuffenhauer S, Malcolm S, Schinzel AA, Hassold TJ, Ledbetter DH. Robinson WP, et al. Among authors: penaherrera ms. Clin Genet. 2000 May;57(5):349-58. doi: 10.1034/j.1399-0004.2000.570505.x. Clin Genet. 2000. PMID: 10852369

6

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. Clin Genet. 2000 Dec;58(6):436-46. doi: 10.1034/j.1399-0004.2000.580603.x. Clin Genet. 2000. PMID: 11149612

7

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: penaherrera ms. Prenat Diagn. 2002 Dec;22(12):1076-85. doi: 10.1002/pd.483. Prenat Diagn. 2002. PMID: 12454962

8

Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies.

Beever CL, Stephenson MD, Peñaherrera MS, Jiang RH, Kalousek DK, Hayden M, Field L, Brown CJ, Robinson WP. Beever CL, et al. Among authors: penaherrera ms. Am J Hum Genet. 2003 Feb;72(2):399-407. doi: 10.1086/346119. Epub 2002 Dec 20. Am J Hum Genet. 2003. PMID: 12497247 Free PMC article.

9

X-chromosome inactivation (XCI) patterns in placental tissues of a paternally derived bal t(X;20) case.

Peñaherrera MS, Ma S, Ho Yuen B, Brown CJ, Robinson WP. Peñaherrera MS, et al. Am J Med Genet A. 2003 Apr 1;118A(1):29-34. doi: 10.1002/ajmg.a.10041. Am J Med Genet A. 2003. PMID: 12605437

10

ICSI and the transmission of X-autosomal translocation: a three-generation evaluation of X;20 translocation: case report.

Ma S, Yuen BH, Penaherrera M, Koehn D, Ness L, Robinson W. Ma S, et al. Hum Reprod. 2003 Jul;18(7):1377-82. doi: 10.1093/humrep/deg247. Hum Reprod. 2003. PMID: 12832360

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