Howard-Peebles PN - Search Results

1

Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases.

Kalousek DK, Langlois S, Robinson WP, Telenius A, Bernard L, Barrett IJ, Howard-Peebles PN, Wilson RD. Kalousek DK, et al. Am J Med Genet. 1996 Nov 11;65(4):348-52. doi: 10.1002/(SICI)1096-8628(19961111)65:4<348::AID-AJMG19>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8923948

2

Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction.

Robinson WP, Barrett IJ, Bernard L, Telenius A, Bernasconi F, Wilson RD, Best RG, Howard-Peebles PN, Langlois S, Kalousek DK. Robinson WP, et al. Am J Hum Genet. 1997 Apr;60(4):917-27. Am J Hum Genet. 1997. PMID: 9106539 Free PMC article.

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

4

Uniparental disomy for chromosome 16 in humans.

Kalousek DK, Langlois S, Barrett I, Yam I, Wilson DR, Howard-Peebles PN, Johnson MP, Giorgiutti E. Kalousek DK, et al. Am J Hum Genet. 1993 Jan;52(1):8-16. Am J Hum Genet. 1993. PMID: 8434609 Free PMC article.

5

Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism.

Kalousek DK, Howard-Peebles PN, Olson SB, Barrett IJ, Dorfmann A, Black SH, Schulman JD, Wilson RD. Kalousek DK, et al. Prenat Diagn. 1991 Oct;11(10):743-50. doi: 10.1002/pd.1970111002. Prenat Diagn. 1991. PMID: 1800987

6

Complementary duplication and deletion of 17 (pcen----p11.2): a family with a supernumerary chromosome comprised of an interstitially deleted segment.

Friedman JM, Harrod MJ, Howard-Peebles PN. Friedman JM, et al. Am J Med Genet. 1992 Sep 1;44(1):37-40. doi: 10.1002/ajmg.1320440109. Am J Med Genet. 1992. PMID: 1519647

7

Recent experience in prenatal diagnosis of fragile X.

Howard-Peebles PN, Maddalena A. Howard-Peebles PN, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):162-6. doi: 10.1002/ajmg.1320430126. Am J Med Genet. 1992. PMID: 1605186

8

Prenatal diagnosis in known fragile X carriers.

Maddalena A, Hicks BD, Spence WC, Levinson G, Howard-Peebles PN. Maddalena A, et al. Am J Med Genet. 1994 Jul 15;51(4):490-6. doi: 10.1002/ajmg.1320510439. Am J Med Genet. 1994. PMID: 7943026

9

Molecular fragile X screening in normal populations.

Spence WC, Black SH, Fallon L, Maddalena A, Cummings E, Menapace-Drew G, Bick DP, Levinson G, Schulman JD, Howard-Peebles PN. Spence WC, et al. Am J Med Genet. 1996 Jul 12;64(1):181-3. doi: 10.1002/(SICI)1096-8628(19960712)64:1<181::AID-AJMG31>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8826471

10

A fragile X mosaic male with a cryptic full mutation detected in epithelium but not in blood.

Maddalena A, Yadvish KN, Spence WC, Howard-Peebles PN. Maddalena A, et al. Am J Med Genet. 1996 Aug 9;64(2):309-12. doi: 10.1002/(SICI)1096-8628(19960809)64:2<309::AID-AJMG15>3.0.CO;2-J. Am J Med Genet. 1996. PMID: 8844071

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