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Patricia N. Howard-Peebles
Researcher at Genetics and IVF Institute
Publications - 53
Citations - 2958
Patricia N. Howard-Peebles is an academic researcher from Genetics and IVF Institute. The author has contributed to research in topics: Fragile X syndrome & Intelligence quotient. The author has an hindex of 25, co-authored 53 publications receiving 2879 citations. Previous affiliations of Patricia N. Howard-Peebles include VCU Medical Center.
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Journal ArticleDOI
Mutations in SOX2 cause anophthalmia
J. Fantes,Nicola K Ragge,Nicola K Ragge,Sally-Ann Lynch,Niolette I. McGill,J. Richard O. Collin,Patricia N. Howard-Peebles,Caroline Hayward,Anthony J. Vivian,Kathy Williamson,Veronica van Heyningen,David R. FitzPatrick +11 more
TL;DR: A submicroscopic deletion containing SOX2 was identified at the 3q breakpoint in a child with t(3;11)(q26.3;p11.2) associated with bilateral anophthalmia and de novo truncating mutations ofSOX2 were identified in 4 of 35 individuals with anophilethalmia.
Journal ArticleDOI
Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data.
Diane J. Allingham-Hawkins,Riyana Babul-Hirji,David Chitayat,Jeanette J. A. Holden,Kathy T Yang,Chingmuh Lee,R Hudson,H Gorwill,Sarah L. Nolin,Anne Glicksman,Edmund C. Jenkins,W. Ted Brown,Patricia N. Howard-Peebles,Cindy Becchi,Emilie Cummings,Lee Fallon,Suzanne Seitz,Susan H. Black,Angela Maria Vianna-Morgante,Silvia S. Costa,Paulo Alberto Otto,Regina Célia Mingroni-Netto,Anna Murray,J Webb,F MacSwinney,N Dennis,Patricia A. Jacobs,Maria Syrrou,Ioannis Georgiou,Phillipos C Patsalis,Maria L Giovannucci Uzielli,Silvia Guarducci,Elisabetta Lapi,A. Cecconi,Ugo Ricci,G. Ricotti,C. Biondi,B. Scarselli,F. Vieri +38 more
TL;DR: There is a significant association between fragile X premutation carrier status and premature menopause in fragile X carriers, according to preliminary data.
Journal Article
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
Wendy P. Robinson,I. J. Barrett,Lynn E. Bernard,A. Telenius,F. Bernasconi,R. D. Wilson,Robert G. Best,Patricia N. Howard-Peebles,Sylvie Langlois,Dagmar K. Kalousek +9 more
TL;DR: Molecular determination of origin is a useful predictor of pregnancy outcome, whereas the level of trisomy observed in cultured CVS is not, possibly indicating that imprinting effects for these chromosomes are confined to placental tissues.
Journal ArticleDOI
Obstetrical and gynecological complications in fragile X carriers: a multicenter study.
C. E. Schwartz,J. H. Dean,Patricia N. Howard-Peebles,Merete Bugge,Margareta Mikkelsen,Niels Tommerup,Claire E. Hull,Randi J Hagerman,Jeanette J. A. Holden,Roger E. Stevenson +9 more
TL;DR: Analysis indicated that higher numbers of fragile X gene carriers reported having irregular menses and other gynecological complications, and experienced cessation of menses prior to age 40 years at a significantly higher rate.
Journal ArticleDOI
Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism
Dagmar K. Kalousek,Patricia N. Howard-Peebles,Susan B. Olson,I. J. Barrett,Andrew D. Dorfmann,Susan H. Black,Joseph D. Schulman,R. D. Wilson +7 more
TL;DR: There was a direct correlation between a high number of aneuploid cells present at CVS and a high likelihood of their detection in term placenta and the proportion ofAneuploids in the mosaicterm placentae correlated with that observed in CVS specimens.