نتایج جستجو برای: uniparental disomy

تعداد نتایج: 1450  

Journal: :Clinical genetics 2016
K Matsubara N Murakami M Fukami M Kagami T Nagai T Ogata

Recent studies have suggested that disomic oocyte-mediated uniparental disomy 15 (UPD(15)mat) is increased in patients with Prader-Willi syndrome (PWS) born after medically assisted reproduction (MAR). However, it remains unknown whether the increase is primarily due to MAR procedure itself or advanced maternal childbearing ages as a predisposing factor for the disomic oocyte production. To exa...

2017
Alexandra P. Key Elisabeth M. Dykens

The present study examined the effects of genetic subtype on social memory in children (7-16 years) with Prader-Willi syndrome (PWS). Visual event-related potentials (ERPs) during a passive viewing task were used to compare incidental memory traces for repeated vs single presentations of previously unfamiliar social (faces) and nonsocial (houses) images in 15 children with the deletion subtype ...

2015
Jiawei Xu Meixiang Zhang Wenbin Niu Guidong Yao Bo Sun Xiao Bao Linlin Wang Linqing Du Yingpu Sun

Uniparental disomy (UPD) has been shown to be rare in human normal blastocysts, but its frequency in discarded morphologically abnormal embryos and its relevance to embryonic self-correction of aneuploid remains unknown. The aim of this study was to detect UPD in discarded morphologically abnormal embryos. Both discarded morphologically abnormal embryos, including zero-pronuclear zygotes (0PN),...

Journal: :The Journal of clinical endocrinology and metabolism 2012
Elbrich P C Siemensma Roderick F A Tummers-de Lind van Wijngaarden Dederieke A M Festen Zyrhea C E Troeman A A E M Janielle van Alfen-van der Velden Barto J Otten Joost Rotteveel Roelof J H Odink G C B Karen Bindels-de Heus Mariette van Leeuwen Danny A J P Haring Wilma Oostdijk Gianni Bocca E C A Mieke Houdijk A S Paul van Trotsenburg J J Gera Hoorweg-Nijman Hester van Wieringen René C F M Vreuls Petr E Jira Eelco J Schroor Evelyn van Pinxteren-Nagler Jan Willem Pilon L Bert Lunshof Anita C S Hokken-Koelega

BACKGROUND Knowledge about the effects of GH treatment on cognitive functioning in children with Prader-Willi syndrome (PWS) is limited. METHODS Fifty prepubertal children aged 3.5 to 14 yr were studied in a randomized controlled GH trial during 2 yr, followed by a longitudinal study during 4 yr of GH treatment. Cognitive functioning was measured biennially by short forms of the WPPSI-R or WI...

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