Literature DB >> 18218042

Three new patients with dup(17)(p11.2p11.2) without autism.

D Greco, C Romano, S Reitano, C Barone, D D Benedetto, L Castiglia, M Fichera, O Galesi, M Zingale, S Buono, V Uliana, R Caselli, R Canitano, G Hayek, A Renieri.   

Abstract

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Year:  2008        PMID： 18218042     DOI： 10.1111/j.1399-0004.2007.00959.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  4 in total

1.  Opposing phenotypes in mice with Smith-Magenis deletion and Potocki-Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior.

Authors:  Detlef H Heck; Wenli Gu; Ying Cao; Shuhua Qi; Melanie Lacaria; James R Lupski
Journal:  Am J Med Genet A       Date:  2012-09-18       Impact factor: 2.802

Review 2.  Phenotypic variability and genetic susceptibility to genomic disorders.

Authors:  Santhosh Girirajan; Evan E Eichler
Journal:  Hum Mol Genet       Date:  2010-08-31       Impact factor: 6.150

3.  Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism.

Authors:  A Gulhan Ercan-Sencicek; Nicole R Davis Wright; Stephen J Frost; Robert K Fulbright; Susan Felsenfeld; Lesley Hart; Nicole Landi; W Einar Mencl; Stephan J Sanders; Kenneth R Pugh; Matthew W State; Elena L Grigorenko
Journal:  Brain Dev       Date:  2011-12-16       Impact factor: 1.961

4.  The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison.

Authors:  Stacey Bissell; Lucy Wilde; Caroline Richards; Jo Moss; Chris Oliver
Journal:  J Neurodev Disord       Date:  2018-01-10       Impact factor: 4.025
  4 in total

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