Literature DB >> 12676916

Genetic variation analysis of MLP, TFAP2A, and CSK in patients with neural tube defects.

R Klootwijk, F A Hol, M Wu, J J H T Willemen, P Groenen, B Hamel, H Straatman, R P M Steegers-Theunissen, E C M Mariman, B Franke.   

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Year:  2003        PMID： 12676916      PMCID： PMC1735439          DOI： 10.1136/jmg.40.4.e43

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  2 in total

1.  A functional indel polymorphism rs34396413 in TFAP2A intron-5 significantly increases female encephalocele risk in Han Chinese population.

Authors:  Ke Su; Shuxia Chen; Jianhong Ye; Lele Kuang; Ting Zhang; Hongyan Wang; Xueyan Yang
Journal:  Childs Nerv Syst       Date:  2019-04-24       Impact factor: 1.475

2.  Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.

Authors:  Gaia Gestri; Robert J Osborne; Alexander W Wyatt; Dianne Gerrelli; Susan Gribble; Helen Stewart; Alan Fryer; David J Bunyan; Katrina Prescott; J Richard O Collin; Tomas Fitzgerald; David Robinson; Nigel P Carter; Stephen W Wilson; Nicola K Ragge
Journal:  Hum Genet       Date:  2009-12       Impact factor: 4.132
  2 in total

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