Literature DB >> 3377648

Association of autism, retinoblastoma, and reduced esterase D activity.

E R Ritvo, A Mason-Brothers, J H Menkes, R S Sparkes.   

Abstract

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Year:  1988        PMID： 3377648     DOI： 10.1001/archpsyc.1988.01800300098019

Source DB:  PubMed          Journal:  Arch Gen Psychiatry        ISSN： 0003-990X


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  7 in total

1.  NBEA: Developmental disease gene with early generalized epilepsy phenotypes.

Authors:  Maureen S Mulhern; Constance Stumpel; Nicholas Stong; Han G Brunner; Louise Bier; Natalie Lippa; James Riviello; Rob P W Rouhl; Marlies Kempers; Rolph Pfundt; Alexander P A Stegmann; Mary K Kukolich; Aida Telegrafi; Anna Lehman; Elena Lopez-Rangel; Nada Houcinat; Magalie Barth; Nicolette den Hollander; Mariette J V Hoffer; Sarah Weckhuysen; Jolien Roovers; Tania Djemie; Diana Barca; Berten Ceulemans; Dana Craiu; Johannes R Lemke; Christian Korff; Heather C Mefford; Candace T Meyers; Zsuzsanna Siegler; Susan M Hiatt; Gregory M Cooper; E Martina Bebin; Lot Snijders Blok; Hermine E Veenstra-Knol; Evan H Baugh; Eva H Brilstra; Catharina M L Volker-Touw; Ellen van Binsbergen; Anya Revah-Politi; Elaine Pereira; Danielle McBrian; Mathilde Pacault; Bertrand Isidor; Cedric Le Caignec; Brigitte Gilbert-Dussardier; Frederic Bilan; Erin L Heinzen; David B Goldstein; Servi J C Stevens; Tristan T Sands
Journal:  Ann Neurol       Date:  2018-10-25       Impact factor: 10.422

2.  Neurobeachin, a protein implicated in membrane protein traffic and autism, is required for the formation and functioning of central synapses.

Authors:  Lucian Medrihan; Astrid Rohlmann; Richard Fairless; Johanna Andrae; Markus Döring; Markus Missler; Weiqi Zhang; Manfred W Kilimann
Journal:  J Physiol       Date:  2009-09-01       Impact factor: 5.182

3.  Genome-wide association analysis of oxidative stress resistance in Drosophila melanogaster.

Authors:  Allison L Weber; George F Khan; Michael M Magwire; Crystal L Tabor; Trudy F C Mackay; Robert R H Anholt
Journal:  PLoS One       Date:  2012-04-04       Impact factor: 3.240

4.  The dwarf phenotype in GH240B mice, haploinsufficient for the autism candidate gene Neurobeachin, is caused by ectopic expression of recombinant human growth hormone.

Authors:  Kim Nuytens; Krizia Tuand; Quili Fu; Pieter Stijnen; Vincent Pruniau; Sandra Meulemans; Hugo Vankelecom; John W M Creemers
Journal:  PLoS One       Date:  2014-10-15       Impact factor: 3.240

5.  Platelets of mice heterozygous for neurobeachin, a candidate gene for autism spectrum disorder, display protein changes related to aberrant protein kinase A activity.

Authors:  Kim Nuytens; Krizia Tuand; Michela Di Michele; Kurt Boonen; Etienne Waelkens; Kathleen Freson; John Wm Creemers
Journal:  Mol Autism       Date:  2013-11-04       Impact factor: 7.509

6.  Enhanced LTP of population spikes in the dentate gyrus of mice haploinsufficient for neurobeachin.

Authors:  Julia Muellerleile; Aline Blistein; Astrid Rohlmann; Frederieke Scheiwe; Markus Missler; Stephan W Schwarzacher; Peter Jedlicka
Journal:  Sci Rep       Date:  2020-09-29       Impact factor: 4.379

7.  13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay.

Authors:  Flavia Privitera; Arianna Calonaci; Gabriella Doddato; Filomena Tiziana Papa; Margherita Baldassarri; Anna Maria Pinto; Francesca Mari; Ilaria Longo; Mauro Caini; Daniela Galimberti; Theodora Hadjistilianou; Sonia De Francesco; Alessandra Renieri; Francesca Ariani
Journal:  Genes (Basel)       Date:  2021-08-26       Impact factor: 4.096
  7 in total

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