Literature DB >> 15235033

FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour.

P Finelli, F Natacci, M T Bonati, G Gottardi, J J M Engelen, C E M de Die-Smulders, M Sala, D Giardino, L Larizza.   

Abstract

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Year:  2004        PMID： 15235033      PMCID： PMC1735836          DOI： 10.1136/jmg.2003.016311

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


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  12 in total

1.  Identifying loci for the overlap between attention-deficit/hyperactivity disorder and autism spectrum disorder using a genome-wide QTL linkage approach.

Authors:  Judith S Nijmeijer; Alejandro Arias-Vásquez; Nanda N J Rommelse; Marieke E Altink; Richard J L Anney; Philip Asherson; Tobias Banaschewski; Cathelijne J M Buschgens; Ellen A Fliers; Michael Gill; Ruud B Minderaa; Luise Poustka; Joseph A Sergeant; Jan K Buitelaar; Barbara Franke; Richard P Ebstein; Ana Miranda; Fernando Mulas; Robert D Oades; Herbert Roeyers; Aribert Rothenberger; Edmund J S Sonuga-Barke; Hans-Christoph Steinhausen; Stephen V Faraone; Catharina A Hartman; Pieter J Hoekstra
Journal:  J Am Acad Child Adolesc Psychiatry       Date:  2010-05-20       Impact factor: 8.829

2.  Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region.

Authors:  S Russo; P Finelli; M P Recalcati; S Ferraiuolo; F Cogliati; B Dalla Bernardina; M G Tibiletti; M Agosti; M Sala; M T Bonati; L Larizza
Journal:  J Med Genet       Date:  2006-08       Impact factor: 6.318

3.  16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.

Authors:  John C K Barber; Victoria Hall; Viv K Maloney; Shuwen Huang; Angharad M Roberts; Angela F Brady; Nicki Foulds; Beverley Bewes; Marianne Volleth; Thomas Liehr; Karl Mehnert; Mark Bateman; Helen White
Journal:  Eur J Hum Genet       Date:  2012-07-25       Impact factor: 4.246

4.  Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.

Authors:  Anne-Claude Tabet; Marion Pilorge; Richard Delorme; Frédérique Amsellem; Jean-Marc Pinard; Marion Leboyer; Alain Verloes; Brigitte Benzacken; Catalina Betancur
Journal:  Eur J Hum Genet       Date:  2012-01-11       Impact factor: 4.246

5.  Posterior probability of linkage analysis of autism dataset identifies linkage to chromosome 16.

Authors:  Thomas H Wassink; Veronica J Vieland; Val C Sheffield; Christopher W Bartlett; Rhinda Goedken; Deborah Childress; Joseph Piven
Journal:  Psychiatr Genet       Date:  2008-04       Impact factor: 2.458

Review 6.  Syndromic autism: causes and pathogenetic pathways.

Authors:  Arianna Benvenuto; Romina Moavero; Riccardo Alessandrelli; Barbara Manzi; Paolo Curatolo
Journal:  World J Pediatr       Date:  2009-08-20       Impact factor: 2.764

Review 7.  Glutamatergic candidate genes in autism spectrum disorder: an overview.

Authors:  Andreas G Chiocchetti; Hanna S Bour; Christine M Freitag
Journal:  J Neural Transm (Vienna)       Date:  2014-02-04       Impact factor: 3.575

8.  Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT.

Authors:  Gabrielle Barnby; Aaron Abbott; Nuala Sykes; Andrew Morris; Daniel E Weeks; Richard Mott; Janine Lamb; Anthony J Bailey; Anthony P Monaco
Journal:  Am J Hum Genet       Date:  2005-04-13       Impact factor: 11.025

9.  Recent advances in the pathogenesis of syndromic autisms.

Authors:  A Benvenuto; B Manzi; R Alessandrelli; C Galasso; P Curatolo
Journal:  Int J Pediatr       Date:  2009-06-21

10.  Copy number variations of chromosome 16p13.1 region associated with schizophrenia.

Authors:  A Ingason; D Rujescu; S Cichon; E Sigurdsson; T Sigmundsson; O P H Pietiläinen; J E Buizer-Voskamp; E Strengman; C Francks; P Muglia; A Gylfason; O Gustafsson; P I Olason; S Steinberg; T Hansen; K D Jakobsen; H B Rasmussen; I Giegling; H-J Möller; A Hartmann; C Crombie; G Fraser; N Walker; J Lonnqvist; J Suvisaari; A Tuulio-Henriksson; E Bramon; L A Kiemeney; B Franke; R Murray; E Vassos; T Toulopoulou; T W Mühleisen; S Tosato; M Ruggeri; S Djurovic; O A Andreassen; Z Zhang; T Werge; R A Ophoff; M Rietschel; M M Nöthen; H Petursson; H Stefansson; L Peltonen; D Collier; K Stefansson; D M St Clair
Journal:  Mol Psychiatry       Date:  2009-09-29       Impact factor: 15.992
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