Literature DB >> 21858587

Cognitive impairment and abnormal behaviour related to ring chromosome 20 aberration.

Maximilian Gahr, Frank Kerling, Andrea Ludolph, Paul Plener.   

Abstract

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Year:  2012        PMID： 21858587     DOI： 10.1007/s10803-011-1346-2

Source DB:  PubMed          Journal:  J Autism Dev Disord        ISSN： 0162-3257


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  18 in total

1.  Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients.

Authors:  Laura K Conlin; Whitney Kramer; Anne L Hutchinson; Xia Li; Harold Riethman; Hakon Hakonarson; John C Mulley; Ingrid E Scheffer; Samuel F Berkovic; Syed A Hosain; Nancy B Spinner
Journal:  J Med Genet       Date:  2010-10-23       Impact factor: 6.318

2.  Ring F chromosome mosaicism (46,XY,20r-46,XY) in an epileptic child without apparent haematological disease.

Authors:  M Faed; H G Morton; J Robertson
Journal:  J Med Genet       Date:  1972-12       Impact factor: 6.318

3.  Ring formation of chromosomes nos. 19 and 20.

Authors:  I A Uchida; C C Lin
Journal:  Cytogenetics       Date:  1972

4.  Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern.

Authors:  M P Canevini; V Sgro; O Zuffardi; R Canger; R Carrozzo; E Rossi; D Ledbetter; F Minicucci; A Vignoli; A Piazzini; L Guidolin; A Saltarelli; B dalla Bernardina
Journal:  Epilepsia       Date:  1998-09       Impact factor: 5.864

5.  More severe epilepsy and cognitive impairment in the offspring of a mother with mosaicism for the ring 20 chromosome.

Authors:  Eila Herrgård; Tarja Mononen; Esa Mervaala; Liisa Kuusela; Marja Aikiä; Ulla Stenbäck; Leena Pääkkönen; Raija-Liisa Airaksinen; Reetta Kälviäinen
Journal:  Epilepsy Res       Date:  2006-10-31       Impact factor: 3.045

6.  Characteristic EEG findings in ring 20 syndrome as a diagnostic clue.

Authors:  K Kobayashi; M Inagaki; M Sasaki; K Sugai; S Ohta; T Hashimoto
Journal:  Electroencephalogr Clin Neurophysiol       Date:  1998-10

7.  Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4--KCNQ2 genes loci.

Authors:  Hatem Elghezal; Hanene Hannachi; Soumaya Mougou; Hassene Kammoun; Chahnez Triki; Ali Saad
Journal:  Eur J Med Genet       Date:  2007-08-06       Impact factor: 2.708

8.  Ring 20 chromosome in a child with seizures, minor anomalies, and retardation.

Authors:  J M Stewart; N Cavanagh; D T Hughes
Journal:  Arch Dis Child       Date:  1979-06       Impact factor: 3.791

9.  Early pattern of epilepsy in the ring chromosome 20 syndrome.

Authors:  Dorothée Ville; Anna Kaminska; Nadia Bahi-Buisson; Arnaud Biraben; Perrine Plouin; Louise Telvi; Olivier Dulac; Catherine Chiron
Journal:  Epilepsia       Date:  2006-03       Impact factor: 5.864

10.  Genetic investigations on 8 patients affected by ring 20 chromosome syndrome.

Authors:  Daniela Giardino; Aglaia Vignoli; Lucia Ballarati; Maria Paola Recalcati; Silvia Russo; Nicole Camporeale; Margherita Marchi; Palma Finelli; Patrizia Accorsi; Lucio Giordano; Francesca La Briola; Valentina Chiesa; Maria Paola Canevini; Lidia Larizza
Journal:  BMC Med Genet       Date:  2010-10-12       Impact factor: 2.103
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