Literature DB >> 20236119

An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient.

B Auber, P Burfeind, C Thiels, E A Alsat, M Shoukier, T Liehr, H Nelle, I Bartels, G Salinas-Riester, F Laccone.   

Abstract

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Year:  2010        PMID： 20236119     DOI： 10.1111/j.1399-0004.2009.01363.x

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


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  9 in total

1.  MECP2 Duplication Syndrome.

Authors:  H Van Esch
Journal:  Mol Syndromol       Date:  2011-07-05

2.  De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.

Authors:  Nathalie Fieremans; Marijke Bauters; Stefanie Belet; Jelle Verbeeck; Anna C Jansen; Sara Seneca; Filip Roelens; Elfride De Baere; Peter Marynen; Guy Froyen
Journal:  Hum Genet       Date:  2014-07-19       Impact factor: 4.132

3.  Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database.

Authors:  Daniel Ta; Jenny Downs; Gareth Baynam; Andrew Wilson; Peter Richmond; Helen Leonard
Journal:  Children (Basel)       Date:  2022-04-28

4.  Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.

Authors:  E K Bijlsma; A Collins; F T Papa; M I Tejada; P Wheeler; E A J Peeters; A C J Gijsbers; J M van de Kamp; M Kriek; M Losekoot; A J Broekma; J A Crolla; M Pollazzon; M Mucciolo; E Katzaki; V Disciglio; M I Ferreri; A Marozza; M A Mencarelli; C Castagnini; L Dosa; F Ariani; F Mari; R Canitano; G Hayek; M P Botella; B Gener; M Mínguez; A Renieri; C A L Ruivenkamp
Journal:  Eur J Med Genet       Date:  2012-03-29       Impact factor: 2.708

5.  MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum.

Authors:  Victoria San Antonio-Arce; María Fenollar-Cortés; Raluca Oancea Ionescu; Teresa DeSantos-Moreno; Jesús Gallego-Merlo; Francisco José Illana Cámara; María Carmen Cotarelo Pérez
Journal:  Child Neurol Open       Date:  2016-04-04

6.  Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.

Authors:  Xiaoyan Li; Hua Xie; Qian Chen; Xiongying Yu; Zhaoshi Yi; Erzhen Li; Ting Zhang; Jian Wang; Jianmin Zhong; Xiaoli Chen
Journal:  BMC Med Genet       Date:  2017-11-15       Impact factor: 2.103

Review 7.  A brief history of MECP2 duplication syndrome: 20-years of clinical understanding.

Authors:  Daniel Ta; Jenny Downs; Gareth Baynam; Andrew Wilson; Peter Richmond; Helen Leonard
Journal:  Orphanet J Rare Dis       Date:  2022-03-21       Impact factor: 4.123

8.  Pain in Rett syndrome: a pilot study and a single case study on the assessment of pain and the construction of a suitable measuring scale.

Authors:  Rosa Angela Fabio; Liliana Chiarini; Virginia Canegallo
Journal:  Orphanet J Rare Dis       Date:  2022-09-14       Impact factor: 4.303

9.  MECP2 duplication phenotype in symptomatic females: report of three further cases.

Authors:  Francesca Novara; Alessandro Simonati; Federico Sicca; Roberta Battini; Simona Fiori; Annarita Contaldo; Lucia Criscuolo; Orsetta Zuffardi; Roberto Ciccone
Journal:  Mol Cytogenet       Date:  2014-01-28       Impact factor: 2.009
  9 in total

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