Literature DB >> 4061766

The clinical pattern of the Rett syndrome.

F Hanefeld.   

Abstract

A case of infantile spasms who developed later on many characteristics of Rett syndrome is described. Rett syndrome was also observed in two sisters. This will probably have great importance for genetic counselling.

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Year:  1985        PMID： 4061766     DOI： 10.1016/s0387-7604(85)80037-1

Source DB:  PubMed          Journal:  Brain Dev        ISSN： 0387-7604            Impact factor:   1.961


  24 in total

Review 1.  Rett syndrome and MeCP2: linking epigenetics and neuronal function.

Authors:  Mona D Shahbazian; Huda Y Zoghbi
Journal:  Am J Hum Genet       Date:  2002-11-19       Impact factor: 11.025

2.  Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations.

Authors:  N Archidiacono; M Lerone; M Rocchi; M Anvret; T Ozcelik; U Francke; G Romeo
Journal:  Hum Genet       Date:  1991-04       Impact factor: 4.132

3.  In search of a genetic basis for the Rett syndrome.

Authors:  P S Martinho; P G Otto; F Kok; A Diament; M J Marques-Dias; C H Gonzalez
Journal:  Hum Genet       Date:  1990-12       Impact factor: 4.132

Review 4.  Autism spectrum disorder and epilepsy: Disorders with a shared biology.

Authors:  Bo Hoon Lee; Tristram Smith; Alex R Paciorkowski
Journal:  Epilepsy Behav       Date:  2015-04-19       Impact factor: 2.937

Review 5.  Rett syndrome: a review of current knowledge.

Authors:  R Van Acker
Journal:  J Autism Dev Disord       Date:  1991-12

6.  The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

Authors:  Stephanie Fehr; Meredith Wilson; Jenny Downs; Simon Williams; Alessandra Murgia; Stefano Sartori; Marilena Vecchi; Gladys Ho; Roberta Polli; Stavroula Psoni; Xinhua Bao; Nick de Klerk; Helen Leonard; John Christodoulou
Journal:  Eur J Hum Genet       Date:  2012-08-08       Impact factor: 4.246

Review 7.  Rett syndrome.

Authors:  A Clarke
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

8.  NTNG1 mutations are a rare cause of Rett syndrome.

Authors:  Hayley L Archer; Julie C Evans; David S Millar; Peter W Thompson; Alison M Kerr; Helen Leonard; John Christodoulou; David Ravine; Lazarus Lazarou; Lucy Grove; Christopher Verity; Sharon D Whatley; Daniela T Pilz; Julian R Sampson; Angus J Clarke
Journal:  Am J Med Genet A       Date:  2006-04-01       Impact factor: 2.802

9.  Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome.

Authors:  Dhanjit Kumar Das; Bhakti Mehta; Shyla R Menon; Sarbani Raha; Vrajesh Udani
Journal:  Neuromolecular Med       Date:  2012-12-15       Impact factor: 3.843

10.  CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail.

Authors:  Laura Rusconi; Lisa Salvatoni; Laura Giudici; Ilaria Bertani; Charlotte Kilstrup-Nielsen; Vania Broccoli; Nicoletta Landsberger
Journal:  J Biol Chem       Date:  2008-08-13       Impact factor: 5.157
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