Literature DB >> 9637791

A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.

C Schanen, U Francke.   

Abstract

Mesh：

Year:  1998        PMID： 9637791      PMCID： PMC1377262          DOI： 10.1086/301932

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  20 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.  Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome.

Authors:  Paolo Moretti; Jonathan M Levenson; Fortunato Battaglia; Richard Atkinson; Ryan Teague; Barbara Antalffy; Dawna Armstrong; Ottavio Arancio; J David Sweatt; Huda Y Zoghbi
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3.  The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.

Authors:  Jeffrey L Neul; Timothy A Benke; Eric D Marsh; Steven A Skinner; Jonathan Merritt; David N Lieberman; Shannon Standridge; Timothy Feyma; Peter Heydemann; Sarika Peters; Robin Ryther; Mary Jones; Bernhard Suter; Walter E Kaufmann; Daniel G Glaze; Alan K Percy
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2018-12-07       Impact factor: 3.568

4.  2012 William Allan Award: Adventures in cytogenetics.

Authors:  Uta Francke
Journal:  Am J Hum Genet       Date:  2013-03-07       Impact factor: 11.025

5.  A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.

Authors:  Sabine M Klauck; Susan Lindsay; Kim S Beyer; Miranda Splitt; John Burn; Annemarie Poustka
Journal:  Am J Hum Genet       Date:  2002-02-15       Impact factor: 11.025

Review 6.  The Use of Induced Pluripotent Stem Cell Technology to Advance Autism Research and Treatment.

Authors:  Allan Acab; Alysson Renato Muotri
Journal:  Neurotherapeutics       Date:  2015-07       Impact factor: 7.620

7.  Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.

Authors:  M Wan; S S Lee; X Zhang; I Houwink-Manville; H R Song; R E Amir; S Budden; S Naidu; J L Pereira; I F Lo; H Y Zoghbi; N C Schanen; U Francke
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

8.  Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain.

Authors:  Matthew Tudor; Schahram Akbarian; Richard Z Chen; Rudolf Jaenisch
Journal:  Proc Natl Acad Sci U S A       Date:  2002-11-13       Impact factor: 11.205

Review 9.  Stem cells and modeling of autism spectrum disorders.

Authors:  Beatriz C G Freitas; Cleber A Trujillo; Cassiano Carromeu; Marianna Yusupova; Roberto H Herai; Alysson R Muotri
Journal:  Exp Neurol       Date:  2012-10-02       Impact factor: 5.330

10.  Variable phenotypic expression of a MECP2 mutation in a family.

Authors:  Kimberly Augenstein; Jane B Lane; Antony Horton; Carolyn Schanen; Alan K Percy
Journal:  J Neurodev Disord       Date:  2009-12       Impact factor: 4.025
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