Literature DB >> 8863164

Rett syndrome.

A Clarke1.   

Abstract

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Year:  1996        PMID： 8863164      PMCID： PMC1050706          DOI： 10.1136/jmg.33.8.693

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


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  85 in total

1.  Segregation analysis of the X-chromosome in a family with Rett syndrome in two generations.

Authors:  M Anvret; J Wahlström; P Skogsberg; B Hagberg
Journal:  Am J Med Genet       Date:  1990-09

2.  Two sisters with Rett syndrome.

Authors:  C A Haenggeli; J Moura-Serra; C D DeLozier-Blanchet
Journal:  J Autism Dev Disord       Date:  1990-03

3.  Rett's syndrome and ornithine carbamoyltransferase deficiency.

Authors:  K H Carpenter; J R Bonham; A Clarke
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

4.  Patterns of X chromosome inactivation in the Rett syndrome.

Authors:  H Y Zoghbi; A K Percy; R J Schultz; C Fill
Journal:  Brain Dev       Date:  1990       Impact factor: 1.961

5.  Abnormalities of carbohydrate metabolism and of OCT gene function in the Rett syndrome.

Authors:  A Clarke; D Gardner-Medwin; J Richardson; A McGann; J R Bonham; K H Carpenter; S Bhattacharya; D Haggerty; J A Fleetwood; A Aynsley-Green
Journal:  Brain Dev       Date:  1990       Impact factor: 1.961

6.  Follow-up of monozygotic twins concordant for the Rett syndrome.

Authors:  G Tariverdian
Journal:  Brain Dev       Date:  1990       Impact factor: 1.961

7.  The urea cycle in the Rett syndrome.

Authors:  S Thomas; V Oberholzer; J Wilson; M Hjelm
Journal:  Brain Dev       Date:  1990       Impact factor: 1.961

8.  Rett syndrome: cerebellar pathology.

Authors:  A Oldfors; P Sourander; D L Armstrong; A K Percy; I Witt-Engerström; B A Hagberg
Journal:  Pediatr Neurol       Date:  1990 Sep-Oct       Impact factor: 3.372

9.  Another model for the inheritance of Rett syndrome.

Authors:  E M Bühler; N J Malik; M Alkan
Journal:  Am J Med Genet       Date:  1990-05

10.  A prevalence study of Rett syndrome in an institutionalized population.

Authors:  L Burd; J T Martsolf; T Randall
Journal:  Am J Med Genet       Date:  1990-05
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  6 in total

Review 1.  Rett syndrome and the MECP2 gene.

Authors:  T Webb; F Latif
Journal:  J Med Genet       Date:  2001-04       Impact factor: 6.318

2.  Novel mitochondrial 16S rRNA polymorphism in a girl with Rett syndrome.

Authors:  C J Ellaway; L R McQuade; J Christodoulou
Journal:  J Inherit Metab Dis       Date:  1999-12       Impact factor: 4.982

3.  Loss of predominant Shank3 isoforms results in hippocampus-dependent impairments in behavior and synaptic transmission.

Authors:  Mehreen Kouser; Haley E Speed; Colleen M Dewey; Jeremy M Reimers; Allie J Widman; Natasha Gupta; Shunan Liu; Thomas C Jaramillo; Muhammad Bangash; Bo Xiao; Paul F Worley; Craig M Powell
Journal:  J Neurosci       Date:  2013-11-20       Impact factor: 6.167

4.  Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28.

Authors:  T Webb; A Clarke; F Hanefeld; J L Pereira; L Rosenbloom; C G Woods
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

5.  Prolonged QT interval in Rett syndrome.

Authors:  C J Ellaway; G Sholler; H Leonard; J Christodoulou
Journal:  Arch Dis Child       Date:  1999-05       Impact factor: 3.791

Review 6.  Rett Syndrome: Reaching for Clinical Trials.

Authors:  Lucas Pozzo-Miller; Sandipan Pati; Alan K Percy
Journal:  Neurotherapeutics       Date:  2015-07       Impact factor: 7.620
  6 in total

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