Literature DB >> 1621933

The Rett girls with preserved speech.

M Zappella1.   

Abstract

In addition to a total population of 102 classic Rett syndrome girls who visited our department in the last 8 years, 3 were observed showing some of the features typical of this syndrome, including hand-washing activities, but also some atypical features, the most notable of which was their ability to speak in fully formed phrases. One of these girls has a sister with the typical features of classic Rett syndrome. Atypical variants of the Rett syndrome are discussed and the possibility of a "speaking" variant is considered.

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Year:  1992        PMID: 1621933     DOI: 10.1016/s0387-7604(12)80094-5

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


  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.  The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database.

Authors:  Laila Robertson; Sonĵa E Hall; Peter Jacoby; Carolyn Ellaway; Nick de Klerk; Helen Leonard
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2006-03-05       Impact factor: 3.568

Review 3.  Rett syndrome.

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

4.  The preserved speech variant: a subgroup of the Rett complex: a clinical report of 30 cases.

Authors:  M Zappella; C Gillberg; S Ehlers
Journal:  J Autism Dev Disord       Date:  1998-12

5.  Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome.

Authors:  Stephanie Fehr; Jenny Downs; Ami Bebbington; Helen Leonard
Journal:  Am J Med Genet A       Date:  2010-10       Impact factor: 2.802

6.  Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

Authors:  Vishnu Anand Cuddapah; Rajesh B Pillai; Kiran V Shekar; Jane B Lane; Kathleen J Motil; Steven A Skinner; Daniel Charles Tarquinio; Daniel G Glaze; Gerald McGwin; Walter E Kaufmann; Alan K Percy; Jeffrey L Neul; Michelle L Olsen
Journal:  J Med Genet       Date:  2014-01-07       Impact factor: 6.318

7.  Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice.

Authors:  Elisa Frullanti; Sonia Amabile; Maria Grazia Lolli; Anna Bartolini; Gabriella Livide; Elisa Landucci; Francesca Mari; Flora M Vaccarino; Francesca Ariani; Luca Massimino; Alessandra Renieri; Ilaria Meloni
Journal:  Eur J Hum Genet       Date:  2015-05-13       Impact factor: 4.246

8.  Rett syndrome-like hand-washing, developmental arrest and autistic symptoms in two Italian girls.

Authors:  Michele Zappella
Journal:  Eur Child Adolesc Psychiatry       Date:  1994-01       Impact factor: 4.785

Review 9.  Clinical and biological progress over 50 years in Rett syndrome.

Authors:  Helen Leonard; Stuart Cobb; Jenny Downs
Journal:  Nat Rev Neurol       Date:  2016-12-09       Impact factor: 42.937

10.  The diagnosis of autism in a female: could it be Rett syndrome?

Authors:  Deidra J Young; Ami Bebbington; Alison Anderson; David Ravine; Carolyn Ellaway; Alpana Kulkarni; Nick de Klerk; Walter E Kaufmann; Helen Leonard
Journal:  Eur J Pediatr       Date:  2007-08-08       Impact factor: 3.183

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