Rett syndrome.

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作者信息

Clarke A

机构信息

Department of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK.

出版信息

J Med Genet. 1996 Aug;33(8):693-9. doi: 10.1136/jmg.33.8.693.

DOI:10.1136/jmg.33.8.693

PMID:8863164

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050706/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2d5e/1050706/951384e385db/jmedgene00262-0061-a.jpg

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本文引用的文献

Rett syndrome: potential gene sources--phenotypical variability.

Clin Genet. 1995 Oct;48(4):169-72. doi: 10.1111/j.1399-0004.1995.tb04082.x.

The pattern of growth failure in Rett syndrome.

Am J Dis Child. 1993 Jun;147(6):633-7. doi: 10.1001/archpedi.1993.02160300039018.

18q-mosaicism associated with Rett syndrome phenotype.

Am J Med Genet. 1993 Apr 15;46(2):142-4. doi: 10.1002/ajmg.1320460208.

Epidemiology of Rett syndrome: a population-based registry.

Pediatrics. 1993 Feb;91(2):445-50.

Neurochemical alterations in Rett syndrome.

Brain Res Dev Brain Res. 1993 Jul 16;74(1):67-72. doi: 10.1016/0165-3806(93)90084-n.

Emotional and behavioural aspects of Rett syndrome.

Dev Med Child Neurol. 1993 Apr;35(4):340-5. doi: 10.1111/j.1469-8749.1993.tb11646.x.

Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation breakpoint in a patient with Rett syndrome.

Am J Med Genet. 1993 Nov 15;47(7):1124-34. doi: 10.1002/ajmg.1320470736.

Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study.

Brain Dev. 1993 Mar-Apr;15(2):103-6. doi: 10.1016/0387-7604(93)90045-a.

Rett syndrome: controlled study of an oral opiate antagonist, naltrexone.

Ann Neurol. 1994 Apr;35(4):464-70. doi: 10.1002/ana.410350415.

Abnormal carbohydrate metabolism in cerebrospinal fluid in Rett syndrome.

J Child Neurol. 1994 Jan;9(1):26-30. doi: 10.1177/088307389400900105.

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相似文献

Rett syndrome.

J Med Genet. 1996 Aug;33(8):693-9. doi: 10.1136/jmg.33.8.693.

Towards a behavioral phenotype for Rett syndrome.

Am J Ment Retard. 2003 Jan;108(1):1-12. doi: 10.1352/0895-8017(2003)108<0001:TABPFR>2.0.CO;2.

Prolonged QT interval in Rett syndrome.

Arch Dis Child. 1999 May;80(5):470-2. doi: 10.1136/adc.80.5.470.

Molecular diagnosis of Rett syndrome.

J Child Neurol. 2005 Sep;20(9):732-6. doi: 10.1177/08830738050200090601.

[Movement disorders in Rett syndrome].

Rev Neurol. 2005 Jan 15;40 Suppl 1:S167-71.

Neonatal encephalopathy in two boys in families with recurrent Rett syndrome.

J Child Neurol. 1998 May;13(5):229-31. doi: 10.1177/088307389801300507.

Rett syndrome: a comprehensive review of the literature.

Am J Ment Retard. 1991 Nov;96(3):275-90.

Homozygous c.1160C>T (P38L) in the MECP2 gene in a female Rett syndrome patient.

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Urinary peptides in Rett syndrome.

Autism. 2002 Sep;6(3):315-28. doi: 10.1177/1362361302006003008.

Rett syndrome phenotype following infantile acute encephalopathy.

J Child Neurol. 2002 Sep;17(9):700-2. doi: 10.1177/088307380201700910.

引用本文的文献

Review of a specialist Rett syndrome clinic from 2003 to the COVID pandemic: clinic experience and carer perspectives.

Orphanet J Rare Dis. 2024 Dec 20;19(1):477. doi: 10.1186/s13023-024-03483-5.

Rett Syndrome: Reaching for Clinical Trials.

Neurotherapeutics. 2015 Jul;12(3):631-40. doi: 10.1007/s13311-015-0353-y.

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

J Neurosci. 2013 Nov 20;33(47):18448-68. doi: 10.1523/JNEUROSCI.3017-13.2013.

Rett syndrome and the MECP2 gene.

J Med Genet. 2001 Apr;38(4):217-23. doi: 10.1136/jmg.38.4.217.

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

J Inherit Metab Dis. 1999 Dec;22(8):946-7. doi: 10.1023/a:1005616229456.

Prolonged QT interval in Rett syndrome.

Arch Dis Child. 1999 May;80(5):470-2. doi: 10.1136/adc.80.5.470.

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

J Med Genet. 1998 Dec;35(12):997-1003. doi: 10.1136/jmg.35.12.997.

本文引用的文献

Rett syndrome: potential gene sources--phenotypical variability.

Clin Genet. 1995 Oct;48(4):169-72. doi: 10.1111/j.1399-0004.1995.tb04082.x.

The pattern of growth failure in Rett syndrome.

Am J Dis Child. 1993 Jun;147(6):633-7. doi: 10.1001/archpedi.1993.02160300039018.

18q-mosaicism associated with Rett syndrome phenotype.

Am J Med Genet. 1993 Apr 15;46(2):142-4. doi: 10.1002/ajmg.1320460208.

Epidemiology of Rett syndrome: a population-based registry.

Pediatrics. 1993 Feb;91(2):445-50.

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Brain Res Dev Brain Res. 1993 Jul 16;74(1):67-72. doi: 10.1016/0165-3806(93)90084-n.

Emotional and behavioural aspects of Rett syndrome.

Dev Med Child Neurol. 1993 Apr;35(4):340-5. doi: 10.1111/j.1469-8749.1993.tb11646.x.

Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation breakpoint in a patient with Rett syndrome.

Am J Med Genet. 1993 Nov 15;47(7):1124-34. doi: 10.1002/ajmg.1320470736.

Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study.

Brain Dev. 1993 Mar-Apr;15(2):103-6. doi: 10.1016/0387-7604(93)90045-a.

Rett syndrome: controlled study of an oral opiate antagonist, naltrexone.

Ann Neurol. 1994 Apr;35(4):464-70. doi: 10.1002/ana.410350415.

Abnormal carbohydrate metabolism in cerebrospinal fluid in Rett syndrome.

J Child Neurol. 1994 Jan;9(1):26-30. doi: 10.1177/088307389400900105.