Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1.

Literature DB >> 17101000

A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1.

Y Chunshu, K Endoh, M Soutome, R Kawamura, T Kubota.

Abstract

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 2006 PMID： 17101000 DOI： 10.1111/j.1399-0004.2006.00712.x

Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438

Keyword Cloud
Cited

× No keyword cloud information.

10 in total

1. 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

2. Epigenetics in congenital diseases and pervasive developmental disorders.

Authors: Takeo Kubota
Journal: Environ Health Prev Med Date: 2007-12-11 Impact factor: 3.674

Review 3. Rett syndrome and MeCP2.

Authors: Vichithra R B Liyanage; Mojgan Rastegar
Journal: Neuromolecular Med Date: 2014-03-11 Impact factor: 3.843

4. Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes.

Authors: Bredford Kerr; Jessica Soto C; Mauricio Saez; Alexander Abrams; Katherina Walz; Juan I Young
Journal: Eur J Hum Genet Date: 2011-08-10 Impact factor: 4.246

5. The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform.

Authors: Yann Fichou; Juliette Nectoux; Nadia Bahi-Buisson; Haydeé Rosas-Vargas; Benoit Girard; Jamel Chelly; Thierry Bienvenu
Journal: Neurogenetics Date: 2008-11-26 Impact factor: 2.660

6. Epigenetic understanding of gene-environment interactions in psychiatric disorders: a new concept of clinical genetics.

Authors: Takeo Kubota; Kunio Miyake; Takae Hirasawa
Journal: Clin Epigenetics Date: 2012-01-20 Impact factor: 6.551

A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1.

1. The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.

2. Epigenetics in congenital diseases and pervasive developmental disorders.

Review 3. Rett syndrome and MeCP2.

4. Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes.

5. The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform.

6. Epigenetic understanding of gene-environment interactions in psychiatric disorders: a new concept of clinical genetics.

7. Epigenomic-basis of Preemptive Medicine for Neurodevelopmental Disorders.

8. Beyond Pathway Analysis: Identification of Active Subnetworks in Rett Syndrome.

Review 9. The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett Syndrome.

10. Epigenetic mechanisms and therapeutic perspectives for neurodevelopmental disorders.