# Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

**Type:** Papers  
**Canonical URL:** https://picoportal.org/library/papers/increased-mecp2-gene-copy-number-as-the-result-of-genomic-duplication-in/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Daniela del Gaudio,Ping Fang,Fernando Scaglia,Patricia A. Ward,William J. Craigen,Daniel G. Glaze,Jeffrey L. Neul,Ankita Patel,Jennifer A. Lee,Mira Irons,Susan A. Berry,Amber A. Pursley,Theresa A. Grebe,Debra Freedenberg,Rick A. Martin,Gary Hsich,Jena R Khera,Neil Friedman,Huda Y. Zoghbi,Christine M. Eng,James R. Lupski,Arthur L. Beaudet,Sau Wai Cheung,Benjamin B. Roa |
| Citations | 271 |
| DOI | 10.1097/01.gim.0000250502.28516.3c |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.gimjournal.org/article/S1098360021034894/pdf |
| OpenAlex ID | https://openalex.org/W2065410176 |
| PMID | 17172942 |
| Type | article |
| Year | 2006 |

## Paper authors

- [Christine M. Eng](https://picoportal.org/library/researchers/christine-m-eng/)
- [Huda Y. Zoghbi](https://picoportal.org/library/researchers/huda-y-zoghbi/)
- [James R. Lupski](https://picoportal.org/library/researchers/james-r-lupski/)
- [Daniel G. Glaze](https://picoportal.org/library/researchers/daniel-g-glaze/)
- [Sau Wai Cheung](https://picoportal.org/library/researchers/sau-wai-cheung/)
- [Arthur L. Beaudet](https://picoportal.org/library/researchers/arthur-l-beaudet/)
- [Ankita Patel](https://picoportal.org/library/researchers/ankita-patel/)

## Paper journal

- [Genetics in Medicine](https://picoportal.org/library/journals/genetics-in-medicine/)

## Paper primary topic

- [Genetics and Neurodevelopmental Disorders](https://picoportal.org/library/topics/genetics-and-neurodevelopmental-disorders/)

## Paper topics

- [Genetics and Neurodevelopmental Disorders](https://picoportal.org/library/topics/genetics-and-neurodevelopmental-disorders/)
- [Ubiquitin and proteasome pathways](https://picoportal.org/library/topics/ubiquitin-and-proteasome-pathways-2/)
- [Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities](https://picoportal.org/library/topics/genetic-and-clinical-aspects-of-sex-determination-and-chromosomal-abnormalities/)

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Source: PICO Portal — public research metadata, principally OpenAlex. See https://picoportal.org/library/sources/ for provenance and https://picoportal.org/library/methodology/ for what these figures mean.
