Concepedia

Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency

Leonardo Pires Capelli, Ana Cristina Victorino Krepischi, Juliana Gurgel‐Giannetti, Mirian Fabíola Studart Gurgel Mendes, Tatiane Cristina Rodrigues, Monica Castro Varela, Célia Priszkulnik Koiffmann, Carla Rosenberg

European Journal of Medical Genetics · 2011 · 48 citations · 9 references

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Concepts

References

9

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Helen V. Firth, Shola M. Richards, A. Paul Bevan et al. · The American Journal of Human Genetics · 2009 · 2.1K citations · Full text

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Angelman syndrome 2005: Updated consensus for diagnostic criteria

Charles A. Williams, Arthur L. Beaudet, Jill Clayton‐Smith et al. · American Journal of Medical Genetics Part A · 2006 · 646 citations

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Deletion 22q13.3 syndrome

Mary C. Phelan · Orphanet Journal of Rare Diseases · 2008 · 223 citations · Full text

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Congenital Diaphragmatic Hernia and Chromosome 15q26: Determination of a Candidate Region by Use of Fluorescent In Situ Hybridization and Array-Based Comparative Genomic Hybridization

Merel Klaassens, Marieke van Dooren, H. J. Eussen et al. · The American Journal of Human Genetics · 2005 · 144 citations · Full text

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Imprinted Segments in the Human Genome: Different Dna Methylation Patterns in the Prader-Willi/Angelman Syndrome Region As Determined by the Genomic Sequencing Method

Michael Zeschnigk, Birgit Schmitz, Bärbel Dittrich et al. · Human Molecular Genetics · 1997 · 140 citations

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