Concepedia

Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: Prenatal diagnosis and aCGH characterization using uncultured amniocytes

Chih‐Ping Chen, Ming‐Chao Huang, Yi‐Yung Chen, Schu‐Rern Chern, Peih-Shan Wu, Jun-Wei Su, Dai‐Dyi Town, Wayseen Wang

Gene · 2013 · 21 citations · 32 references

DOI

Concepts

References

32

Birth Defects Encyclopedia

Susan Holder · Archives of Disease in Childhood · 1991 · 429 citations · Full text

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Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation

Mainardi Pc, Chiara Perfumo, Gabriella Coucourde et al. · Journal of Medical Genetics · 2001 · 205 citations · Full text

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A novel class of murine semaphorins with homology to thrombospondin is differentially expressed during early embryogenesis

Ralf H. Adams, Heinrich Betz, Andreas W. Püschel · Mechanisms of Development · 1996 · 192 citations

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Hemizygosity of δ-Catenin (CTNND2) Is Associated with Severe Mental Retardation in Cri-du-Chat Syndrome

Miguel Medina, R. Catrinel Marinescu, Joan Overhauser et al. · Genomics · 2000 · 171 citations

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Deletion of the Neuron-Specific Protein Delta-Catenin Leads to Severe Cognitive and Synaptic Dysfunction

Inbal Israely, Rui M. Costa, Cui Xie et al. · Current Biology · 2004 · 155 citations · Full text

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