Concepedia

Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical Features

Kenichiro Yamada, Yasukazu Yamada, Noriko Nomura, Kiyokuni Miura, Rie Wakako, Chiemi Hayakawa, Akiko Matsumoto, Toshiyuki Kumagai, Ikuko Yoshimura, Shuji Miyazaki,

The American Journal of Human Genetics · 2001 · 100 citations · 19 references

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19

The Two-Handed E Box Binding Zinc Finger Protein SIP1 Downregulates E-Cadherin and Induces Invasion

Joke Comijn, Geert Berx, Petra Vermassen et al. · Molecular Cell · 2001 · 1.4K citations · Full text

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The CpG dinucleotide and human genetic disease

D.N. Cooper, Hagop Youssoufian · Human Genetics · 1988 · 941 citations

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A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease

Erik G. Puffenberger, Kiminori Hosoda, Sarah S. Washington et al. · Cell · 1994 · 895 citations

, , +11

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

Véronique Pingault, Nadège Bondurand, Kirsten Kuhlbrodt et al. · Nature Genetics · 1998 · 818 citations

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Mutations of the RET proto-oncogene in Hirschsprung's disease

Patrick Edery, Stanislas Lyonnet, Lois M. Mulligan et al. · Nature · 1994 · 755 citations

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