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A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb

Data up to Jan 2025

Published2008
Citations81
References23

Total Citations Per Year

Abstract

References (23)

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

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A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

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2006 • 181 citations

Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly

2007 • 174 citations

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2004 • 151 citations

Sonic hedgehog function in chondrichthyan fins and the evolution of appendage patterning

2006 • 129 citations

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome

2008 • 120 citations

Two novel point mutations in the long‐range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly

2006 • 113 citations

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1999 • 106 citations

Missense Mutations in the Homeodomain of HOXD13 Are Associated with Brachydactyly Types D and E

2003 • 104 citations

A Physical and Transcriptional Map of the Preaxial Polydactyly Locus on Chromosome 7q36

1999 • 69 citations

A series of ENU-induced single-base substitutions in a long-range cis-element altering Sonic hedgehog expression in the developing mouse limb bud

2007 • 62 citations

How to make a zone of polarizing activity: Insights into limb development via the abnormality preaxial polydactyly

2007 • 62 citations

Characterization of a novel ectodermal signaling center regulating Tbx2 and Shh in the vertebrate limb

2006 • 56 citations

Treatment of the Triphalangeal Thumb

1976 • 54 citations

A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family

2007 • 38 citations

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2007 • 37 citations

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A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with… (2008) – Human Molecular Genetics | Metascience Observatory Explorer