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Shelley Smith

Research Profile

Chemicals & Drugs

Anatomy

Chromosomes, Human, Pair 1

Disorders

Genes & Molecular Sequences

Dominant Genes

Geographic Areas

Concepts & Ideas

Procedures

Physiology

Mutation

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Publications

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Els M R De Leenheer; Robbert J H Ensink; Henricus P M Kunst; Henri Marres; Zohreh Talebizadeh; Frank Declau; Shelley D Smith; Shin-ichi Usami; Paul H Van De Heyning; Guy Van Camp; Patrick Huygen; Cor W R J Cremers
DFNA2/KCNQ4 and its manifestations.
Paul J Coucke; Peter Van Hauwe; P M Kelley; Henricus P M Kunst; Isabelle Schatteman; D Van Velzen; J Meyers; Robbert J H Ensink; Margriet Verstreken; Frank Declau; Henri Marres; K Kastury; S Bhasin; Wyman T McGuirt; Richard J H Smith; Cor W R J Cremers; Paul Van de Heyning; Patrick J Willems; Shelley D Smith; Guy Van Camp
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
Peter Van Hauwe; Paul J Coucke; Frank Declau; Henricus P M Kunst; Robbert J H Ensink; Henri Marres; Cor W R J Cremers; Bulantrisna Djelantik; Shelley D Smith; P Kelley; Paul H Van De Heyning; Guy Van Camp
Deafness linked to DFNA2: one locus but how many genes?

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All Publications

2002: Els M R De Leenheer; Robbert J H Ensink; Henricus P M Kunst; Henri Marres; Zohreh Talebizadeh; Frank Declau; Shelley D Smith; Shin-ichi Usami; Paul H Van De Heyning; Guy Van Camp; Patrick Huygen; Cor W R J Cremers
DFNA2/KCNQ4 and its manifestations.
Advances in oto-rhino-laryngology 2002;61():41-6.
1999: Paul J Coucke; Peter Van Hauwe; P M Kelley; Henricus P M Kunst; Isabelle Schatteman; D Van Velzen; J Meyers; Robbert J H Ensink; Margriet Verstreken; Frank Declau; Henri Marres; K Kastury; S Bhasin; Wyman T McGuirt; Richard J H Smith; Cor W R J Cremers; Paul Van de Heyning; Patrick J Willems; Shelley D Smith; Guy Van Camp
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
Human molecular genetics 1999;8(7):1321-8.
1999: Peter Van Hauwe; Paul J Coucke; Frank Declau; Henricus P M Kunst; Robbert J H Ensink; Henri Marres; Cor W R J Cremers; Bulantrisna Djelantik; Shelley D Smith; P Kelley; Paul H Van De Heyning; Guy Van Camp
Deafness linked to DFNA2: one locus but how many genes?
Nature genetics 1999;21(3):263.
1997: Guy Van Camp; Paul J Coucke; Henricus P M Kunst; Isabelle Schatteman; D Van Velzen; Henri Marres; M van Ewijk; Frank Declau; Peter Van Hauwe; J Meyers; J Kenyon; Shelley D Smith; Richard J H Smith; Bulantrisna Djelantik; Cor W R J Cremers; Paul H Van De Heyning; Patrick J Willems
Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p.
Genomics 1997;41(1):70-4.
1994: P Coucke; Guy Van Camp; B Djoyodiharjo; Shelley D Smith; R R Frants; G W Padberg; J K Darby; Egbert H Huizing; Cor W R J Cremers; W J Kimberling
Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families.
The New England journal of medicine 1994;331(7):425-31.