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Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31
The whirler mouse mutant (wi) does not respond to sound stimuli, and detailed ultrastructural analysis of sensory hair cells in the organ of Corti of the inner ear indicates that the whirler geneExpand
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Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
Growth retardation resulting in short stature is a major concern for parents and due to its great variety of causes, a complex diagnostic challenge for clinicians. A major locus involved in linearExpand
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Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I
Tricho-rhino-phalangeal syndrome type I (TRPS I, MIM 190350) is a malformation syndrome characterized by craniofacial and skeletal abnormalities and is inherited in an autosomal dominant manner. TRPSExpand
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  • Open Access
X–linked spastic paraplegia (SPG1), MASA syndrome and X–linked hydrocephalus result from mutations in the L1 gene
X–linked hydrocephalus, spastic paraplegia type I and MASA syndrome are related disorders with loci in subchromosomal region Xq28. We have previously shown that X–linked hydrocephalus is caused byExpand
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Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X–linked hydrocephalus
A locus for X–linked hydrocephalus (HSAS), which is characterized by mental retardation and enlarged brain ventricles, maps to the same subchromosomal region (Xq28) as the gene for neural cellExpand
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N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.
Hereditary motor and sensory neuropathies, to which Charcot-Marie-Tooth (CMT) disease belongs, are a common cause of disability in adulthood. Growing awareness that axonal loss, rather thanExpand
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Insights into the evolution of the nucleolus by an analysis of its protein domain repertoire.
Recently, the first investigation of nucleoli using mass spectrometry led to the identification of 271 proteins. This represents a rich resource for a comprehensive investigation of nucleolusExpand
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  • Open Access
Exhaustive mining of EST libraries for genes differentially expressed in normal and tumour tissues.
A four-step procedure for the efficient and systematic mining of whole EST libraries for differentially expressed genes is presented. After eliminating redundant entries from the EST library underExpand
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  • Open Access
Genomic walking and sequencing by oligo-cassette mediated polymerase chain reaction.
Recently, a method named inverse PCR has been described by which genomic DNA sequences adjacent to a known (sequenced) locus can be amplified in vitro and sequenced (1-2). The method comprises theExpand
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Is there an incremental rise in the risk of obstetric intervention with increasing maternal age?
Objective To determine whether increasing maternal age increases the risk of operative delivery and to investigate whether such a trend is due to fetal or maternal factors.
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