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Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia
TLDR
It is concluded that mutations in RMRP cause CHH by disrupting a function of RNase MRP RNA that affects multiple organ systems.
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland
TLDR
Using classical methods for analysing bacterial cultures, striking linkage disequilibrium for diastrophic dysplasia in Finland is reported, indicating that the DTD gene should lie within 0.06 centimorgans of the CSF1R gene.
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia
TLDR
Using genome-wide linkage mapping and a positional candidate approach, it is determined that mutations in SMARCAL1 (SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a–like 1), are responsible for SIOD.
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
TLDR
The homogeneity of mutations in achondroplasia is unprecedented for an autosomal dominant disorder and may explain the relative lack of heterogeneity in the achonderized phenotype.
The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
TLDR
The positional cloning of the DTD gene by fine-structure linkage disequilibrium mapping is reported, demonstrating the power of linkage diseqilibrium mapping in isolated populations for positional cloning.
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
TLDR
Genotypic-phenotypic comparison revealed an association between the Marshall syndrome phenotype and splicing mutations of 54-bp exons in the C-terminal region of the COL11A1 gene, which led to a typical phenotype of Stickler syndrome.
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia
TLDR
A systematic screening of FGFR3 to detect mutations in patients with hypochondroplasia is reported, with a singleFGFR3 mutation found in 8 out of 14 unrelated patients with HypochondroPLasia.
Identification of a novel common genetic risk factor for lumbar disk disease.
TLDR
This study led to the identification of a novel common genetic risk factor for LDD, confirming that genetic risk factors likely play a significant role in LDD.
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature
TLDR
The high incidence of cerebral ischaemia and ocular abnormalities is emphasized, theHigh incidence of thyroid dysfunction and blood cytopenia is defined, and the absence of effective and durable medical therapies is confirmed.
Quality of life in early adolescence: A sixteendimensional health-related measure (16D)
TLDR
A 16-dimensional, generic self-assessment measure of HRQOL (16D) for early adolescents is introduced and its use with four populations of children aged 12–15 is demonstrated, capable of differentiating theHRQOL of healthy adolescents as well as patients with various diagnoses.
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