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APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
TLDR
It is shown that APCDD1 is a membrane-bound glycoprotein that is abundantly expressed in human hair follicles, and can interact in vitro with WNT3A and LRP5—two essential components of Wnt signalling.
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
TLDR
The detection of three interstitial, overlapping 17q21.31 microdeletions in a cohort of 1,200 mentally retarded individuals associated with a clearly recognizable clinical phenotype of mental retardation, hypotonia and a characteristic face is described.
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver–Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes
TLDR
A simple clinical scoring system emerged as a powerful tool for identifying those patients with both a definite SRS phenotype and carrying an epimutation at 11p15, and identified SRS patients where hypomethylation was restricted to either the H19 or the IGF2 gene.
Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes
TLDR
An examination of subtelomeric segments should be included in the diagnostic work-up of patients with unexplained mental retardation combined with physical abnormalities, when a careful conventional examination of banded chromosomes has yielded a normal result and a thorough clinical examination does not lead to another classification.
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
TLDR
A high diversity of mutations giving rise to AT in a non-isolated population is indicated and a plethora of variations in the ATM gene identified by exon scanning sequencing is characterized.
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation
TLDR
The findings highlight a new mechanism for the formation of some ring chromosomes and show that inv dup del rearrangements may be stabilised not only through telomere healing andtelomere capture but also through circularisation.
Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6).
TLDR
The first pathogenic mutation in the CACNA2D1 gene in humans, which causes a new variant of SQTS is reported, and it suggests that single channel biophysical properties of the L-type channel are altered by this variant.
Clinical and genetic heterogeneity in Meckel syndrome
TLDR
Analysis of MKS families for linkage to the MKS locus suggests locus heterogeneity in Meckel syndrome – a feature previously suspected based on the highly variable clinical phenotype.
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15.
TLDR
A map of parent-of-origin-specific epigenetic modifications on chromosome 15 is provided, identifying DNA elements that may play a functional role in the imprinting process and application of this methodology to other chromosomes for which UPD has been reported will allow the systematic identification of imprinted sites throughout the genome.
Maternal uniparental disomy 7 – review and further delineation of the phenotype
TLDR
Maternal UPD 7 should be investigated in children with pre- and postnatal growth retardation and a facial gestalt characterized by a high and broad forehead and a pointed chin, as well as in confined placental mosaicism for trisomy 7.
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