Jenneke van den Ende

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Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations in different collagen genes. The aim of our study was to define more precisely the phenotype and genotype of Stickler syndrome type 1 by investigating a large series of patients with a heterozygous mutation in COL2A1. In 188 probands with the clinical diagnosis of(More)
The identification of all people with a diagnosis of Prader–Willi syndrome (PWS) confirmed by DNA methylation analysis living in Flanders was attempted through contact with the four genetic centres and the PWS Association. The birth incidence for the period 1993–2001 was 1:26 676, the minimum prevalence at 31 December 2001 was 1:76 574. A decreasing number(More)
Myhre syndrome is characterized by short stature, brachydactyly, facial features, pseudomuscular hypertrophy, joint limitation and hearing loss. We identified SMAD4 mutations as the cause of Myhre syndrome. SMAD4 mutations have also been identified in laryngotracheal stenosis, arthropathy, prognathism and short stature syndrome (LAPS). This study aimed to(More)
Auditory neuropathy spectrum disorder (ANSD) is a particular kind of hearing disorder characterised by normal outer hair cell function and abnormal or absent auditory brain stem responses. Little data are available regarding the prevalence of this condition in healthy newborns. We performed a retrospective medical records review of 791 referrals from(More)
Gonadal dysgenesis with normal male karyotype (46XY) is a sexual differentiation disorder. So far three patients have been reported presenting the association of 46XY gonadal dysgenesis with peripheral neuropathy. Examination of sural nerves revealed minifascicle formation in two of them. In one patient, a mutation was found in desert hedgehog homolog(More)
A combination of amoxycillin and clavulanic acid 4:1 was administered to 35 children (aged 2 to 10 years) with infections. The combination was administered orally as a suspension, every 8 h for 5 to 7 days. Sixteen children (aged 2 to 5 years), received 125 mg amoxycillin and 31.25 mg clavulanic acid, and 19 (6 to 10 years) received 250 mg amoxycillin and(More)
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the TSC1 gene on chromosome 9q34 or the TSC2 gene on chromosome 16p13.3. The TSC1 and TSC2 gene products, TSC1 and TSC2, interact to form a protein complex that(More)
Sonograms of 48 amoebic liver abscesses (ALA) in 33 patients were retrospectively analysed to determine the frequency of previously described sonographic features. Eighty-five per cent of the ALA were located in the right lobe and 77% of them were contiguous with the liver capsule. ALA were round or oval in 94% of the cases without significant wall echoes(More)
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