- Publications of van Haelst and Kleinendorst
- Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
- Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.
- Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism.
- Ciliary disturbances in syndromal and non-syndromal obesity.
- Effect of vertical sleeve gastrectomy in melanocortin receptor 4-deficient rats.
- Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
- Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems.
- A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
- A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism.
- Obesity syndrome, MOMES caused by deletion-duplication (4q35.1 del and 5p14.3 dup).
- Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
Publications
Corona-maatregelen
We zetten ons in om ons ziekenhuis veilig te houden tijdens de coronacrisis.
Lees deze extra maatregelen goed door voordat u een van onze locaties bezoekt:
Amsterdam UMC
Meibergdreef 9 (M1-108)
1105 AZ Amsterdam
The Netherlands
Founder: dr. M.M. van Haelst
Tel: +31 20 56 66223