Lotte Kleinendorst

Affiliatie UvA Amsterdam Gastroenterology Endocrinology Metabolism Amsterdam Gastroenterology Endocrinology Metabolism Amsterdam Reproduction & Development (AR&D) Medical Specialist, Human Genetics Assistant Professor, Human Genetics

Specialization

Clinical Genetics

Focus of research

Genetic Obesity - genetic diagnostics, phenotyping, new treatment options

Syndromic obesity disorders

16p11.2 deletion syndrome
Bardet-Biedl syndrome
Disorders of GNAS inactivation
GNB1
PHIP (Chung-Jansen syndrome)
Schaaf-Yang syndrome

Non-syndromic obesity disorders

LEPR
MC4R
POMC
SIM1

Personalized medicine (Emma center for personalized medicine)

Treatment for rare genetic disorders
Proof-of-concept trial: Glibenclamide treatment for Cantú Syndroom

Latest publications

The diagnostic journey of a patient with prader–willi-like syndrome and a unique homozygous snurf-snrpn variant; bio-molecular analysis and review of the literature
Pellikaan, K., van Woerden, G. M., Kleinendorst, L., Rosenberg, A. G. W., Horsthemke, B., Grosser, C., van Zutven, L. J. C. M., van Rossum, E. F. C., van der Lely, A. J., Resnick, J. L., Brüggenwirth, H. T., van Haelst, M. M. & de Graaff, L. C. G., 1 Jun 2021, In: Genes. 12, 6, 875.
Research output: Contribution to journal › Article* › Academic › peer-review
DLG4-related synaptopathy: a new rare brain disorder: a new rare brain disorder
Rodríguez-Palmero, A., Boerrigter, M. M., Gómez-Andrés, D., Aldinger, K. A., Marcos-Alcalde, Í., Popp, B., Everman, D. B., Lovgren, A. K., Arpin, S., Bahrambeigi, V., Beunders, G., Bisgaard, A.-M., Bjerregaard, V. A., Bruel, A.-L., Challman, T. D., Cogné, B., Coubes, C., de Man, S. A., Denommé-Pichon, A.-S. & Dye, T. J. & 66 others, Elmslie, F., Feuk, L., García-Miñaúr, S., Gertler, T., Giorgio, E., Gruchy, N., Haack, T. B., Haldeman-Englert, C. R., Haukanes, B. I., Hoyer, J., Hurst, A. C. E., Isidor, B., Soller, M. J., Kushary, S., Kvarnung, M., Landau, Y. E., Leppig, K. A., Lindstrand, A., Kleinendorst, L., MacKenzie, A., Mandrile, G., Mendelsohn, B. A., Moghadasi, S., Morton, J. E., Moutton, S., Müller, A. J., O’Leary, M., Pacio-Míguez, M., Palomares-Bralo, M., Parikh, S., Pfundt, R., Pode-Shakked, B., Rauch, A., Repnikova, E., Revah-Politi, A., Ross, M. J., Ruivenkamp, C. A. L., Sarrazin, E., Savatt, J. M., Schlüter, A., Schönewolf-Greulich, B., Shad, Z., Shaw-Smith, C., Shieh, J. T., Shohat, M., Spranger, S., Thiese, H., Mau-Them, F. T., van Bon, B., van de Burgt, I., van de Laar, I. M. B. H., van Drie, E., van Haelst, M. M., van Ravenswaaij-Arts, C. M., Verdura, E., Vitobello, A., Waldmüller, S., Whiting, S., Zweier, C., Prada, C. E., de Vries, B. B. A., Dobyns, W. B., Reiter, S. F., Gómez-Puertas, P., Pujol, A. & Tümer, Z., May 2021, In: Genetics in medicine. 23, 5, p. 888-899 12 p.
Research output: Contribution to journal › Article* › Academic › peer-review
Genetic obesity: Disorders and diagnostics
Kleinendorst, L., 2021, 257 p.
Research output: PhD thesis › Thesis, fully internal
All publications

Lotte Kleinendorst

Specialization

Focus of research

The diagnostic journey of a patient with prader–willi-like syndrome and a unique homozygous snurf-snrpn variant; bio-molecular analysis and review of the literature

DLG4-related synaptopathy: a new rare brain disorder: a new rare brain disorder

Genetic obesity: Disorders and diagnostics

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