Kempers, Marlies

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

Sun, Y., Bak, B., Schoenmakers, N., van Trotsenburg, A. S. P., Oostdijk, W., Voshol, P., Cambridge, E., White, J. K., le Tissier, P., Gharavy, S. N. M., et al. (2012) · Nature Genetics

Thyroid Disorders and TreatmentsHypothalamic control of reproductive hormones

Cited by 217

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Krone, N., Reisch, N., Idkowiak, J., Dhir, V., Ivison, H. E., Hughes, B. A., Rose, I. T., O'Neil, D. M., Vijzelaar, R., Smith, M. J., et al. (2012) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 163

Intellectual and motor development of young adults with congenital hypothyroidism diagnosed by neonatal screening

Kempers, M. J. E., van der Sluijs Veer, L., Nijhuis-van der Sanden, M. W. G., Kooistra, L., Wiedijk, B. M., Faber, I., Last, B. F., de Vijlder, J. J. M., Grootenhuis, M. A., & Vulsma, T. (2006) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsDown syndrome and intellectual disability research

Cited by 122

Neonatal Screening for Congenital Hypothyroidism Based on Thyroxine, Thyrotropin, and Thyroxine-Binding Globulin Measurement: Potentials and Pitfalls

Kempers, M. J. E., Lanting, C. I., van Heijst, A. F. J., van Trotsenburg, A. S. P., Wiedijk, B. M., de Vijlder, J. J. M., & Vulsma, T. (2006) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsMetabolism and Genetic Disorders

Cited by 109

Neonatal Screening for Congenital Hypothyroidism in The Netherlands: Cognitive and Motor Outcome at 10 Years of Age

Kempers, M. J. E., van der Sluijs Veer, L., Nijhuis-van der Sanden, R. W. G., Lanting, C. I., Kooistra, L., Wiedijk, B. M., Last, B. F., de Vijlder, J. J. M., Grootenhuis, M. A., & Vulsma, T. (2007) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsMetabolism and Genetic Disorders

Cited by 85

Aortic dilatation and outcome in women with Turner syndrome

Duijnhouwer, A. L., Bons, L. R., Timmers, H. J. L. M., van Kimmenade, R. R. L., Snoeren, M., Timmermans, J., van den Hoven, A. T., Kempers, M., van Dijk, A. P. J., Fleischer, K., et al. (2019) · Heart

Aortic Disease and Treatment ApproachesConnective tissue disorders research

Cited by 60

Recognizing the tenascin‐X deficient type of Ehlers–Danlos syndrome: a cross‐sectional study in 17 patients

Demirdas, S., Dulfer, E., Robert, L., Kempers, M., van Beek, D., Micha, D., van Engelen, B. G., Hamel, B., Schalkwijk, J., Loeys, B., et al. (2017) · Clinical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 60

Trisomy 21 Causes Persistent Congenital Hypothyroidism Presumably of Thyroidal Origin

Trotsenburg, A. S. P. V., Kempers, M. J. E., Endert, E., Tijssen, J. G. P., Vijlder, J. J. M. D., & Vulsma, T. (2006) · Thyroid

Thyroid Disorders and TreatmentsDown syndrome and intellectual disability research

Cited by 53

Quality of Life, Developmental Milestones, and Self-Esteem of Young Adults with Congenital Hypothyroidism Diagnosed by Neonatal Screening

van der Sluijs Veer, L., Kempers, M. J. E., Last, B. F., Vulsma, T., & Grootenhuis, M. A. (2008) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsThyroid and Parathyroid Surgery

Cited by 52

Myopathy in a 20‐year‐old female patient with D4ST‐1 deficient Ehlers‐Danlos syndrome due to a homozygous CHST14 mutation

Voermans, N. C., Kempers, M., Lammens, M., van Alfen, N., Janssen, M. C., Bönnemann, C., van Engelen, B. G., & Hamel, B. C. (2012) · American Journal of Medical Genetics Part A

Connective tissue disorders researchMuscle Physiology and Disorders

Cited by 36

Phenotype in girls and women with Turner syndrome: association between dysmorphic features, karyotype and cardio-aortic malformations

Noordman, I., Duijnhouwer, A., Kapusta, L., Kempers, M., Roeleveld, N., Schokking, M., Smeets, D., Freriks, K., Timmers, H., & van Alfen-van der Velden, J. (2018) · European Journal of Medical Genetics

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and Disorders

Cited by 35

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder

Hiatt, S. M., Thompson, M. L., Prokop, J. W., Lawlor, J. M. J., Gray, D. E., Bebin, E. M., Rinne, T., Kempers, M., Pfundt, R., van Bon, B. W., et al. (2019) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 29

Health- related quality of life and self-worth in 10-year old children with congenital hypothyroidism diagnosed by neonatal screening

van der Sluijs Veer, L., Kempers, M. J., Maurice-Stam, H., Last, B. F., Vulsma, T., & Grootenhuis, M. A. (2012) · Child and Adolescent Psychiatry and Mental Health

Thyroid Disorders and TreatmentsThyroid and Parathyroid Surgery

Cited by 16

Cardiac abnormalities in girls with Turner syndrome: ECG abnormalities, myocardial strain imaging, and karyotype–phenotype associations

Noordman, I. D., Fejzic, Z., Bos, M., Duijnhouwer, A. L., Weijers, G., Kempers, M., Merkx, R., van der Velden, J. A. E. M., & Kapusta, L. (2021) · American Journal of Medical Genetics Part A

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesWilliams Syndrome Research

Cited by 15

The Effect of Life-long Thyroxine Treatment and Physical Activity on Bone Mineral Density in Young Adult Women with Congenital Hypothyroidism

Kempers, M. J. E., Vulsma, Τ., Wiedijk, Β. Μ., de Vijlder, J. J. Μ., van Eck-Smit, B. L. F., & Verberne, H. J. (2006) · Journal of Pediatric Endocrinology and Metabolism

Thyroid Disorders and TreatmentsBone health and osteoporosis research

Cited by 14

No QTc prolongation in girls and women with Turner syndrome

Noordman, I. D., Duijnhouwer, A. L., Coert, M., Bos, M., Kempers, M., Timmers, H. J. L. M., Fejzic, Z., van der Velden, J. A. E. M., & Kapusta, L. (2020) · The Journal of Clinical Endocrinology & Metabolism

Cardiac electrophysiology and arrhythmiasGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 13