Agnies van Eeghen

Search results

• 2024

  Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review

  Kwetsie, H., van Schaijk, M., Van Der Lee, S., Maes-Festen, D., Ten Hoopen, L. W., van Haelst, M. M., Coesmans, M., Van Den Berg, E., De Wit, M. C. Y., Pijnenburg, Y., Aronica, E., Boot, E. & Van Eeghen, A. M., 11 Jun 2024, In: Neurology. 102, 11, e209413.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Diseases 100%
  • Systematic Review 100%
  • Mental Disease 100%
  • Psychopathology 100%
  • Genetics 100%
  1 Citation (Scopus)

  6 Downloads (Pure)

• Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes: from clinical manifestations towards personalized treatment options

  Vos, N., Kleinendorst, L., van der Laan, L., van Uhm, J., Jansen, P. R., van Eeghen, A. M., Maas, S. M., Mannens, M. M. A. M. & van Haelst, M. M., 11 Apr 2024, (E-pub ahead of print) In: European journal of human genetics : EJHG. 15 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Microcephaly 100%
  • Macrocephaly 100%
  • Body Mass Index 100%
  • Polyphagia 100%
  • Intellectual and Developmental Disabilities 100%
  2 Downloads (Pure)
• 2023

  Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome

  van Eeghen, A. M., European Phelan-McDermid syndrome guideline consortium, ERN ITHACA Guideline Working Group, Gaasterland, C. M. W., Haneveld, M. J. K., van Eeghen, A. M., van Eeghen, A. M., van Eeghen, A. M., van Eeghen, A. M., Stemkens, D., Fernández-Fructuoso, J. R., Maruani, A., Maruani, A., Maruani, A., Hadzsiev, K., Hadzsiev, K., van Balkom, I. D. C., van Balkom, I. D. C., van Balkom, I. D. C. & Alhambra, N. & 32 others, Anderlid, B. M., Anderlid, B. M., Andres, S., Aten, E., Guedes, R. B., Bonaglia, M. C., Bourgeron, T., Burdeus-Olavarrieta, M., Burdeus-Olavarrieta, M., Carbin, M. J., Kuiper, E., Cooke, J., Damstra, R. J., de Coo, I. F. M., Di Domenico, S., Evans, D. G., Fernández-Fructuoso, J. R., Grabrucker, A. M., Grabrucker, A. M., Grabrucker, A. M., Gunnarson, C., Gunnarson, C., Gunnarson, C., Hennekam, R. C., Jesse, S., Kant, S. G., Koza, S. A., van Ravenswaaij-Arts, C. M. A., Walinga, M., Landlust, A. M., van Ravenswaaij-Arts, C. M. A. & van Eeghen, A. M., Jul 2023, In: European Journal of Medical Genetics. 66, 7, 104747.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Organization of Care 100%
  • Phelan-McDermid Syndrome 100%
  • 22q13 Deletion Syndrome 100%
  • Health Care Personnel 25%
  • Mental Disease 25%
  4 Citations (Scopus)

  25 Downloads (Pure)
• 2022

  Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study

  von Scheibler, E. N. M. M., van der Valk Bouman, E. S., Nuijts, M. A., Bauer, N. J. C., Berendschot, T. T. J. M., Vermeltfoort, P., Bok, L. A., van Eeghen, A. M., Houben, M. L., van Amelsvoort, T. A. M. J., Boot, E. & van Egmond-Ebbeling, M. B., Feb 2022, In: American Journal of Medical Genetics, Part A. 188, 2, p. 569-578 10 p.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access

  File

  • Refractive Error 100%
  • Agents Acting on the Eye 100%
  • Amblyopia 100%
  • Strabismus 100%
  • Systematic Review 100%
  5 Citations (Scopus)

  91 Downloads (Pure)
• 2021

  What every internist-endocrinologist should know about rare genetic syndromes in order to prevent needless diagnostics, missed diagnoses and medical complications: Five years of ‘internal medicine for rare genetic syndromes’

  Rosenberg, A. G. W., Pater, M. R. A., Pellikaan, K., Davidse, K., Kattentidt-Mouravieva, A. A., Kersseboom, R., Bos-Roubos, A. G., Van Eeghen, A., Veen, J. M. C., Van Der Meulen, J. J., Van Aalst-Van Wieringen, N., Hoekstra, F. M. E., Van Der Lely, A. J. & De Graaff, L. C. G., 22 Nov 2021, In: Journal of Clinical Medicine. 10, 22, 5457.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Genetic Disorder 100%
  • Diagnosis 100%
  • Endocrinologist 100%
  • Internal Medicine 100%
  • Diseases 25%
  7 Citations (Scopus)

  20 Downloads (Pure)

• Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders The Power of 1

  Mueller, A. R., Brands, M. M. M. G., van de Ven, P. M., Roes, K. C. B., Cornel, M. C., van Karnebeek, C. D. M., Wijburg, F. A., Daams, J. G., Boot, E. & van Eeghen, A. M., 16 Mar 2021, In: Neurology. 96, 11, p. 529-540 12 p.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access

  File

  • Diseases 100%
  • Systematic Review 100%
  • Genetics 100%
  • Critical Appraisal 25%
  • Orphan Disorder 25%
  36 Citations (Scopus)

  65 Downloads (Pure)
• 2020

  Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents

  Van Remmerden, M., Hoogland, L., Herrman - Mous, S., Dierckx, B., Coesmans, M., Moll, H., Lubbers, K., Lincke, C. & van Eeghen, A., 2020, In: Journal of Autism and Developmental Disorders. 50, 6, p. 2174-2187 14 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File
  12 Citations (Scopus)

  22 Downloads (Pure)
• 2019

  Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): current perspectives

  Overwater, I., Rietman, A., van Eeghen, A. & de Wit, M. C., 2019, In: Therapeutics and Clinical Risk Management. 15, p. 951-955 5 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File
  46 Citations (Scopus)

  28 Downloads (Pure)

• Thyroid function in males with fragile X syndrome

  Huisman, S., Wiedijk, B., van Eeghen, A., Hennekam, R. & van Trotsenburg, A., 2019, In: Journal of Pediatric Endocrinology & Metabolism. 32, 8, p. 903-905 3 p.

  Research output: Contribution to journal › Article › Academic › peer-review
• 2018

  Fragiele-X-syndroom: Nieuwe therapeutische strategieën

  Translated title of the contribution: Fragile X syndrome: New therapeutic strategiesZeidler, S., Dierckx, B., Lubbers, K., Van Eeghen, A. M., Lincke, C. R., Kievit, J. A., Willemsen, R. & Rietman, A., May 2018, In: Tijdschrift voor Psychiatrie. 60, 5, p. 338-342 5 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Fragile X Syndrome 100%
  • Targeted Therapy 60%
  • Intellectual and Developmental Disabilities 40%
  • Patient Care 40%
  • Pervasive Developmental Disorder 40%
  14 Downloads (Pure)

• Fragiele-X-syndroom: nieuwe therapeutische strategieën = Fragile X Syndrome: New Therapeutic Strategies

  Zeidler, S., Dierckx, B., Lubbers, K., van Eeghen, A., Lincke, C., Kieviet, J., Willemsen, R. & Rietman, A., 2018, In: Tijdschrift voor Psychiatrie. 60, 5, p. 338-342 5 p.

  Research output: Contribution to journal › Article › Professional › peer-review

  Open Access

  File
  8 Downloads (Pure)

• Tuberous sclerosis complex: Concerns and needs of patients and parents from the transitional period to adulthood

  Both, P., ten Holt, L., Herrman - Mous, S., Patist, J., Rietman, A., Dieleman, G., ten Hoopen, L., Vergeer, M., Wit, C., Bindels - de Heus, K., Moll, H. & van Eeghen, A., 2018, In: Epilepsy & Behavior. 83, p. 13-21 9 p.

  Research output: Contribution to journal › Article › Academic
  31 Citations (Scopus)

• Worries and needs of adults and parents of adults with neurofibromatosis type 1

  Rietman, A., Helden, H., Both, P., Taal, W., Legerstee, J., van Staa, A., Moll, H., Oostenbrink, R. & van Eeghen, A., 2018, In: American Journal of Medical Genetics Part A. 176, 5, p. 1150-1160 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File
  30 Citations (Scopus)

  17 Downloads (Pure)
• 2016

  Genotype and brain pathology phenotype in children with tuberous sclerosis complex

  Overwater, I., Swenker, R., van der Ende, E., Hanemaayer, K., Hoogeveen - Westerveld, M., van Eeghen, A., Lequin, M., van den Ouweland, A., Moll, H., Nellist, M. & de Wit, M. C., 2016, In: European Journal of Human Genetics. 24, 12, p. 1688-1695 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  30 Citations (Scopus)
• 2013

  Identifying Determinants for Neurobehavioral Morbidity In Tuberous Sclerosis Complex

  van Eeghen, A., 17 Dec 2013, Erasmus Universiteit Rotterdam (EUR).

  Research output: Types of Thesis › Doctoral Thesis › Externally prepared

  Open Access

  File
  35 Downloads (Pure)

• Central TSC2 missense mutations are associated with a reduced risk of infantile spasms

  van Eeghen, A., Nellist, M., van Eeghen, E. & Thiele, E., 2013, In: Epilepsy Research. 103, 1, p. 83-87 5 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  31 Citations (Scopus)
• 2012

  Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex

  Hoogeveen - Westerveld, M., Ekong, R., Povey, S., Karbassi, I., Batish, S., Dunnen, J., van Eeghen, A., Thiele, E., Mayer, K., Dies, K., Wen, L., Thompson, C., Sparagana, S., Davies, P., Aalfs, C., van den Ouweland, A., Halley, D. & Nellist, M., 2012, In: Human Mutation. 33, 3, p. 476-479 4 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  43 Citations (Scopus)