M J E Walenkamp

Summary

Affiliation: Leiden University Medical Center
Country: The Netherlands

Publications

  1. ncbi request reprint Structural and functional characteristics of the Val44Met insulin-like growth factor I missense mutation: correlation with effects on growth and development
    Adam Denley
    School of Molecular and Biomedical Science, University of Adelaide, Adelaide, 5005 South Australia
    Mol Endocrinol 19:711-21. 2005
  2. ncbi request reprint Genetic disorders in the growth hormone - insulin-like growth factor-I axis
    M J E Walenkamp
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Horm Res 66:221-30. 2006
  3. doi request reprint Single gene mutations causing SGA
    Marie J E Walenkamp
    Department of Paediatrics, J6 S, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, The Netherlands
    Best Pract Res Clin Endocrinol Metab 22:433-46. 2008
  4. ncbi request reprint Genetic disorders in the GH IGF-I axis in mouse and man
    M J E Walenkamp
    Department of Pediatrics J6 S, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands
    Eur J Endocrinol 157:S15-26. 2007
  5. doi request reprint The severe short stature in two siblings with a heterozygous IGF1 mutation is not caused by a dominant negative effect of the putative truncated protein
    H A van Duyvenvoorde
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Growth Horm IGF Res 21:44-50. 2011
  6. ncbi request reprint A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor
    M J E Walenkamp
    Department of Pediatrics J6 S, Leiden University Medical Center, P O Box 9600, 2300 RC Leiden, The Netherlands
    J Clin Endocrinol Metab 91:3062-70. 2006
  7. doi request reprint Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene
    H A van Duyvenvoorde
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    J Clin Endocrinol Metab 95:E363-7. 2010
  8. ncbi request reprint Tall stature and duplication of the insulin-like growth factor I receptor gene
    S G Kant
    Department of Clinical Genetics, CHCG, Leiden University Medical Center, Leiden, The Netherlands
    Eur J Med Genet 50:1-10. 2007
  9. doi request reprint Molecular IGF-1 and IGF-1 receptor defects: from genetics to clinical management
    M J E Walenkamp
    Department of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands
    Endocr Dev 24:128-37. 2013
  10. ncbi request reprint Disturbances of growth and endocrine function after busulphan-based conditioning for haematopoietic stem cell transplantation during infancy and childhood
    B Bakker
    Department of Pediatrics, J6 208, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands
    Bone Marrow Transplant 33:1049-56. 2004

Collaborators

Detail Information

Publications18

  1. ncbi request reprint Structural and functional characteristics of the Val44Met insulin-like growth factor I missense mutation: correlation with effects on growth and development
    Adam Denley
    School of Molecular and Biomedical Science, University of Adelaide, Adelaide, 5005 South Australia
    Mol Endocrinol 19:711-21. 2005
    ....
  2. ncbi request reprint Genetic disorders in the growth hormone - insulin-like growth factor-I axis
    M J E Walenkamp
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Horm Res 66:221-30. 2006
    ..To help in this selection process, we developed flowcharts, based on the recently described patients, that can be used as guidelines in the diagnostic process of patients with severe short stature of unknown origin...
  3. doi request reprint Single gene mutations causing SGA
    Marie J E Walenkamp
    Department of Paediatrics, J6 S, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, The Netherlands
    Best Pract Res Clin Endocrinol Metab 22:433-46. 2008
    ..The phenotype in relation to the genotype of the different disorders will be reviewed in this chapter...
  4. ncbi request reprint Genetic disorders in the GH IGF-I axis in mouse and man
    M J E Walenkamp
    Department of Pediatrics J6 S, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands
    Eur J Endocrinol 157:S15-26. 2007
    ..Finally, the implications of a genetic defect in the GH-IGF-I axis for the patient and the therapeutic options will be discussed...
  5. doi request reprint The severe short stature in two siblings with a heterozygous IGF1 mutation is not caused by a dominant negative effect of the putative truncated protein
    H A van Duyvenvoorde
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Growth Horm IGF Res 21:44-50. 2011
    ..In this paper we describe the structural and functional characteristics of the putative truncated IGF-I protein...
  6. ncbi request reprint A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor
    M J E Walenkamp
    Department of Pediatrics J6 S, Leiden University Medical Center, P O Box 9600, 2300 RC Leiden, The Netherlands
    J Clin Endocrinol Metab 91:3062-70. 2006
    ..The type 1 IGF-I receptor (IGF1R) mediates the biological functions of IGF-I. Binding of IGF-I to the IGF1R results in autophosphorylation of the intracellular beta-subunit and activation of intracellular signaling...
  7. doi request reprint Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene
    H A van Duyvenvoorde
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    J Clin Endocrinol Metab 95:E363-7. 2010
    ..Homozygous IGF1 deletions or mutations lead to severe short stature, deafness, microcephaly, and mental retardation. Heterozygosity for an IGF-I defect may modestly decrease height and head circumference...
  8. ncbi request reprint Tall stature and duplication of the insulin-like growth factor I receptor gene
    S G Kant
    Department of Clinical Genetics, CHCG, Leiden University Medical Center, Leiden, The Netherlands
    Eur J Med Genet 50:1-10. 2007
    ..Looking for a duplication of the 15qter region is still worth consideration in patients with tall stature and features of Sotos syndrome without an NSD1 alteration, especially when there is craniosynostosis or marked speech delay...
  9. doi request reprint Molecular IGF-1 and IGF-1 receptor defects: from genetics to clinical management
    M J E Walenkamp
    Department of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands
    Endocr Dev 24:128-37. 2013
    ..Data on GH treatment in these children are limited, showing a poor to modest growth response...
  10. ncbi request reprint Disturbances of growth and endocrine function after busulphan-based conditioning for haematopoietic stem cell transplantation during infancy and childhood
    B Bakker
    Department of Pediatrics, J6 208, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands
    Bone Marrow Transplant 33:1049-56. 2004
    ..We conclude that, besides gonadal and thyroid dysfunction, impaired growth and hyperparathyroidism often occur after Bu/Cy conditioning for SCT and that growth impairment may be the result of insufficient GH secretion...
  11. doi request reprint Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification
    Marie J E Walenkamp
    Department of Pediatrics J6 S, Leiden University Medical Center, Leiden, The Netherlands
    J Clin Endocrinol Metab 93:2421-5. 2008
    ..The incidence of submicroscopic deletions is unknown, as is the effect of GH therapy in this condition...
  12. ncbi request reprint Height gain with combined growth hormone and gonadotropin-releasing hormone analog therapy in two pubertal siblings with a growth hormone-releasing hormone receptor mutation
    Marie J E Walenkamp
    Department of Pediatrics J6 S, Leiden University Medical Center, P O Box 9600, 2300 RC Leiden, The Netherlands
    J Clin Endocrinol Metab 93:204-7. 2008
    ..Few data are available about the efficacy of treatment with GH in combination with a GnRH analog (GnRHa) in adolescence...
  13. doi request reprint Genetic analysis of GHR should contain sequencing of all coding exons and specific intron sequences, and screening for exon deletions
    M J E Walenkamp
    Department of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands
    Horm Res Paediatr 80:406-12. 2013
    ..Repeated analysis of the GHR showed no abnormalities; however, further testing revealed a heterozygous STAT5B defect in both siblings...
  14. ncbi request reprint Growth hormone secretion and immunological function of a male patient with a homozygous STAT5b mutation
    Marie J E Walenkamp
    Department of Pediatrics, Leiden University Medical Center, The Netherlands
    Eur J Endocrinol 156:155-65. 2007
    ..The purpose of this study is to describe the phenotype in detail, including GH secretion and immunological function. In addition, we report four family members of this patient, all heterozygous carriers of the mutation...
  15. ncbi request reprint Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation
    Solrun Vidarsdottir
    Department of Pediatrics J6 S, Leiden University Medical Center, P O Box 9600, 2300 RC, Leiden, The Netherlands
    J Clin Endocrinol Metab 91:3482-5. 2006
    ..Recently, two female patients with severe growth retardation and pulmonary and immunological problems were described with a defect in STAT5b, a critical intermediary of downstream GHR signaling...
  16. ncbi request reprint Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation
    M J E Walenkamp
    Department of Pediatrics J6 S, Leiden University Medical Center, P O Box 9600, 2300 RC Leiden, The Netherlands
    J Clin Endocrinol Metab 90:2855-64. 2005
    ..Remarkably, IGF-I deficiency is relatively well tolerated during the subsequent four decades of adulthood. IGF-I haploinsufficiency results in subtle inhibition of intrauterine and postnatal growth...
  17. ncbi request reprint Adult height corrected for shrinking and secular trend
    R Niewenweg
    Department of Paediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Ann Hum Biol 30:563-9. 2003
    ....
  18. ncbi request reprint Confusion around the definition of small for gestational age
    Jan M Wit
    Pediatr Endocrinol Rev 3:52-3; author reply 54. 2005