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  1. No Access

    Article

    Need for early recognition and therapeutic guidelines of congenital sideroblastic anaemia

    We present a patient with iron overload, who was initially diagnosed with hereditary haemochromatosis. Family analysis, however, established that the iron overload was secondary to congenital sideroblastic ana...

    M. L. H. Cuijpers, D. J. van Spronsen, P. Muus… in International Journal of Hematology (2011)

  2. Article

    Open Access

    Jeune syndrome: description of 13 cases and a proposal for follow-up protocol

    Jeune syndrome (asphyxiating thoracic dystrophy, ATD) is a rare autosomal recessive skeletal dysplasia characterized by a small, narrow chest and variable limb shortness with a considerable neonatal mortality ...

    J. de Vries, J. L. Yntema, C. E. van Die, N. Crama… in European Journal of Pediatrics (2010)

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  3. No Access

    Article

    Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies

    Congenital and adultonset inherited myopathies represent a wide spectrum of syndromes. Classification is based upon clinical features and biochemical and genetic defects. Joint hypermobility is one of the dist...

    N. C. Voermans, C. G. Bonnemann, B. C. J. Hamel, H. Jungbluth… in Journal of Neurology (2009)

  4. No Access

    Article

    Maternal uniparental disomy 7 – review and further delineation of the phenotype

    Uniparental disomy (UPD) is defined as the inheritance of both homologous chromosomes from only one parent. So far, maternal UPD 7 has been described in 28 cases. Here, we report 4 new cases, present clinical...

    D. Kotzot, D. Balmer, A. Baumer, K. Chrzanowska… in European Journal of Pediatrics (2000)

  5. No Access

    Article

    Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood

    Linkage analysis is described in a family with X-linked mental retardation, ataxia, weakness, floppiness, delayed motor development, absence of deep tendon reflexes, hearing impairment and loss of vision (MIM ...

    H. Kremer, B. C. J. Hamel, B. van den Helm, W. F. M. Arts, I. J. de Wijs… in Human Genetics (1996)

  6. No Access

    Article

    Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism

    Point mutations in mitochondrial DNA, as found in MELAS, MERRF, NARP and other syndromes, are inherited via the maternal lineage. Genetic counselling can be beneficial, but prenatal diagnosis is not advantageo...

    W. Ruitenbeek, U. Wendel, B. C. J. Hamel… in Journal of Inherited Metabolic Disease (1996)

  7. No Access

    Article

    Additional congenital defects in anorectal malformations

    From 1974 until 1995 a total of 264 (141 ♂, 123 ♀) patients born with an anorectal malformation (ARM) were referred to the University Hospital Nijmegen in the Netherlands. All additional congenital defects (AC...

    E. A. M. Hassink, P. N. M. A. Rieu, B. C. J. Hamel… in European Journal of Pediatrics (1996)

  8. No Access

    Article

    Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family

    Alagille syndrome (AGS) or arteriohepatic dysplasia is a rare but well-defined clinical entity that is usually inherited as an autosomal dominant trait. A limited number of patients carry a deletion in chromos...

    F. A. Hol, B. C. J. Hamel, M. P. A. Geurds, I. Hansmann, F. A. E. Nabben… in Human Genetics (1995)

  9. No Access

    Article

    Royal academy of medicine in Ireland international conference on homocysteine metabolism from basic science to clinical medicine

    K. Björkegren, C. Bergmark, U. de Faire… in Irish Journal of Medical Science (1995)

  10. No Access

    Article

    Exclusion map** of the gene for X-linked neural tube defects in an Icelandic family

    Various polymorphic markers with a random distribution along the X chromosome were used in a linkage analysis performed on a family with apparently Xlinked recessive inheritance of neural tube defects (NTD). T...

    F. A. Hol, M. P. A. Geurds, O. Jensson, B. C. J. Hamel, G. E. Moore… in Human Genetics (1994)

  11. No Access

    Article

    Craniofrontonasal dysplasia

    We report on nine patients with craniofrontonasal dysplasia (CFND). Seven classical cases had facial features suggestive of frontonasal dysplasia and coronal craniosynostosis. Extracranial abnormalities such a...

    L. Kapusta, H. G. Brunner, B. C. J. Hamel in European Journal of Pediatrics (1992)

  12. No Access

    Chapter and Conference Paper

    Prader-Willi Syndrome and Angelman Syndrome in Two Female Cousins as a Result of a Familial Translocation

    Two first cousins, one with Prader-Willi Syndrome (PWS) and one with Angelman Syndrome (AS), were both found to have familial translocation 6;15. Cytogenetic and molecular analysis indicate that the child with...

    D. F. C. M. Smeets, M. R. Nelen, B. C. J. Hamel, A. P. T. Smits… in Prader-Willi Syndrome (1992)

  13. No Access

    Article

    Sideroblastic Anaemia

    Sideroblastic Anaemias are characterised by a) chronic hypochromic anaemia, b) ringed sideroblasts in the bone marrow, c) an increase in total body iron, d) ineffective erythropoiesis and e) often abnormal con...

    B. C. J. Hamel, E. D. A. M. Schretlen in European Journal of Pediatrics (1982)