G M S Mancini

Summary

Affiliation: Erasmus MC
Country: The Netherlands

Publications

  1. pmc Movement disorder and neuronal migration disorder due to ARFGEF2 mutation
    M C Y de Wit
    Department of Pediatric Neurology, Erasmus MC Sophia Children s Hospital, Rotterdam, The Netherlands
    Neurogenetics 10:333-6. 2009
  2. pmc Combined cardiological and neurological abnormalities due to filamin A gene mutation
    Marie Claire Y de Wit
    Department of Neurology, Erasmus MC, PO Box 2040, 3000 CA, Rotterdam, The Netherlands
    Clin Res Cardiol 100:45-50. 2011
  3. ncbi request reprint Hereditary porencephaly: clinical and MRI findings in two Dutch families
    G M S Mancini
    Department of Clinical Genetics, Erasmus University Medical Center, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Eur J Paediatr Neurol 8:45-54. 2004
  4. ncbi request reprint Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families
    G M S Mancini
    Department of Clinical Genetics, Erasmus University MC Sophia Children s Hospital, Rotterdam, The Netherlands
    Am J Med Genet A 132:288-95. 2005
  5. doi request reprint Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects
    M C Y de Wit
    Department of Neurology, Erasmus MC, Rotterdam, The Netherlands
    J Neurol Neurosurg Psychiatry 80:426-8. 2009
  6. ncbi request reprint Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency
    M C Y de Wit
    Department of Child Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    Mol Genet Metab 87:102-6. 2006
  7. ncbi request reprint Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus
    M C Y de Wit
    Department of Pediatric Neurology, Erasmus Medical Center Sophia Children s Hospital, Rotterdam, The Netherlands
    Neurogenetics 7:259-63. 2006
  8. doi request reprint Lung disease in FLNA mutation: confirmatory report
    M C Y de Wit
    Department of Pediatric Neurology, Erasmus MC Sophia Children s Hospital, PO Box 2060, 3000 CB Rotterdam, The Netherlands
    Eur J Med Genet 54:299-300. 2011
  9. doi request reprint Clinical features and X-inactivation in females heterozygous for creatine transporter defect
    J M van de Kamp
    Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Clin Genet 79:264-72. 2011
  10. doi request reprint Absence epilepsy and periventricular nodular heterotopia
    M C Y de Wit
    Dept of Pediatric Neurology, Erasmus MC Sophia Children s Hospital, P O Box 2040, 3000 CA, The Netherlands
    Seizure 19:450-2. 2010

Collaborators

  • M H Lequin
  • J M Kros
  • Femke K Aarsen
  • Gajja S Salomons
  • W J Kleijer
  • R Gatti
  • Antonio Rossi
  • Roberta Biancheri
  • M C Y de Wit
  • I F M de Coo
  • J M van de Kamp
  • Marie Claire Y de Wit
  • D J J Halley
  • W F M Arts
  • G Breedveld
  • E Verbeek
  • D Melis
  • Dicky J J Halley
  • H A W M Tiddens
  • P J W Pouwels
  • Irenaeus F M De Coo
  • I de Koning
  • C Jakobs
  • Jolien W Roos-Hesselink
  • S J M van Dooren
  • O T Betsalel
  • M S van der Knaap
  • M E Steenweg
  • G H Visser
  • A Brooks
  • H M Schippers
  • B C Jacobs
  • R Verdijk
  • F W Verheijen
  • R Schot
  • J B C de Klerk
  • B Oostra
  • I van de Laar
  • D B Gould
  • S W M John
  • P Heutink
  • G J Bruining
  • M Duran
  • G C Schoonderwoerd
  • B J Sibbles
  • I F de Coo
  • J G M Huijmans
  • M Delepine
  • C Julier
  • F Verheijen
  • A Benedetti
  • A C Havelaar
  • G P A Smit

Detail Information

Publications14

  1. pmc Movement disorder and neuronal migration disorder due to ARFGEF2 mutation
    M C Y de Wit
    Department of Pediatric Neurology, Erasmus MC Sophia Children s Hospital, Rotterdam, The Netherlands
    Neurogenetics 10:333-6. 2009
    ....
  2. pmc Combined cardiological and neurological abnormalities due to filamin A gene mutation
    Marie Claire Y de Wit
    Department of Neurology, Erasmus MC, PO Box 2040, 3000 CA, Rotterdam, The Netherlands
    Clin Res Cardiol 100:45-50. 2011
    ..We noticed that some patients diagnosed at the neurogenetics clinic had first presented to a cardiologist, suggesting that earlier recognition may be possible if the diagnosis is suspected...
  3. ncbi request reprint Hereditary porencephaly: clinical and MRI findings in two Dutch families
    G M S Mancini
    Department of Clinical Genetics, Erasmus University Medical Center, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Eur J Paediatr Neurol 8:45-54. 2004
    ..The lesions are most compatible with a deep venous thrombosis/ischemic event occurring in a late stage of pregnancy, not necessarily aggravated by perinatal asphyxia...
  4. ncbi request reprint Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families
    G M S Mancini
    Department of Clinical Genetics, Erasmus University MC Sophia Children s Hospital, Rotterdam, The Netherlands
    Am J Med Genet A 132:288-95. 2005
    ....
  5. doi request reprint Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects
    M C Y de Wit
    Department of Neurology, Erasmus MC, Rotterdam, The Netherlands
    J Neurol Neurosurg Psychiatry 80:426-8. 2009
    ..Postmortally, the diagnosis of a filamin A mutation was confirmed. Recognition during life may prevent cardiovascular problems and provide possibilities for genetic counselling...
  6. ncbi request reprint Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency
    M C Y de Wit
    Department of Child Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    Mol Genet Metab 87:102-6. 2006
    ....
  7. ncbi request reprint Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus
    M C Y de Wit
    Department of Pediatric Neurology, Erasmus Medical Center Sophia Children s Hospital, Rotterdam, The Netherlands
    Neurogenetics 7:259-63. 2006
    ..Our findings suggest that in some cases, early onset IDDM and SGP can arise from common mechanisms leading to increased apoptosis...
  8. doi request reprint Lung disease in FLNA mutation: confirmatory report
    M C Y de Wit
    Department of Pediatric Neurology, Erasmus MC Sophia Children s Hospital, PO Box 2060, 3000 CB Rotterdam, The Netherlands
    Eur J Med Genet 54:299-300. 2011
    ..Surgical resection of the right middle lobe was necessary and she had long-term oxygen dependency. Symptoms improved with age...
  9. doi request reprint Clinical features and X-inactivation in females heterozygous for creatine transporter defect
    J M van de Kamp
    Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Clin Genet 79:264-72. 2011
    ..We conclude that testing for creatine transporter defect should be considered in females with (mild) mental retardation. Screening by DNA analysis of the SLC6A8 gene is recommended...
  10. doi request reprint Absence epilepsy and periventricular nodular heterotopia
    M C Y de Wit
    Dept of Pediatric Neurology, Erasmus MC Sophia Children s Hospital, P O Box 2040, 3000 CA, The Netherlands
    Seizure 19:450-2. 2010
    ..Migration disorders, such as in the periventricular heterotopia of our patient, may influence the formation and excitability of the striato-thalamo-cortical network involved in the generation of 3 Hz spike-waves...
  11. pmc Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly
    G Breedveld
    Department of Clinical Genetics, Erasmus University Medical Centre, PO Box 1738, 3000 DR Rotterdam, Netherlands
    J Med Genet 43:490-5. 2006
    ..A report of inherited mutations in COL4A1 in two families has shown that familial porencephaly may have the same cause in humans...
  12. ncbi request reprint NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic
    D Melis
    Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands
    J Inherit Metab Dis 27:725-33. 2004
    ..Our results do not confirm the hypothesis that this gene is mutated in GSD Ic patients. However, we cannot exclude that the mutation found reduces the phosphate transport efficiency, possibly modulating the G6-Pase complex...
  13. pmc Studies on the pathogenesis of Costello syndrome
    G M S Mancini
    J Med Genet 40:e37. 2003
  14. ncbi request reprint An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease
    R Biancheri
    III Department of Paediatrics, G Gaslini Institute, University of Genova, Genova, Italy
    Clin Genet 61:443-7. 2002
    ..Conversely, mutations found in ISSD can be expected, even in patients showing the Salla phenotype (e.g. symptoms at the milder end of the spectrum)...