G M S Mancini
Affiliation: Erasmus MC
Country: The Netherlands
- Movement disorder and neuronal migration disorder due to ARFGEF2 mutationM C Y de Wit
Department of Pediatric Neurology, Erasmus MC Sophia Children s Hospital, Rotterdam, The Netherlands
Neurogenetics 10:333-6. 2009....
- Combined cardiological and neurological abnormalities due to filamin A gene mutationMarie 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...
- Hereditary porencephaly: clinical and MRI findings in two Dutch familiesG 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...
- Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch familiesG 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....
- Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defectsM 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...
- Brain abnormalities in a case of malonyl-CoA decarboxylase deficiencyM C Y de Wit
Department of Child Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
Mol Genet Metab 87:102-6. 2006....
- Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitusM 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...
- Lung disease in FLNA mutation: confirmatory reportM 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...
- Clinical features and X-inactivation in females heterozygous for creatine transporter defectJ 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...
- Absence epilepsy and periventricular nodular heterotopiaM 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...
- Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephalyG 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...
- NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type IcD 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...
- Studies on the pathogenesis of Costello syndromeG M S Mancini
J Med Genet 40:e37. 2003
- An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage diseaseR 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)...