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  • Print publication year: 2011
  • Online publication date: September 2011

Chapter 18 - Genetic counseling

from Section 4 - Special aspects


1. Denier, C., Labauge, P., et al. Genotype-phenotype correlations in cerebral cavernous malformations patients. Ann Neurol 2006;60:550–556.
2. Surucu, O., Sure, U., et al. Clinical impact of CCM mutation detection in familial cavernous angioma. Childs Nerv Syst 2006;22:1461–1464.
3. Surucu, O., Sure, U., et al. Cavernoma of the trochlear nerve. Clin Neurol Neurosurg 2007;109:791–793.
4. Lucas, M., Costa, A. F., et al. Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene. BMC Neurol 2003;3:5.
5. Gianfrancesco, F., Cannella, M., et al. Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations. Am J Med Genet B Neuropsychiatr Genet 2007;144:691–695.
6. Ortiz, L., Costa, A. F., et al. Study of cerebral cavernous malformation in Spain and Portugal: high prevalence of a 14 bp deletion in exon 5 of MGC4607 (CCM2 gene). J Neurol 2007;254:322–326.
7. Eerola, I., McIntyre, B., et al. Identification of eight novel 5’-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1. Biochim Biophys Acta 2001;1517:464–467.
8. Zlotoff, B. J., Bang, R. H., et al. Cutaneous angiokeratoma and venous malformations in a Hispanic-American patient with cerebral cavernous malformations. Br J Dermatol 2007;157:210–212.
9. Lucas, M., Solano, F., et al. Spanish families with cerebral cavernous angioma do not bear 742C–>T Hispanic American mutation of the KRIT1 gene. Ann Neurol 2000;47:836.
10. Polymeropoulos, M. H., Hurko, O., et al. Linkage of the locus for cerebral cavernous hemangiomas to human chromosome 7q in four families of Mexican-American descent. Neurology 1997;48:752–757.
11. Borry, P., Stultiens, L., et al. Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers. Clin Genet 2006;70:374–381.
12. Borry, P.Coming of age of personalized medicine: challenges ahead. Genome Med 2009;1:109.