An analysis of epilepsy with chromosomal abnormalities
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Pueschel, 1991, Seizure disorders in Down syndrome, Arch Neurol, 48, 318, 10.1001/archneur.1991.00530150088024
Van Buggenhout, 1999, Down syndrome in a population of elderly mentally retarded patients: genetic-diagnostic survey and implications for medical care, Am J Med Genet, 85, 376, 10.1002/(SICI)1096-8628(19990806)85:4<376::AID-AJMG14>3.0.CO;2-Q
Ohtahara, 1993, Prenatal etiologies of West syndrome, Epilepsia, 34, 716, 10.1111/j.1528-1157.1993.tb00451.x
Silva, 1996, Early clinical and EEG features of infantile spasms in Down syndrome, Epilepsia, 37, 977, 10.1111/j.1528-1157.1996.tb00535.x
Novotny, 1987, The brain in partial trisomy 18: a case report, J Child Neurol, 2, 194, 10.1177/088307388700200304
Greve, 1993, Low frequency mosaicism of normal cells in a 16-year-old girl with trisomy 18, Clin Genet, 43, 83, 10.1111/j.1399-0004.1993.tb04454.x
Komine, 2002, Linear and whorled naevoid hypermelanosis: a case with systemic involvement and trisomy 18 mosaicism, Br J Dermatol, 146, 500, 10.1046/j.1365-2133.2002.04532.x
Iannaccone, 1995, Principles of molecular genetics and neurologic diseases, 557
Liberfarb, 1978, Chromosome 6q− and associated malformations, Ann Genet, 21, 223
Stevens, 1988, Report of two cases of distal deletion of the long arm of chromosome 6, Am J Med Genet, 29, 807, 10.1002/ajmg.1320290410
Oliveira-Duarte, 1990, Distal monosomy of the long arm of chromosome 6 (6q25→6qter) inherited by maternal translocation t(6q;17q), Ann Genet, 33, 56
McLeod, 1990, Chromosome 6q deletions: a report of two additional cases and a review of the literature, Am J Med Genet, 35, 79, 10.1002/ajmg.1320350115
Pirola, 1998, Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25, J Med Genet, 35, 1031, 10.1136/jmg.35.12.1031
McCormack, 2002, Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy–Walker malformation, Am J Med Genet, 112, 384, 10.1002/ajmg.10659
Savukoski, 1994, Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinosis, Am J Hum Genet, 55, 695
Bredberg, 1982, Duplication of part of the long arm of chromosome 8 due to a familial 8;13 translocation, Hereditas, 96, 105, 10.1111/j.1601-5223.1982.tb00041.x
Guerrini, 1996, Cortical myoclonus in Angelman syndrome, Ann Neurol, 40, 39, 10.1002/ana.410400109