Prenatal diagnosis and further clinical characteristics of spina bifida
Tài liệu tham khảo
Sadler, 1995, The development of the central nervous system, 385
Vígh B. The development of the nervous system. In: Humán embryológia SOTE, egyetemi jegyzet, Budapest. 1990, p. 40–56
Frey, 2003, Epidemiology of neural tube defects, Epilepsia, 44, 4, 10.1046/j.1528-1157.44.s3.2.x
Holmes, 1976, Etiologic heterogeneity of neural tube defects, N Eng J Med, 294, 365, 10.1056/NEJM197602122940704
Joó, 2007, Neural tube defects in the sample of genetic counselling, Prenat Diagn, 27, 912, 10.1002/pd.1801
Papp, 1997, Polygenic inheritance in the etiology of craniospinal defects, 75
Papp, 1992, Neural tube defects, 117
Feldmann, 1982, The prevalence of neural tube defects among ethnic groups in Brooklyn, New York, J Chron Dis, 35, 53, 10.1016/0021-9681(82)90029-7
Jacobsen, 1996, Regional variations in neural tube defects and alfa-fetoprotein screening in Denmark, Acta Obstet Gynecol Scand, 75, 620, 10.3109/00016349609054685
Papp, 1995, Impact of prenatal mid-trimester screening on the prevalence of fetal structural anomalies: a prospective epidemiological study, Ultrasound Obstet Gynecol, 6, 320, 10.1046/j.1469-0705.1995.06050320.x
Joó, 2010, Isolated spina bifida and the combination of spina bifida and hydrocephalus in the practice of genetic counselling, Magy Nőorv L, 73, 229
Hall, 1988, Clinical, genetic and epidemiological factors in neural tube defects, Am J Hum Genet, 43, 827
Hume, 1996, Aneuploidy among prenatally diagnosed neural tube defects, Am J Med Genet, 61, 171, 10.1002/(SICI)1096-8628(19960111)61:2<171::AID-AJMG14>3.0.CO;2-R
Shaw, 2002, Epidemiologic characteristics of phenotypically distinct neural tube defects among 0.7 million California births 1983–1987, Teratology, 49, 143, 10.1002/tera.1420490210
Mills, 1989, The absence of a relation between the periconceptional use of vitamins and NTD, N Engl J Med, 17, 430, 10.1056/NEJM198908173210704
Buccimazza, 1994, Prevalence of neural tube defects in Cape Town, South Africa, Teratology, 50, 194, 10.1002/tera.1420500304
Mariman, 1992, Sex ratios of affected and transmitting members of multiple case with NTDs, Med Genet, 29, 695, 10.1136/jmg.29.10.695
Main, 1980, Neural tube defects: issues in prenatal diagnoses and counselling, Obstet Gynecol, 67, 1
Nyberg, 1994, Ultrasound as a screening test for neural tube defects (and other important anomalies), Ultrasound Obstet Gynecol, 4, 265, 10.1046/j.1469-0705.1994.04040265.x
Rodriguez, 1992, Anencephaly and limb deficiencies, Am J Med Genet, 44, 66, 10.1002/ajmg.1320440116
Joó, 2008, Craniospinal malformations in a twelve-year fetopathological study; the efficacy of ultrasonography in view of fetopathologiocal investigations, Early Hum Dev, 84, 115, 10.1016/j.earlhumdev.2007.03.012
Milunsky, 2004, Maternal serum screening for neural tube defects and other defects, 719
Pinar, 1998, Central nervous system malformations in a perinatal/neonatal autopsy series, Pediatr Dev Pathol, 1, 42, 10.1007/s100249900005
Miller, 2000, Neural tube defects surveillance: a national survey, Teratology, 61, 28, 10.1002/(SICI)1096-9926(200001/02)61:1/2<28::AID-TERA6>3.0.CO;2-N
Kennedy, 1988, Prenatally diagnosed neural tube defects: ultrasound, chromosome and autopsy of postnatal findings in 212 cases, Am J Med Genet, 77, 317, 10.1002/(SICI)1096-8628(19980526)77:4<317::AID-AJMG13>3.0.CO;2-L
Milunsky, 1998, Multivitamin/folic acid supplementation in the earliest weeks of pregnancy reduces the prevalence of neural tube defects, JAMA, 262, 2847, 10.1001/jama.1989.03430200091032
Joó, 2010, Spina bifida in the practice of genetic counselling, Magyar Nőorv L, 73, 287
Medical Research Council Vitamin Study Research Group, 1991, Prevention of neural tube defects: results of the Medical Research Council Vitamin Study, Lancet, 228, 131
Czeizel, 1992, Prevention of first occurence of neural tube defects by periconceptional vitamin supplementation, N Eng J Med, 327, 1832, 10.1056/NEJM199212243272602
Joó, 2005, Risk of recurrence in major central nervous system malformations between 1976 and 2005, Prenat Diagn, 27, 1028, 10.1002/pd.1827
Al-Gazali, 2001, Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect, Am J Med Genet, 103, 128, 10.1002/ajmg.1509
Locksmith, 1998, Preventing neural tube defects: the importance of periconceptional folic acid supplements, Obstet Gynecol, 91, 1027, 10.1016/S0029-7844(98)00060-X
McLone, 2003, The etiology of neural tube defects: the role of folic acid, Child's Nerv Syst, 19, 537, 10.1007/s00381-003-0793-2
Sun, 1999, Correlation of prenatal ultrasound diagnosis and pathologic findings in fetal anomalies, Pediatr Dev Pathol, 2, 131, 10.1007/s100249900101
