Genetic counseling
Tài liệu tham khảo
McKusick, 1975
McKusick, 1973, Observations suggesting allelism of the achondroplasia and hypochondroplasia genes, J. Med. Genet., 10, 11, 10.1136/jmg.10.1.11
Konigsmark, 1969, Hereditary deafness in man, N. Engl. J. Med., 281, 774, 10.1056/NEJM196910022811407
Konigmark, 1969, Hereditary deafness in man, N. Engl. J. Med., 281, 827, 10.1056/NEJM196910092811506
Schappert-Kimmijser, 1969, The heredity of retinoblastoma, Ophthalmologica, 151, 197, 10.1159/000304891
Nielsen, 1968, Retinoblastoma among offspring of adult survivors in Denmark, Acta Ophthalmologica, 46, 736, 10.1111/j.1755-3768.1968.tb02871.x
Murphy, 1969, The application of Bayesian methods in genetic counselling, Hum. Hered., 19, 126, 10.1159/000152210
Emery, 1965, Carrier detection in sex-linked muscular dystrophy, J. Genet. Hum., 14, 318
Emery, 1968, Genetic counselling in lethal X-linked disorders, Acta Genet., 18, 534
Stevenson, 1970
Lubs, 1959, Familial male pseudohermaphroditism with labial testes and partial feminization: Endocrine studies and genetic aspects, J. Clin. Endocrinol., 19, 1110, 10.1210/jcem-19-9-1110
Federman, 1967, Disorders of Fetal Endocrinology: Male Pseudohermaphroditism
Milunsky, 1973
Emery, 1973
Mayo, 1970, The use of linkage in genetic counselling, Hum. Hered., 20, 473, 10.1159/000152348
Renwick, 1971, An analysis procedure illustrated on a triple linkage of use for prenatal diagnosis of myotonic dystrophy, J. Med. Genet., 8, 399, 10.1136/jmg.8.4.399
Boyer, 1965, Linkage between the X chromosome loci for glucose-6-phosphate dehydrogenase electrophoretic variation and hemophilia A, Am. J. Hum. Genet., 17, 320
McCurdy, 1971, Use of genetic linkage for the detection of female carriers of hemophilia, N. Engl. J. Med., 285, 218, 10.1056/NEJM197107222850409
Omenn, 1973, Prospects for radiographic intrauterine diagnosis—The syndrome of thrombocytopenia with absent radii, N. Engl. J. Med., 288, 777, 10.1056/NEJM197304122881508
Pashayan, 1971, Bilateral aplasia of the tibia, polydactyly and absent thumb in father and daughter, J. Bone Joint Surg [Br.], 53, 495, 10.1302/0301-620X.53B3.495
Mather, 1949
Nitowsky, 1971, Genetic counseling: General principles and clinical applications, Adv. Pediatr., 18, 13, 10.1016/S0065-3101(22)00543-6
Edwards, 1960, The stimulation of mendelism, Acta Genet., 10, 63
Falconer, 1965, The inheritance of liability to certain diseases estimated from the incidence among relatives, Ann. Hum. Genet., 29, 51, 10.1111/j.1469-1809.1965.tb00500.x
Morton, 1969
Grüneberg, 1952, Genetical studies on the skeleton of the mouse. IV. Quasicontinuous variation, J. Genet., 51, 95, 10.1007/BF02986708
Carter, 1973, Multifactorial genetic disease, 199
Carter, 1961, The inheritance of congenital pyloric stenosis, Br. Med. Bull., 17, 251, 10.1093/oxfordjournals.bmb.a069918
Carter, 1969, Genetics of common disorders, Br. Med. Bull., 25, 52, 10.1093/oxfordjournals.bmb.a070671
Carter, 1965, The inheritance of congenital malformations, Vol. IV, 59
Record, 1950, Congenital malformations of the central nervous system. III. Risk of malformation in sibs of malformed individuals, Br. J. Soc. Med., 4, 217
Williamson, 1965, Incidence and family aggregation of major congenital malformations of central nervous system, J. Med. Genet., 2, 161, 10.1136/jmg.2.3.161
MacMahon, 1953, Anencephalus, spina bifida and hydrocephalus. Incidence related to sex, age, race, and season of birth and incidence in siblings, Br. J. Prev. Soc. Med., 7, 211
Fogh-Andersen, 1942
Wolff, 1963, A genetic study of cleft lip and palate in Utah, Am. J. Hum. Genet., 15, 209
Metrakos, 1961, Clefts of the lip and palate in twins, including a discordant pair whose monozygosity was confirmed by skin transplants, Plast. Reconstr. Surg., 22, 109, 10.1097/00006534-195808000-00003
Witkop, 1973, Cleft Palate
Curtis, 1961, Congenital cleft lip and palate, Am. J. Dis. Child, 102, 853, 10.1001/archpedi.1961.02080010855007
Emery, 1969, Genetic counseling, Scot. Med. J., 14, 335, 10.1177/003693306901401001
Record, 1958, Environmental influence related to the aetiology of congenital dislocation of the hip, Br. J. Prev. Soc. Med., 12, 8
McKeown, 1952, Evidence of post-natal environmental influence in the aetiology of infantile pyloric stenosis, Arch. Dis. Chidl., 27, 386, 10.1136/adc.27.134.386
Book, 1948, A contribution to the genetics of congenital clubfoot, Hereditas, 34, 289, 10.1111/j.1601-5223.1948.tb02843.x
Brock, 1972, Alpha-fetoprotein in the antenatal diagnosis of anencephaly and spina bifida, Lancet, 1, 197, 10.1016/S0140-6736(72)91634-0
Milunsky, 1974, The value of alpha-fetoprotein in the prenatal diagnosis of neural tube defects, J. Pediatr., 84, 889, 10.1016/S0022-3476(74)80776-6
Hellman, 1970, Safety of diagnostic ultrasound in obstetrics, Lancet, 1, 1133, 10.1016/S0140-6736(70)91212-2
Woodward, 1970, How safe is diagnostic sonar?, Br. J. Radiol., 43, 719, 10.1259/0007-1285-43-514-719
Taylor, 1967, Clinical use of ultrasound in obstetrics and gynecology, Am. J. Obstet Gynecol., 99, 671, 10.1016/0002-9378(67)90415-2
Donald, 1969, Sonar as a method of studying prenatal development, J. Pediatr., 75, 326, 10.1016/S0022-3476(69)80408-7
Campbell, 1969, The prediction of fetal maturity by ultrasonic measurement of the biparietal diameter, J. Obstet. Gynaecol. Br. Commonw., 76, 603, 10.1111/j.1471-0528.1969.tb06146.x
Martin, 1973, Diagnostic ultrasound in obstetrics and gynecology: Experience on a large clinical service, Obstet. Gynecol., 41, 379
Fraser, 1970, The genetics of cleft lip and cleft palate, Am. J. Hum. Genet., 22, 336
Lowry, 1970, Sex-linked cleft palate in a British Columbia Indian family, Pediatrics, 46, 123, 10.1542/peds.46.1.123
Weinstein, 1966, Sex-linked cleft palate, J. Med. Genet., 3, 17, 10.1136/jmg.3.1.17
Van der Woude, 1954, Fistula labii inferioris congenita and its association with cleft lip and palate, Am. J. Hum. Genet., 6, 244
Carter, 1964, Genetic and environmental factors in the etiology of congenital dislocation of the hip, Clin. Orthop., 33, 119, 10.1097/00003086-196400330-00010
Carter, 1964, Persistent joint laxity and congenital dislocation of the hip, J. Bone Joint Surg. [Br.], 46, 40, 10.1302/0301-620X.46B1.40
Bornfors, 1964, Hereditary aspects of hip dysplasia in German shepherd dogs, J. Am. Vet. Med. Assoc., 45, 15
Nora, 1968, Multifactorial inheritance hypothesis for the etiology of congenital heart diseases, Circulation, 38, 604, 10.1161/01.CIR.38.3.604
Tjio, 1956, The chromosome number of man, Hereditas, 42, 1, 10.1111/j.1601-5223.1956.tb03010.x
Wilson, 1973, Genetic Counseling in Pediatric Surgery, 70
Sergovich, 1969, Chromosome aberrations in 2159 consecutive newborn babies, N. Engl. J. Med., 280, 851, 10.1056/NEJM196904172801602
Walzer, 1969, A chromosome survey of 2,400 normal newborn infants, J. Pediatr., 74, 438, 10.1016/S0022-3476(69)80202-7
Lubs, 1970, Applications of Quantitative Karyotypy to Chromosome Variation in 4400 Consecutive Newborns, 119
Hamerton, 1972, Chromosome studies in a neonatal population, Can. Med. Assoc. J., 106, 776
Jacobs, 1974, A cytogenetic survey of 11,680 newborn infants, Ann. Hum. Genet., 37, 359, 10.1111/j.1469-1809.1974.tb01843.x
1966, 5, 765
Carr, 1965, Chromosome studies in spontaneous abortions, Obstet. Gynecol., 26, 308
Collmann, 1962, A survey of mongoloid births in Victoria, Australia. 1942–1957, Am. J. Public Health, 52, 813, 10.2105/AJPH.52.5.813
Wingate, 1968, Anatomic studies on mid trimester abortions, Am. J. Obstet. Gynecol., 102, 901, 10.1016/0002-9378(68)90520-6
Stein, 1973, Screening programme for prevention of Down's syndrome, Lancet, 1, 305, 10.1016/S0140-6736(73)91551-1
Goodman, 1962, Prevalence of imbecility and idiocy among children, Br. Med. J., 1, 216, 10.1136/bmj.1.5273.216
Davie, 1972
World, 1969, Genetic Counselling
Carter, 1961, Risk of parents who have had one child with Down's syndrome (mongolism) having another child similarly affected, Lancet, 2, 785, 10.1016/S0140-6736(61)91085-6
Hamerton, 1961, Chromosome studies in detection of parents with high risk of second child with Down's syndrome, Lancet, 2, 788, 10.1016/S0140-6736(61)91086-8
Stene, 1970, Detection of higher recurrence risk for age-depedent chromosome abnormalities with an application to trisomy-G (Down's syndrome), Hum. Hered., 20, 112, 10.1159/000152301
Peterson, 1965, The role of chromosome translocation risk in the recurrence risk of Down's syndrome, Pediatrics, 35, 463, 10.1542/peds.35.3.463
Wright, 1967, The frequency of trisomy and translocation in Down's syndrome, J. Pediatr., 70, 420, 10.1016/S0022-3476(67)80140-9
Lejeune, 1964, The 21-trisomy: Current stage of chromosome research, Vol. III, 144
Hamerton, 1970, Robertsonian translocations; evidence on segregation from family studies, 63
Mikkelsen, 1971, Down's syndrome: Current stage of cytogenetics research, Humangenetik, 12, 1, 10.1007/BF00291028
Hamerton, 1968, Robertsonian translocation in man: Evidence for prezygotic selection, Cytogenetics, 7, 260, 10.1159/000129990
Stene, 1970, Statistical inference on segregation ratios for D/G-translocations, when the families are ascertained in different ways, Ann. Hum. Genet., 34, 93, 10.1111/j.1469-1809.1970.tb00224.x
Stene, 1970, A statistical segregation analysis of (21q22q) translocations, Hum. Hered., 20, 465, 10.1159/000152347
Milunsky, 1972, Amniocentesis for prenatal genetic studies, Obstet. Gynecol., 40, 104, 10.1097/00006250-197207000-00018
Nadler, 1970, Role of amniocentesis in the intrauterine detection of genetic disorders, N. Engl. J. Med., 282, 596, 10.1056/NEJM197003122821105
Caspersson, 1970, Analysis of human metaphase chromosome set by aid of DNA-binding fluorescent agents, Exp. Cell. Res., 62, 490, 10.1016/0014-4827(70)90586-0
1972, Volume 8
Jones, 1972, A New Era for Cytogenetics
German, 1973, Oncogenic Implications of Chromosomal Instability, 39
McKusick, 1969
Yesley, 1966, Methods of Coding and Filing Family Records, 1373
Schact, 1973, Taking a Family History, 3
Fraser, 1974, Genetic counselings, Am. J. Hum. Genet., 26, 636
Carter, 1971, Genetic clinic: A follow-up, Lancet, 1, 281, 10.1016/S0140-6736(71)91016-6
Leonard, 1972, Genetic counseling: A consumer's view, N. Engl. J. Med., 287, 433, 10.1056/NEJM197208312870904
