-
1
-
-
0027220023
-
Room for improvement? Detecting autosomal trisomies without serum screening
-
Abramsky L, Chapple J. 1993. Room for improvement? Detecting autosomal trisomies without serum screening. Public Health 107:349-354.
-
(1993)
Public Health
, vol.107
, pp. 349-354
-
-
Abramsky, L.1
Chapple, J.2
-
2
-
-
0035691962
-
Familial Down syndrome: Evidence supporting cytoplasmic inheritance
-
Arbuzova S, Cuckle H, Mueller R, Sehmi I. 2001. Familial Down syndrome: Evidence supporting cytoplasmic inheritance. Clin Genet 60:456-462.
-
(2001)
Clin Genet
, vol.60
, pp. 456-462
-
-
Arbuzova, S.1
Cuckle, H.2
Mueller, R.3
Sehmi, I.4
-
3
-
-
0027955660
-
Natural history of trisomy 18 and trisomy 13. I. Growth, physical assessment, medical histories, survival, and recurrence risk
-
Baty BJ, Blackburn BJ, Carey JC. 1994a. Natural history of trisomy 18 and trisomy 13. I. Growth, physical assessment, medical histories, survival, and recurrence risk. Am J Med Genet 49:175-188.
-
(1994)
Am J Med Genet
, vol.49
, pp. 175-188
-
-
Baty, B.J.1
Blackburn, B.J.2
Carey, J.C.3
-
4
-
-
0028156802
-
Natural history of trisomy 18 and trisomy 13. II. Psychomotor development
-
Baty BJ, Jorde LB, Blackburn BJ, Carey JC. 1994b. Natural history of trisomy 18 and trisomy 13. II. Psychomotor development. Am J Med Genet 49:189-194.
-
(1994)
Am J Med Genet
, vol.49
, pp. 189-194
-
-
Baty, B.J.1
Jorde, L.B.2
Blackburn, B.J.3
Carey, J.C.4
-
5
-
-
0036728092
-
Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers
-
Brewer CM, Holloway SH, Stone DH, Carothers AD, FitzPatrick DR. 2002. Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers. J Med Genet 39:e54.
-
(2002)
J Med Genet
, vol.39
-
-
Brewer, C.M.1
Holloway, S.H.2
Stone, D.H.3
Carothers, A.D.4
FitzPatrick, D.R.5
-
6
-
-
33646098622
-
Trisomy 18 and trisomy 13 syndromes
-
Cassidy SB, Allanson JE, editors, 2nd edition. New York: Wiley-Liss. p
-
Carey JC. 2005. Trisomy 18 and trisomy 13 syndromes. In: Cassidy SB, Allanson JE, editors. Management of Genetic Syndromes. 2nd edition. New York: Wiley-Liss. p 555-568.
-
(2005)
Management of Genetic Syndromes
, pp. 555-568
-
-
Carey, J.C.1
-
7
-
-
1542321066
-
Trisomy 13 mosaicism: Study of serial cytogenetic changes in a case from early pregnancy to infancy
-
Chen M, Yeh GP, Shih JC, Wang BT. 2004. Trisomy 13 mosaicism: Study of serial cytogenetic changes in a case from early pregnancy to infancy. Prenat Diagn 24:137-143.
-
(2004)
Prenat Diagn
, vol.24
, pp. 137-143
-
-
Chen, M.1
Yeh, G.P.2
Shih, J.C.3
Wang, B.T.4
-
9
-
-
0030919227
-
Three cases of trisomy 13 mosaicism and a review of the literature
-
Delatycki M, Gardner RJM. 1997. Three cases of trisomy 13 mosaicism and a review of the literature. Clin Genet 51:403-407.
-
(1997)
Clin Genet
, vol.51
, pp. 403-407
-
-
Delatycki, M.1
Gardner, R.J.M.2
-
10
-
-
5044235770
-
Patau syndrome with a long survival. A case report
-
Duarte AC, Menezes AI, Devens ES, Roth JM, Garcias GL, Martino-Roth MG. 2004. Patau syndrome with a long survival. A case report. Genet Mol Res 3:288-292.
-
(2004)
Genet Mol Res
, vol.3
, pp. 288-292
-
-
Duarte, A.C.1
Menezes, A.I.2
Devens, E.S.3
Roth, J.M.4
Garcias, G.L.5
Martino-Roth, M.G.6
-
11
-
-
0024413462
-
Tissue-specific 45,X0/47,XY, +13 mosaicism in an 18-year-old woman
-
Eiben B, Hansen S, Goebel R, Hammans W. 1989. Tissue-specific 45,X0/47,XY, +13 mosaicism in an 18-year-old woman. Hum Genet 82:391-392.
-
(1989)
Hum Genet
, vol.82
, pp. 391-392
-
-
Eiben, B.1
Hansen, S.2
Goebel, R.3
Hammans, W.4
-
12
-
-
0042427777
-
Reasons for trisomy 13 or 18 births despite the availability of prenatal diagnosis and pregnancy termination
-
Gessner BD. 2003. Reasons for trisomy 13 or 18 births despite the availability of prenatal diagnosis and pregnancy termination. Early Hum Dev 73:53-60.
-
(2003)
Early Hum Dev
, vol.73
, pp. 53-60
-
-
Gessner, B.D.1
-
13
-
-
0007918107
-
The nonrandomness of chromosomal abnormalities. Association of trisomy 18 and Down's syndrome
-
Hecht F, Bryant JS, Gruber D, Townes PL. 1964. The nonrandomness of chromosomal abnormalities. Association of trisomy 18 and Down's syndrome. New Engl J Med 271:1081-1086.
-
(1964)
New Engl J Med
, vol.271
, pp. 1081-1086
-
-
Hecht, F.1
Bryant, J.S.2
Gruber, D.3
Townes, P.L.4
-
14
-
-
0021679640
-
Origin of extra chromosome in Patau syndrome
-
Ishikiriyama S, Niikawa N. 1984. Origin of extra chromosome in Patau syndrome. Hum Genet 68:266-268.
-
(1984)
Hum Genet
, vol.68
, pp. 266-268
-
-
Ishikiriyama, S.1
Niikawa, N.2
-
15
-
-
0017235375
-
Trisomy 13 in a female over 5 years of age
-
Mankinen CB, Sears JW. 1976. Trisomy 13 in a female over 5 years of age. J Med Genet 13:157-161.
-
(1976)
J Med Genet
, vol.13
, pp. 157-161
-
-
Mankinen, C.B.1
Sears, J.W.2
-
16
-
-
0142073794
-
Trisomy 13 and trisomy 18 in a defined population: Epidemiological, genetic and prenatal observations
-
Parker MJ, Budd JL, Draper ES, Young ID. 2003. Trisomy 13 and trisomy 18 in a defined population: Epidemiological, genetic and prenatal observations. Prenat Diagn 23:856-860.
-
(2003)
Prenat Diagn
, vol.23
, pp. 856-860
-
-
Parker, M.J.1
Budd, J.L.2
Draper, E.S.3
Young, I.D.4
-
17
-
-
50549169392
-
Multiple congenital anomaly caused by an extra chromosome
-
Patau K, Smith DW, Therman E, Inhorn SL, Wagner HP. 1960. Multiple congenital anomaly caused by an extra chromosome. Lancet 1:790-793.
-
(1960)
Lancet
, vol.1
, pp. 790-793
-
-
Patau, K.1
Smith, D.W.2
Therman, E.3
Inhorn, S.L.4
Wagner, H.P.5
-
18
-
-
0037383509
-
Population-based analyses of mortality in trisomy 13 and trisomy 18
-
Rasmussen SA, Wong L-YC, Yang Q, May KM, Friedman JM. 2003. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics 111:777-784.
-
(2003)
Pediatrics
, vol.111
, pp. 777-784
-
-
Rasmussen, S.A.1
Wong, L.-Y.C.2
Yang, Q.3
May, K.M.4
Friedman, J.M.5
-
19
-
-
0019495470
-
Long survival in trisomy 13 syndrome: 21 cases including prolonged survival in two patients 11 and 19 years old
-
Redheendran R, Neu RL, Bannerman RM. 1981. Long survival in trisomy 13 syndrome: 21 cases including prolonged survival in two patients 11 and 19 years old. Am J Med Genet 8:167-172.
-
(1981)
Am J Med Genet
, vol.8
, pp. 167-172
-
-
Redheendran, R.1
Neu, R.L.2
Bannerman, R.M.3
-
21
-
-
0030047175
-
Molecular studies of translocations and trisomy involving chromosome 13
-
Robinson WP, Bernasconi F, Dutly F, Lefort G, Romain DR, Binkert F, Schinzel AA. 1996. Molecular studies of translocations and trisomy involving chromosome 13. Am J Med Genet 61:158-163.
-
(1996)
Am J Med Genet
, vol.61
, pp. 158-163
-
-
Robinson, W.P.1
Bernasconi, F.2
Dutly, F.3
Lefort, G.4
Romain, D.R.5
Binkert, F.6
Schinzel, A.A.7
-
22
-
-
0025372272
-
Trisomy 13 syndrome and neural tube defects
-
Rodriguez JI, Garcia M, Morales C, Morillo A, Delicado A. 1990. Trisomy 13 syndrome and neural tube defects. Am J Med Genet 36:513-516.
-
(1990)
Am J Med Genet
, vol.36
, pp. 513-516
-
-
Rodriguez, J.I.1
Garcia, M.2
Morales, C.3
Morillo, A.4
Delicado, A.5
-
24
-
-
0025341453
-
Trisomy 13 (Patau's syndrome): A rare case of survival into adulthood
-
Singh KST. 1990. Trisomy 13 (Patau's syndrome): A rare case of survival into adulthood. J Ment Defic Res 34:91-93.
-
(1990)
J Ment Defic Res
, vol.34
, pp. 91-93
-
-
Singh, K.S.T.1
-
25
-
-
0034073499
-
Screening for trisomy 13 by fetal nuchal transluceney and maternal serum free beta-hCG and PAPP-A at 10-14 weeks of gestation
-
Spencer K, Ong C, Skentou H, Liao AW, Nicolaides KH. 2000. Screening for trisomy 13 by fetal nuchal transluceney and maternal serum free beta-hCG and PAPP-A at 10-14 weeks of gestation. Prenat Diagn 20:411-416.
-
(2000)
Prenat Diagn
, vol.20
, pp. 411-416
-
-
Spencer, K.1
Ong, C.2
Skentou, H.3
Liao, A.W.4
Nicolaides, K.H.5
-
29
-
-
0027446938
-
Trisomy 13 (Patau syndrome) with an 11-year survival
-
Zoll B, Wolf J, Lensing-Hebben D, Pruggmayer M, Thorpe B. 1993. Trisomy 13 (Patau syndrome) with an 11-year survival. Clin Genet 43:46-50.
-
(1993)
Clin Genet
, vol.43
, pp. 46-50
-
-
Zoll, B.1
Wolf, J.2
Lensing-Hebben, D.3
Pruggmayer, M.4
Thorpe, B.5
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