-
1
-
-
70349660072
-
The 50th anniversary of the discovery of trisomy 21: The past, present, and future of research and treatment of Down syndrome
-
Megarbane A., Ravel A., Mircher C., et al. The 50th anniversary of the discovery of trisomy 21: The past, present, and future of research and treatment of Down syndrome. Genet Med 2009, 11(9):611-616.
-
(2009)
Genet Med
, vol.11
, Issue.9
, pp. 611-616
-
-
Megarbane, A.1
Ravel, A.2
Mircher, C.3
-
2
-
-
0034682403
-
Chromosome 21 mapping and sequencing consortium
-
Hattori M., Fujiyama A., Taylor T.D., et al. Chromosome 21 mapping and sequencing consortium. Nature 2000, 405:311-319.
-
(2000)
Nature
, vol.405
, pp. 311-319
-
-
Hattori, M.1
Fujiyama, A.2
Taylor, T.D.3
-
3
-
-
78149486803
-
Down syndrome: from understanding the neurobiology to therapy
-
Gardiner K., Herault Y., Lott I.T., et al. Down syndrome: from understanding the neurobiology to therapy. J Neuroscience 2010, 30(45):14943-14945.
-
(2010)
J Neuroscience
, vol.30
, Issue.45
, pp. 14943-14945
-
-
Gardiner, K.1
Herault, Y.2
Lott, I.T.3
-
4
-
-
5044234361
-
Chromosome 21 and Down syndrome: from genomics to pathophysiology
-
Antonarakis S.E., Lyle R., Dermitzakis E.T., et al. Chromosome 21 and Down syndrome: from genomics to pathophysiology. Nat Rev Genet 2004, 5:725-738.
-
(2004)
Nat Rev Genet
, vol.5
, pp. 725-738
-
-
Antonarakis, S.E.1
Lyle, R.2
Dermitzakis, E.T.3
-
5
-
-
63149117340
-
Down syndrome-recent progress and future prospects
-
Wiseman F.K., Alford K.A., Tybulewicz V.L., et al. Down syndrome-recent progress and future prospects. Hum Mol Genet 2009, 18(R1):R75-R83.
-
(2009)
Hum Mol Genet
, vol.18
, Issue.R1
-
-
Wiseman, F.K.1
Alford, K.A.2
Tybulewicz, V.L.3
-
6
-
-
33845548364
-
Incidence of Down Syndrome in Dubai, UAE
-
Murthy S.K., Malhotra A.K., Mani S., et al. Incidence of Down Syndrome in Dubai, UAE. Med Princ Pract 2007, 16:25-28.
-
(2007)
Med Princ Pract
, vol.16
, pp. 25-28
-
-
Murthy, S.K.1
Malhotra, A.K.2
Mani, S.3
-
7
-
-
33751190719
-
National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001
-
Canfield M.A., Honein M.A., Yuskiv N., et al. National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001. Birth Defects Res A Clin Mol Teratol 2006, 76:747-756.
-
(2006)
Birth Defects Res A Clin Mol Teratol
, vol.76
, pp. 747-756
-
-
Canfield, M.A.1
Honein, M.A.2
Yuskiv, N.3
-
8
-
-
0037433652
-
Down's syndrome
-
Roizen N.J., Patterson D. Down's syndrome. Lancet 2003, 361:1281-1289.
-
(2003)
Lancet
, vol.361
, pp. 1281-1289
-
-
Roizen, N.J.1
Patterson, D.2
-
9
-
-
0036432819
-
The burden of genetic disorders in India and a framework for community control
-
Verma I.C., Bijarnia S. The burden of genetic disorders in India and a framework for community control. Community Genetics 2002, 5(3):192-196.
-
(2002)
Community Genetics
, vol.5
, Issue.3
, pp. 192-196
-
-
Verma, I.C.1
Bijarnia, S.2
-
10
-
-
0023987240
-
Maternal age-specific rates for Down syndrome: changes over time
-
Baird P.A., Sadovnick A.D. Maternal age-specific rates for Down syndrome: changes over time. Am J Med Genet 1988, 29:917-927.
-
(1988)
Am J Med Genet
, vol.29
, pp. 917-927
-
-
Baird, P.A.1
Sadovnick, A.D.2
-
11
-
-
84862659283
-
-
Directorate of Economics and Statistics, & Office of the Chief Registrar (Births and Deaths), Civil Lines, Vikas Bhavan II, New Delhi
-
Annual Report on Registration of Births & Deaths in Delhi 2010, Directorate of Economics and Statistics, & Office of the Chief Registrar (Births and Deaths), Civil Lines, Vikas Bhavan II, New Delhi.
-
(2010)
Annual Report on Registration of Births & Deaths in Delhi
-
-
-
12
-
-
1342281723
-
Down syndrome: clinical profile from India
-
Kava M.P., Tullu M.S., Muranjan M.N., et al. Down syndrome: clinical profile from India. Arch Med Res 2004, 35(1):31-35.
-
(2004)
Arch Med Res
, vol.35
, Issue.1
, pp. 31-35
-
-
Kava, M.P.1
Tullu, M.S.2
Muranjan, M.N.3
-
13
-
-
0019521072
-
Developmental milestones of Down's syndrome patients in north India
-
Menon P.S., Sachdev H.P., Verma I.C., et al. Developmental milestones of Down's syndrome patients in north India. Indian J Med Res 1981, 73:369-373.
-
(1981)
Indian J Med Res
, vol.73
, pp. 369-373
-
-
Menon, P.S.1
Sachdev, H.P.2
Verma, I.C.3
-
14
-
-
79551650511
-
Correlation between physical anomaly and behavioral abnormalities in Down syndrome
-
Bhattacharyya R., Sanyal D., Roy K., et al. Correlation between physical anomaly and behavioral abnormalities in Down syndrome. J Pediatr Neurosci 2010, 5(2):105-110.
-
(2010)
J Pediatr Neurosci
, vol.5
, Issue.2
, pp. 105-110
-
-
Bhattacharyya, R.1
Sanyal, D.2
Roy, K.3
-
15
-
-
0026927609
-
Congenital heart disease in Down syndrome: an echocardiographic study
-
Bhatia S., Verma I.C., Shrivastava S. Congenital heart disease in Down syndrome: an echocardiographic study. Indian Pediatrics 1992, 29(9):1113-1116.
-
(1992)
Indian Pediatrics
, vol.29
, Issue.9
, pp. 1113-1116
-
-
Bhatia, S.1
Verma, I.C.2
Shrivastava, S.3
-
16
-
-
65349104004
-
Unusual thyroid constellation in Down syndrome: congenital hypothyroidism, Graves' disease, and hemiagenesis in the same child
-
Nebesio T.D., Eugster E.A. Unusual thyroid constellation in Down syndrome: congenital hypothyroidism, Graves' disease, and hemiagenesis in the same child. J Pediatr Endocrinol Metab 2009, 22(3):263-268.
-
(2009)
J Pediatr Endocrinol Metab
, vol.22
, Issue.3
, pp. 263-268
-
-
Nebesio, T.D.1
Eugster, E.A.2
-
17
-
-
78650545422
-
Graves' disease in a Down's syndrome patient
-
Bhat M.H., Saba S., Ahmed I., et al. Graves' disease in a Down's syndrome patient. J Pediatr Endocrinol Metab 2010, 23(11):1181-1183.
-
(2010)
J Pediatr Endocrinol Metab
, vol.23
, Issue.11
, pp. 1181-1183
-
-
Bhat, M.H.1
Saba, S.2
Ahmed, I.3
-
18
-
-
24644480521
-
Hematological disorders in Down syndrome: ten-year experience at a tertiary care centre in North India
-
507-2
-
Awasthi A., Das R., Varma N., et al. Hematological disorders in Down syndrome: ten-year experience at a tertiary care centre in North India. Pediatr Hematol Oncol 2005, 22(6). 507-2.
-
(2005)
Pediatr Hematol Oncol
, vol.22
, Issue.6
-
-
Awasthi, A.1
Das, R.2
Varma, N.3
-
19
-
-
79955474993
-
Transient aplastic anemia in Down's syndrome-a rare association
-
Gathwala G., Dalal P., Dalal J.S., et al. Transient aplastic anemia in Down's syndrome-a rare association. Eur J Med Genet 2011, 54(3):341-342.
-
(2011)
Eur J Med Genet
, vol.54
, Issue.3
, pp. 341-342
-
-
Gathwala, G.1
Dalal, P.2
Dalal, J.S.3
-
20
-
-
84855455032
-
Prolonged postoperative desaturation in a child with Down syndrome and atrial septal defect
-
Sinha R., Thangaswamy C.R., Muthiah T., et al. Prolonged postoperative desaturation in a child with Down syndrome and atrial septal defect. Indian J Anaesth 2011, 55(6):608-610.
-
(2011)
Indian J Anaesth
, vol.55
, Issue.6
, pp. 608-610
-
-
Sinha, R.1
Thangaswamy, C.R.2
Muthiah, T.3
-
22
-
-
79959696116
-
Immune evaluation and vaccine responses in Down syndrome: evidence of immunodeficiency?
-
Joshi A.Y., Abraham R.S., Snyder M.R., et al. Immune evaluation and vaccine responses in Down syndrome: evidence of immunodeficiency?. Vaccine 2011, 29(31):5040-5046.
-
(2011)
Vaccine
, vol.29
, Issue.31
, pp. 5040-5046
-
-
Joshi, A.Y.1
Abraham, R.S.2
Snyder, M.R.3
-
23
-
-
0019348489
-
Physical growth of children with Down syndrome in India
-
Sachdev H.S., Menon P.S., Verma I.C., et al. Physical growth of children with Down syndrome in India. Indian Journal Pediatr 1981, 48(390):85-89.
-
(1981)
Indian Journal Pediatr
, vol.48
, Issue.390
, pp. 85-89
-
-
Sachdev, H.S.1
Menon, P.S.2
Verma, I.C.3
-
24
-
-
0344837278
-
The changing survival profile of people with Down's syndrome: implications for genetic counselling
-
Glasson N., Sullivan E.J., Hussain S.G., et al. The changing survival profile of people with Down's syndrome: implications for genetic counselling. Clinical Genet 2002, 62(5):390-393.
-
(2002)
Clinical Genet
, vol.62
, Issue.5
, pp. 390-393
-
-
Glasson, N.1
Sullivan, E.J.2
Hussain, S.G.3
-
25
-
-
33751198729
-
Fertility in men with Down syndrome: a case report
-
1765,e1-3
-
Pradhan M., Dalal A., Khan F., et al. Fertility in men with Down syndrome: a case report. Fertil Steril 2006, 86(6). 1765,e1-3.
-
(2006)
Fertil Steril
, vol.86
, Issue.6
-
-
Pradhan, M.1
Dalal, A.2
Khan, F.3
-
27
-
-
0029917626
-
Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993. National Down Syndrome Cytogenetic Register and the Association of Clinical Cytogeneticists
-
Mutton D., Alberman E., Hook E.B. Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993. National Down Syndrome Cytogenetic Register and the Association of Clinical Cytogeneticists. J Med Genet 1996, 33:387-394.
-
(1996)
J Med Genet
, vol.33
, pp. 387-394
-
-
Mutton, D.1
Alberman, E.2
Hook, E.B.3
-
28
-
-
0033921367
-
Cytogenetic studies of 1001 Down syndrome cases from Andhra Pradesh, India
-
Jyothy A., Kumar K.S., Rao G.N., et al. Cytogenetic studies of 1001 Down syndrome cases from Andhra Pradesh, India. Indian J Med Res 2000, 111:133-137.
-
(2000)
Indian J Med Res
, vol.111
, pp. 133-137
-
-
Jyothy, A.1
Kumar, K.S.2
Rao, G.N.3
-
29
-
-
16544384302
-
Cytogenetic profile of Down syndrome in Alexandria, Egypt
-
Mokhtar M.M., Abdel-Aziz A.M., Nazmy N.A., et al. Cytogenetic profile of Down syndrome in Alexandria, Egypt. Eastern Med Health J 2003, 9:37-44.
-
(2003)
Eastern Med Health J
, vol.9
, pp. 37-44
-
-
Mokhtar, M.M.1
Abdel-Aziz, A.M.2
Nazmy, N.A.3
-
30
-
-
9644260618
-
Mosaic Down's syndrome prevalence in a complete population study
-
Devlin L., Morrison P.J. Mosaic Down's syndrome prevalence in a complete population study. Arch Dis Child 2004, 89:1177-1178.
-
(2004)
Arch Dis Child
, vol.89
, pp. 1177-1178
-
-
Devlin, L.1
Morrison, P.J.2
-
31
-
-
23644457194
-
Down syndrome: clinical and cytogenetic analysis
-
Ahmed I., Ghafoor T., Samore N.A., et al. Down syndrome: clinical and cytogenetic analysis. J Coll Physicians Surg Pak 2005, 15(7):426-429.
-
(2005)
J Coll Physicians Surg Pak
, vol.15
, Issue.7
, pp. 426-429
-
-
Ahmed, I.1
Ghafoor, T.2
Samore, N.A.3
-
32
-
-
35648999970
-
Cytogenetic analysis of Down syndrome in Gujarat
-
Sheth F., Rao S., Desai M., et al. Cytogenetic analysis of Down syndrome in Gujarat. Indian Pediatr 2007, 44:774-777.
-
(2007)
Indian Pediatr
, vol.44
, pp. 774-777
-
-
Sheth, F.1
Rao, S.2
Desai, M.3
-
33
-
-
84872749320
-
-
Acessed May 20, 2012
-
Acessed May 20, 2012. http://omim.org/entry/190685.
-
-
-
-
34
-
-
77955868547
-
Cytogenetic analysis of 1572 cases of Down syndrome: a report of double aneuploidy and novel findings 47,XY, t(14;21)(q13;q22.3)mat,+21 and 45,XX,t(14;21) in an Indian population
-
Mandava S., Koppaka N., Bhatia V., et al. Cytogenetic analysis of 1572 cases of Down syndrome: a report of double aneuploidy and novel findings 47,XY, t(14;21)(q13;q22.3)mat,+21 and 45,XX,t(14;21) in an Indian population. Genet Test Mol Biomarkers 2010, 14(4):499-504.
-
(2010)
Genet Test Mol Biomarkers
, vol.14
, Issue.4
, pp. 499-504
-
-
Mandava, S.1
Koppaka, N.2
Bhatia, V.3
-
35
-
-
0025765858
-
Maternal transmission of translocation 2;21 associated with Down's syndrome
-
Kotwaliwale S.V., Dicholkar V.V., Motashaw N.D. Maternal transmission of translocation 2;21 associated with Down's syndrome. Journal Med Genet 1991, 28(6):415-416.
-
(1991)
Journal Med Genet
, vol.28
, Issue.6
, pp. 415-416
-
-
Kotwaliwale, S.V.1
Dicholkar, V.V.2
Motashaw, N.D.3
-
36
-
-
58549100511
-
Double trisomy with 48, XXX+21 karyotype in a Down's syndrome child from Jammu and Kashmir, India
-
Balwan W.K., Kumar P., Raina T.R., et al. Double trisomy with 48, XXX+21 karyotype in a Down's syndrome child from Jammu and Kashmir, India. J Genet 2008, 87(3):257-259.
-
(2008)
J Genet
, vol.87
, Issue.3
, pp. 257-259
-
-
Balwan, W.K.1
Kumar, P.2
Raina, T.R.3
-
37
-
-
0016779448
-
Down syndrome: maternal age in 615 cases in india and its implications in genetic counseling
-
Verma I.C., Gupta A.K., Devanagondi B.S. Down syndrome: maternal age in 615 cases in india and its implications in genetic counseling. Indian pediatrics 1975, 12(12):1239-1245.
-
(1975)
Indian pediatrics
, vol.12
, Issue.12
, pp. 1239-1245
-
-
Verma, I.C.1
Gupta, A.K.2
Devanagondi, B.S.3
-
38
-
-
0023789656
-
High efficiency in the attribution of parental origin of nondisjunction in trisomy 21 by both cytogenetic and molecular polymorphisms
-
Dagna-Bricarelli F., Pierluigi M., Perroni L., et al. High efficiency in the attribution of parental origin of nondisjunction in trisomy 21 by both cytogenetic and molecular polymorphisms. Hum Genet 1988, 79:124-127.
-
(1988)
Hum Genet
, vol.79
, pp. 124-127
-
-
Dagna-Bricarelli, F.1
Pierluigi, M.2
Perroni, L.3
-
39
-
-
0029187821
-
The origin of numerical chromosomal abnormalities
-
Jacobs P.A., Hassold T.J. The origin of numerical chromosomal abnormalities. In Adv Hum Genet 1995, 33:101-133.
-
(1995)
In Adv Hum Genet
, vol.33
, pp. 101-133
-
-
Jacobs, P.A.1
Hassold, T.J.2
-
40
-
-
84862662023
-
Down syndrome in India
-
Kluwer Academic Publishers, Dordrecht, D. Kumar (Ed.)
-
Raman R. Down syndrome in India. Genetic disorders of the Indian subcontinent 2004, 171-184. Kluwer Academic Publishers, Dordrecht. D. Kumar (Ed.).
-
(2004)
Genetic disorders of the Indian subcontinent
, pp. 171-184
-
-
Raman, R.1
-
41
-
-
77958485580
-
Chromosome 21 non-disjunction and Down syndrome birth in an Indian cohort: analysis of incidence and aetiology from family linkage data
-
Ghosh S., Bhaumik P., Ghosh P., et al. Chromosome 21 non-disjunction and Down syndrome birth in an Indian cohort: analysis of incidence and aetiology from family linkage data. Genet Res 2010, 92(3):189-197.
-
(2010)
Genet Res
, vol.92
, Issue.3
, pp. 189-197
-
-
Ghosh, S.1
Bhaumik, P.2
Ghosh, P.3
-
42
-
-
32044452864
-
Influence of advanced age of maternal grandmothers on Down syndrome
-
Malini S.S., Ramachandra N.B. Influence of advanced age of maternal grandmothers on Down syndrome. BMC Med Genet 2006, 7:4.
-
(2006)
BMC Med Genet
, vol.7
, pp. 4
-
-
Malini, S.S.1
Ramachandra, N.B.2
-
43
-
-
0028879783
-
Impaired chromosome segregation in plant anaphase after moderate hypomethylation of DNA
-
Leyton C., Mergudich D., de la Torre D., et al. Impaired chromosome segregation in plant anaphase after moderate hypomethylation of DNA. Cell Prolif 1995, 28:481-496.
-
(1995)
Cell Prolif
, vol.28
, pp. 481-496
-
-
Leyton, C.1
Mergudich, D.2
de la Torre, D.3
-
44
-
-
0032845227
-
Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase (MTHFR) gene may be maternal risk factors for Down syndrome
-
James S.J., Pogribna M., Pogribny I.P., et al. Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase (MTHFR) gene may be maternal risk factors for Down syndrome. Am J Clin Nutr 1999, 70:495-501.
-
(1999)
Am J Clin Nutr
, vol.70
, pp. 495-501
-
-
James, S.J.1
Pogribna, M.2
Pogribny, I.P.3
-
45
-
-
0033846999
-
Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome
-
Hobbs C.A., Sherman S.L., Yi P., et al. Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. Am J Hum Genet 2000, 67:623-630.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 623-630
-
-
Hobbs, C.A.1
Sherman, S.L.2
Yi, P.3
-
46
-
-
0004481882
-
A common mutation in the methylenetetrahydrofolate reductase gene is not a risk factor for Down syndrome
-
Petersen M., Grigoriadou M., Mikkelsen M. A common mutation in the methylenetetrahydrofolate reductase gene is not a risk factor for Down syndrome. Am J Hum Genet 2000, 67(Suppl 2):141.
-
(2000)
Am J Hum Genet
, vol.67
, Issue.SUPPL. 2
, pp. 141
-
-
Petersen, M.1
Grigoriadou, M.2
Mikkelsen, M.3
-
47
-
-
70249132588
-
MTHFR Gene variants C677T, A1298C and association with Down syndrome: a Case-control study from South India
-
Cyril C., Rai P., Chandra N., et al. MTHFR Gene variants C677T, A1298C and association with Down syndrome: a Case-control study from South India. Indian J Hum Genet 2009, 15(2):60-64.
-
(2009)
Indian J Hum Genet
, vol.15
, Issue.2
, pp. 60-64
-
-
Cyril, C.1
Rai, P.2
Chandra, N.3
-
48
-
-
58149326891
-
Prevalence of MTHFR C677T polymorphism in north Indian mothers having babies with Trisomy 21 Down syndrome. Down's syndrome, research and practice
-
Kohli U., Arora S., Kabra M., et al. Prevalence of MTHFR C677T polymorphism in north Indian mothers having babies with Trisomy 21 Down syndrome. Down's syndrome, research and practice. Journal of the Sarah Duffen Centre/University of Portsmouth 2008, 12(2):133-137.
-
(2008)
Journal of the Sarah Duffen Centre/University of Portsmouth
, vol.12
, Issue.2
, pp. 133-137
-
-
Kohli, U.1
Arora, S.2
Kabra, M.3
-
49
-
-
80053937529
-
Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: a report from the National Down Syndrome Project
-
Bean L.J., Allen E.G., Tinker S.W., et al. Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: a report from the National Down Syndrome Project. Birth defects research Part A, Clinical and Molecular Teratology 2011, 91(10):885-893.
-
(2011)
Birth defects research Part A, Clinical and Molecular Teratology
, vol.91
, Issue.10
, pp. 885-893
-
-
Bean, L.J.1
Allen, E.G.2
Tinker, S.W.3
-
51
-
-
80051515425
-
Committee on Genetics. Health supervision for children with Down syndrome
-
Bull M.J. Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics 2011, 128(2):393-406.
-
(2011)
Pediatrics
, vol.128
, Issue.2
, pp. 393-406
-
-
Bull, M.J.1
-
52
-
-
78649316663
-
Clinical practice. The care of children with Down syndrome
-
Weijerman M.E., de Winter J.P. Clinical practice. The care of children with Down syndrome. Eur J Pediatr 2010, 169(12):1445-1452.
-
(2010)
Eur J Pediatr
, vol.169
, Issue.12
, pp. 1445-1452
-
-
Weijerman, M.E.1
de Winter, J.P.2
-
54
-
-
73849092216
-
Professional Practice Guidelines Committee. Screening for fetal aneuploidy and neural tube defects
-
Driscoll D.A., Gross S.J. Professional Practice Guidelines Committee. Screening for fetal aneuploidy and neural tube defects. Genet Med 2009, 11(11):818-821.
-
(2009)
Genet Med
, vol.11
, Issue.11
, pp. 818-821
-
-
Driscoll, D.A.1
Gross, S.J.2
-
55
-
-
27744477773
-
First-trimester or second-trimester screening, or both, for Down's syndrome for the first trimester and second trimester evaluation of risk (FASTER) research consortium
-
Malone F.D., Canick J.A., Ball R.H., et al. First-trimester or second-trimester screening, or both, for Down's syndrome for the first trimester and second trimester evaluation of risk (FASTER) research consortium. N Engl J Med 2005, 353:2001-2011.
-
(2005)
N Engl J Med
, vol.353
, pp. 2001-2011
-
-
Malone, F.D.1
Canick, J.A.2
Ball, R.H.3
-
56
-
-
0029181608
-
The implementation of first-trimester scanning at 10-13 weeks' gestation and the measurement of fetal nuchal translucency thickness in two maternity units
-
Pandya P.P., Goldberg H., Walton B., et al. The implementation of first-trimester scanning at 10-13 weeks' gestation and the measurement of fetal nuchal translucency thickness in two maternity units. Ultrasound Obstet Gynecol 1995, 5(1):20-25.
-
(1995)
Ultrasound Obstet Gynecol
, vol.5
, Issue.1
, pp. 20-25
-
-
Pandya, P.P.1
Goldberg, H.2
Walton, B.3
-
57
-
-
80855147908
-
First-trimester screening for trisomy 21 using alpha-fetoprotein
-
Bredaki F.E., Wright D., Matos P., et al. First-trimester screening for trisomy 21 using alpha-fetoprotein. Fetal Diagn Ther 2011, 30:215-218.
-
(2011)
Fetal Diagn Ther
, vol.30
, pp. 215-218
-
-
Bredaki, F.E.1
Wright, D.2
Matos, P.3
-
58
-
-
78650803485
-
Screening for fetal aneuploides at 11-13 weeks
-
Nicolaides K.H. Screening for fetal aneuploides at 11-13 weeks. Prenat Diag 2011, 31:7-15.
-
(2011)
Prenat Diag
, vol.31
, pp. 7-15
-
-
Nicolaides, K.H.1
-
59
-
-
0035904786
-
Absence of nasal bone infetuses with trisomy 21 at 11-14 weeks of gestation: an observational study
-
Cicero S., Curcio P., Papageorghiou A., et al. Absence of nasal bone infetuses with trisomy 21 at 11-14 weeks of gestation: an observational study. Lancet 2001, 358:1665-1667.
-
(2001)
Lancet
, vol.358
, pp. 1665-1667
-
-
Cicero, S.1
Curcio, P.2
Papageorghiou, A.3
-
60
-
-
79954998794
-
Turning the pyramis of prenatal care
-
Nicolaides K.H. Turning the pyramis of prenatal care. Fetal Diagn Ther 2011, 29:183-196.
-
(2011)
Fetal Diagn Ther
, vol.29
, pp. 183-196
-
-
Nicolaides, K.H.1
-
61
-
-
61849147473
-
Fetal nasal bone in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation
-
Kagan K.O., Cicero S., Staboulidou I., et al. Fetal nasal bone in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation. Ultrasound Obstet Gynecol 2009, 33:259-264.
-
(2009)
Ultrasound Obstet Gynecol
, vol.33
, pp. 259-264
-
-
Kagan, K.O.1
Cicero, S.2
Staboulidou, I.3
-
62
-
-
66249094907
-
Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation
-
Maiz N., Valencia C., Kagan K.O., et al. Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation. Ultrasound Obstet Gynecol 2009, 33:512-517.
-
(2009)
Ultrasound Obstet Gynecol
, vol.33
, pp. 512-517
-
-
Maiz, N.1
Valencia, C.2
Kagan, K.O.3
-
63
-
-
58149523129
-
Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11 + 0-13 + 6 weeks of gestation
-
Kagan K.O., Valencia C., Livanos P., et al. Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11 + 0-13 + 6 weeks of gestation. Ultrasound Obstet Gynecol 2009, 33:18-22.
-
(2009)
Ultrasound Obstet Gynecol
, vol.33
, pp. 18-22
-
-
Kagan, K.O.1
Valencia, C.2
Livanos, P.3
-
64
-
-
80055083178
-
Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant women
-
Guanciali-Franchi P., Iezzi I., Palka C., et al. Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant women. Prenat Diagn 2011, 31(11):1077-1081.
-
(2011)
Prenat Diagn
, vol.31
, Issue.11
, pp. 1077-1081
-
-
Guanciali-Franchi, P.1
Iezzi, I.2
Palka, C.3
-
65
-
-
0027057919
-
Sonographic scoring index for prenatal detection of chromosomal abnormalities
-
Benacerraf B.R., Neuberg D., Bromley B., et al. Sonographic scoring index for prenatal detection of chromosomal abnormalities. J Ultrasound Med 1992, 11:449-458.
-
(1992)
J Ultrasound Med
, vol.11
, pp. 449-458
-
-
Benacerraf, B.R.1
Neuberg, D.2
Bromley, B.3
-
66
-
-
0343353640
-
Genetic sonogram: computerized assessment of risk for Down syndrome based on obstetric US findings during the second trimester (abstr)
-
Nyberg D.A., Luthy D.A., Williams M.A., et al. Genetic sonogram: computerized assessment of risk for Down syndrome based on obstetric US findings during the second trimester (abstr). Radiology 1996, 201(P):160.
-
(1996)
Radiology
, vol.201
, Issue.P
, pp. 160
-
-
Nyberg, D.A.1
Luthy, D.A.2
Williams, M.A.3
-
67
-
-
0034942947
-
Ultrasonographic femur-tibial length ratio: a marker of Down syndrome from the late second trimester
-
Gupta R., Thomas R.D., Sreenivas V., et al. Ultrasonographic femur-tibial length ratio: a marker of Down syndrome from the late second trimester. Am J Perinatol 2001, 18(4):217-224.
-
(2001)
Am J Perinatol
, vol.18
, Issue.4
, pp. 217-224
-
-
Gupta, R.1
Thomas, R.D.2
Sreenivas, V.3
-
68
-
-
0030001568
-
Karyotyping of at risk fetuses by cordocentesis in advanced gestation
-
Kabra M., Saxena R., Chinnappan D., et al. Karyotyping of at risk fetuses by cordocentesis in advanced gestation. Indian J Med Res 1996, 104:288-291.
-
(1996)
Indian J Med Res
, vol.104
, pp. 288-291
-
-
Kabra, M.1
Saxena, R.2
Chinnappan, D.3
-
69
-
-
0036263292
-
Rapid prenatal karyotyping using foetal blood obtained by cordocentesis
-
Mathur R., Dubey S., Hamilton S., et al. Rapid prenatal karyotyping using foetal blood obtained by cordocentesis. Nat Med J India 2002, 15(2):75-77.
-
(2002)
Nat Med J India
, vol.15
, Issue.2
, pp. 75-77
-
-
Mathur, R.1
Dubey, S.2
Hamilton, S.3
-
70
-
-
78751687893
-
Prenatal diagnosis of fetal aneuploidies: post-genomic developments
-
Hahn S., Jackson L.G., Zimmermann B.G. Prenatal diagnosis of fetal aneuploidies: post-genomic developments. Genome Med 2010, 2(8):50.
-
(2010)
Genome Med
, vol.2
, Issue.8
, pp. 50
-
-
Hahn, S.1
Jackson, L.G.2
Zimmermann, B.G.3
-
71
-
-
79960556461
-
The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes
-
Shaffer L.G., Coppinger J., Morton S.A., et al. The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes. Prenat Diagn 2011, 31(8):778-787.
-
(2011)
Prenat Diagn
, vol.31
, Issue.8
, pp. 778-787
-
-
Shaffer, L.G.1
Coppinger, J.2
Morton, S.A.3
-
72
-
-
78751683468
-
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validation study
-
Chiu R.W., Akolekar R., Zheng Y.W., et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validation study. BMJ 2011, 342:c7401.
-
(2011)
BMJ
, vol.342
-
-
Chiu, R.W.1
Akolekar, R.2
Zheng, Y.W.3
-
73
-
-
80755172331
-
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study
-
Palomaki G.E., Kloza E.M., Lambert-Messerlian G.M., et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011, 13:913-920.
-
(2011)
Genet Med
, vol.13
, pp. 913-920
-
-
Palomaki, G.E.1
Kloza, E.M.2
Lambert-Messerlian, G.M.3
-
74
-
-
79953739378
-
Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21
-
Papageorgiou E.A., Karagrigoriou A., Tsaliki E., et al. Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21. Nat Med 2011, 17:510-513.
-
(2011)
Nat Med
, vol.17
, pp. 510-513
-
-
Papageorgiou, E.A.1
Karagrigoriou, A.2
Tsaliki, E.3
-
76
-
-
84856328923
-
Non-invasive prenatal diagnosis for Down syndrome: the paradigm will shift, but slowly
-
Benn P., Cuckle H., Pergament E. Non-invasive prenatal diagnosis for Down syndrome: the paradigm will shift, but slowly. Ultrasound Obstet Gynecol 2012, 39:127-130.
-
(2012)
Ultrasound Obstet Gynecol
, vol.39
, pp. 127-130
-
-
Benn, P.1
Cuckle, H.2
Pergament, E.3
-
77
-
-
33947673494
-
Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome
-
Fernandez F., Morishita W., Zuniga E., et al. Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome. Nat Neurosci 2007, 10:411-413.
-
(2007)
Nat Neurosci
, vol.10
, pp. 411-413
-
-
Fernandez, F.1
Morishita, W.2
Zuniga, E.3
-
78
-
-
43649094588
-
Acute injections of the NMDA receptor antagonist memantine rescue performance deficits of the Ts65Dn mouse model of Down syndrome on a fear conditioning test
-
Costa C., Scott-McKean J.J., Stasko M.R. Acute injections of the NMDA receptor antagonist memantine rescue performance deficits of the Ts65Dn mouse model of Down syndrome on a fear conditioning test. Neuropsychopharmacology 2007, 33:1624-1632.
-
(2007)
Neuropsychopharmacology
, vol.33
, pp. 1624-1632
-
-
Costa, C.1
Scott-McKean, J.J.2
Stasko, M.R.3
-
79
-
-
77951836101
-
Restoration of norepinephrine-modulated contextual memory in a mouse model of Down syndrome
-
7ra17
-
Salehi M., Faizi D., Colas J., et al. Restoration of norepinephrine-modulated contextual memory in a mouse model of Down syndrome. Sci Transl Med 2009, 1. 7ra17.
-
(2009)
Sci Transl Med
, vol.1
-
-
Salehi, M.1
Faizi, D.2
Colas, J.3
-
80
-
-
77951568674
-
Cognitive enhancement therapy for a model of Downs syndrome
-
Wiseman F.K. Cognitive enhancement therapy for a model of Downs syndrome. Sci Transl Med 2009, 1:1.
-
(2009)
Sci Transl Med
, vol.1
, pp. 1
-
-
Wiseman, F.K.1
|