-
2
-
-
0031029826
-
Down syndrome: Characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21) (q26;q22.1) by FISH
-
M. Nadal, S. Moreno, M. Pritchard, M.A. Preciado, X. Estivill, and M.A. Ramos-Arroyo Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21) (q26;q22.1) by FISH J Med Genet 34 1997 50 54
-
(1997)
J Med Genet
, vol.34
, pp. 50-54
-
-
Nadal, M.1
Moreno, S.2
Pritchard, M.3
Preciado, M.A.4
Estivill, X.5
Ramos-Arroyo, M.A.6
-
3
-
-
0025907673
-
Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms: Down Syndrome Collaborative Group
-
S.E. Antonarakis Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms Down Syndrome Collaborative Group N Engl J Med 324 1991 872 876
-
(1991)
N Engl J Med
, vol.324
, pp. 872-876
-
-
Antonarakis, S.E.1
-
4
-
-
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
-
D. Mutton, E. Alberman, and E.B. Hook 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 33 1996 387 394
-
(1996)
J Med Genet
, vol.33
, pp. 387-394
-
-
Mutton, D.1
Alberman, E.2
Hook, E.B.3
-
5
-
-
49949102918
-
Maternal serum screening in cases of mosaic and translocation Down syndrome
-
S. Dreux, C. Olivier, J.M. Dupont, N. Leporrier, J.F. Oury, and F. Muller Maternal serum screening in cases of mosaic and translocation Down syndrome Prenat Diagn 28 2008 699 703
-
(2008)
Prenat Diagn
, vol.28
, pp. 699-703
-
-
Dreux, S.1
Olivier, C.2
Dupont, J.M.3
Leporrier, N.4
Oury, J.F.5
Muller, F.6
-
6
-
-
77957330788
-
Clinical cytogenetics: Disorders of the autosomes and the sex chromosomes
-
R. Nussbaum, R. McInnes, and H. Willard Clinical cytogenetics: disorders of the autosomes and the sex chromosomes R. Nussbaum, R. McInnes, H. Willard, Thompson and Thompson genetics in medicine 2010 Saunders Elsevier Philadelphia
-
(2010)
Thompson and Thompson Genetics in Medicine
-
-
Nussbaum, R.1
McInnes, R.2
Willard, H.3
-
7
-
-
0025656524
-
Epidemiology of Down syndrome in 118,265 consecutive births
-
C. Stoll, Y. Alembik, B. Dott, and M.P. Roth Epidemiology of Down syndrome in 118,265 consecutive births Am J Med Genet Suppl 7 1990 79 83
-
(1990)
Am J Med Genet Suppl
, vol.7
, pp. 79-83
-
-
Stoll, C.1
Alembik, Y.2
Dott, B.3
Roth, M.P.4
-
8
-
-
0032146382
-
UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation: Fetal Medicine Foundation First Trimester Screening Group
-
R.J. Snijders, P. Noble, N. Sebire, A. Souka, and K.H. Nicolaides UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation Fetal Medicine Foundation First Trimester Screening Group Lancet 352 1998 343 346
-
(1998)
Lancet
, vol.352
, pp. 343-346
-
-
Snijders, R.J.1
Noble, P.2
Sebire, N.3
Souka, A.4
Nicolaides, K.H.5
-
9
-
-
0141863495
-
First-trimester screening for trisomies 21 and 18
-
R. Wapner, E. Thom, and J.L. Simpson First-trimester screening for trisomies 21 and 18 N Engl J Med 349 2003 1405 1413
-
(2003)
N Engl J Med
, vol.349
, pp. 1405-1413
-
-
Wapner, R.1
Thom, E.2
Simpson, J.L.3
-
10
-
-
4043063702
-
Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities
-
K.H. Nicolaides Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities Am J Obstet Gynecol 191 2004 45 67
-
(2004)
Am J Obstet Gynecol
, vol.191
, pp. 45-67
-
-
Nicolaides, K.H.1
-
11
-
-
27144504477
-
First-trimester screening for Down syndrome with ductus venosus Doppler studies in addition to nuchal translucency and serum markers
-
A. Borrell, A. Gonce, and J.M. Martinez First-trimester screening for Down syndrome with ductus venosus Doppler studies in addition to nuchal translucency and serum markers Prenat Diagn 25 2005 901 905
-
(2005)
Prenat Diagn
, vol.25
, pp. 901-905
-
-
Borrell, A.1
Gonce, A.2
Martinez, J.M.3
-
12
-
-
0033800333
-
Biochemical screening for Down syndrome
-
H. Cuckle Biochemical screening for Down syndrome Eur J Obstet Gynecol Reprod Biol 92 2000 97 101
-
(2000)
Eur J Obstet Gynecol Reprod Biol
, vol.92
, pp. 97-101
-
-
Cuckle, H.1
-
13
-
-
0030777948
-
α-fetoprotein, free β-human chorionic gonadotropin, and dimeric inhibin A produce the best results in a three-analyte, multiple-marker screening test for fetal Down syndrome
-
K.D. Wenstrom, J. Owen, D.C. Chu, and L. Boots Alpha-fetoprotein, free beta-human chorionic gonadotropin, and dimeric inhibin A produce the best results in a three-analyte, multiple-marker screening test for fetal Down syndrome Am J Obstet Gynecol 177 1997 987 991 (Pubitemid 27525343)
-
(1997)
American Journal of Obstetrics and Gynecology
, vol.177
, Issue.5
, pp. 987-991
-
-
Wenstrom, K.D.1
Owen, J.2
Chu, D.C.3
Boots, L.4
-
14
-
-
2642547111
-
A proportional hazards model with time-dependent covariates and time-varying effects for analysis of fetal and infant death
-
R.W. Platt, K.S. Joseph, C.V. Ananth, J. Grondines, M. Abrahamowicz, and M.S. Kramer A proportional hazards model with time-dependent covariates and time-varying effects for analysis of fetal and infant death Am J Epidemiol 160 2004 199 206
-
(2004)
Am J Epidemiol
, vol.160
, pp. 199-206
-
-
Platt, R.W.1
Joseph, K.S.2
Ananth, C.V.3
Grondines, J.4
Abrahamowicz, M.5
Kramer, M.S.6
-
15
-
-
27744477773
-
First-trimester or second-trimester screening, or both, for Down's syndrome
-
F.D. Malone, J.A. Canick, and R.H. Ball First-trimester or second-trimester screening, or both, for Down's syndrome N Engl J Med 353 2005 2001 2011
-
(2005)
N Engl J Med
, vol.353
, pp. 2001-2011
-
-
Malone, F.D.1
Canick, J.A.2
Ball, R.H.3
-
16
-
-
39749142076
-
Contingent screening for Down syndromeresults from the FaSTER trial
-
H.S. Cuckle, F.D. Malone, and D. Wright Contingent screening for Down syndromeresults from the FaSTER trial Prenat Diagn 28 2008 89 94
-
(2008)
Prenat Diagn
, vol.28
, pp. 89-94
-
-
Cuckle, H.S.1
Malone, F.D.2
Wright, D.3
-
17
-
-
0028932931
-
Adjusting the risk for trisomy 21 on the basis of second-trimester ultrasonography
-
A.M. Vintzileos, and J.F. Egan Adjusting the risk for trisomy 21 on the basis of second-trimester ultrasonography Am J Obstet Gynecol 172 1995 837 844
-
(1995)
Am J Obstet Gynecol
, vol.172
, pp. 837-844
-
-
Vintzileos, A.M.1
Egan, J.F.2
-
18
-
-
0034986530
-
Sonographic markers of fetal trisomies: Second trimester
-
D.A. Nyberg, and V.L. Souter Sonographic markers of fetal trisomies: second trimester J Ultrasound Med 20 2001 655 674
-
(2001)
J Ultrasound Med
, vol.20
, pp. 655-674
-
-
Nyberg, D.A.1
Souter, V.L.2
-
19
-
-
0034789740
-
Isolated sonographic markers for detection of fetal Down syndrome in the second trimester of pregnancy
-
D.A. Nyberg, V.L. Souter, A. El-Bastawissi, S. Young, F. Luthhardt, and D.A. Luthy Isolated sonographic markers for detection of fetal Down syndrome in the second trimester of pregnancy J Ultrasound Med 20 2001 1053 1063
-
(2001)
J Ultrasound Med
, vol.20
, pp. 1053-1063
-
-
Nyberg, D.A.1
Souter, V.L.2
El-Bastawissi, A.3
Young, S.4
Luthhardt, F.5
Luthy, D.A.6
-
20
-
-
0035143675
-
The genetic sonogram: Its use in the detection of chromosomal abnormalities in fetuses of women of advanced maternal age
-
G.R. DeVore The genetic sonogram: its use in the detection of chromosomal abnormalities in fetuses of women of advanced maternal age Prenat Diagn 21 2001 40 45
-
(2001)
Prenat Diagn
, vol.21
, pp. 40-45
-
-
Devore, G.R.1
-
21
-
-
62549091438
-
Comparison of modes of ascertainment for mosaic vs complete trisomy 21
-
E. Bornstein, E. Lenchner, A. Donnenfeld, S. Kapp, S.M. Keeler, and M.Y. Divon Comparison of modes of ascertainment for mosaic vs complete trisomy 21 Am J Obstet Gynecol 200 2009 440.e1 440.e5
-
(2009)
Am J Obstet Gynecol
, vol.200
-
-
Bornstein, E.1
Lenchner, E.2
Donnenfeld, A.3
Kapp, S.4
Keeler, S.M.5
Divon, M.Y.6
-
22
-
-
3142667923
-
Accuracy of the clinical diagnosis of Down syndrome
-
L. Devlin, and P.J. Morrison Accuracy of the clinical diagnosis of Down syndrome Ulster Med J 73 2004 4 12
-
(2004)
Ulster Med J
, vol.73
, pp. 4-12
-
-
Devlin, L.1
Morrison, P.J.2
-
23
-
-
0030330234
-
Early mortality and morbidity in children with Down's syndrome diagnosed in two regional health authorities in 1989
-
M.E. Brookes, and E. Alberman Early mortality and morbidity in children with Down's syndrome diagnosed in two regional health authorities in 1989 J Med Screen 3 1996 7 11
-
(1996)
J Med Screen
, vol.3
, pp. 7-11
-
-
Brookes, M.E.1
Alberman, E.2
-
24
-
-
0002418993
-
The frequency of chromosome abnormalities detected in consecutive newborn studiesdifferences between studiesresults by sex and by severity of phenotypic involvement
-
E.B. Hook, and J.L. Hammerton The frequency of chromosome abnormalities detected in consecutive newborn studiesdifferences between studiesresults by sex and by severity of phenotypic involvement I.H. Porter, E.B. Hook, Population cytogenetics 1977 Academic Press New York
-
(1977)
Population Cytogenetics
-
-
Hook, E.B.1
Hammerton, J.L.2
-
25
-
-
33646171446
-
NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21
-
J.R. Arron, M.M. Winslow, and A. Polleri NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21 Nature 441 2006 595 600
-
(2006)
Nature
, vol.441
, pp. 595-600
-
-
Arron, J.R.1
Winslow, M.M.2
Polleri, A.3
-
26
-
-
33646559053
-
A genome-wide Drosophila RNAi screen identifies DYRK-family kinases as regulators of NFAT
-
Y. Gwack, S. Sharma, and J. Nardone A genome-wide Drosophila RNAi screen identifies DYRK-family kinases as regulators of NFAT Nature 441 2006 646 650
-
(2006)
Nature
, vol.441
, pp. 646-650
-
-
Gwack, Y.1
Sharma, S.2
Nardone, J.3
|