-
1
-
-
0017692771
-
Frequency of chromosomal abnormalities in miscarriages and perinatal deaths
-
COI: 1:STN:280:DyaE1c%2FmvFWisA%3D%3D
-
Alberman ED, Creasy MR (1977) Frequency of chromosomal abnormalities in miscarriages and perinatal deaths. J Med Genet 14:313–315
-
(1977)
J Med Genet
, vol.14
, pp. 313-315
-
-
Alberman, E.D.1
Creasy, M.R.2
-
2
-
-
0030609486
-
Epidemiologic study of Down syndrome in a racially diverse California population, 1989–1991
-
COI: 1:STN:280:DyaK2s7lvV2luw%3D%3D
-
Bishop J, Huether CA, Torfs C, Lorey F, Deddens J (1997) Epidemiologic study of Down syndrome in a racially diverse California population, 1989–1991. Am J Epidemiol 145:134–147
-
(1997)
Am J Epidemiol
, vol.145
, pp. 134-147
-
-
Bishop, J.1
Huether, C.A.2
Torfs, C.3
Lorey, F.4
Deddens, J.5
-
3
-
-
85050949767
-
The effect of interventions on the outcomes of congenital disorders
-
in prep
-
Blencowe H, Moorthie S, Darlison M, Gibbons S, Lawn J, Modell B, Congenital Disorders Expert Group (2017) The effect of interventions on the outcomes of congenital disorders. J Community Genet (in prep)
-
(2017)
J Community Genet
-
-
Blencowe, H.1
Moorthie, S.2
Darlison, M.3
Gibbons, S.4
Lawn, J.5
Modell, B.6
-
4
-
-
34147152346
-
Klinefelter syndrome in clinical practice
-
Bojesen A, Gravholt CH (2007) Klinefelter syndrome in clinical practice. Nat Clin Pract Urol 4:192–204. 10.1038/ncpuro0775
-
(2007)
Nat Clin Pract Urol
, vol.4
, pp. 192-204
-
-
Bojesen, A.1
Gravholt, C.H.2
-
5
-
-
0037326103
-
Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study
-
Bojesen A, Juul S, Gravholt CH (2003) Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab 88:622–626. 10.1210/jc.2002-021491
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 622-626
-
-
Bojesen, A.1
Juul, S.2
Gravholt, C.H.3
-
6
-
-
0031983965
-
Joint estimation of Down syndrome risk and ascertainment rates: a meta-analysis of nine published data sets
-
COI: 1:STN:280:DyaK1c7ksVKhuw%3D%3D
-
Bray I, Wright DE, Davies C, Hook EB (1998) Joint estimation of Down syndrome risk and ascertainment rates: a meta-analysis of nine published data sets. Prenat Diagn 18:9–20
-
(1998)
Prenat Diagn
, vol.18
, pp. 9-20
-
-
Bray, I.1
Wright, D.E.2
Davies, C.3
Hook, E.B.4
-
7
-
-
0024211563
-
Klinefelter’s syndrome in Sardinia and Scotland. Comparative studies of parental age and other aetiological factors in 47
-
COI: 1:STN:280:DyaL1M%2FmsFOgsg%3D%3D
-
Carothers AD, Filippi G (1988) Klinefelter’s syndrome in Sardinia and Scotland. Comparative studies of parental age and other aetiological factors in 47. XXY Hum Genet 81:71–75
-
(1988)
XXY Hum Genet
, vol.81
, pp. 71-75
-
-
Carothers, A.D.1
Filippi, G.2
-
8
-
-
41849116370
-
Trisomies 13 and 18: population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994–2003
-
Crider KS, Olney RS, Cragan JD (2008) Trisomies 13 and 18: population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994–2003. Am J Med Genet A 146A:820–826. 10.1002/ajmg.a.32200
-
(2008)
Am J Med Genet A
, vol.146A
, pp. 820-826
-
-
Crider, K.S.1
Olney, R.S.2
Cragan, J.D.3
-
9
-
-
0023197081
-
Estimating a woman’s risk of having a pregnancy associated with Down’s syndrome using her age and serum alpha-fetoprotein level
-
COI: 1:STN:280:DyaL2s3hsVWjtg%3D%3D
-
Cuckle HS, Wald NJ, Thompson SG (1987) Estimating a woman’s risk of having a pregnancy associated with Down’s syndrome using her age and serum alpha-fetoprotein level. Br J Obstet Gynaecol 94:387–402
-
(1987)
Br J Obstet Gynaecol
, vol.94
, pp. 387-402
-
-
Cuckle, H.S.1
Wald, N.J.2
Thompson, S.G.3
-
10
-
-
79952777513
-
Changes in yearly birth prevalence rates of children with Down syndrome in the period 1986–2007 in the Netherlands
-
de Graaf G et al (2011) Changes in yearly birth prevalence rates of children with Down syndrome in the period 1986–2007 in the Netherlands. J Intellect Disabil Res 55:462–473. 10.1111/j.1365-2788.2011.01398.x
-
(2011)
J Intellect Disabil Res
, vol.55
, pp. 462-473
-
-
de Graaf, G.1
-
11
-
-
78349234313
-
Abortion in Brazil: a household survey using the ballot box technique
-
Diniz D, Medeiros M (2010) Abortion in Brazil: a household survey using the ballot box technique. Cien Saude Colet 15(Suppl 1):959–966
-
(2010)
Cien Saude Colet
, vol.15
, pp. 959-966
-
-
Diniz, D.1
Medeiros, M.2
-
13
-
-
0141529895
-
Maternal age-specific Down syndrome rates by maternal race/ethnicity, Hawaii, 1986-2000
-
Forrester MB, Merz RD (2003) Maternal age-specific Down syndrome rates by maternal race/ethnicity, Hawaii, 1986–2000. Birth Defects Res A Clin Mol Teratol 67:625–629. 10.1002/bdra.10112
-
(2003)
Birth Defects Research Part A: Clinical and Molecular Teratology
, vol.67
, Issue.9
, pp. 625-629
-
-
Forrester, M.B.1
Merz, R.D.2
-
14
-
-
84959321790
-
Improved survival in Down syndrome over the last 60 years and the impact of perinatal factors in recent decades
-
Glasson EJ, Jacques A, Wong K, Bourke J, Leonard H (2016) Improved survival in Down syndrome over the last 60 years and the impact of perinatal factors in recent decades. J Pediatr 169:214–220 e211. 10.1016/j.jpeds.2015.10.083
-
(2016)
J Pediatr
, vol.169
, pp. 214-220 e211
-
-
Glasson, E.J.1
Jacques, A.2
Wong, K.3
Bourke, J.4
Leonard, H.5
-
15
-
-
0029029162
-
New estimates of Down syndrome risks at chorionic villus sampling, amniocentesis, and livebirth in women of advanced maternal age from a uniquely defined population
-
COI: 1:STN:280:DyaK2Mznt1ejsw%3D%3D
-
Halliday JL, Watson LF, Lumley J, Danks DM, Sheffield LJ (1995) New estimates of Down syndrome risks at chorionic villus sampling, amniocentesis, and livebirth in women of advanced maternal age from a uniquely defined population. Prenat Diagn 15:455–465
-
(1995)
Prenat Diagn
, vol.15
, pp. 455-465
-
-
Halliday, J.L.1
Watson, L.F.2
Lumley, J.3
Danks, D.M.4
Sheffield, L.J.5
-
16
-
-
74549182595
-
Maternal age and chromosomally abnormal pregnancies: what we know and what we wish we knew
-
Hassold T, Hunt P (2009) Maternal age and chromosomally abnormal pregnancies: what we know and what we wish we knew. Curr Opin Pediatr 21:703–708. 10.1097/MOP.0b013e328332c6ab
-
(2009)
Curr Opin Pediatr
, vol.21
, pp. 703-708
-
-
Hassold, T.1
Hunt, P.2
-
17
-
-
0029818072
-
Human aneuploidy: incidence, origin, and etiology
-
Hassold T et al (1996) Human aneuploidy: incidence, origin, and etiology. Environ Mol Mutagen 28:167–175. 10.1002/(SICI)1098-2280(1996)28:3%3C167::AID-EM2%3E3.0.CO;2-B
-
(1996)
Environ Mol Mutagen
, vol.28
, pp. 167-175
-
-
Hassold, T.1
-
18
-
-
0029962303
-
Rates of Down syndrome at livebirth by one-year maternal age intervals in studies with apparent close to complete ascertainment in populations of European origin: a proposed revised rate schedule for use in genetic and prenatal screening
-
Hecht CA, Hook EB (1996) Rates of Down syndrome at livebirth by one-year maternal age intervals in studies with apparent close to complete ascertainment in populations of European origin: a proposed revised rate schedule for use in genetic and prenatal screening. Am J Med Genet 62:376–385. 10.1002/(SICI)1096-8628(19960424)62:4%3C376::AID-AJMG10%3E3.0.CO;2-L
-
(1996)
Am J Med Genet
, vol.62
, pp. 376-385
-
-
Hecht, C.A.1
Hook, E.B.2
-
19
-
-
0002418993
-
The frequency of chromosome abnormalities detected in consecutive newborn studies—differences between studies—results by sex and by severity of phenotypic involvement
-
Hook EB, Porter IH, Institute. NYSBD, held in Albany, New York, October 14–15, 1975 Birth Defects Institute symposia. Academic Press, New York
-
Hook EB, Hamerton JL (1977) The frequency of chromosome abnormalities detected in consecutive newborn studies—differences between studies—results by sex and by severity of phenotypic involvement. In: Hook EB, Porter IH, Institute. NYSBD (eds) Population cytogenetics: studies in humans: proceedings of a Symposium on Human Population Cytogenetics sponsored by the Birth Defects Institute of the New York State Department of Health, held in Albany, New York, October 14–15, 1975 Birth Defects Institute symposia. Academic Press, New York
-
(1977)
Population Cytogenetics: Studies in Humans: Proceedings of a Symposium on Human Population Cytogenetics Sponsored by the Birth Defects Institute of the New York State Department of Health
-
-
Hook, E.B.1
Hamerton, J.L.2
-
20
-
-
0020696212
-
Chromosomal abnormality rates at amniocentesis and in live-born infants
-
COI: 1:STN:280:DyaL3s7msVGqsg%3D%3D
-
Hook EB, Cross PK, Schreinemachers DM (1983) Chromosomal abnormality rates at amniocentesis and in live-born infants. JAMA 249:2034–2038
-
(1983)
JAMA
, vol.249
, pp. 2034-2038
-
-
Hook, E.B.1
Cross, P.K.2
Schreinemachers, D.M.3
-
22
-
-
0033760232
-
Ethnic differences in the impact of advanced maternal age on birth prevalence of Down syndrome
-
COI: 1:STN:280:DC%2BD3M%2FkslGjtQ%3D%3D
-
Khoshnood B, Pryde P, Wall S, Singh J, Mittendorf R, Lee KS (2000) Ethnic differences in the impact of advanced maternal age on birth prevalence of Down syndrome. Am J Public Health 90:1778–1781
-
(2000)
Am J Public Health
, vol.90
, pp. 1778-1781
-
-
Khoshnood, B.1
Pryde, P.2
Wall, S.3
Singh, J.4
Mittendorf, R.5
Lee, K.S.6
-
23
-
-
84872875038
-
Trends in survival among children with Down syndrome in 10 regions of the United States
-
Kucik JE, Shin M, Siffel C, Marengo L, Correa A, Congenital Anomaly Multistate P, Survival C (2013) Trends in survival among children with Down syndrome in 10 regions of the United States. Pediatrics 131:e27–e36. 10.1542/peds.2012-1616
-
(2013)
Pediatrics
, vol.131
, pp. e27-e36
-
-
Kucik, J.E.1
Shin, M.2
Siffel, C.3
Marengo, L.4
Correa, A.5
-
24
-
-
77954096638
-
How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research
-
Leoncini E et al (2010) How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research. Am J Med Genet A 152A:1670–1680. 10.1002/ajmg.a.33493
-
(2010)
Am J Med Genet A
, vol.152A
, pp. 1670-1680
-
-
Leoncini, E.1
-
25
-
-
79952682978
-
Paper 3: EUROCAT data quality indicators for population-based registries of congenital anomalies
-
Loane M, Dolk H, Garne E, Greenlees R, Group EW (2011) Paper 3: EUROCAT data quality indicators for population-based registries of congenital anomalies. Birth Defects Res A Clin Mol Teratol 91(Suppl 1):S23–S30. 10.1002/bdra.20779
-
(2011)
Birth Defects Res A Clin Mol Teratol
, vol.91
, pp. S23-S30
-
-
Loane, M.1
Dolk, H.2
Garne, E.3
Greenlees, R.4
Group, E.W.5
-
26
-
-
84871188596
-
Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening
-
Loane M et al (2013) Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening. Eur J Hum Genet 21:27–33. 10.1038/ejhg.2012.94
-
(2013)
Eur J Hum Genet
, vol.21
, pp. 27-33
-
-
Loane, M.1
-
27
-
-
85054151369
-
An overview of concepts and approaches used in estimating the burden of congenital disorders globally
-
in prep
-
Moorthie S et al. (2017) An overview of concepts and approaches used in estimating the burden of congenital disorders globally. J Community Genet (in prep)
-
(2017)
J Community Genet
-
-
Moorthie, S.1
-
28
-
-
0033023149
-
Fetal loss in Down syndrome pregnancies
-
COI: 1:STN:280:DyaK1M3ivF2isw%3D%3D
-
Morris JK, Wald NJ, Watt HC (1999) Fetal loss in Down syndrome pregnancies. Prenat Diagn 19:142–145
-
(1999)
Prenat Diagn
, vol.19
, pp. 142-145
-
-
Morris, J.K.1
Wald, N.J.2
Watt, H.C.3
-
29
-
-
0036227897
-
Revised estimates of the maternal age specific live birth prevalence of Down’s syndrome
-
COI: 1:STN:280:DC%2BD383gvFOktw%3D%3D
-
Morris JK, Mutton DE, Alberman E (2002) Revised estimates of the maternal age specific live birth prevalence of Down’s syndrome. J Med Screen 9:2–6
-
(2002)
J Med Screen
, vol.9
, pp. 2-6
-
-
Morris, J.K.1
Mutton, D.E.2
Alberman, E.3
-
30
-
-
18244381501
-
Risk of a Down syndrome live birth in women 45 years of age and older
-
Morris JK, De Vigan C, Mutton DE, Alberman E (2005) Risk of a Down syndrome live birth in women 45 years of age and older. Prenat Diagn 25:275–278. 10.1002/pd.1059
-
(2005)
Prenat Diagn
, vol.25
, pp. 275-278
-
-
Morris, J.K.1
De Vigan, C.2
Mutton, D.E.3
Alberman, E.4
-
31
-
-
38349120051
-
Is the prevalence of Klinefelter syndrome increasing?
-
Morris JK, Alberman E, Scott C, Jacobs P (2008) Is the prevalence of Klinefelter syndrome increasing? Eur J Hum Genet 16:163–170. 10.1038/sj.ejhg.5201956
-
(2007)
European Journal of Human Genetics
, vol.16
, Issue.2
, pp. 163-170
-
-
Morris, J.K.1
Alberman, E.2
Scott, C.3
Jacobs, P.4
-
32
-
-
41849137305
-
The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18
-
Morris JK, Savva GM (2008) The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18. Am J Med Genet A 146A:827–832. 10.1002/ajmg.a.32220
-
(2008)
American Journal of Medical Genetics Part A
, vol.146A
, Issue.7
, pp. 827-832
-
-
Morris, J.K.1
Savva, G.M.2
-
33
-
-
84911092231
-
Major congenital anomalies in babies born with Down syndrome: a EUROCAT population-based registry study
-
Morris JK et al (2014) Major congenital anomalies in babies born with Down syndrome: a EUROCAT population-based registry study. Am J Med Genet A 164A:2979–2986. 10.1002/ajmg.a.36780
-
(2014)
Am J Med Genet A
, vol.164A
, pp. 2979-2986
-
-
Morris, J.K.1
-
35
-
-
84861996747
-
Clinical review: Turner syndrome: updating the paradigm of clinical care
-
Pinsker JE (2012) Clinical review: Turner syndrome: updating the paradigm of clinical care. J Clin Endocrinol Metab 97:E994–1003. 10.1210/jc.2012-1245
-
(2012)
J Clin Endocrinol Metab
, vol.97
, pp. E994-E1003
-
-
Pinsker, J.E.1
-
36
-
-
75149173155
-
The maternal age-specific live birth prevalence of trisomies 13 and 18 compared to trisomy 21 (Down syndrome)
-
Savva GM, Walker K, Morris JK (2010) The maternal age-specific live birth prevalence of trisomies 13 and 18 compared to trisomy 21 (Down syndrome). Prenat Diagn 30:57–64. 10.1002/pd.2403
-
(2010)
Prenat Diagn
, vol.30
, pp. 57-64
-
-
Savva, G.M.1
Walker, K.2
Morris, J.K.3
-
37
-
-
0003904054
-
-
Academic Press, New York
-
Shryock HS, Siegel JS, Stockwell EG, United States. Bureau of the Census (1976) The methods and materials of demography. Studies in population, Condensed edn. Academic Press, New York
-
(1976)
The methods and materials of demography. Studies in population, Condensed edn
-
-
Shryock, H.S.1
Siegel, J.S.2
Stockwell, E.G.3
-
39
-
-
84887623999
-
-
England and Wales. London: British Isles Network of Congenital Anomaly Registers
-
Springett A, Budd J, Draper ES, Kurinczuk JJ, Medina J, Rankin J, Rounding C, Tucker D, Wellesley D., Wreyford B, Morris JK. (2014) Congenital anomaly statistics 2012: England and Wales. London: British Isles Network of Congenital Anomaly Registers
-
(2014)
Congenital anomaly statistics 2012
-
-
Springett, A.1
Budd, J.2
Draper, E.S.3
Kurinczuk, J.J.4
Medina, J.5
Rankin, J.6
Rounding, C.7
Tucker, D.8
Wellesley, D.9
Wreyford, B.10
Morris, J.K.11
-
40
-
-
84937684730
-
The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy
-
Tartaglia N et al (2015) The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy. J Multidiscip Healthc 8:323–334. 10.2147/JMDH.S80242
-
(2015)
J Multidiscip Healthc
, vol.8
, pp. 323-334
-
-
Tartaglia, N.1
-
41
-
-
85054152619
-
-
UN Demographic Yearbook special issue on age heaping (2017) http://unstatsun.org/unsd/demographic/products/dyb/dybcenshtm
-
(2017)
-
-
-
42
-
-
84941051762
-
-
United Nations publication, Sales No. E.14.XIII.11
-
United Nations (Department of Economic and Social Affairs Population Division), Abortion Policies and Reproductive Health around the World (United Nations publication, Sales No. E.14.XIII.11). 2014
-
(2014)
Abortion Policies and Reproductive Health around the World
-
-
-
43
-
-
85054131678
-
-
World Population Prospects: the 2015 Revision
-
United Nations Population Division, World Population Prospects: the 2015 Revision (2015) http://esaun.org/wpp/indexhtm 2015
-
(2015)
-
-
-
44
-
-
84859894558
-
Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe
-
Wellesley D et al (2012) Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe. Eur J Hum Genet 20:521–526. 10.1038/ejhg.2011.246
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 521-526
-
-
Wellesley, D.1
-
45
-
-
84882451214
-
The population prevalence of Down’s syndrome in England and Wales in 2011
-
Wu J, Morris JK (2013) The population prevalence of Down’s syndrome in England and Wales in 2011. Eur J Hum Genet 21:1016–1019. 10.1038/ejhg.2012
-
(2013)
Eur J Hum Genet
, vol.21
, pp. 1016-1019
-
-
Wu, J.1
Morris, J.K.2
|