-
1
-
-
33747686159
-
A case of human intersexuality having a possible XXY sex-determining mechanism
-
Jacobs PA, Strong JA. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 1959; 183: 302-303.
-
(1959)
Nature
, vol.183
, pp. 302-303
-
-
Jacobs, P.A.1
Strong, J.A.2
-
2
-
-
34147152346
-
Klinefelter syndrome in clinical practice
-
Bojesen A, Gravholt CH. Klinefelter syndrome in clinical practice. Nat Clin Pract Urol 2007; 4: 192-204.
-
(2007)
Nat Clin Pract Urol
, vol.4
, pp. 192-204
-
-
Bojesen, A.1
Gravholt, C.H.2
-
3
-
-
0025542292
-
Sex chromosome abnormalities found among 34,910 newborn children: Results from a 13-year incidence study in Arhus, Denmark
-
Nielsen J, Wohlert M. Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Birth Defects Orig Artic Ser 1990; 26: 209-223.
-
(1990)
Birth Defects Orig Artic Ser
, vol.26
, pp. 209-223
-
-
Nielsen, J.1
Wohlert, M.2
-
4
-
-
0017210706
-
Development of children with sex chromosome abnormalities
-
Ratcliffe S. Development of children with sex chromosome abnormalities. Proc R Soc Med 1976; 69: 3.
-
(1976)
Proc R Soc Med
, vol.69
, pp. 3
-
-
Ratcliffe, S.1
-
5
-
-
0016588841
-
A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities
-
Hamerton JL, Canning N, Ray M, Smith S. A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clin Genet 1975; 8: 223-243.
-
(1975)
Clin Genet
, vol.8
, pp. 223-243
-
-
Hamerton, J.L.1
Canning, N.2
Ray, M.3
Smith, S.4
-
6
-
-
0016227484
-
Population cytogenetic investigation of newborns in Moscow
-
Bochkov NP, Kuleshov NP, Chebotarev AN, et al. Population cytogenetic investigation of newborns in Moscow. Humangenetik 1974; 22: 139-152.
-
(1974)
Humangenetik
, vol.22
, pp. 139-152
-
-
Bochkov, N.P.1
Kuleshov, N.P.2
Chebotarev, A.N.3
-
7
-
-
0018308183
-
Incidence of major chromosome aberrations in 12,319 newborn infants in Tokyo
-
Higurashi M, Iijima K, Ishikawa N, et al. Incidence of major chromosome aberrations in 12,319 newborn infants in Tokyo. Hum Genet 1979; 46: 163-172. (Pubitemid 9257778)
-
(1979)
Human Genetics
, vol.46
, Issue.2
, pp. 163-172
-
-
Higurashi, M.1
Iijima, K.2
Ishikawa, N.3
-
8
-
-
0018427254
-
Chromosomal abnormalities in the New Haven Newborn Study: A prospective study of development of children with sex chromosome abnomalies
-
Leonard MF, Schowalter JE, Landy G, et al. Chromosomal abnormalities in the New Haven newborn study: a prospective study of development of children with sex chromosome anomalies. Birth Defects Orig Artic Ser 1979; 15: 115-159. (Pubitemid 9165506)
-
(1979)
Birth Defects: Original Article Series
, vol.15
, Issue.1
, pp. 115-159
-
-
Leonard, M.F.1
Schowalter, J.E.2
Landy, G.3
-
9
-
-
0013324347
-
Sex-chromosome abnormalities in newborn babies
-
Maclean N, Harnden DG, Brown WM, et al. Sex-chromosome abnormalities in newborn babies. Lancet 1964; 1: 286-290.
-
(1964)
Lancet
, vol.1
, pp. 286-290
-
-
Maclean, N.1
Harnden, D.G.2
Brown, W.M.3
-
10
-
-
0037326103
-
Prenatal and postnatal prevalence of Klinefelter syndrome: A national registry study
-
Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab 2003; 88: 622-626.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 622-626
-
-
Bojesen, A.1
Juul, S.2
Gravholt, C.H.3
-
11
-
-
0030948448
-
47,XXY (Klinefelter Syndrome) and 47,XYY: Estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling
-
DOI 10.1002/(SICI)1097-0223(199704)17:4<363::AID-PD79>3.0.CO;2-O
-
Abramsky L, Chapple J. 47, XXY (Klinefelter syndrome) and 47, XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling. Prenat Diagn 1997; 17: 363-368. (Pubitemid 27192961)
-
(1997)
Prenatal Diagnosis
, vol.17
, Issue.4
, pp. 363-368
-
-
Abramsky, L.1
Chapple, J.2
-
12
-
-
10744225919
-
Klinefelter syndrome: Expanding the phenotype and identifying new research directions
-
DOI 10.1097/01.GIM.0000095626.54201.D0
-
Simpson JL, De La Cruz F, Swerdloff RS, et al. Klinefelter syndrome: expanding the phenotype and identifying new research directions. Genet Med 2003; 5: 460-468. (Pubitemid 37483416)
-
(2003)
Genetics in Medicine
, vol.5
, Issue.6
, pp. 460-468
-
-
Simpson, J.L.1
De, L.C.F.2
Swerdloff, R.S.3
Samango-Sprouse, C.4
Skakkebaek, N.E.5
Graham Jr., J.M.6
Hassold, T.7
Aylstock, M.8
Meyer-Bahlburg, H.F.L.9
Willard, H.F.10
Hall, J.G.11
Salameh, W.12
Boone, K.13
Staessen, C.14
Geschwind, D.15
Giedd, J.16
Dobs, A.S.17
Rogol, A.18
Brinton, B.19
Alvin, P.C.20
more..
-
13
-
-
3242707769
-
Klinefelter's syndrome
-
DOI 10.1016/S0140-6736(04)16678-6, PII S0140673604166786
-
Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E. Klinefelter's syndrome. Lancet 2004; 364: 273-283. (Pubitemid 38942818)
-
(2004)
Lancet
, vol.364
, Issue.9430
, pp. 273-283
-
-
Lanfranco, F.1
Kamischke, A.2
Zitzmann, M.3
Nieschlag, P.E.4
-
15
-
-
0021229263
-
Maternal age specific rates for chromosome aberrations and factors influencing them: Report of a collaborative European study on 52,965 amniocenteses
-
Ferguson-Smith MA, Yates JR. Maternal age specific rates for chromosome aberrations and factors influencing them. Report of a collaborative European study on 52,965 amniocenteses. Prenat Diagn 1984; 4: 5-44. (Pubitemid 14058139)
-
(1984)
Prenatal Diagnosis
, vol.4
, Issue.SPEC. ISS
, pp. 5-44
-
-
Ferguson-Smith, M.A.1
Yates, J.R.W.2
-
16
-
-
78349234984
-
Case-control analysis of paternal age and trisomic anomalies
-
EUROCAT working group. Jun 28
-
De Souza E, Morris JK; EUROCAT working group. Case-control analysis of paternal age and trisomic anomalies. Arch Dis Child 2010; Jun 28.
-
(2010)
Arch Dis Child
-
-
De Souza, E.1
Morris, J.K.2
-
17
-
-
59049095860
-
-
Australian Bureau of Statistics. Canberra: ABS, (ABS Cat. No. 3301.0.)
-
Australian Bureau of Statistics. Births Australia 2006. Canberra: ABS, 2006: (ABS Cat. No. 3301.0.)
-
(2006)
Births Australia 2006
-
-
-
19
-
-
79955706976
-
-
(ABS Cat. No. 1301.0.) (accessed Nov 2009)
-
Australian Bureau of Statistics. Year book Australia, 2009-10. (ABS Cat. No. 1301.0.) http://www.abs.gov.au/AUSSTATS/abs@.nsf/allprimarymainfeatures/ 796378C9B98D7F1CCA25773700177E5E?opendocument (accessed Nov 2009).
-
Year Book Australia, 2009-10
-
-
-
20
-
-
70350519151
-
Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA
-
Coffee B, Keith K, Albizua I, et al. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet 2009; 85: 503-514.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 503-514
-
-
Coffee, B.1
Keith, K.2
Albizua, I.3
-
21
-
-
70350442054
-
-
[Danish]. (accessed Nov 2009)
-
Denmark S. [Population statistics, 2009] [Danish]. http://www. statistikbanken.dk (accessed Nov 2009).
-
(2009)
Population Statistics
-
-
Denmark, S.1
-
23
-
-
0023922039
-
Follow-up of 30 Klinefelter males treated with testosterone
-
Nielsen J, Pelsen B, Sorensen K. Follow-up of 30 Klinefelter males treated with testosterone. Clin Genet 1988; 33: 262-269.
-
(1988)
Clin Genet
, vol.33
, pp. 262-269
-
-
Nielsen, J.1
Pelsen, B.2
Sorensen, K.3
-
24
-
-
33646059921
-
Morbidity in Klinefelter syndrome: A Danish register study based on hospital discharge diagnoses
-
Bojesen A, Juul S, Birkebaek NH, Gravholt CH. Morbidity in Klinefelter syndrome: a Danish register study based on hospital discharge diagnoses. J Clin Endocr Metab 2006; 91: 1254-1260.
-
(2006)
J Clin Endocr Metab
, vol.91
, pp. 1254-1260
-
-
Bojesen, A.1
Juul, S.2
Birkebaek, N.H.3
Gravholt, C.H.4
-
25
-
-
77956742001
-
Assessing the risks and benefits of diagnosing genetic conditions with variable phenotypes through population screening: Klinefelter syndrome as an example
-
Herlihy AS, Halliday J, McLachlan RI, et al. Assessing the risks and benefits of diagnosing genetic conditions with variable phenotypes through population screening: Klinefelter syndrome as an example. J Community Genet 2010; 1: 41-46.
-
(2010)
J Community Genet
, vol.1
, pp. 41-46
-
-
Herlihy, A.S.1
Halliday, J.2
McLachlan, R.I.3
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