-
1
-
-
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
-
2
-
-
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
-
3
-
-
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
-
4
-
-
79955524082
-
Morbidity and mortality in Klinefelter syndrome (47,XXY)
-
Bojesen A, Gravholt CH. Morbidity and mortality in Klinefelter syndrome (47,XXY). Acta Paediatr. 2011 ; 100: 807-813
-
(2011)
Acta Paediatr
, vol.100
, pp. 807-813
-
-
Bojesen, A.1
Gravholt, C.H.2
-
5
-
-
40449140662
-
Cognitive and motor development during childhood in boys with Klinefelter syndrome
-
Ross JL, Roeltgen DP, Stefanatos G, et al. Cognitive and motor development during childhood in boys with Klinefelter syndrome. Am J Med Genet A. 2008 ; 146A: 708-719
-
(2008)
Am J Med Genet A
, vol.146
, pp. 708-719
-
-
Ross, J.L.1
Roeltgen, D.P.2
Stefanatos, G.3
-
6
-
-
66049159361
-
Psychiatric characteristics in a self-selected sample of boys with Klinefelter syndrome
-
Bruining H, Swaab H, Kas M, van Engeland H. Psychiatric characteristics in a self-selected sample of boys with Klinefelter syndrome. Pediatrics. 2009 ; 123: e865 - e870
-
(2009)
Pediatrics
, vol.123
-
-
Bruining, H.1
Swaab, H.2
Kas, M.3
Van Engeland, H.4
-
7
-
-
80755128148
-
Prevalence and psychosocial correlates of depressive symptoms among adolescents and adults with Klinefelter syndrome
-
Turriff A, Levy HP, Biesecker B. Prevalence and psychosocial correlates of depressive symptoms among adolescents and adults with Klinefelter syndrome. Genet Med. 2011 ; 13: 966-972
-
(2011)
Genet Med
, vol.13
, pp. 966-972
-
-
Turriff, A.1
Levy, H.P.2
Biesecker, B.3
-
8
-
-
77953935513
-
Clinical and therapeutic aspects of Klinefelter's syndrome: Sexual function
-
Vignozzi L, Corona G, Forti G, Jannini EA, Maggi M. Clinical and therapeutic aspects of Klinefelter's syndrome: sexual function. Mol Hum Reprod. 2010 ; 16: 418-424
-
(2010)
Mol Hum Reprod
, vol.16
, pp. 418-424
-
-
Vignozzi, L.1
Corona, G.2
Forti, G.3
Jannini, E.A.4
Maggi, M.5
-
9
-
-
84864478607
-
It's not all about the testes: Medical issues in Klinefelter patients
-
Sokol RZ. It's not all about the testes: medical issues in Klinefelter patients. Fertil Steril. 2012 ; 98: 261-265
-
(2012)
Fertil Steril
, vol.98
, pp. 261-265
-
-
Sokol, R.Z.1
-
10
-
-
79955489888
-
Body composition, metabolic syndrome and type 2 diabetes in Klinefelter syndrome
-
Gravholt CH, Jensen AS, Høst C, Bojesen A. Body composition, metabolic syndrome and type 2 diabetes in Klinefelter syndrome. Acta Paediatr. 2011 ; 100: 871-877
-
(2011)
Acta Paediatr
, vol.100
, pp. 871-877
-
-
Gravholt, C.H.1
Jensen, A.S.2
Høst, C.3
Bojesen, A.4
-
12
-
-
85003166195
-
Syndrome characterized by gynecomastia aspermatogensis without a-Lyedigism and increased excretion of follicle-stimulating hormone
-
Klinefelter HF, Reifenstein EC, Albright F. Syndrome characterized by gynecomastia aspermatogensis without a-Lyedigism and increased excretion of follicle-stimulating hormone. J Clin Endocrinol Metab. 1942 ; 2: 615-627
-
(1942)
J Clin Endocrinol Metab
, vol.2
, pp. 615-627
-
-
Klinefelter, H.F.1
Reifenstein, E.C.2
Albright, F.3
-
13
-
-
29544435187
-
Natural history of seminiferous tubule degeneration in Klinefelter syndrome
-
Aksglaede L, Wikström AM, Rajpert-De Meyts E, Dunkel L, Skakkebaek NE, Juul A. Natural history of seminiferous tubule degeneration in Klinefelter syndrome. Hum Reprod Update. 2006 ; 12: 39-48
-
(2006)
Hum Reprod Update
, vol.12
, pp. 39-48
-
-
Aksglaede, L.1
Wikström, A.M.2
Rajpert-De Meyts, E.3
Dunkel, L.4
Skakkebaek, N.E.5
Juul, A.6
-
14
-
-
68149160198
-
Successful fertility treatment for Klinefelter's syndrome
-
Ramasamy R, Ricci JA, Palermo GD, Gosden LV, Rosenwaks Z, Schlegel PN. Successful fertility treatment for Klinefelter's syndrome. J Urol. 2009 ; 182: 1108-1113
-
(2009)
J Urol
, vol.182
, pp. 1108-1113
-
-
Ramasamy, R.1
Ricci, J.A.2
Palermo, G.D.3
Gosden, L.V.4
Rosenwaks, Z.5
Schlegel, P.N.6
-
15
-
-
76749101885
-
Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009?
-
Fullerton G, Hamilton M, Maheshwari A. Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009?. Hum Reprod. 2010 ; 25: 588-597
-
(2010)
Hum Reprod
, vol.25
, pp. 588-597
-
-
Fullerton, G.1
Hamilton, M.2
Maheshwari, A.3
-
16
-
-
28944450479
-
Age as a limiting factor for successful sperm retrieval in patients with nonmosaic Klinefelter's syndrome
-
Okada H, Goda K, Yamamoto Y, et al. Age as a limiting factor for successful sperm retrieval in patients with nonmosaic Klinefelter's syndrome. Fertil Steril. 2005 ; 84: 1662-1664
-
(2005)
Fertil Steril
, vol.84
, pp. 1662-1664
-
-
Okada, H.1
Goda, K.2
Yamamoto, Y.3
-
17
-
-
67651241729
-
Low semen volume in 47 adolescents and adults with 47,XXY Klinefelter or 46,XX male syndrome
-
Aksglaede L, Jørgensen N, Skakkebaek NE, Juul A. Low semen volume in 47 adolescents and adults with 47,XXY Klinefelter or 46,XX male syndrome. Int J Androl. 2009 ; 32: 376-384
-
(2009)
Int J Androl
, vol.32
, pp. 376-384
-
-
Aksglaede, L.1
Jørgensen, N.2
Skakkebaek, N.E.3
Juul, A.4
-
18
-
-
2442471709
-
Klinefelter syndrome in adolescence: Onset of puberty is associated with accelerated germ cell depletion
-
Wikström AM, Raivio T, Hadziselimovic F, Wikström S, Tuuri T, Dunkel L. Klinefelter syndrome in adolescence: onset of puberty is associated with accelerated germ cell depletion. J Clin Endocrinol Metab. 2004 ; 89: 2263-2270
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 2263-2270
-
-
Wikström, A.M.1
Raivio, T.2
Hadziselimovic, F.3
Wikström, S.4
Tuuri, T.5
Dunkel, L.6
-
19
-
-
84855871070
-
Can pubertal boys with Klinefelter syndrome benefit from spermatogonial stem cell banking?
-
Van Saen D, Gies I, De Schepper J, Tournaye H, Goossens E. Can pubertal boys with Klinefelter syndrome benefit from spermatogonial stem cell banking?. Hum Reprod. 2012 ; 27: 323-330
-
(2012)
Hum Reprod
, vol.27
, pp. 323-330
-
-
Van Saen, D.1
Gies, I.2
De Schepper, J.3
Tournaye, H.4
Goossens, E.5
-
20
-
-
84873086506
-
47,XXY Klinefelter syndrome: Clinical characteristics and age-specific recommendations for medical management
-
Aksglaede L, Link K, Giwercman A, Jørgensen N, Skakkebaek NE, Juul A. 47,XXY Klinefelter syndrome: clinical characteristics and age-specific recommendations for medical management. Am J Med Genet C Semin Med Genet. 2013 ; 163: 55-63
-
(2013)
Am J Med Genet C Semin Med Genet
, vol.163
, pp. 55-63
-
-
Aksglaede, L.1
Link, K.2
Giwercman, A.3
Jørgensen, N.4
Skakkebaek, N.E.5
Juul, A.6
-
21
-
-
84856389510
-
Clinical presentation of Klinefelter's syndrome: Differences according to age
-
Pacenza N, Pasqualini T, Gottlieb S, et al. Clinical presentation of Klinefelter's syndrome: differences according to age. Int J Endocrinol. 2012 ;: 2012-324835
-
(2012)
Int J Endocrinol
, pp. 2012-324835
-
-
Pacenza, N.1
Pasqualini, T.2
Gottlieb, S.3
-
22
-
-
79955524495
-
48,XXYY, 48,XXXY and 49,XXXXY syndromes: Not just variants of Klinefelter syndrome
-
Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P. 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatr. 2011 ; 100: 851-860
-
(2011)
Acta Paediatr
, vol.100
, pp. 851-860
-
-
Tartaglia, N.1
Ayari, N.2
Howell, S.3
D'Epagnier, C.4
Zeitler, P.5
-
23
-
-
84873093580
-
Neurocognitive variance and neurological underpinnings of the X and y chromosomal variations
-
Gropman A, Samango-Sprouse CA. Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations. Am J Med Genet C Semin Med Genet. 2013 ; 163: 35-43
-
(2013)
Am J Med Genet C Semin Med Genet
, vol.163
, pp. 35-43
-
-
Gropman, A.1
Samango-Sprouse, C.A.2
-
24
-
-
79960842468
-
The psychosocial impact of Klinefelter syndrome and factors influencing quality of life
-
Herlihy AS, McLachlan RI, Gillam L, Cock ML, Collins V, Halliday JL. The psychosocial impact of Klinefelter syndrome and factors influencing quality of life. Genet Med. 2011 ; 13: 632-642
-
(2011)
Genet Med
, vol.13
, pp. 632-642
-
-
Herlihy, A.S.1
McLachlan, R.I.2
Gillam, L.3
Cock, M.L.4
Collins, V.5
Halliday, J.L.6
-
25
-
-
79952676011
-
Consensus statement on diagnosis and clinical management of Klinefelter syndrome
-
Radicioni AF, Ferlin A, Balercia G, et al. Consensus statement on diagnosis and clinical management of Klinefelter syndrome. J Endocrinol Invest. 2010 ; 33: 839-850
-
(2010)
J Endocrinol Invest
, vol.33
, pp. 839-850
-
-
Radicioni, A.F.1
Ferlin, A.2
Balercia, G.3
-
26
-
-
69249141907
-
Comparison of adolescents with Klinefelter syndrome according to the circumstances of diagnosis: Amniocentesis versus clinical signs
-
Girardin CM, Lemyre E, Alos N, Deal C, Huot C, Van Vliet G. Comparison of adolescents with Klinefelter syndrome according to the circumstances of diagnosis: amniocentesis versus clinical signs. Horm Res. 2009 ; 72: 98-105
-
(2009)
Horm Res
, vol.72
, pp. 98-105
-
-
Girardin, C.M.1
Lemyre, E.2
Alos, N.3
Deal, C.4
Huot, C.5
Van Vliet, G.6
-
27
-
-
79955522645
-
Clinical and biological parameters in 166 boys, adolescents and adults with nonmosaic Klinefelter syndrome: A Copenhagen experience
-
Aksglaede L, Skakkebaek NE, Almstrup K, Juul A. Clinical and biological parameters in 166 boys, adolescents and adults with nonmosaic Klinefelter syndrome: a Copenhagen experience. Acta Paediatr. 2011 ; 100: 793-806
-
(2011)
Acta Paediatr
, vol.100
, pp. 793-806
-
-
Aksglaede, L.1
Skakkebaek, N.E.2
Almstrup, K.3
Juul, A.4
|