-
1
-
-
29544435187
-
Natural history of seminiferous tubule degeneration in Klinefelter syndrome
-
Aksglaede L, Wikstrom AM, Rajpert-De ME, Dunkel L, Skakkebaek NE, Juul A. 2006. Natural history of seminiferous tubule degeneration in Klinefelter syndrome. Hum Reprod Update 12:39-48.
-
(2006)
Hum Reprod Update
, vol.12
, pp. 39-48
-
-
Aksglaede, L.1
Wikstrom, A.M.2
Rajpert-De, M.E.3
Dunkel, L.4
Skakkebaek, N.E.5
Juul, A.6
-
2
-
-
33846238500
-
Primary testicular failure in Klinefelter's syndrome: The use of bivariate luteinizing hormone-testosterone reference charts
-
Aksglaede L, Andersson AM, Jorgensen N, Jensen TK, Carlsen E, McLachlan RI, Skakkebaek NE, Petersen JH, Juul A. 2007a. Primary testicular failure in Klinefelter's syndrome: The use of bivariate luteinizing hormone-testosterone reference charts. Clin Endocrinol (Oxf) 66:276-281.
-
(2007)
Clin Endocrinol (Oxf)
, vol.66
, pp. 276-281
-
-
Aksglaede, L.1
Andersson, A.M.2
Jorgensen, N.3
Jensen, T.K.4
Carlsen, E.5
McLachlan, R.I.6
Skakkebaek, N.E.7
Petersen, J.H.8
Juul, A.9
-
3
-
-
35348971374
-
High normal testosterone levels in infants with non-mosaic Klinefelter's syndrome
-
Aksglaede L, Petersen JH, Main KM, Skakkebaek NE, Juul A. 2007b. High normal testosterone levels in infants with non-mosaic Klinefelter's syndrome. Eur J Endocrinol 157:345-350.
-
(2007)
Eur J Endocrinol
, vol.157
, pp. 345-350
-
-
Aksglaede, L.1
Petersen, J.H.2
Main, K.M.3
Skakkebaek, N.E.4
Juul, A.5
-
4
-
-
38049187890
-
Normal bone mineral content but unfavourable muscle/fat ratio in Klinefelter syndrome
-
Aksglaede L, Molgaard C, Skakkebaek NE, Juul A. 2008a. Normal bone mineral content but unfavourable muscle/fat ratio in Klinefelter syndrome. Arch Dis Child 93:30-34.
-
(2008)
Arch Dis Child
, vol.93
, pp. 30-34
-
-
Aksglaede, L.1
Molgaard, C.2
Skakkebaek, N.E.3
Juul, A.4
-
5
-
-
38149011320
-
Abnormal sex chromosome constitution and longitudinal growth: Serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47, XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes
-
Aksglaede L, Skakkebaek NE, Juul A. 2008b. Abnormal sex chromosome constitution and longitudinal growth: Serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47, XXY, 47, XYY, or sex-determining region of the Y chromosome (SRY)-positive 46, XX karyotypes. J Clin Endocrinol Metab 93:169-176.
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 169-176
-
-
Aksglaede, L.1
Skakkebaek, N.E.2
Juul, A.3
-
6
-
-
78650045339
-
Changes in anti-Mullerian hormone (AMH) throughout the life span: A population-based study of 1027 healthy males from birth (cord blood) to the age of 69 years
-
Aksglaede L, Sorensen K, Boas M, Mouritsen A, Hagen CP, Jensen RB, Petersen JH, Linneberg A, Andersson AM, Main KM, Skakkebaek NE, Juul A. 2010. Changes in anti-Mullerian hormone (AMH) throughout the life span: A population-based study of 1027 healthy males from birth (cord blood) to the age of 69 years. J Clin Endocrinol Metab 95:5357-5364.
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 5357-5364
-
-
Aksglaede, L.1
Sorensen, K.2
Boas, M.3
Mouritsen, A.4
Hagen, C.P.5
Jensen, R.B.6
Petersen, J.H.7
Linneberg, A.8
Andersson, A.M.9
Main, K.M.10
Skakkebaek, N.E.11
Juul, A.12
-
7
-
-
79955522371
-
Serum concentrations of Anti-Mullerian Hormone (AMH) in 95 patients with Klinefelter syndrome with or without cryptorchidism
-
Aksglaede L, Christiansen P, Sorensen K, Boas M, Linneberg A, Main KM, Andersson AM, Skakkebaek NE, Juul A. 2011a. Serum concentrations of Anti-Mullerian Hormone (AMH) in 95 patients with Klinefelter syndrome with or without cryptorchidism. Acta Paediatr 100:839-845.
-
(2011)
Acta Paediatr
, vol.100
, pp. 839-845
-
-
Aksglaede, L.1
Christiansen, P.2
Sorensen, K.3
Boas, M.4
Linneberg, A.5
Main, K.M.6
Andersson, A.M.7
Skakkebaek, N.E.8
Juul, A.9
-
8
-
-
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. 2011b. Clinical and biological parameters in 166 boys, adolescents and adults with nonmosaic Klinefelter syndrome: A Copenhagen experience. Acta Paediatr 100:793-806.
-
(2011)
Acta Paediatr
, vol.100
, pp. 793-806
-
-
Aksglaede, L.1
Skakkebaek, N.E.2
Almstrup, K.3
Juul, A.4
-
9
-
-
84869085134
-
Detection of increased gene copy number in DNA from dried blood spot samples allows efficient screening for Klinefelter syndrome
-
Aksglaede L, Garn I, Hollegaard M, Hougaard D, Rajpert-De ME, Juul A. 2012. Detection of increased gene copy number in DNA from dried blood spot samples allows efficient screening for Klinefelter syndrome. Acta Paediatr 101:561-563.
-
(2012)
Acta Paediatr
, vol.101
, pp. 561-563
-
-
Aksglaede, L.1
Garn, I.2
Hollegaard, M.3
Hougaard, D.4
Rajpert-De, M.E.5
Juul, A.6
-
10
-
-
0030834572
-
Serum inhibin B in healthy pubertal and adolescent boys: Relation to age, stage of puberty, and follicle-stimulating hormone, luteinizing hormone, testosterone, and estradiol levels
-
Andersson AM, Juul A, Petersen JH, Muller J, Groome NP, Skakkebaek NE. 1997. Serum inhibin B in healthy pubertal and adolescent boys: Relation to age, stage of puberty, and follicle-stimulating hormone, luteinizing hormone, testosterone, and estradiol levels. J Clin Endocrinol Metab 82:3976-3981.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 3976-3981
-
-
Andersson, A.M.1
Juul, A.2
Petersen, J.H.3
Muller, J.4
Groome, N.P.5
Skakkebaek, N.E.6
-
11
-
-
79955499752
-
Insulin resistance and metabolic syndrome in prepubertal boys with Klinefelter syndrome
-
Bardsley MZ, Falkner B, Kowal K, Ross JL. 2011. Insulin resistance and metabolic syndrome in prepubertal boys with Klinefelter syndrome. Acta Paediatr 100:866-870.
-
(2011)
Acta Paediatr
, vol.100
, pp. 866-870
-
-
Bardsley, M.Z.1
Falkner, B.2
Kowal, K.3
Ross, J.L.4
-
12
-
-
36249003310
-
Establishment of testicular endocrine function impairment during childhood and puberty in boys with Klinefelter syndrome
-
Bastida MG, Rey RA, Bergada I, Bedecarras P, Andreone L, del Rey G, Boywitt A, Ropelato MG, Cassinelli H, Arcari A, Campo S, Gottlieb S. 2007. Establishment of testicular endocrine function impairment during childhood and puberty in boys with Klinefelter syndrome. Clin Endocrinol (Oxf) 67:863-870.
-
(2007)
Clin Endocrinol (Oxf)
, vol.67
, pp. 863-870
-
-
Bastida, M.G.1
Rey, R.A.2
Bergada, I.3
Bedecarras, P.4
Andreone, L.5
del Rey, G.6
Boywitt, A.7
Ropelato, M.G.8
Cassinelli, H.9
Arcari, A.10
Campo, S.11
Gottlieb, S.12
-
13
-
-
21244461989
-
Insulin-like factor 3 (INSL3) serum levels in 135 normal men and 85 men with testicular disorders: Relationship to the LH-testosterone axis
-
Bay K, Hartung S, Ivell R, Schumacher M, Jurgensen D, Jorgensen N, Holm M, Skakkebaek N, Andersson AM. 2005. Insulin-like factor 3 (INSL3) serum levels in 135 normal men and 85 men with testicular disorders: Relationship to the LH-testosterone axis. J Clin Endocrinol Metab 90:3410-3418.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 3410-3418
-
-
Bay, K.1
Hartung, S.2
Ivell, R.3
Schumacher, M.4
Jurgensen, D.5
Jorgensen, N.6
Holm, M.7
Skakkebaek, N.8
Andersson, A.M.9
-
14
-
-
67650289869
-
Hypothyroidism secondary to hypothalamic-pituitary dysfunction may be part of the phenotype in klinefelter syndrome: A case-control study
-
Bjorn AM, Bojesen A, Gravholt CH, Laurberg P. 2009. Hypothyroidism secondary to hypothalamic-pituitary dysfunction may be part of the phenotype in klinefelter syndrome: A case-control study. J Clin Endocrinol Metab 94:2478-2481.
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 2478-2481
-
-
Bjorn, A.M.1
Bojesen, A.2
Gravholt, C.H.3
Laurberg, P.4
-
15
-
-
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.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 622-626
-
-
Bojesen, A.1
Juul, S.2
Gravholt, C.H.3
-
17
-
-
33646059921
-
Morbidity in Klinefelter syndrome: A Danish register study based on hospital discharge diagnoses
-
Bojesen A, Juul S, Birkebaek NH, Gravholt CH. 2006a. Morbidity in Klinefelter syndrome: A Danish register study based on hospital discharge diagnoses. J Clin Endocrinol Metab 91:1254-1260.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 1254-1260
-
-
Bojesen, A.1
Juul, S.2
Birkebaek, N.H.3
Gravholt, C.H.4
-
18
-
-
33746449629
-
The metabolic syndrome is frequent in klinefelter's syndrome and is associated with abdominal obesity and hypogonadism
-
Bojesen A, Kristensen K, Birkebaek NH, Fedder J, Mosekilde L, Bennett P, Laurberg P, Frystyk J, Flyvbjerg A, Christiansen JS, Gravholt CH. 2006b. The metabolic syndrome is frequent in klinefelter's syndrome and is associated with abdominal obesity and hypogonadism. Diabetes Care 29:1591-1598.
-
(2006)
Diabetes Care
, vol.29
, pp. 1591-1598
-
-
Bojesen, A.1
Kristensen, K.2
Birkebaek, N.H.3
Fedder, J.4
Mosekilde, L.5
Bennett, P.6
Laurberg, P.7
Frystyk, J.8
Flyvbjerg, A.9
Christiansen, J.S.10
Gravholt, C.H.11
-
19
-
-
79955472500
-
Bone mineral density in Klinefelter syndrome is reduced and primarily determined by muscle strength and resorptive markers, but not directly by testosterone
-
Bojesen A, Birkebaek N, Kristensen K, Heickendorff L, Mosekilde L, Christiansen JS, Gravholt CH. 2010. Bone mineral density in Klinefelter syndrome is reduced and primarily determined by muscle strength and resorptive markers, but not directly by testosterone. Osteoporos Int 22:1441-1450.
-
(2010)
Osteoporos Int
, vol.22
, pp. 1441-1450
-
-
Bojesen, A.1
Birkebaek, N.2
Kristensen, K.3
Heickendorff, L.4
Mosekilde, L.5
Christiansen, J.S.6
Gravholt, C.H.7
-
21
-
-
79953837868
-
Assessment of Leydig and Sertoli cell functions in infants with nonmosaic Klinefelter syndrome: Insulin-like peptide 3 levels are normal and positively correlated with LH levels
-
Cabrol S, Ross JL, Fennoy I, Bouvattier C, Roger M, Lahlou N. 2011. Assessment of Leydig and Sertoli cell functions in infants with nonmosaic Klinefelter syndrome: Insulin-like peptide 3 levels are normal and positively correlated with LH levels. J Clin Endocrinol Metab 96:e746-e753.
-
(2011)
J Clin Endocrinol Metab
, vol.96
-
-
Cabrol, S.1
Ross, J.L.2
Fennoy, I.3
Bouvattier, C.4
Roger, M.5
Lahlou, N.6
-
22
-
-
0037326355
-
Longitudinal studies of inhibin B levels in boys and young adults with Klinefelter syndrome
-
Christiansen P, Andersson AM, Skakkebaek NE. 2003. Longitudinal studies of inhibin B levels in boys and young adults with Klinefelter syndrome. J Clin Endocrinol Metab 88:888-891.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 888-891
-
-
Christiansen, P.1
Andersson, A.M.2
Skakkebaek, N.E.3
-
24
-
-
0022036826
-
Sex chromosome variations in school-age children
-
Cohen FL, Durham JD. 1985. Sex chromosome variations in school-age children. J Sch Health 55:99-102.
-
(1985)
J Sch Health
, vol.55
, pp. 99-102
-
-
Cohen, F.L.1
Durham, J.D.2
-
25
-
-
84555203650
-
Profiling insulin like factor 3 (INSL3) signaling in human osteoblasts
-
Ferlin A, Perilli L, Gianesello L, Taglialavoro G, Foresta C. 2011a. Profiling insulin like factor 3 (INSL3) signaling in human osteoblasts. PLoS ONE 6:e29733.
-
(2011)
PLoS ONE
, vol.6
-
-
Ferlin, A.1
Perilli, L.2
Gianesello, L.3
Taglialavoro, G.4
Foresta, C.5
-
26
-
-
79953866977
-
Bone mass in subjects with Klinefelter syndrome: Role of testosterone levels and androgen receptor gene CAG polymorphism
-
Ferlin A, Schipilliti M, Vinanzi C, Garolla A, Di Mambro A, Selice R, Lenzi A, Foresta C. 2011b. Bone mass in subjects with Klinefelter syndrome: Role of testosterone levels and androgen receptor gene CAG polymorphism. J Clin Endocrinol Metab 96:739-745.
-
(2011)
J Clin Endocrinol Metab
, vol.96
, pp. 739-745
-
-
Ferlin, A.1
Schipilliti, M.2
Vinanzi, C.3
Garolla, A.4
Di Mambro, A.5
Selice, R.6
Lenzi, A.7
Foresta, C.8
-
27
-
-
79955506265
-
Bone density and risk of osteoporosis in Klinefelter syndrome
-
Ferlin A, Schipilliti M, Foresta C. 2011c. Bone density and risk of osteoporosis in Klinefelter syndrome. Acta Paediatr 100:878-884.
-
(2011)
Acta Paediatr
, vol.100
, pp. 878-884
-
-
Ferlin, A.1
Schipilliti, M.2
Foresta, C.3
-
28
-
-
0023148432
-
Osteoporosis in men with idiopathic hypogonadotropic hypogonadism
-
Finkelstein JS, Klibanski A, Neer RM, Greenspan SL, Rosenthal DI, Crowley WF Jr. 1987. Osteoporosis in men with idiopathic hypogonadotropic hypogonadism. Ann Intern Med 106:354-361.
-
(1987)
Ann Intern Med
, vol.106
, pp. 354-361
-
-
Finkelstein, J.S.1
Klibanski, A.2
Neer, R.M.3
Greenspan, S.L.4
Rosenthal, D.I.5
Crowley Jr., W.F.6
-
29
-
-
16644365935
-
A novel circulating hormone of testis origin in humans
-
Foresta C, Bettella A, Vinanzi C, Dabrilli P, Meriggiola MC, Garolla A, Ferlin A. 2004. A novel circulating hormone of testis origin in humans. J Clin Endocrinol Metab 89:5952-5958.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 5952-5958
-
-
Foresta, C.1
Bettella, A.2
Vinanzi, C.3
Dabrilli, P.4
Meriggiola, M.C.5
Garolla, A.6
Ferlin, A.7
-
30
-
-
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 VG. 2009. Comparison of adolescents with Klinefelter syndrome according to the circumstances of diagnosis: Amniocentesis versus clinical signs. Horm Res 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, V.G.6
-
31
-
-
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, Cock M, Gillam L. 2010. Assessing the risks and benefits of diagnosing genetic conditions with variable phenotypes through population screening: Klinefelter syndrome as an example. J Commun Genet 1:41-46.
-
(2010)
J Commun Genet
, vol.1
, pp. 41-46
-
-
Herlihy, A.S.1
Halliday, J.2
McLachlan, R.I.3
Cock, M.4
Gillam, L.5
-
33
-
-
0026542205
-
Osteoporosis and Klinefelter's syndrome
-
Horowitz M, Wishart JM, O'Loughlin PD, Morris HA, Need AG, Nordin BE. 1992. Osteoporosis and Klinefelter's syndrome. Clin Endocrinol (Oxf) 36:113-118.
-
(1992)
Clin Endocrinol (Oxf)
, vol.36
, pp. 113-118
-
-
Horowitz, M.1
Wishart, J.M.2
O'Loughlin, P.D.3
Morris, H.A.4
Need, A.G.5
Nordin, B.E.6
-
34
-
-
84873098268
-
Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: A technical validation study
-
Epub ahead of print].
-
Inaba Y, Herlihy AS, Schwartz CE, Skinner C, Bui QM, Cobb J, Shi EZ, Francis D, Arvaj A, Amor DJ, Pope K, Wotton T, Cohen J, Hewitt JK, Hagerman RJ, Metcalfe SA, Hopper JL, Loesch DZ, Slater HR, Godler DE. 2012. Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: A technical validation study. Genet Med [Epub ahead of print].
-
(2012)
Genet Med
-
-
Inaba, Y.1
Herlihy, A.S.2
Schwartz, C.E.3
Skinner, C.4
Bui, Q.M.5
Cobb, J.6
Shi, E.Z.7
Francis, D.8
Arvaj, A.9
Amor, D.J.10
Pope, K.11
Wotton, T.12
Cohen, J.13
Hewitt, J.K.14
Hagerman, R.J.15
Metcalfe, S.A.16
Hopper, J.L.17
Loesch, D.Z.18
Slater, H.R.19
Godler, D.E.20
more..
-
35
-
-
85003166195
-
Syndrome characterized by gynecomastia, aspermatogenesis without A-Leydigism, and increased excretion of follicle-stimulating hormone
-
Klinefelter HF, Reifenstein EC, Albright F. 1942. Syndrome characterized by gynecomastia, aspermatogenesis without A-Leydigism, and increased excretion of follicle-stimulating hormone. J Clin Endocrinol 2:615-627.
-
(1942)
J Clin Endocrinol
, vol.2
, pp. 615-627
-
-
Klinefelter, H.F.1
Reifenstein, E.C.2
Albright, F.3
-
36
-
-
1942472654
-
Inhibin B and anti-Mullerian hormone, but not testosterone levels, are normal in infants with nonmosaic Klinefelter syndrome
-
Lahlou N, Fennoy I, Carel JC, Roger M. 2004. Inhibin B and anti-Mullerian hormone, but not testosterone levels, are normal in infants with nonmosaic Klinefelter syndrome. J Clin Endocrinol Metab 89:1864-1868.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 1864-1868
-
-
Lahlou, N.1
Fennoy, I.2
Carel, J.C.3
Roger, M.4
-
38
-
-
0036159351
-
Early postnatal treatment of hypogonadotropic hypogonadism with recombinant human FSH and LH
-
Main KM, Schmidt IM, Toppari J, Skakkebaek NE. 2002. Early postnatal treatment of hypogonadotropic hypogonadism with recombinant human FSH and LH. Eur J Endocrinol 146:75-79.
-
(2002)
Eur J Endocrinol
, vol.146
, pp. 75-79
-
-
Main, K.M.1
Schmidt, I.M.2
Toppari, J.3
Skakkebaek, N.E.4
-
39
-
-
0025562607
-
Follow-up of 25 unselected children with sex chromosome abnormalities to age 12
-
Nielsen J. 1990. Follow-up of 25 unselected children with sex chromosome abnormalities to age 12. Birth Defects Orig Artic Ser 26:201-207.
-
(1990)
Birth Defects Orig Artic Ser
, vol.26
, pp. 201-207
-
-
Nielsen, J.1
-
40
-
-
0023261248
-
Follow-up 20 years later of 34 Klinefelter males with karyotype 47,XXY and 16 hypogonadal males with karyotype 46,XY
-
Nielsen J, Pelsen B. 1987. Follow-up 20 years later of 34 Klinefelter males with karyotype 47, XXY and 16 hypogonadal males with karyotype 46, XY. Hum Genet 77:188-192.
-
(1987)
Hum Genet
, vol.77
, pp. 188-192
-
-
Nielsen, J.1
Pelsen, B.2
-
41
-
-
0025542292
-
Sex chromosome abnormalities found among 34,910 newborn children: Results from a 13-year incidence study in Arhus, Denmark
-
Nielsen J, Wohlert M. 1990. Sex chromosome abnormalities found among 34, 910 newborn children: Results from a 13-year incidence study in Arhus, Denmark. Birth Defects Orig Artic Ser 26:209-223.
-
(1990)
Birth Defects Orig Artic Ser
, vol.26
, pp. 209-223
-
-
Nielsen, J.1
Wohlert, M.2
-
42
-
-
77951758776
-
Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy
-
Ottesen AM, Aksglaede L, Garn I, Tartaglia N, Tassone F, Gravholt CH, Bojesen A, Sorensen K, Jorgensen N, Rajpert-De ME, Gerdes T, Lind AM, Kjaergaard S, Juul A. 2010. Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy. Am J Med Genet Part A 152A:1206-1212.
-
(2010)
Am J Med Genet Part A
, vol.152 A
, pp. 1206-1212
-
-
Ottesen, A.M.1
Aksglaede, L.2
Garn, I.3
Tartaglia, N.4
Tassone, F.5
Gravholt, C.H.6
Bojesen, A.7
Sorensen, K.8
Jorgensen, N.9
Rajpert-De, M.E.10
Gerdes, T.11
Lind, A.M.12
Kjaergaard, S.13
Juul, A.14
-
43
-
-
0030788199
-
FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes
-
Rao E, Weiss B, Fukami M, Mertz A, Meder J, Ogata T, Heinrich U, Garcia-Heras J, Schiebel K, Rappold GA. 1997a. FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes. Hum Genet 100:236-239.
-
(1997)
Hum Genet
, vol.100
, pp. 236-239
-
-
Rao, E.1
Weiss, B.2
Fukami, M.3
Mertz, A.4
Meder, J.5
Ogata, T.6
Heinrich, U.7
Garcia-Heras, J.8
Schiebel, K.9
Rappold, G.A.10
-
44
-
-
0030940217
-
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
-
Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA. 1997b. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 16:54-63.
-
(1997)
Nat Genet
, vol.16
, pp. 54-63
-
-
Rao, E.1
Weiss, B.2
Fukami, M.3
Rump, A.4
Niesler, B.5
Mertz, A.6
Muroya, K.7
Binder, G.8
Kirsch, S.9
Winkelmann, M.10
Nordsiek, G.11
Heinrich, U.12
Breuning, M.H.13
Ranke, M.B.14
Rosenthal, A.15
Ogata, T.16
Rappold, G.A.17
-
45
-
-
84864573684
-
New roles of SHOX as regulator of target genes
-
Rappold GA, Durand C, Decker E, Marchini A, Schneider KU. 2012. New roles of SHOX as regulator of target genes. Pediatr Endocrinol Rev 9:733-738.
-
(2012)
Pediatr Endocrinol Rev
, vol.9
, pp. 733-738
-
-
Rappold, G.A.1
Durand, C.2
Decker, E.3
Marchini, A.4
Schneider, K.U.5
-
46
-
-
0020450574
-
The sexual development of boys with the chromosome constitution 47, XXY (Klinefelter's syndrome)
-
Ratcliffe SG. 1982. The sexual development of boys with the chromosome constitution 47, XXY (Klinefelter's syndrome). Clin Endocrinol Metab 11:703-716.
-
(1982)
Clin Endocrinol Metab
, vol.11
, pp. 703-716
-
-
Ratcliffe, S.G.1
-
47
-
-
0032988159
-
Long-term outcome in children of sex chromosome abnormalities
-
Ratcliffe S. 1999. Long-term outcome in children of sex chromosome abnormalities. Arch Dis Child 80:192-195.
-
(1999)
Arch Dis Child
, vol.80
, pp. 192-195
-
-
Ratcliffe, S.1
-
48
-
-
0025551161
-
Edinburgh study of growth and development of children with sex chromosome abnormalities. IV
-
Ratcliffe SG, Butler GE, Jones M. 1990. Edinburgh study of growth and development of children with sex chromosome abnormalities. IV. Birth Defects Orig Artic Ser 26:1-44.
-
(1990)
Birth Defects Orig Artic Ser
, vol.26
, pp. 1-44
-
-
Ratcliffe, S.G.1
Butler, G.E.2
Jones, M.3
-
49
-
-
23944475054
-
Early androgen deficiency in infants and young boys with 47,XXY Klinefelter syndrome
-
Ross JL, Samango-Sprouse C, Lahlou N, Kowal K, Elder FF, Zinn A. 2005. Early androgen deficiency in infants and young boys with 47, XXY Klinefelter syndrome. Horm Res 64:39-45.
-
(2005)
Horm Res
, vol.64
, pp. 39-45
-
-
Ross, J.L.1
Samango-Sprouse, C.2
Lahlou, N.3
Kowal, K.4
Elder, F.F.5
Zinn, A.6
-
50
-
-
40449140662
-
Cognitive and motor development during childhood in boys with Klinefelter syndrome
-
Ross JL, Roeltgen DP, Stefanatos G, Benecke R, Zeger MP, Kushner H, Ramos P, Elder FF, Zinn AR. 2008. Cognitive and motor development during childhood in boys with Klinefelter syndrome. Am J Med Genet Part A 146A:708-719.
-
(2008)
Am J Med Genet Part A
, vol.146 A
, pp. 708-719
-
-
Ross, J.L.1
Roeltgen, D.P.2
Stefanatos, G.3
Benecke, R.4
Zeger, M.P.5
Kushner, H.6
Ramos, P.7
Elder, F.F.8
Zinn, A.R.9
-
51
-
-
33750807910
-
Rheumatic diseases and Klinefelter's syndrome
-
Rovensky J. 2006. Rheumatic diseases and Klinefelter's syndrome. Autoimmun Rev 6:33-36.
-
(2006)
Autoimmun Rev
, vol.6
, pp. 33-36
-
-
Rovensky, J.1
-
52
-
-
0028843850
-
Intelligence and achievement in children with extra X aneuploidy: A longitudinal perspective
-
Rovet J, Netley C, Bailey J, Keenan M, Stewart D. 1995. Intelligence and achievement in children with extra X aneuploidy: A longitudinal perspective. Am J Med Genet Part A 60A:356-363.
-
(1995)
Am J Med Genet Part A
, vol.60 A
, pp. 356-363
-
-
Rovet, J.1
Netley, C.2
Bailey, J.3
Keenan, M.4
Stewart, D.5
-
53
-
-
0030093046
-
The psychoeducational profile of boys with Klinefelter syndrome
-
Rovet J, Netley C, Keenan M, Bailey J, Stewart D. 1996. The psychoeducational profile of boys with Klinefelter syndrome. J Learn Disabil 29:180-196.
-
(1996)
J Learn Disabil
, vol.29
, pp. 180-196
-
-
Rovet, J.1
Netley, C.2
Keenan, M.3
Bailey, J.4
Stewart, D.5
-
54
-
-
0022002973
-
Pituitary-gonadal function in Klinefelter syndrome before and during puberty
-
Salbenblatt JA, Bender BG, Puck MH, Robinson A, Faiman C, Winter JS. 1985. Pituitary-gonadal function in Klinefelter syndrome before and during puberty. Pediatr Res 19:82-86.
-
(1985)
Pediatr Res
, vol.19
, pp. 82-86
-
-
Salbenblatt, J.A.1
Bender, B.G.2
Puck, M.H.3
Robinson, A.4
Faiman, C.5
Winter, J.S.6
-
55
-
-
65849285253
-
Autoimmunity and Klinefelter's syndrome: When men have two X chromosomes
-
Sawalha AH, Harley JB, Scofield RH. 2009. Autoimmunity and Klinefelter's syndrome: When men have two X chromosomes. J Autoimmun 33:31-34.
-
(2009)
J Autoimmun
, vol.33
, pp. 31-34
-
-
Sawalha, A.H.1
Harley, J.B.2
Scofield, R.H.3
-
56
-
-
0016172825
-
Growth and body proportions in 54 boys and men with Klinefelter's syndrome
-
Schibler D, Brook CG, Kind HP, Zachmann M, Prader A. 1974. Growth and body proportions in 54 boys and men with Klinefelter's syndrome. Helv Paediatr Acta 29:325-333.
-
(1974)
Helv Paediatr Acta
, vol.29
, pp. 325-333
-
-
Schibler, D.1
Brook, C.G.2
Kind, H.P.3
Zachmann, M.4
Prader, A.5
-
58
-
-
0016175389
-
Body proportions and androgenicity in relation to plasma testosterone levels in Klinefelter's syndrome
-
Smals AG, Kloppenborg PW, Benraad TJ. 1974. Body proportions and androgenicity in relation to plasma testosterone levels in Klinefelter's syndrome. Acta Endocrinol (Copenh) 77:387-400.
-
(1974)
Acta Endocrinol (Copenh)
, vol.77
, pp. 387-400
-
-
Smals, A.G.1
Kloppenborg, P.W.2
Benraad, T.J.3
-
59
-
-
0026656886
-
Physical and mental development of adolescent males with Klinefelter syndrome
-
Sorensen K. 1992. Physical and mental development of adolescent males with Klinefelter syndrome. Horm Res 37:55-61.
-
(1992)
Horm Res
, vol.37
, pp. 55-61
-
-
Sorensen, K.1
-
60
-
-
38149030688
-
Klinefelter's syndrome: Clinical and hormonal aspects
-
Stewart JS, Mack WS, Govan AD, Ferguson-Smith MA, Lennox B. 1959. Klinefelter's syndrome: Clinical and hormonal aspects. Q J Med 28:561-571.
-
(1959)
Q J Med
, vol.28
, pp. 561-571
-
-
Stewart, J.S.1
Mack, W.S.2
Govan, A.D.3
Ferguson-Smith, M.A.4
Lennox, B.5
-
61
-
-
0020443565
-
Summary of clinical findings of children with 47,XXY,47,XYY, and 47,XXX karyotypes
-
Stewart DA, Netley CT, Park E. 1982. Summary of clinical findings of children with 47, XXY, 47, XYY, and 47, XXX karyotypes. Birth Defects Orig Artic Ser 18:1-5.
-
(1982)
Birth Defects Orig Artic Ser
, vol.18
, pp. 1-5
-
-
Stewart, D.A.1
Netley, C.T.2
Park, E.3
-
62
-
-
84857850471
-
Criminality in men with Klinefelter's syndrome and XYY syndrome: A cohort study
-
Stochholm K, Bojesen A, Jensen AS, Juul S, Gravholt CH. 2012. Criminality in men with Klinefelter's syndrome and XYY syndrome: A cohort study. BMJ Open 2:e000650.
-
(2012)
BMJ Open
, vol.2
-
-
Stochholm, K.1
Bojesen, A.2
Jensen, A.S.3
Juul, S.4
Gravholt, C.H.5
-
63
-
-
0035023397
-
Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: A cohort study
-
Swerdlow AJ, Hermon C, Jacobs PA, Alberman E, Beral V, Daker M, Fordyce A, Youings S. 2001. Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: A cohort study. Ann Hum Genet 65:177-188.
-
(2001)
Ann Hum Genet
, vol.65
, pp. 177-188
-
-
Swerdlow, A.J.1
Hermon, C.2
Jacobs, P.A.3
Alberman, E.4
Beral, V.5
Daker, M.6
Fordyce, A.7
Youings, S.8
-
64
-
-
28744448247
-
Mortality in patients with Klinefelter syndrome in Britain: A cohort study
-
Swerdlow AJ, Higgins CD, Schoemaker MJ, Wright AF, Jacobs PA. 2005a. Mortality in patients with Klinefelter syndrome in Britain: A cohort study. J Clin Endocrinol Metab 90:6516-6522.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 6516-6522
-
-
Swerdlow, A.J.1
Higgins, C.D.2
Schoemaker, M.J.3
Wright, A.F.4
Jacobs, P.A.5
-
65
-
-
23844435408
-
Cancer incidence and mortality in men with Klinefelter syndrome: A cohort study
-
Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA. 2005b. Cancer incidence and mortality in men with Klinefelter syndrome: A cohort study. J Natl Cancer Inst 97:1204-1210.
-
(2005)
J Natl Cancer Inst
, vol.97
, pp. 1204-1210
-
-
Swerdlow, A.J.1
Schoemaker, M.J.2
Higgins, C.D.3
Wright, A.F.4
Jacobs, P.A.5
-
66
-
-
70449282646
-
Genes on the Y chromosome influencing rate of maturation in man: Skeletal age studies in children with Klinefelter's (XXY) and Turner's (XO) syndromes
-
Tanner JM, Prader A, Habich H, Ferguson-Smith MA. 1959. Genes on the Y chromosome influencing rate of maturation in man: Skeletal age studies in children with Klinefelter's (XXY) and Turner's (XO) syndromes. Lancet 2:141-144.
-
(1959)
Lancet
, vol.2
, pp. 141-144
-
-
Tanner, J.M.1
Prader, A.2
Habich, H.3
Ferguson-Smith, M.A.4
-
67
-
-
0017047340
-
Relative importance of growth hormone and sex steroids for the growth at puberty of trunk length, limb length, and muscle width in growth hormone-deficient children
-
Tanner JM, Whitehouse RH, Hughes PC, Carter BS. 1976. Relative importance of growth hormone and sex steroids for the growth at puberty of trunk length, limb length, and muscle width in growth hormone-deficient children. J Pediatr 89:1000-1008.
-
(1976)
J Pediatr
, vol.89
, pp. 1000-1008
-
-
Tanner, J.M.1
Whitehouse, R.H.2
Hughes, P.C.3
Carter, B.S.4
-
69
-
-
0019975302
-
Puberty in 24 patients with Klinefelter syndrome
-
Topper E, Dickerman Z, Prager-Lewin R, Kaufman H, Maimon Z, Laron Z. 1982. Puberty in 24 patients with Klinefelter syndrome. Eur J Pediatr 139:8-12.
-
(1982)
Eur J Pediatr
, vol.139
, pp. 8-12
-
-
Topper, E.1
Dickerman, Z.2
Prager-Lewin, R.3
Kaufman, H.4
Maimon, Z.5
Laron, Z.6
-
70
-
-
0030317035
-
Cytogenetics of infertile men
-
Van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P, Van Steirteghem A, Liebaers I. 1996. Cytogenetics of infertile men. Hum Reprod 11:1-24.
-
(1996)
Hum Reprod
, vol.11
, pp. 1-24
-
-
Van Assche, E.1
Bonduelle, M.2
Tournaye, H.3
Joris, H.4
Verheyen, G.5
Devroey, P.6
Van Steirteghem, A.7
Liebaers, I.8
-
71
-
-
33750589017
-
Klinefelter's syndrome (karyotype 47,XXY) and schizophrenia-spectrum pathology
-
Van RS, Alema A, Swaab H, Kahn R. 2006a. Klinefelter's syndrome (karyotype 47, XXY) and schizophrenia-spectrum pathology. Br J Psychiatry 189:459-460.
-
(2006)
Br J Psychiatry
, vol.189
, pp. 459-460
-
-
Van, R.S.1
Alema, A.2
Swaab, H.3
Kahn, R.4
-
72
-
-
33747489673
-
X Chromosomal effects on social cognitive processing and emotion regulation: A study with Klinefelter men (47,XXY)
-
Van RS, Swaab H, Aleman A, Kahn RS. 2006b. X Chromosomal effects on social cognitive processing and emotion regulation: A study with Klinefelter men (47, XXY). Schizophr Res 84:194-203.
-
(2006)
Schizophr Res
, vol.84
, pp. 194-203
-
-
Van, R.S.1
Swaab, H.2
Aleman, A.3
Kahn, R.S.4
-
73
-
-
35448975490
-
What it is said versus how it is said: Comprehension of affective prosody in men with Klinefelter (47,XXY) syndrome
-
Van RS, Aleman A, Swaab H, Krijn T, Vingerhoets G, Kahn R. 2007. What it is said versus how it is said: Comprehension of affective prosody in men with Klinefelter (47, XXY) syndrome. J Int Neuropsychol Soc 13:1065-1070.
-
(2007)
J Int Neuropsychol Soc
, vol.13
, pp. 1065-1070
-
-
Van, R.S.1
Aleman, A.2
Swaab, H.3
Krijn, T.4
Vingerhoets, G.5
Kahn, R.6
-
74
-
-
43049146124
-
Effects of an extra X chromosome on language lateralization: An fMRI study with Klinefelter men (47,XXY)
-
Van RS, Aleman A, Swaab H, Vink M, Sommer I, Kahn RS. 2008a. Effects of an extra X chromosome on language lateralization: An fMRI study with Klinefelter men (47, XXY). Schizophr Res 101:17-25.
-
(2008)
Schizophr Res
, vol.101
, pp. 17-25
-
-
Van, R.S.1
Aleman, A.2
Swaab, H.3
Vink, M.4
Sommer, I.5
Kahn, R.S.6
-
75
-
-
53949113560
-
Social behavior and autism traits in a sex chromosomal disorder: Klinefelter (47XXY) syndrome
-
Van RS, Swaab H, Aleman A, Kahn RS. 2008b. Social behavior and autism traits in a sex chromosomal disorder: Klinefelter (47XXY) syndrome. J Autism Dev Disord 38:1634-1641.
-
(2008)
J Autism Dev Disord
, vol.38
, pp. 1634-1641
-
-
Van, R.S.1
Swaab, H.2
Aleman, A.3
Kahn, R.S.4
-
76
-
-
2442471709
-
Klinefelter syndrome in adolescence: Onset of puberty is associated with accelerated germ cell depletion
-
Wikstrom AM, Raivio T, Hadziselimovic F, Wikstrom S, Tuuri T, Dunkel L. 2004. Klinefelter syndrome in adolescence: Onset of puberty is associated with accelerated germ cell depletion. J Clin Endocrinol Metab 89:2263-2270.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 2263-2270
-
-
Wikstrom, A.M.1
Raivio, T.2
Hadziselimovic, F.3
Wikstrom, S.4
Tuuri, T.5
Dunkel, L.6
-
77
-
-
33751508782
-
Serum insulin-like factor 3 levels during puberty in healthy boys and boys with Klinefelter syndrome
-
Wikstrom AM, Bay K, Hero M, Andersson AM, Dunkel L. 2006a. Serum insulin-like factor 3 levels during puberty in healthy boys and boys with Klinefelter syndrome. J Clin Endocrinol Metab 91:4705-4708.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 4705-4708
-
-
Wikstrom, A.M.1
Bay, K.2
Hero, M.3
Andersson, A.M.4
Dunkel, L.5
-
78
-
-
33746543213
-
Are adolescent boys with Klinefelter syndrome androgen deficient? A longitudinal study of Finnish 47,XXY boys
-
Wikstrom AM, Dunkel L, Wickman S, Norjavaara E, Ankarberg-Lindgren C, Raivio T. 2006b. Are adolescent boys with Klinefelter syndrome androgen deficient? A longitudinal study of Finnish 47, XXY boys. Pediatr Res 59:854-859.
-
(2006)
Pediatr Res
, vol.59
, pp. 854-859
-
-
Wikstrom, A.M.1
Dunkel, L.2
Wickman, S.3
Norjavaara, E.4
Ankarberg-Lindgren, C.5
Raivio, T.6
-
79
-
-
33846981160
-
Immunoexpression of androgen receptor and nine markers of maturation in the testes of adolescent boys with Klinefelter syndrome: Evidence for degeneration of germ cells at the onset of meiosis
-
Wikstrom AM, Hoei-Hansen CE, Dunkel L, Rajpert-De ME. 2006c. Immunoexpression of androgen receptor and nine markers of maturation in the testes of adolescent boys with Klinefelter syndrome: Evidence for degeneration of germ cells at the onset of meiosis. J Clin Endocrinol Metab 92:714-719.
-
(2006)
J Clin Endocrinol Metab
, vol.92
, pp. 714-719
-
-
Wikstrom, A.M.1
Hoei-Hansen, C.E.2
Dunkel, L.3
Rajpert-De, M.E.4
-
80
-
-
41849084831
-
Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome
-
Zeger MP, Zinn AR, Lahlou N, Ramos P, Kowal K, Samango-Sprouse C, Ross JL. 2008. Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome. J Pediatr 152:716-722.
-
(2008)
J Pediatr
, vol.152
, pp. 716-722
-
-
Zeger, M.P.1
Zinn, A.R.2
Lahlou, N.3
Ramos, P.4
Kowal, K.5
Samango-Sprouse, C.6
Ross, J.L.7
-
81
-
-
59849107125
-
Klinefelter's syndrome, a clinical and cytogenetic study in twenty-four cases
-
Zuppinger K, Engel E, Forbes AP, Mantooth L, Claffey J. 1967. Klinefelter's syndrome, a clinical and cytogenetic study in twenty-four cases. Acta Endocrinol (Copenh) 113:5.
-
(1967)
Acta Endocrinol (Copenh)
, vol.113
, pp. 5
-
-
Zuppinger, K.1
Engel, E.2
Forbes, A.P.3
Mantooth, L.4
Claffey, J.5
|