-
1
-
-
33846055706
-
Turner syndrome study group
-
Bondy CA. Turner Syndrome Study Group. J Clin Endocrinol Metab 2007; 92:10-25.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 10-25
-
-
Bondy, C.A.1
-
2
-
-
17844387823
-
Fifth International Symposium on Turner Syndrome Recommendations for the diagnosis and management of Turner syndrome
-
Saenger P, Wikland KA, Conway GS, et al; Fifth International Symposium on Turner Syndrome. Recommendations for the diagnosis and management of Turner syndrome. J Clin Endocrinol Metab 2001;86:3061-3069.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 3061-3069
-
-
Saenger, P.1
Wikland, K.A.2
Conway, G.S.3
-
3
-
-
0037342799
-
Committee on genetics, and the section on endocrinolog
-
American Academy of Pediatrics Clinical Report. Health supervision for children with Turner syndrome
-
Frias JL, Davenport ML; Committee on Genetics, and the Section on Endocrinology. American Academy of Pediatrics Clinical Report. Health supervision for children with Turner syndrome. Pediatrics 2003;111:692-702.
-
(2003)
Pediatrics
, vol.111
, pp. 692-702
-
-
Frias, J.L.1
Davenport, M.L.2
-
4
-
-
69549128470
-
ACMG professional practice and guidelines committee. ACMG Practice Guideline: Genetic evaluation of short stature
-
Seaver LH, Irons M; ACMG Professional Practice and Guidelines Committee. ACMG Practice Guideline: genetic evaluation of short stature. Genet Med 2009;11:465-470.
-
(2009)
Genet Med
, vol.11
, pp. 465-470
-
-
Seaver, L.H.1
Irons, M.2
-
5
-
-
69549128470
-
ACMG practice guideline: Genetic evaluation of short stature
-
Seaver LH, Irons M. ACMG practice guideline: genetic evaluation of short stature. Genet Med 2009:11:465-470.
-
(2009)
Genet Med
, vol.11
, pp. 465-470
-
-
Seaver, L.H.1
Irons, M.2
-
6
-
-
0032471420
-
Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1
-
Zinn AR, Tonk VS, Chen Z, et al. Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1. Am J Hum Genet 1998;63:1757-1766.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1757-1766
-
-
Zinn, A.R.1
Tonk, V.S.2
Chen, Z.3
-
8
-
-
0020634258
-
The distribution of chromosomal genotypes associated with Turner's syndrome: Livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism
-
Hook EB, Warburton D. The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet 1983;64:24-27.
-
(1983)
Hum Genet
, vol.64
, pp. 24-27
-
-
Hook, E.B.1
Warburton, D.2
-
9
-
-
0026531326
-
Mosaicism in 45,X Turner syndrome: Does survival in early pregnancy depend on the presence of two sex chromosomes?
-
Held KR, Kerber S, Kaminsky E, et al. Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes? Hum Genet 1992;88:288-294.
-
(1992)
Hum Genet
, vol.88
, pp. 288-294
-
-
Held, K.R.1
Kerber, S.2
Kaminsky, E.3
-
10
-
-
0029132291
-
Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: Implications for postnatal outcome
-
Koeberl DD, McGillivray B, Sybert VP. Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome. Am J Hum Genet 1995;57:661-666.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 661-666
-
-
Koeberl, D.D.1
McGillivray, B.2
Sybert, V.P.3
-
11
-
-
0025177372
-
The phenotype of 45,X/46,XY mosa-icism: An analysis of 92 prenatally diagnosed cases
-
Chang HJ, Clark RD, Bachman H. The phenotype of 45,X/46,XY mosa-icism: an analysis of 92 prenatally diagnosed cases. Am J Hum Genet 1990;46:156-167.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 156-167
-
-
Chang, H.J.1
Clark, R.D.2
Bachman, H.3
-
13
-
-
0031428584
-
Turner syndrome: A cytogenetic and molecular study
-
Jacobs P, Dalton P, James R, et al. Turner syndrome: a cytogenetic and molecular study. Ann Hum Genet 1997;61:471-483.
-
(1997)
Ann Hum Genet
, vol.61
, pp. 471-483
-
-
Jacobs, P.1
Dalton, P.2
James, R.3
-
15
-
-
33846055706
-
Turner Syndrome Study Group. Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group
-
Bondy CA; Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab 2007;92:10-25.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 10-25
-
-
Bondy, C.A.1
-
16
-
-
0025763762
-
The parental origin of the single X chromosome in Turner syndrome: Lack of correlation with parental age or clinical phenotype
-
Mathur A, Stekol L, Schatz D, MacLaren NK, Scott ML, Lippe B. The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype. Am J Hum Genet 1991;48:682-686.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 682-686
-
-
Mathur, A.1
Stekol, L.2
Schatz, D.3
MacLaren, N.K.4
Scott, M.L.5
Lippe, B.6
-
17
-
-
16944366964
-
Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function
-
Skuse DH, James RS, Bishop DVM, et al. Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function. Nature 1997; 387:705-708.
-
(1997)
Nature
, vol.387
, pp. 705-708
-
-
Skuse, D.H.1
James, R.S.2
Bishop, D.V.M.3
-
18
-
-
33747037485
-
Germ cell tumors in the intersex gonad: Old paths, new directions, moving frontiers
-
Cools M, Drop SL, Wolffenbuttel KP, Oosterhuis JW, Looijenga LH. Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers. Endocr Rev 2006;27:468-484.
-
(2006)
Endocr Rev
, vol.27
, pp. 468-484
-
-
Cools, M.1
Drop, S.L.2
Wolffenbuttel, K.P.3
Oosterhuis, J.W.4
Looijenga, L.H.5
-
19
-
-
0028807452
-
Gonadoblastoma: Molecular definition of the susceptibility region on the y chromosome
-
Tsuchiya K, Reijo R, Page DC, Disteche CM. Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome. Am J Hum Genet 1995;57:1400-1407.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1400-1407
-
-
Tsuchiya, K.1
Reijo, R.2
Page, D.C.3
Disteche, C.M.4
-
20
-
-
0033365196
-
Gonadoblastoma, testicular and prostate cancers, and the TSPY gene
-
Lau YF. Gonadoblastoma, testicular and prostate cancers, and the TSPY gene. Am J Hum Genet 1999;64:921-927.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 921-927
-
-
Lau, Y.F.1
-
21
-
-
0027196919
-
Detection of y chromosome sequences in Turner's syndrome by Southern blot analysis of amplified DNA
-
Kokova M, Siegel SF, Wenger SL, Lee PA, Trucco M. Detection of Y chromosome sequences in Turner's syndrome by Southern blot analysis of amplified DNA. Lancet 1993;342:140-143.
-
(1993)
Lancet
, vol.342
, pp. 140-143
-
-
Kokova, M.1
Siegel, S.F.2
Wenger, S.L.3
Lee, P.A.4
Trucco, M.5
-
22
-
-
0033709679
-
Occurrence of gonadoblas-toma in females with Turner syndrome and y chromosome material: A population study
-
Gravholt CH, Fedder J, Naeraa RW, Müller J. Occurrence of gonadoblas-toma in females with Turner syndrome and Y chromosome material: a population study. J Clin Endocrinol Metab 2000;85:3199-3202.
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 3199-3202
-
-
Gravholt, C.H.1
Fedder, J.2
Naeraa, R.W.3
Müller, J.4
-
23
-
-
0032485202
-
Frequency of y chromosomal material in Mexican patients with Ullrich-Turner syndrome
-
Lopez M, Canto P, Aguinaga M, et al. Frequency of Y chromosomal material in Mexican patients with Ullrich-Turner syndrome. Am J Med Genet 1998;76:120-124.
-
(1998)
Am J Med Genet
, vol.76
, pp. 120-124
-
-
Lopez, M.1
Canto, P.2
Aguinaga, M.3
-
24
-
-
0036822198
-
Fluorescence in situ hybridization analysis and ovarian histology of women with Turner syndrome presenting with Y-chromosomal material: A correlation between oral epithelial cells, lymphocytes and ovarian tissue
-
Hanson L, Bryman I, Janson PO, Jakobsen AM, Hanson C. Fluorescence in situ hybridization analysis and ovarian histology of women with Turner syndrome presenting with Y-chromosomal material: a correlation between oral epithelial cells, lymphocytes and ovarian tissue. Hereditas 2002;137: 1-6.
-
(2002)
Hereditas
, vol.137
, pp. 1-6
-
-
Hanson, L.1
Bryman, I.2
Janson, P.O.3
Jakobsen, A.M.4
Hanson, C.5
-
25
-
-
25644439293
-
Detection of low level sex chromosome mosaicism in Ullrich-Turner syndrome patients
-
Wiktor AE, Van Dyke DL. Detection of low level sex chromosome mosaicism in Ullrich-Turner syndrome patients. Am J Med Genet 2005;138A: 249-261.
-
(2005)
Am J Med Genet
, vol.138 A
, pp. 249-261
-
-
Wiktor, A.E.1
Van Dyke, D.L.2
-
26
-
-
0026732566
-
Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation
-
Van Dyke DL, Wiktor A, Palmer CG, Miller DA, et al. Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation. Am J Med Genet 1992;43:996-1005.
-
(1992)
Am J Med Genet
, vol.43
, pp. 996-1005
-
-
Van Dyke, D.L.1
Wiktor, A.2
Palmer, C.G.3
Miller, D.A.4
-
27
-
-
0031769116
-
Maternal serum-fetoprotein and dimeric inhibin A detect aneuploidies other than Down syndrome
-
Wenstrom KD, Chu DC, Owen J, Boots L. Maternal serum-fetoprotein and dimeric inhibin A detect aneuploidies other than Down syndrome. Am J Obstet Gynecol 1998;179:966-970.
-
(1998)
Am J Obstet Gynecol
, vol.179
, pp. 966-970
-
-
Wenstrom, K.D.1
Chu, D.C.2
Owen, J.3
Boots, L.4
-
28
-
-
0032737336
-
Turner syndrome and multiple-marker screening
-
Ruiz C, Lamm F, Hart PS. Turner syndrome and multiple-marker screening. Clin Chem 1999;45:2259-2261.
-
(1999)
Clin Chem
, vol.45
, pp. 2259-2261
-
-
Ruiz, C.1
Lamm, F.2
Hart, P.S.3
-
30
-
-
0032738324
-
Revised guidelines for the diagnosis of mosaicism in amniocytes
-
Hsu LY, Benn PA. Revised guidelines for the diagnosis of mosaicism in amniocytes. Prenat Diagn 1999;19:1081-1090.
-
(1999)
Prenat Diagn
, vol.19
, pp. 1081-1090
-
-
Hsu, L.Y.1
Benn, P.A.2
-
31
-
-
0027930370
-
Small marker X chromosomes lack the X inactivation center: Implications for karyotype/phenotype correlations
-
Wolff DJ, Brown CJ, Schwartz S, Duncan AM, Surti U, Willard HF. Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations. Am J Hum Genet 1994;55:87-95.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 87-95
-
-
Wolff, D.J.1
Brown, C.J.2
Schwartz, S.3
Duncan, A.M.4
Surti, U.5
Willard, H.F.6
-
32
-
-
20044363490
-
Gonadoblastoma in Turner syndrome and Y-chromosome-derived material
-
Mazzanti L, Cicognani A, Baldazzi L, et al. Gonadoblastoma in Turner syndrome and Y-chromosome-derived material. Am J Med Genet 2005;135: 150-154.
-
(2005)
Am J Med Genet
, vol.135
, pp. 150-154
-
-
Mazzanti, L.1
Cicognani, A.2
Baldazzi, L.3
-
33
-
-
0034058078
-
Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype
-
Turner C, Dennis NR, Skuse DH, Jacobs PA. Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype. Hum Genet 2000;106:93-100.
-
(2000)
Hum Genet
, Issue.106
, pp. 93-100
-
-
Turner, C.1
Dennis, N.R.2
Skuse, D.H.3
Jacobs, P.A.4
-
34
-
-
0033786952
-
A clinical, cytogenetic and molecular study of 47 females with r(X) chromosomes
-
Dennis N, Coppin B, Turner C, Skuse D, Jacobs PA. A clinical, cytogenetic and molecular study of 47 females with r(X) chromosomes. Ann Hum Genet 2000;64:277-293.
-
(2000)
Ann Hum Genet
, vol.64
, pp. 277-293
-
-
Dennis, N.1
Coppin, B.2
Turner, C.3
Skuse, D.4
Jacobs, P.A.5
-
35
-
-
0033785950
-
Ring-X chromosomes: Their cognitive and behavioural phenotype
-
Kuntsi J, Skuse D, Elgar K, Morris E, Turner C. Ring-X chromosomes: their cognitive and behavioural phenotype. Ann Hum Genet 2000;64:295-305.
-
(2000)
Ann Hum Genet
, vol.64
, pp. 295-305
-
-
Kuntsi, J.1
Skuse, D.2
Elgar, K.3
Morris, E.4
Turner, C.5
-
36
-
-
0027133244
-
Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes
-
Migeon BR, Luo S, Stasiowski BA, Jani M, et al. Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes. Proc Natl Acad Sci USA 1993:90:12025-12029.
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 12025-12029
-
-
Migeon, B.R.1
Luo, S.2
Stasiowski, B.A.3
Jani, M.4
-
37
-
-
33748888588
-
Issues in prenatal counseling and diagnosis in Turner syndrome
-
Loscalzo ML, Bondy CA, Beisecker B. Issues in prenatal counseling and diagnosis in Turner syndrome. Int Congr Ser 2006;1298:26-29.
-
(2006)
Int Congr ser
, vol.1298
, pp. 26-29
-
-
Loscalzo, M.L.1
Bondy, C.A.2
Beisecker, B.3
-
38
-
-
0030034016
-
Prenatal and postnatal prevalence of Turner's syndrome: A registry study
-
Gravholt CH, Juul S, Naeraa RW, Hansen J. Prenatal and postnatal prevalence of Turner's syndrome: a registry study. BMJ 1996;321:16-21. (Pubitemid 26011883)
-
(1996)
British Medical Journal
, vol.312
, Issue.7022
, pp. 16-21
-
-
Gravholt, C.H.1
Juul, S.2
Naeraa, R.W.3
Hansen, J.4
-
39
-
-
0036467258
-
Detection of Y-specific sequences in 122 patients with Turner syndrome: Nested PCR is not a reliable method
-
Nishi MY, Domenice S, Medeiros MA, Mendonca BB, Billerbeck AE. Detection of Y-specific sequences in 122 patients with Turner syndrome: nested PCR is not a reliable method. Am J Med Genet 2002;107:299-305.
-
(2002)
Am J Med Genet
, vol.107
, pp. 299-305
-
-
Nishi, M.Y.1
Domenice, S.2
Medeiros, M.A.3
Mendonca, B.B.4
Billerbeck, A.E.5
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