-
2
-
-
0037002625
-
An update on clinically applicable diagnostic criteria in Rett syndrome: Comments to Rett syndrome clinical criteria consensus panel satellite to European Paediatric Neurology Society Meeting Baden Baden, Germany, 11 September 2001
-
DOI 10.1053/ejpn.2002.0612
-
Hagberg B, Hanefeld F, Percy A, Skjeldal O,. An update on clinically applicable diagnostic criteria in Rett syndrome: comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. Eur J Paediatr Neurol. 2002; 6: 293-297. (Pubitemid 36267302)
-
(2002)
European Journal of Paediatric Neurology
, vol.6
, Issue.5
, pp. 293-297
-
-
Hagberg, B.1
Hanefeld, F.2
Percy, A.3
Skjeldal, O.4
-
3
-
-
78650903501
-
Rett syndrome: Revised diagnostic criteria and nomenclature
-
Neul JL, Kaufmann WE, Glaze DG, et al. Rett syndrome: Revised diagnostic criteria and nomenclature. Ann Neurol. 2010; 68: 944-950.
-
(2010)
Ann Neurol.
, vol.68
, pp. 944-950
-
-
Neul, J.L.1
Kaufmann, W.E.2
Glaze, D.G.3
-
4
-
-
0032830639
-
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2
-
DOI 10.1038/13810
-
Amir RE, Van den Veyer IB, Wan M, Tran CQ, Francke U, Zoghbi HY,. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999; 23: 185-188. (Pubitemid 29455390)
-
(1999)
Nature Genetics
, vol.23
, Issue.2
, pp. 185-188
-
-
Amir, R.E.1
Van Den Veyver, I.B.2
Wan, M.3
Tran, C.Q.4
Francke, U.5
Zoghbi, H.Y.6
-
5
-
-
0030734344
-
Osteopenia in Rett syndrome
-
Haas RH, Dixon SD, Sartoris DJ, Hennessy MJ,. Osteopenia in Rett syndrome. J Pediatr. 1997; 131: 771-774. (Pubitemid 27524865)
-
(1997)
Journal of Pediatrics
, vol.131
, Issue.5
, pp. 771-774
-
-
Haas, R.H.1
Dixon, S.D.2
Sartoris, D.J.3
Hannessy, M.J.4
-
6
-
-
0032940559
-
A population-based approach to the investigation of osteopenia in Rett syndrome
-
DOI 10.1017/S0012162299000717
-
Leonard H, Thomson MR, Glasson EJ, et al. A population-based approach to the investigation of osteopenia in Rett syndrome. Dev Med Child Neurol. 1999; 41: 323-328. (Pubitemid 29209589)
-
(1999)
Developmental Medicine and Child Neurology
, vol.41
, Issue.5
, pp. 323-328
-
-
Leonard, H.1
Thomson, M.R.2
Glasson, E.J.3
Fyfe, S.4
Leonard, S.5
Bower, C.6
Christodoulou, J.7
Ellaway, C.8
-
7
-
-
18044398815
-
Dual X-ray absorptiometry and bone ultrasonography in patients with Rett Syndrome
-
DOI 10.1007/s002230010027
-
Cepollaro C, Gonnelli S, Bruni D, et al. Dual X-ray absorptiometry and bone ultrasonography in patients with Rett syndrome. Calcif Tissue Int. 2001; 69: 259-262. (Pubitemid 33140934)
-
(2001)
Calcified Tissue International
, vol.69
, Issue.5
, pp. 259-262
-
-
Cepollaro, C.1
Gonnelli, S.2
Bruni, D.3
Pacini, S.4
Martini, S.5
Franci, M.B.6
Gennari, L.7
Rossi, S.8
Hayek, G.9
Zappella, M.10
Gennari, C.11
-
8
-
-
33744926433
-
Fractional calcium absorption is increased in girls with Rett syndrome
-
DOI 10.1097/01.mpg.0000189370.22288.0c, PII 0000517620060400000012
-
Motil KJ, Schultz RJ, Abrams S, Ellis KJ, Glaze DG,. Fractional calcium absorption is increased in girls with Rett syndrome. J Pediatr Gastroenterol Nutr. 2006; 42: 419-426. (Pubitemid 43841025)
-
(2006)
Journal of Pediatric Gastroenterology and Nutrition
, vol.42
, Issue.4
, pp. 419-426
-
-
Motil, K.J.1
Schultz, R.J.2
Abrams, S.3
Ellis, K.J.4
Glaze, D.G.5
-
9
-
-
33846009086
-
Osteoporosis in Rett syndrome: A study on normal values
-
DOI 10.1100/tsw.2006.266
-
Zysman L, Lotan M, Ben Zeev B,. Osteoporosis in Rett syndrome: A study on normal values. ScientificWorldJournal. 2006; 6: 1619-1630. (Pubitemid 46045429)
-
(2006)
TheScientificWorldJournal
, vol.6
, pp. 1619-1630
-
-
Zysman, L.1
Lotan, M.2
Ben-Zeev, B.3
-
10
-
-
40849120482
-
Bone ultrasonography at phalanxes in patients with Rett syndrome: A 3-year longitudinal study
-
Gonnelli S, Caffarelli C, Hayek J, et al. Bone ultrasonography at phalanxes in patients with Rett syndrome: a 3-year longitudinal study. Bone. 2008; 42: 737-742.
-
(2008)
Bone.
, vol.42
, pp. 737-742
-
-
Gonnelli, S.1
Caffarelli, C.2
Hayek, J.3
-
11
-
-
55049114903
-
Bone mineral content and bone mineral density are lower in older than in younger females with Rett syndrome
-
Motil KJ, Ellis KJ, Barrish JO, Caeg E, Glaze DG,. Bone mineral content and bone mineral density are lower in older than in younger females with Rett syndrome. Pediatr Res. 2008; 64: 435-439.
-
(2008)
Pediatr Res.
, vol.64
, pp. 435-439
-
-
Motil, K.J.1
Ellis, K.J.2
Barrish, J.O.3
Caeg, E.4
Glaze, D.G.5
-
12
-
-
77958495173
-
Bone mass in Rett syndrome: Association with clinical parameters and MECP2 mutations
-
Shapiro JR, Bibat G, Hiremath G, et al. Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations. Pediatr Res. 2010; 68: 446-451.
-
(2010)
Pediatr Res.
, vol.68
, pp. 446-451
-
-
Shapiro, J.R.1
Bibat, G.2
Hiremath, G.3
-
13
-
-
79952372107
-
Bone mineral content and density in Rett syndrome and their contributing factors
-
Jefferson AL, Woodhead HJ, Fyfe S, et al. Bone mineral content and density in Rett syndrome and their contributing factors. Pediatr Res. 2011; 69: 293-298.
-
(2011)
Pediatr Res.
, vol.69
, pp. 293-298
-
-
Jefferson, A.L.1
Woodhead, H.J.2
Fyfe, S.3
-
14
-
-
0027207093
-
The pattern of growth failure in Rett syndrome
-
Schultz RJ, Glaze DG, Motil KJ, et al. The pattern of growth failure in Rett syndrome. Am J Dis Child. 1993; 147: 633-637. (Pubitemid 23166683)
-
(1993)
American Journal of Diseases of Children
, vol.147
, Issue.6
, pp. 633-637
-
-
Schultz, R.J.1
Glaze, D.G.2
Motil, K.J.3
Armstrong, D.D.4
Del Junco, D.J.5
Hubbard, C.R.6
Percy, A.K.7
-
15
-
-
0026586120
-
New approaches for interpreting projected bone densitometry data
-
Carter DR, Bouxsein ML, Marcus R,. New approaches for interpreting projected bone densitometry data. J Bone Miner Res. 1992; 7: 137-145.
-
(1992)
J Bone Miner Res.
, vol.7
, pp. 137-145
-
-
Carter, D.R.1
Bouxsein, M.L.2
Marcus, R.3
-
16
-
-
42649110363
-
Dual Energy X-ray Absorptiometry Interpretation and Reporting in Children and Adolescents: The 2007 ISCD Pediatric Official Positions
-
DOI 10.1016/j.jocd.2007.12.005, PII S1094695007002533
-
Gordon CM, Bachrach LK, Carpenter TO, et al. Dual energy X-ray absorptiometry interpretation and reporting in children and adolescents: the 2007 ISCD Pediatric Official Positions. J Clin Densitom. 2008; 11: 43-58. (Pubitemid 351602187)
-
(2008)
Journal of Clinical Densitometry
, vol.11
, Issue.1
, pp. 43-58
-
-
Gordon, C.M.1
Bachrach, L.K.2
Carpenter, T.O.3
Crabtree, N.4
El-Hajj Fuleihan, G.5
Kutilek, S.6
Lorenc, R.S.7
Tosi, L.L.8
Ward, K.A.9
Ward, L.M.10
Kalkwarf, H.J.11
-
17
-
-
79952427818
-
Patients with Rett syndrome sustain low-energy fractures
-
Roende G, Ravn K, Fuglsang K, et al. Patients with Rett syndrome sustain low-energy fractures. Pediatr Res. 2011; 69: 359-364.
-
(2011)
Pediatr Res.
, vol.69
, pp. 359-364
-
-
Roende, G.1
Ravn, K.2
Fuglsang, K.3
-
18
-
-
0002557539
-
The Development of the Reproductive System
-
In Tanner J.M. ed. 2nd ed. Oxford, UK: Blackwell Scientific Publications Ltd.
-
Tanner JM,. The Development of the Reproductive System. In, Tanner JM, ed. Growth at Adolescence, 2nd ed. Oxford, UK: Blackwell Scientific Publications Ltd., 1962: 28-39.
-
(1962)
Growth at Adolescence
, pp. 28-39
-
-
Tanner, J.M.1
-
19
-
-
0026043656
-
Critical years and stages of puberty for spinal and femoral bone mass accumulation during adolescence
-
Bonjour JP, Theintz G, Buchs B, Slosman D, Rizzoli R,. Critical years and stages of puberty for spinal and femoral bone mass accumulation during adolescence. J Clin Endocrinol Metab. 1991; 73: 555-563. (Pubitemid 21921908)
-
(1991)
Journal of Clinical Endocrinology and Metabolism
, vol.73
, Issue.3
, pp. 555-563
-
-
Bonjour, J.-P.1
Theintz, G.2
Buchs, B.3
Slosman, D.4
Rizzoli, R.5
-
20
-
-
0031019886
-
Whole body bone mineral content in healthy children and adolescents
-
Molgaard C, Thomsen BL, Prentice A, Cole TJ, Michaelsen KF,. Whole body bone mineral content in healthy children and adolescents. Arch Dis Child. 1997; 76: 9-15. (Pubitemid 27060484)
-
(1997)
Archives of Disease in Childhood
, vol.76
, Issue.1
, pp. 9-15
-
-
Molgaard, C.1
Thomsen, B.L.2
Prentice, A.3
Cole, T.J.4
Michaelsen, K.F.5
-
21
-
-
0029121290
-
Comparison of different models for interpreting bone mineral density measurements using DXA and MRI technology
-
Kroger H, Vainio P, Nieminen J, Kotaniemi A,. Comparison of different models for interpreting bone mineral density measurements using DXA and MRI technology. Bone. 1995; 17: 157-159.
-
(1995)
Bone.
, vol.17
, pp. 157-159
-
-
Kroger, H.1
Vainio, P.2
Nieminen, J.3
Kotaniemi, A.4
-
22
-
-
0026678490
-
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
-
Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW,. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet. 1992; 51: 1229-1239. (Pubitemid 23001082)
-
(1992)
American Journal of Human Genetics
, vol.51
, Issue.6
, pp. 1229-1239
-
-
Allen, R.C.1
Zoghbi, H.Y.2
Moseley, A.B.3
Rosenblatt, H.M.4
Belmont, J.W.5
-
23
-
-
0001596964
-
Sample Size
-
In Altman D.G. ed. 1st ed. London, UK: Chapman & Hall.
-
Altman DG,. Sample Size. In, Altman DG, ed. Practical Statistics for Medical Research, 1st ed. London, UK: Chapman & Hall, 1991: 455-460.
-
(1991)
Practical Statistics for Medical Research
, pp. 455-460
-
-
Altman, D.G.1
-
24
-
-
0242456117
-
Possible mechanisms of osteopenia in Rett syndrome: Bone histomorphometric studies
-
Budden SS, Gunness ME,. Possible mechanisms of osteopenia in Rett syndrome: bone histomorphometric studies. J Child Neurol. 2003; 18: 698-702. (Pubitemid 37428068)
-
(2003)
Journal of Child Neurology
, vol.18
, Issue.10
, pp. 698-702
-
-
Budden, S.S.1
Gunness, M.E.2
-
25
-
-
67649416452
-
Mecp2 deficiency decreases bone formation and reduces bone volume in a rodent model of Rett syndrome
-
O'Connor RD, Zayzafoon M, Farach-Carson MC, Schanen NC,. Mecp2 deficiency decreases bone formation and reduces bone volume in a rodent model of Rett syndrome. Bone. 2009; 45: 346-356.
-
(2009)
Bone.
, vol.45
, pp. 346-356
-
-
O'Connor, R.D.1
Zayzafoon, M.2
Farach-Carson, M.C.3
Schanen, N.C.4
-
26
-
-
0026566390
-
Bone densitometry of the spine and femur in children by dual-energy x-ray absorptiometry
-
Kroger H, Kotaniemi A, Vainio P, Alhava E,. Bone densitometry of the spine and femur in children by dual-energy x-ray absorptiometry. Bone Miner. 1992; 17: 75-85.
-
(1992)
Bone Miner.
, vol.17
, pp. 75-85
-
-
Kroger, H.1
Kotaniemi, A.2
Vainio, P.3
Alhava, E.4
-
27
-
-
33846361109
-
UK reference data for the Hologic QDR Discovery dual-energy x ray absorptiometry scanner in healthy children and young adults aged 6-17 years
-
DOI 10.1136/adc.2006.097642
-
Ward KA, Ashby RL, Roberts SA, Adams JE, Zulf MM,. UK reference data for the Hologic QDR Discovery dual-energy x ray absorptiometry scanner in healthy children and young adults aged 6-17 years. Arch Dis Child. 2007; 92: 53-59. (Pubitemid 46132935)
-
(2007)
Archives of Disease in Childhood
, vol.92
, Issue.1
, pp. 53-59
-
-
Ward, K.A.1
Ashby, R.L.2
Roberts, S.A.3
Adams, J.E.4
Mughal, M.Z.5
-
28
-
-
77749246331
-
Height adjustment in assessing dual energy x-ray absorptiometry measurements of bone mass and density in children
-
Zemel BS, Leonard MB, Kelly A, et al. Height adjustment in assessing dual energy x-ray absorptiometry measurements of bone mass and density in children. J Clin Endocrinol Metab. 2010; 95: 1265-1273.
-
(2010)
J Clin Endocrinol Metab.
, vol.95
, pp. 1265-1273
-
-
Zemel, B.S.1
Leonard, M.B.2
Kelly, A.3
-
29
-
-
0034078888
-
Analysis of proximal femur DXA scans in growing children: Comparisons of different protocols for cross-sectional 8-month and 7-year longtudinal data
-
McKay HA, Petit MA, Bailey DA, Wallace WM, Schutz RW, Khan KM,. Analysis of proximal femur DXA scans in growing children: comparisons of different protocols for cross-sectional 8-month and 7-year longitudinal data. J Bone Miner Res. 2000; 15: 1181-1188. (Pubitemid 30350081)
-
(2000)
Journal of Bone and Mineral Research
, vol.15
, Issue.6
, pp. 1181-1188
-
-
McKay, H.A.1
Petit, M.A.2
Bailey, D.A.3
Wallace, W.M.4
Schutz, R.W.5
Khan, K.M.6
-
30
-
-
33748071110
-
Association between bone mass and fractures in children: A prospective cohort study
-
DOI 10.1359/jbmr.060601
-
Clark EM, Ness AR, Bishop NJ, Tobias JH,. Association between bone mass and fractures in children: a prospective cohort study. J Bone Miner Res. 2006; 21: 1489-1495. (Pubitemid 44300056)
-
(2006)
Journal of Bone and Mineral Research
, vol.21
, Issue.9
, pp. 1489-1495
-
-
Clark, E.M.1
Ness, A.R.2
Bishop, N.J.3
Tobias, J.H.4
-
31
-
-
33847220680
-
The 'Functional Muscle-Bone Unit': Probing the relevance of mechanical signals for bone development in children and adolescents
-
Fricke O, Schoenau E,. The 'Functional Muscle-Bone Unit': probing the relevance of mechanical signals for bone development in children and adolescents. Growth Horm IGF Res. 2007; 17: 1-9.
-
(2007)
Growth Horm IGF Res.
, vol.17
, pp. 1-9
-
-
Fricke, O.1
Schoenau, E.2
-
32
-
-
35648978121
-
The Story of Rett Syndrome: From Clinic to Neurobiology
-
DOI 10.1016/j.neuron.2007.10.001, PII S0896627307007568
-
Chahrour M, Zoghbi HY,. The story of Rett syndrome: from clinic to neurobiology. Neuron. 2007; 56: 422-437. (Pubitemid 350026269)
-
(2007)
Neuron
, vol.56
, Issue.3
, pp. 422-437
-
-
Chahrour, M.1
Zoghbi, H.Y.2
-
33
-
-
27144520080
-
Does genotype predict phenotype in Rett syndrome?
-
Ham AL, Kumar A, Deeter R, Schanen NC,. Does genotype predict phenotype in Rett syndrome? J Child Neurol. 2005; 20: 768-778. (Pubitemid 41498713)
-
(2005)
Journal of Child Neurology
, vol.20
, Issue.9
, pp. 768-778
-
-
Ham, A.L.1
Kumar, A.2
Deeter, R.3
Schanen, N.C.4
-
34
-
-
0035076360
-
MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern
-
DOI 10.1038/sj.ejhg.5200600
-
Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N,. MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern. Eur J Hum Genet. 2001; 9: 178-184. (Pubitemid 32237051)
-
(2001)
European Journal of Human Genetics
, vol.9
, Issue.3
, pp. 178-184
-
-
Nielsen, J.B.1
Henriksen, K.F.2
Hansen, C.3
Silahtaroglu, A.4
Schwartz, M.5
Tommerup, N.6
-
35
-
-
42249095974
-
Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome
-
DOI 10.1212/01.wnl.0000291011.54508.aa
-
Neul JL, Fang P, Barrish J, et al. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology. 2008; 70: 1313-1321. (Pubitemid 351550354)
-
(2008)
Neurology
, vol.70
, Issue.16
, pp. 1313-1321
-
-
Neul, J.L.1
Fang, P.2
Barrish, J.3
Lane, J.4
Caeg, E.B.5
Smith, E.O.6
Zoghbi, H.7
Percy, A.8
Glaze, D.G.9
-
36
-
-
40549110266
-
Investigating genotype-phenotype relationships in Rett syndrome using an international data set
-
DOI 10.1212/01.wnl.0000304752.50773.ec, PII 0000611420080311000010
-
Bebbington A, Anderson A, Ravine D, et al. Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology. 2008; 70: 868-875. (Pubitemid 351367508)
-
(2008)
Neurology
, vol.70
, Issue.11
, pp. 868-875
-
-
Bebbington, A.1
Anderson, A.2
Ravine, D.3
Fyfe, S.4
Pineda, M.5
De Klerk, N.6
Ben-Zeev, B.7
Yatawara, N.8
Percy, A.9
Kaufmann, W.E.10
Leonard, H.11
-
37
-
-
0035093830
-
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
-
DOI 10.1038/85906
-
Chen RZ, Akbarian S, Tudor M, Jaenisch R,. Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat Genet. 2001; 27: 327-331. (Pubitemid 32201857)
-
(2001)
Nature Genetics
, vol.27
, Issue.3
, pp. 327-331
-
-
Chen, R.Z.1
Akbarian, S.2
Tudor, M.3
Jaenisch, R.4
-
38
-
-
33750415286
-
Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers
-
DOI 10.1038/sj.ejhg.5201682, PII 5201682
-
Knudsen GP, Neilson TC, Pedersen J, et al. Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers. Eur J Hum Genet. 2006; 14: 1189-1194. (Pubitemid 44642584)
-
(2006)
European Journal of Human Genetics
, vol.14
, Issue.11
, pp. 1189-1194
-
-
Knudsen, G.P.S.1
Neilson, T.C.S.2
Pedersen, J.3
Kerr, A.4
Schwartz, M.5
Hulten, M.6
Bailey, M.E.S.7
Orstavik, K.H.8
-
39
-
-
17444440488
-
Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
-
DOI 10.1002/1531-8249(200005)47:5<670::AID-ANA20>3.0.CO;2-F
-
Amir RE, Van den Veyer IB, Schultz R, et al. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol. 2000; 47: 670-679. (Pubitemid 30261908)
-
(2000)
Annals of Neurology
, vol.47
, Issue.5
, pp. 670-679
-
-
Amir, R.E.1
Van Den Veyver, I.B.2
Schultz, R.3
Malicki, D.M.4
Tran, C.Q.5
Dahle, E.J.6
Philippi, A.7
Timar, L.8
Percy, A.K.9
Motil, K.J.10
Lichtarge, O.11
Smith, E.O'B.12
Glaze, D.G.13
Zoghbi, H.Y.14
-
40
-
-
37449007840
-
X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype
-
Xinhua B, Shengling J, Fuying S, Hong P, Meirong L, Wu XR,. X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype. J Child Neurol. 2008; 23: 22-25.
-
(2008)
J Child Neurol.
, vol.23
, pp. 22-25
-
-
Xinhua, B.1
Shengling, J.2
Fuying, S.3
Hong, P.4
Meirong, L.5
Wu, X.R.6
|