-
1
-
-
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 Veyver IB, Schultz R, et al. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol 2000;47:670-9. (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
-
2
-
-
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;68:944-50.
-
(2010)
Ann Neurol
, vol.68
, pp. 944-950
-
-
Neul, J.L.1
Kaufmann, W.E.2
Glaze, D.G.3
-
3
-
-
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;147:633-7. (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
-
4
-
-
0031892489
-
Increased energy expenditure associated with repetitive involuntary movement does not contribute to growth failure in girls with Rett syndrome
-
DOI 10.1016/S0022-3476(98)70436-6
-
Motil KJ, Schultz RJ, Wong WW, et al. Increased energy expenditure associated with repetitive involuntary movement does not contribute to growth failure in girls with Rett syndrome. J Pediatr 1998;132:228-33. (Pubitemid 28125171)
-
(1998)
Journal of Pediatrics
, vol.132
, Issue.2
, pp. 228-233
-
-
Motil, K.J.1
Schultz, R.J.2
Wang, W.W.3
Glaze, D.G.4
-
5
-
-
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, et al. Fractional calcium absorption is increased in girls with Rett syndrome. J Pediatr Gastroenterol Nutr 2006;42:419-26. (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
-
6
-
-
55049114903
-
Bone mineral content and bone mineral density are lower in older than in younger females with Rett syndrome
-
Motil KJ, Ellis KE, Barrish JO, et al. Bone mineral content and bone mineral density are lower in older than in younger females with Rett syndrome. Pediatr Res 2008;64:435-9.
-
(2008)
Pediatr Res
, vol.64
, pp. 435-439
-
-
Motil, K.J.1
Ellis, K.E.2
Barrish, J.O.3
-
7
-
-
0033512353
-
Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome
-
DOI 10.1097/00005176-199907000-00010
-
Motil KJ, Schultz RJ, Browning K, et al. Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome. J Pediatr Gastroenterol Nutr 1999;29:31-7. (Pubitemid 30345824)
-
(1999)
Journal of Pediatric Gastroenterology and Nutrition
, vol.29
, Issue.1
, pp. 31-37
-
-
Motil, K.J.1
Schultz, R.J.2
Browning, K.3
Trautwein, L.4
Glaze, D.G.5
-
8
-
-
58849133908
-
Eating practices, nutritional status and constipation in patients with Rett syndrome
-
Schwartzman F, Vitolo MR, Schwartzman JS, et al. Eating practices, nutritional status and constipation in patients with Rett syndrome. Arq Gastroenterol 2008;45:284-9.
-
(2008)
Arq Gastroenterol
, vol.45
, pp. 284-289
-
-
Schwartzman, F.1
Vitolo, M.R.2
Schwartzman, J.S.3
-
9
-
-
29944447224
-
A case of massive gastric necrosis in a young girl with Rett Syndrome
-
DOI 10.1016/j.braindev.2005.03.010, PII S038776040500077X
-
Baldassarre E, Capuano G, Valenti G, et al. A case of massive gastric necrosis in a young girl with Rett syndrome. Brain Dev 2006;28:49-51. (Pubitemid 43042438)
-
(2006)
Brain and Development
, vol.28
, Issue.1
, pp. 49-51
-
-
Baldassarre, E.1
Capuano, G.2
Valenti, G.3
Maggi, P.4
Conforti, A.5
Prosperi Porta, I.6
-
10
-
-
78650305381
-
The management of gastric perforation in a girl with Rett syndrome: Report of a case
-
Sezer A, Yagci MA, Hatipoglu AR. The management of gastric perforation in a girl with Rett syndrome: report of a case. Brain Dev 2011;33:83-5.
-
(2011)
Brain Dev
, vol.33
, pp. 83-85
-
-
Sezer, A.1
Yagci, M.A.2
Hatipoglu, A.R.3
-
11
-
-
36749043819
-
Rett syndrome: North American database
-
DOI 10.1177/0883073807308715
-
Percy AK, Lane JB, Childers J, et al. Rett syndrome: North American database. J Child Neurol 2007;22:1338-41. (Pubitemid 350214770)
-
(2007)
Journal of Child Neurology
, vol.22
, Issue.12
, pp. 1338-1341
-
-
Percy, A.K.1
Lane, J.B.2
Childers, J.3
Skinner, S.4
Annese, F.5
Barrish, J.6
Caeg, E.7
Glaze, D.G.8
MacLeod, P.9
-
12
-
-
80053345805
-
-
Centers for Disease Control and Prevention, National Center for Health Statistics Accessed September, 28 2011
-
Centers for Disease Control and Prevention, National Center for Health Statistics. CDC growth charts: United States. http://www.cdc.gov/growthcharts. Accessed September 28, 2011.
-
CDC Growth Charts: United States
-
-
-
13
-
-
67749127434
-
Incidence of gastrointestinal symptoms in children with autism: A population-based study
-
Ibrahim SH, Voigt RG, Katusic SK, et al. Incidence of gastrointestinal symptoms in children with autism: a population-based study. Pediatrics 2009;124:680-6.
-
(2009)
Pediatrics
, vol.124
, pp. 680-686
-
-
Ibrahim, S.H.1
Voigt, R.G.2
Katusic, S.K.3
-
14
-
-
73949128465
-
Evaluation, diagnosis, and treatment of gastrointestinal disorders in individuals with ASDs: A consensus report
-
Buie T, Campbell DB, Fuchs GJ, et al. Evaluation, diagnosis, and treatment of gastrointestinal disorders in individuals with ASDs: a consensus report. Pediatrics 2010;125 (suppl 1):S1-18.
-
(2010)
Pediatrics
, vol.125
, Issue.SUPPL. 1
-
-
Buie, T.1
Campbell, D.B.2
Fuchs, G.J.3
-
15
-
-
0035835984
-
Growth and nutrition in Rett syndrome
-
DOI 10.1080/09638280150504199
-
Reilly S, Cass H. Growth and nutrition in Rett syndrome. Disabil Rehabil 2001;23:118-28. (Pubitemid 32218952)
-
(2001)
Disability and Rehabilitation
, vol.23
, Issue.3-4
, pp. 118-128
-
-
Reilly, S.1
Cass, H.2
-
16
-
-
0037313325
-
Eating difficulties in girls with Rett syndrome compared with other developmental disabilities
-
DOI 10.1053/jada.2003.50026, PII S0002822302000305
-
Issacs JS, Murdock M, Lane J, et al. Eating difficulties in girls with Rett syndrome compared with other developmental disabilities. J Am Diet Assoc 2003;103:224-30. (Pubitemid 38375925)
-
(2003)
Journal of the American Dietetic Association
, vol.103
, Issue.2
, pp. 224-230
-
-
Isaacs, J.S.1
Murdock, M.2
Lane, J.3
Percy, A.K.4
-
17
-
-
0031181685
-
Oral manifestations in Rett syndrome: A study of 17 cases
-
Ribeiro RA, Romano AR, Birman EG, et al. Oral manifestations in Rett syndrome: a study of 17 cases. Pediatr Dent 1997;19:349-52. (Pubitemid 127735143)
-
(1997)
Pediatric Dentistry
, vol.19
, Issue.5
, pp. 349-352
-
-
Ribeiro, R.A.1
-
18
-
-
0030976309
-
Feeding ability in Rett syndrome
-
Morton RE, Bonas R, Minford J, et al. Feeding ability in Rett syndrome. Dev Med Child Neurol 1997;30:331-5. (Pubitemid 27271711)
-
(1997)
Developmental Medicine and Child Neurology
, vol.39
, Issue.5
, pp. 331-335
-
-
Morton, R.E.1
Bonas, R.2
Minford, J.3
Kerr, A.4
Ellis, R.E.5
-
19
-
-
0030931811
-
Respiration patterns during feeding in Rett syndrome
-
Morton RE, Bonas R, Minford J, et al. Respiration patterns during feeding in Rett syndrome. Devel Med Child Neurol 1997;39:607-13. (Pubitemid 27406241)
-
(1997)
Developmental Medicine and Child Neurology
, vol.39
, Issue.9
, pp. 607-613
-
-
Morton, R.E.1
Bonas, R.2
Minford, J.3
Tarrant, S.C.4
Ellis, R.E.5
-
20
-
-
37349125534
-
Feeding experiences and growth status in a Rett syndrome population
-
DOI 10.1097/MPG.0b013e318073cbf7, PII 0000517620071100000011
-
Oddy WH, Webb KG, Baikie G, et al. Feeding experiences and growth status in a Rett syndrome population. J Pediatr Gastroenterol Nutr 2007;45:582-90. (Pubitemid 350307145)
-
(2007)
Journal of Pediatric Gastroenterology and Nutrition
, vol.45
, Issue.5
, pp. 582-590
-
-
Oddy, W.H.1
Webb, K.G.2
Baikie, G.3
Thompson, S.M.4
Reilly, S.5
Fyfe, S.D.6
Young, D.7
Anderson, A.M.8
Leonard, H.9
-
21
-
-
0028110924
-
Altered energy balance may account for growth failure in Rett syndrome
-
Motil KJ, Schultz RJ, Brown B, et al. Altered energy balance may account for growth failure in Rett syndrome. J Child Neurol 1994;9:315-9. (Pubitemid 24255253)
-
(1994)
Journal of Child Neurology
, vol.9
, Issue.3
, pp. 315-319
-
-
Motil, K.J.1
Schultz, R.2
Brown, B.3
Glaze, D.G.4
Percy, A.K.5
-
22
-
-
68949139273
-
Gastrostomy placement improves height and weight gain in girls with Rett syndrome
-
Motil KJ, Morrissey M, Caeg E, et al. Gastrostomy placement improves height and weight gain in girls with Rett syndrome. J Pediatr Gastroenterol Nutr 2009;49:237-42.
-
(2009)
J Pediatr Gastroenterol Nutr
, vol.49
, pp. 237-242
-
-
Motil, K.J.1
Morrissey, M.2
Caeg, E.3
-
23
-
-
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. Devel Med Child Neurol 1999;41:323-8. (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
-
24
-
-
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;69:293-8.
-
(2011)
Pediatr Res
, vol.69
, pp. 293-298
-
-
Jefferson, A.L.1
Woodhead, H.J.2
Fyfe, S.3
-
25
-
-
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;69:359-64.
-
(2011)
Pediatr Res
, vol.69
, pp. 359-364
-
-
Roende, G.1
Ravn, K.2
Fuglsang, K.3
-
26
-
-
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;68:446-51.
-
(2010)
Pediatr Res
, vol.68
, pp. 446-451
-
-
Shapiro, J.R.1
Bibat, G.2
Hiremath, G.3
-
27
-
-
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;42:737-42.
-
(2008)
Bone
, vol.42
, pp. 737-742
-
-
Gonnelli, S.1
Caffarelli, C.2
Hayek, J.3
-
28
-
-
80051987666
-
DXA measurements in Rett syndrome reveal small bones with low bone mass
-
Roende G, Ravn K, Fuglsang K, et al. DXA measurements in Rett syndrome reveal small bones with low bone mass. JBMR 2011; 26:2280-6.
-
(2011)
JBMR
, vol.26
, pp. 2280-2286
-
-
Roende, G.1
Ravn, K.2
Fuglsang, K.3
-
29
-
-
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;69:259-62. (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
-
30
-
-
40949158036
-
Early determinants of fractures in Rett syndrome
-
Downs J, Bebbington A, Woodhead H, et al. Early determinants of fractures in Rett syndrome. Pediatrics 2008;121:540-6.
-
(2008)
Pediatrics
, vol.121
, pp. 540-546
-
-
Downs, J.1
Bebbington, A.2
Woodhead, H.3
-
31
-
-
58649100685
-
Burden of digestive disease in the United States part I: Overall and upper gastrointestinal diseases
-
Everhart JE, Ruhl CE. Burden of digestive disease in the United States part I: overall and upper gastrointestinal diseases. Gastroenterology 2009;136:376-86.
-
(2009)
Gastroenterology
, vol.136
, pp. 376-386
-
-
Everhart, J.E.1
Ruhl, C.E.2
-
32
-
-
0036234316
-
The burden of selected digestive diseases in the United States
-
Sandler RS, Everhart JE, Donowitz M, et al. The burden of selected digestive diseases in the United States. Gastroenterology 2002; 122:1500-11. (Pubitemid 34465190)
-
(2002)
Gastroenterology
, vol.122
, Issue.5
, pp. 1500-1511
-
-
Sandler, R.S.1
Everhart, J.E.2
Donowitz, M.3
Adams, E.4
Cronin, K.5
Goodman, C.6
Gemmen, E.7
Shah, S.8
Avdic, A.9
Rubin, R.10
-
33
-
-
38449100398
-
Gastroenterology services in the UK the burden of disease, and the organization and delivery of services for gastrointestinal and liver disorders: A review of the evidence
-
Williams JG, Roberts SE, Ali MF, et al. Gastroenterology services in the UK. The burden of disease, and the organization and delivery of services for gastrointestinal and liver disorders: a review of the evidence. Gut 2007;56:1-113.
-
(2007)
Gut
, vol.56
, pp. 1-113
-
-
Williams, J.G.1
Roberts, S.E.2
Ali, M.F.3
-
34
-
-
0035192499
-
A case of effective gastrostomy for severe abdominal distention due to breathing dysfunction of Rett's syndrome: A treatment of autonomic disorder
-
Anzai Y, Ohya T. A case of effective gastrostomy for severe abdominal distention due to breathing dysfunction of Rett's syndrome: a treatment of autonomic disorder. Brain Dev 2001;23(Suppl1):S240-1.
-
(2001)
Brain Dev
, vol.23
, Issue.SUPPL. 1
-
-
Anzai, Y.1
Ohya, T.2
-
37
-
-
0034955533
-
Gastric distension, cerebral palsy and unexpected death
-
DOI 10.1054/jcfm.2001.0478
-
Byard RW, Couper RT, Cohle S. Gastric distension, cerebral palsy and unexpected death. J Clin Forensic Med 2001;8:81-5. (Pubitemid 32591283)
-
(2001)
Journal of Clinical Forensic Medicine
, vol.8
, Issue.2
, pp. 81-85
-
-
Byard, R.W.1
Couper, R.T.L.2
Cohle, S.3
-
38
-
-
0032794123
-
Acute abdomen in mentally retarded patients: Role of aerophagia. Report of nine cases
-
DOI 10.1080/110241599750006802
-
van der Kolk MB, Bender MH, Goris RJ. Acute abdomen in mentally retarded patients: role of aerophagia. Report of nine cases. Eur J Surg 1999;165:507-11. (Pubitemid 29377137)
-
(1999)
European Journal of Surgery
, vol.165
, Issue.5
, pp. 507-511
-
-
Van Der Kolk, M.B.M.1
Bender, M.H.M.2
Goris, R.J.A.3
|