-
1
-
-
64149124533
-
Childhood developmental disorders: an academic and clinical convergence point for psychiatry, neurology, psychology and pediatrics
-
Reiss A.L. Childhood developmental disorders: an academic and clinical convergence point for psychiatry, neurology, psychology and pediatrics. J Child Psychol Psychiatry 2009, 50(1-2):87-98.
-
(2009)
J Child Psychol Psychiatry
, vol.50
, Issue.1-2
, pp. 87-98
-
-
Reiss, A.L.1
-
2
-
-
0034068335
-
Behavioural phenotypes: what do they teach us?
-
Skuse D.H. Behavioural phenotypes: what do they teach us?. Arch Dis Child 2000, 82:222-225.
-
(2000)
Arch Dis Child
, vol.82
, pp. 222-225
-
-
Skuse, D.H.1
-
3
-
-
0020052886
-
Emotional disturbance and mental retardation: diagnostic overshadowing
-
Reiss S., Levitan G.W., Szysko J. Emotional disturbance and mental retardation: diagnostic overshadowing. Am J Ment Defic 1982, 86(6):567-574.
-
(1982)
Am J Ment Defic
, vol.86
, Issue.6
, pp. 567-574
-
-
Reiss, S.1
Levitan, G.W.2
Szysko, J.3
-
4
-
-
77952830978
-
Psychopathology in persons with Williams-Beuren syndrome
-
The Johns Hopkins University press, Baltimore (MD), C.A. Morris, H.M. Lenhoff, P.P. Wang (Eds.)
-
Dykens E.M., Rosner B.A. Psychopathology in persons with Williams-Beuren syndrome. Williams-Beuren syndrome: research, evaluation and treatment 2006, 274-293. The Johns Hopkins University press, Baltimore (MD). 1st edition. C.A. Morris, H.M. Lenhoff, P.P. Wang (Eds.).
-
(2006)
Williams-Beuren syndrome: research, evaluation and treatment
, pp. 274-293
-
-
Dykens, E.M.1
Rosner, B.A.2
-
6
-
-
37249038657
-
Prevalence of Down syndrome among children and adolescents in metropolitan Atlanta
-
Besser L.M., Shin M., Kucik J.E., et al. Prevalence of Down syndrome among children and adolescents in metropolitan Atlanta. Birth Defects Res A Clin Mol Teratol 2007, 79:765-774.
-
(2007)
Birth Defects Res A Clin Mol Teratol
, vol.79
, pp. 765-774
-
-
Besser, L.M.1
Shin, M.2
Kucik, J.E.3
-
7
-
-
1842483988
-
Clinical, social, and ethical implications of changing life expectancy in Down syndrome
-
Bittles A.H., Glasson E.J. Clinical, social, and ethical implications of changing life expectancy in Down syndrome. Dev Med Child Neurol 2004, (46):282-286.
-
(2004)
Dev Med Child Neurol
, Issue.46
, pp. 282-286
-
-
Bittles, A.H.1
Glasson, E.J.2
-
8
-
-
73849092216
-
On behalf of the professional practice guidelines committee. Screening for fetal aneuploidy and neural tube defects
-
Driscoll D.A., Gross S.J. On behalf of the professional practice guidelines committee. Screening for fetal aneuploidy and neural tube defects. Genet Med 2009, 11(11):818-821.
-
(2009)
Genet Med
, vol.11
, Issue.11
, pp. 818-821
-
-
Driscoll, D.A.1
Gross, S.J.2
-
9
-
-
0032486113
-
Anomalies in Down syndrome individuals in a large population based registry
-
Torfs C.P., Christianson R.E. Anomalies in Down syndrome individuals in a large population based registry. Am J Med Genet 1998, 77:431-438.
-
(1998)
Am J Med Genet
, vol.77
, pp. 431-438
-
-
Torfs, C.P.1
Christianson, R.E.2
-
10
-
-
0034805962
-
Seizure frequency and characteristics in children with Down syndrome
-
Goldberg-Stern H., Strawsburg R.H., Patterson B., et al. Seizure frequency and characteristics in children with Down syndrome. Brain Dev 2001, 23:375-378.
-
(2001)
Brain Dev
, vol.23
, pp. 375-378
-
-
Goldberg-Stern, H.1
Strawsburg, R.H.2
Patterson, B.3
-
11
-
-
0033170702
-
Down syndrome and thyroid disorders: a review
-
Prasher V.P. Down syndrome and thyroid disorders: a review. Downs Syndr Res Pract 1999, 6:25-42.
-
(1999)
Downs Syndr Res Pract
, vol.6
, pp. 25-42
-
-
Prasher, V.P.1
-
12
-
-
19944433266
-
Guidelines for the diagnosis and treatment of celiac disease in children: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition
-
Hill I., Dirks M., Liptak G., et al. Guidelines for the diagnosis and treatment of celiac disease in children: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol 2004, 40(1):1-19.
-
(2004)
J Pediatr Gastroenterol
, vol.40
, Issue.1
, pp. 1-19
-
-
Hill, I.1
Dirks, M.2
Liptak, G.3
-
13
-
-
0035258703
-
Health supervision for children with Down syndrome
-
American Academy of Pediatrics Committee on Genetics
-
American Academy of Pediatrics Committee on Genetics Health supervision for children with Down syndrome. Pediatrics 2001, 107:442-449.
-
(2001)
Pediatrics
, vol.107
, pp. 442-449
-
-
-
14
-
-
0029441167
-
Individual differences in vocabulary acquisition in children with Down syndrome
-
Miller J.F. Individual differences in vocabulary acquisition in children with Down syndrome. Prog Clin Biol Res 1995, 393:93-103.
-
(1995)
Prog Clin Biol Res
, vol.393
, pp. 93-103
-
-
Miller, J.F.1
-
15
-
-
0026336361
-
Psychiatric disorders in persons with Down syndrome
-
Myers B.A., Pueschel S.M. Psychiatric disorders in persons with Down syndrome. J Nerv Ment Dis 1991, 179(10):609-613.
-
(1991)
J Nerv Ment Dis
, vol.179
, Issue.10
, pp. 609-613
-
-
Myers, B.A.1
Pueschel, S.M.2
-
16
-
-
0028221536
-
Environmental and temperament assessments of children with Down's syndrome
-
Pueschel S.M., Myers B.A. Environmental and temperament assessments of children with Down's syndrome. J Intellect Disabil Res 1994, 38(pt2):195-202.
-
(1994)
J Intellect Disabil Res
, vol.38
, Issue.PART 2
, pp. 195-202
-
-
Pueschel, S.M.1
Myers, B.A.2
-
17
-
-
0023083734
-
Cognitive and learning processes in children with Down syndrome
-
Pueschel S.M., Gallagher P.L., Zartler A.S., et al. Cognitive and learning processes in children with Down syndrome. Res Dev Disabil 1987, 8(1):21-37.
-
(1987)
Res Dev Disabil
, vol.8
, Issue.1
, pp. 21-37
-
-
Pueschel, S.M.1
Gallagher, P.L.2
Zartler, A.S.3
-
19
-
-
33748089366
-
Neurobehavioral disorders in children, adolescents, and young adults with Down syndrome
-
Capone G., Goyal P., Ares W., et al. Neurobehavioral disorders in children, adolescents, and young adults with Down syndrome. Am J Med Genet 2006, 142C(3):158-172.
-
(2006)
Am J Med Genet
, vol.142 C
, Issue.3
, pp. 158-172
-
-
Capone, G.1
Goyal, P.2
Ares, W.3
-
20
-
-
0036737710
-
Maladaptive behavior in children and adolescents with Down's syndrome
-
Dykens E.M., Shah B., Sagun J., et al. Maladaptive behavior in children and adolescents with Down's syndrome. J Intellect Disabil Res 2002, 46:484-492.
-
(2002)
J Intellect Disabil Res
, vol.46
, pp. 484-492
-
-
Dykens, E.M.1
Shah, B.2
Sagun, J.3
-
21
-
-
0034151990
-
Compulsive-like behavior in individuals with Down syndrome: its relation to mental age level, adaptive, and maladaptive behavior
-
Evans D.W., Gray F.L. Compulsive-like behavior in individuals with Down syndrome: its relation to mental age level, adaptive, and maladaptive behavior. Child Dev 2000, 71(2):288-300.
-
(2000)
Child Dev
, vol.71
, Issue.2
, pp. 288-300
-
-
Evans, D.W.1
Gray, F.L.2
-
22
-
-
0027936308
-
Clinical features and diagnostic criteria of depression in Down's syndrome
-
Cooper S.A., Collacott R.A. Clinical features and diagnostic criteria of depression in Down's syndrome. Br J Psychiatry 1994, 165(3):399-403.
-
(1994)
Br J Psychiatry
, vol.165
, Issue.3
, pp. 399-403
-
-
Cooper, S.A.1
Collacott, R.A.2
-
24
-
-
0033791306
-
Autism in Down's syndrome: a family history study
-
Ghaziuddin M. Autism in Down's syndrome: a family history study. J Intellect Disabil Res 2000, 44(Pt 5):562-566.
-
(2000)
J Intellect Disabil Res
, vol.44
, Issue.PART 5
, pp. 562-566
-
-
Ghaziuddin, M.1
-
25
-
-
33748080571
-
Safety and efficacy of rivastigimine in adolescents with Down syndrome: a preliminary 20-week, open-label study
-
Heller J.H., Spiridigliozzi G.A., Crissman B.G., et al. Safety and efficacy of rivastigimine in adolescents with Down syndrome: a preliminary 20-week, open-label study. J Child Adolesc Psychopharmacol 2006, 16(6):755-765.
-
(2006)
J Child Adolesc Psychopharmacol
, vol.16
, Issue.6
, pp. 755-765
-
-
Heller, J.H.1
Spiridigliozzi, G.A.2
Crissman, B.G.3
-
26
-
-
33846199099
-
Molecular testing for Fragile X syndrome: lessons learned from 119,232 tests performed in a clinical laboratory
-
Strom C.M., Crossley B., Redman J.B., et al. Molecular testing for Fragile X syndrome: lessons learned from 119,232 tests performed in a clinical laboratory. Genet Med 2007, 9:46-51.
-
(2007)
Genet Med
, vol.9
, pp. 46-51
-
-
Strom, C.M.1
Crossley, B.2
Redman, J.B.3
-
27
-
-
27644507366
-
Fragile X syndrome: diagnostic and carrier testing
-
Sherman S., Pletcher B.A., Driscoll D.A. Fragile X syndrome: diagnostic and carrier testing. Genet Med 2005, 7:584-587.
-
(2005)
Genet Med
, vol.7
, pp. 584-587
-
-
Sherman, S.1
Pletcher, B.A.2
Driscoll, D.A.3
-
28
-
-
9344267678
-
Health supervision for children with Fragile X syndrome
-
American Academy of Pediatrics Committee on Genetics
-
American Academy of Pediatrics Committee on Genetics Health supervision for children with Fragile X syndrome. Pediatrics 1996, 98:297-300.
-
(1996)
Pediatrics
, vol.98
, pp. 297-300
-
-
-
29
-
-
9144252520
-
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population
-
Jacquemont S., Hagerman R.J., Leehey M.A., et al. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. J Am Med Assoc 2004, 291:460-469.
-
(2004)
J Am Med Assoc
, vol.291
, pp. 460-469
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.A.3
-
30
-
-
0027446503
-
Molecular genetic advances in fragile X syndrome
-
Tarleton J.C., Saul R.A. Molecular genetic advances in fragile X syndrome. J Pediatr 1993, 122:169-185.
-
(1993)
J Pediatr
, vol.122
, pp. 169-185
-
-
Tarleton, J.C.1
Saul, R.A.2
-
31
-
-
0034608670
-
Physical characteristics of young boys with Fragile X syndrome: reasons for difficulties in making a diagnosis in young males
-
Lachiewicz A.M., Dawson D.V., Spiridiglioaai G.A. Physical characteristics of young boys with Fragile X syndrome: reasons for difficulties in making a diagnosis in young males. Am J Med Genet 2000, 92:229-236.
-
(2000)
Am J Med Genet
, vol.92
, pp. 229-236
-
-
Lachiewicz, A.M.1
Dawson, D.V.2
Spiridiglioaai, G.A.3
-
32
-
-
0036591683
-
The fragile X premutation: into the phenotypic fold
-
Hagerman R.J., Hagerman P.J. The fragile X premutation: into the phenotypic fold. Curr Opin Genet Dev 2002, 12:278-283.
-
(2002)
Curr Opin Genet Dev
, vol.12
, pp. 278-283
-
-
Hagerman, R.J.1
Hagerman, P.J.2
-
33
-
-
80051699608
-
-
Fragile X-associated tremor-ataxia syndrome (FXTAS): An X-linked neurodegenerative phenotype. Presented at the American College of Medical Genetics Meeting. Dallas (TX), [Abstract #280].
-
Grigsby J, Bennett R, Brega A, et al. Fragile X-associated tremor-ataxia syndrome (FXTAS): An X-linked neurodegenerative phenotype. Presented at the American College of Medical Genetics Meeting. Dallas (TX), 2005 [Abstract #280].
-
(2005)
-
-
Grigsby, J.1
Bennett, R.2
Brega, A.3
-
34
-
-
0028197715
-
Profiles and development of adaptive behavior in children with Down syndrome
-
Dykens E.M., Hodapp R.M., Evnas D.W. Profiles and development of adaptive behavior in children with Down syndrome. Am J Ment Retard 1994, 98(5):580-587.
-
(1994)
Am J Ment Retard
, vol.98
, Issue.5
, pp. 580-587
-
-
Dykens, E.M.1
Hodapp, R.M.2
Evnas, D.W.3
-
35
-
-
0034094215
-
Advances in research on the Fragile X syndrome
-
Mazzocco M.M. Advances in research on the Fragile X syndrome. Ment Retard Dev Disabil Res Rev 2000, 6(2):96-106.
-
(2000)
Ment Retard Dev Disabil Res Rev
, vol.6
, Issue.2
, pp. 96-106
-
-
Mazzocco, M.M.1
-
36
-
-
11244346634
-
Mapping nonverbal IQ in young boys with Fragile X syndrome
-
Skinner M., Hooper S., Hatton D.D., et al. Mapping nonverbal IQ in young boys with Fragile X syndrome. Am J Med Genet Am 2005, 132(1):25-32.
-
(2005)
Am J Med Genet Am
, vol.132
, Issue.1
, pp. 25-32
-
-
Skinner, M.1
Hooper, S.2
Hatton, D.D.3
-
37
-
-
0033515582
-
Fragile X syndrome and selective mutism
-
Hagerman R.J., Hills J., Scharfenaker S., et al. Fragile X syndrome and selective mutism. Am J Med Genet 1999, 83(4):313-317.
-
(1999)
Am J Med Genet
, vol.83
, Issue.4
, pp. 313-317
-
-
Hagerman, R.J.1
Hills, J.2
Scharfenaker, S.3
-
38
-
-
0032541268
-
Genotype-phenotype relationship in female carriers of the permutation and full mutation of FMR-1
-
Franke P., Leboyer M., Gansicke M., et al. Genotype-phenotype relationship in female carriers of the permutation and full mutation of FMR-1. Psychiatry Res 1998, 80(2):113-127.
-
(1998)
Psychiatry Res
, vol.80
, Issue.2
, pp. 113-127
-
-
Franke, P.1
Leboyer, M.2
Gansicke, M.3
-
39
-
-
11144293459
-
The emerging Fragile X permutation phenotype: evidence from the domain of social cognition
-
Cornish K., Kogan C., Turk J., et al. The emerging Fragile X permutation phenotype: evidence from the domain of social cognition. Brain Cogn 2005, 57(1):53-60.
-
(2005)
Brain Cogn
, vol.57
, Issue.1
, pp. 53-60
-
-
Cornish, K.1
Kogan, C.2
Turk, J.3
-
40
-
-
0032861472
-
Behavioral style of young boys with Fragile X syndrome
-
Hatton D.D., Bailey D.B., Hargett-Beck M.Q., et al. Behavioral style of young boys with Fragile X syndrome. Dev Med Child Neurol 1999, 41(9):625-632.
-
(1999)
Dev Med Child Neurol
, vol.41
, Issue.9
, pp. 625-632
-
-
Hatton, D.D.1
Bailey, D.B.2
Hargett-Beck, M.Q.3
-
41
-
-
0033515516
-
Electrodermal responses to sensory stimuli in individuals with Fragile X syndrome: a preliminary report
-
Miller L.J., Mcintosh D.N., McGrath J., et al. Electrodermal responses to sensory stimuli in individuals with Fragile X syndrome: a preliminary report. Am J Med Genet 1999, 83(4):26-79.
-
(1999)
Am J Med Genet
, vol.83
, Issue.4
, pp. 26-79
-
-
Miller, L.J.1
Mcintosh, D.N.2
McGrath, J.3
-
42
-
-
0034856179
-
Cardiovascular indices of physiological arousal in boys with Fragile X syndrome
-
Roberts J.E., Boccia M.L., Bailey D.B., et al. Cardiovascular indices of physiological arousal in boys with Fragile X syndrome. Dev Psychobiol 2001, 39(2):107-123.
-
(2001)
Dev Psychobiol
, vol.39
, Issue.2
, pp. 107-123
-
-
Roberts, J.E.1
Boccia, M.L.2
Bailey, D.B.3
-
43
-
-
1542366430
-
Here's looking at you, kid: neural systems underlying face and gaze processing in Fragile X syndrome
-
Garrett A.S., Menon V., MacKenzie K. Here's looking at you, kid: neural systems underlying face and gaze processing in Fragile X syndrome. Arch Gen Psychiatry 2004, 61(3):281-288.
-
(2004)
Arch Gen Psychiatry
, vol.61
, Issue.3
, pp. 281-288
-
-
Garrett, A.S.1
Menon, V.2
MacKenzie, K.3
-
44
-
-
62849115922
-
Physiologic correlates of social avoidance behavior in children and adolescents with Fragile X syndrome
-
Hall S.S., Lightbody A.A., Huffman L.C. Physiologic correlates of social avoidance behavior in children and adolescents with Fragile X syndrome. J Am Acad Child Adolesc Psychiatry 2009, 48(3):320-329.
-
(2009)
J Am Acad Child Adolesc Psychiatry
, vol.48
, Issue.3
, pp. 320-329
-
-
Hall, S.S.1
Lightbody, A.A.2
Huffman, L.C.3
-
45
-
-
33748960624
-
Social escape behaviors in children with Fragile X syndrome
-
Hall S., DeBernardis M., Reiss A. Social escape behaviors in children with Fragile X syndrome. J Autism Dev Disord 2006, 36(7):935-947.
-
(2006)
J Autism Dev Disord
, vol.36
, Issue.7
, pp. 935-947
-
-
Hall, S.1
DeBernardis, M.2
Reiss, A.3
-
46
-
-
0042806125
-
Autistic-like behaviour profile and psychiatric morbidity in Fragile X syndrome: a prospective ten-year follow-up study
-
Sabaratnam M., Murthy N.V., Wijeratne A., et al. Autistic-like behaviour profile and psychiatric morbidity in Fragile X syndrome: a prospective ten-year follow-up study. Eur Child Adolesc Psychiatry 2003, 12(4):172-177.
-
(2003)
Eur Child Adolesc Psychiatry
, vol.12
, Issue.4
, pp. 172-177
-
-
Sabaratnam, M.1
Murthy, N.V.2
Wijeratne, A.3
-
47
-
-
70449596597
-
Using percentile schedules to increase eye contact in children with Fragile X syndrome
-
Hall S.S., Maynes N.P., Reiss A.L. Using percentile schedules to increase eye contact in children with Fragile X syndrome. J Appl Behav Anal 2009, 42(1):171-176.
-
(2009)
J Appl Behav Anal
, vol.42
, Issue.1
, pp. 171-176
-
-
Hall, S.S.1
Maynes, N.P.2
Reiss, A.L.3
-
48
-
-
0028148707
-
A survey of fluoxetine therapy in Fragile X syndrome
-
Hagerman R.J., Fulton M.J., Leaman A., et al. A survey of fluoxetine therapy in Fragile X syndrome. Dev Brain Dysfunct 1994, 7:155-164.
-
(1994)
Dev Brain Dysfunct
, vol.7
, pp. 155-164
-
-
Hagerman, R.J.1
Fulton, M.J.2
Leaman, A.3
-
49
-
-
33646145602
-
Lessons from Fragile X regarding neurobiology, autism, and neurodegeneration
-
Hagerman R.J. Lessons from Fragile X regarding neurobiology, autism, and neurodegeneration. J Dev Behav Pediatr 2006, 27(1):63-74.
-
(2006)
J Dev Behav Pediatr
, vol.27
, Issue.1
, pp. 63-74
-
-
Hagerman, R.J.1
-
50
-
-
0025723447
-
Effects of long acting propranolol on agonistic and stereotyped behaviors in a man with pervasive developmental disorder and Fragile X syndrome:a double blind, placebo controlled study
-
Cohen I.L., Tsiouris J.A., Pfadt A. Effects of long acting propranolol on agonistic and stereotyped behaviors in a man with pervasive developmental disorder and Fragile X syndrome:a double blind, placebo controlled study. J Clin Psychopharmacol 1991, 11(6):398-399.
-
(1991)
J Clin Psychopharmacol
, vol.11
, Issue.6
, pp. 398-399
-
-
Cohen, I.L.1
Tsiouris, J.A.2
Pfadt, A.3
-
51
-
-
0023712542
-
A controlled trial of stimulant medication in children with Fragile X syndrome
-
Hagerman R.J., Murphy M.A., Wittenberger M.D. A controlled trial of stimulant medication in children with Fragile X syndrome. Am J Med Genet 1988, 30(1-2):377-392.
-
(1988)
Am J Med Genet
, vol.30
, Issue.1-2
, pp. 377-392
-
-
Hagerman, R.J.1
Murphy, M.A.2
Wittenberger, M.D.3
-
52
-
-
18344387333
-
Influence of stimulants on electrodermal studies in Fragile X syndrome
-
Hagerman R.J. Influence of stimulants on electrodermal studies in Fragile X syndrome. Microsc Res Tech 2002, 57:168-173.
-
(2002)
Microsc Res Tech
, vol.57
, pp. 168-173
-
-
Hagerman, R.J.1
-
53
-
-
0032748826
-
Double-blind, placebo-controlled study of L-acetylcarnitine for the treatment of hyperactive behavior in Fragile X syndrome
-
Torrioli M.G., Nernacotola S., Mariotti P., et al. Double-blind, placebo-controlled study of L-acetylcarnitine for the treatment of hyperactive behavior in Fragile X syndrome. Am J Med Genet 1999, 87(4):366-368.
-
(1999)
Am J Med Genet
, vol.87
, Issue.4
, pp. 366-368
-
-
Torrioli, M.G.1
Nernacotola, S.2
Mariotti, P.3
-
54
-
-
0029549845
-
A survey of the efficacy of clonidine in Fragile X syndrome
-
Hagerman R.J., Riddle J.E., Roberts L.S., et al. A survey of the efficacy of clonidine in Fragile X syndrome. Dev Brain Dysfunction 1995, 8:336-344.
-
(1995)
Dev Brain Dysfunction
, vol.8
, pp. 336-344
-
-
Hagerman, R.J.1
Riddle, J.E.2
Roberts, L.S.3
-
55
-
-
0026003277
-
Imipramine treatment of ADHD in a Fragile X child
-
Hilton D.K., Martin C.A., Heffron W.M., et al. Imipramine treatment of ADHD in a Fragile X child. J Am Acad Child Adolesc Psychiatry 1991, 30(5):831-834.
-
(1991)
J Am Acad Child Adolesc Psychiatry
, vol.30
, Issue.5
, pp. 831-834
-
-
Hilton, D.K.1
Martin, C.A.2
Heffron, W.M.3
-
56
-
-
34249940138
-
Fragile X syndrome: assessment and treatment implications
-
Reiss A.L., Hall S.S. Fragile X syndrome: assessment and treatment implications. Child Adolesc Psychiatr Clin N Am 2007, 16(3):668.
-
(2007)
Child Adolesc Psychiatr Clin N Am
, vol.16
, Issue.3
, pp. 668
-
-
Reiss, A.L.1
Hall, S.S.2
-
57
-
-
33646010905
-
Rett syndrome in Australia: a review of the epidemiology
-
Laurvick C.L., de Klerk N., Bower C., et al. Rett syndrome in Australia: a review of the epidemiology. J Pediatr 2006, 148:347-352.
-
(2006)
J Pediatr
, vol.148
, pp. 347-352
-
-
Laurvick, C.L.1
de Klerk, N.2
Bower, C.3
-
58
-
-
0035836010
-
Rett syndrome: clinical characteristics and recent genetic advances
-
Ellaway C., Christodoulou J. Rett syndrome: clinical characteristics and recent genetic advances. Disabil Rehabil 2001, 23:98-106.
-
(2001)
Disabil Rehabil
, vol.23
, pp. 98-106
-
-
Ellaway, C.1
Christodoulou, J.2
-
59
-
-
19444369845
-
Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases
-
Kammoun F., de Roux N., Boespflug-Tanguy O., et al. Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases. J Med Genet 2004, 41:e85.
-
(2004)
J Med Genet
, vol.41
-
-
Kammoun, F.1
de Roux, N.2
Boespflug-Tanguy, O.3
-
60
-
-
33845903824
-
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome
-
Li M.R., Pan H., Bao X.H., et al. MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. J Hum Genet 2007, 52:38-47.
-
(2007)
J Hum Genet
, vol.52
, pp. 38-47
-
-
Li, M.R.1
Pan, H.2
Bao, X.H.3
-
61
-
-
0037824702
-
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype
-
Weaving L.S., Williamson S.L., Bennetts B., et al. Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. Am J Med Genet Am 2003, 118:103-114.
-
(2003)
Am J Med Genet Am
, vol.118
, pp. 103-114
-
-
Weaving, L.S.1
Williamson, S.L.2
Bennetts, B.3
-
62
-
-
33646401095
-
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients
-
Archer H.L., Whatley S.D., Evans J.C., et al. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. J Med Genet 2006, 43:451-456.
-
(2006)
J Med Genet
, vol.43
, pp. 451-456
-
-
Archer, H.L.1
Whatley, S.D.2
Evans, J.C.3
-
63
-
-
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
-
Hagberg B., Hanefeld F., Percy A., et al. 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. Europ J Paediatr Neurol 2002, 6:293-297.
-
(2002)
Europ J Paediatr Neurol
, vol.6
, pp. 293-297
-
-
Hagberg, B.1
Hanefeld, F.2
Percy, A.3
-
64
-
-
0002597037
-
-
MacKeith Cambridge University Press, Cambridge (UK)
-
Hagberg B., Gilberg C. Rett syndrome, clinical and biological aspects, Rett Variants-Rettoid types, Clinics in Developmental Medicine 1993, vol. 127. MacKeith Cambridge University Press, Cambridge (UK), p. 40-60.
-
(1993)
Rett syndrome, clinical and biological aspects, Rett Variants-Rettoid types, Clinics in Developmental Medicine
, vol.127
, pp. 40-60
-
-
Hagberg, B.1
Gilberg, C.2
-
65
-
-
0025617299
-
Rett syndrome in Sweden
-
Witt-Engerström I. Rett syndrome in Sweden. Acta Paediatr Scand 1990, 369(Suppl):1-60.
-
(1990)
Acta Paediatr Scand
, vol.369
, Issue.SUPPL.
, pp. 1-60
-
-
Witt-Engerström, I.1
-
66
-
-
0037404490
-
Findings from a multidisciplinary clinical case series of females with Rett syndrome
-
Cass H., Reilly S., Owen L., et al. Findings from a multidisciplinary clinical case series of females with Rett syndrome. Dev Med Child Neurol 2003, 45(5):325-337.
-
(2003)
Dev Med Child Neurol
, vol.45
, Issue.5
, pp. 325-337
-
-
Cass, H.1
Reilly, S.2
Owen, L.3
-
67
-
-
33749577607
-
Communication and eating proficiency in 125 females with Rett syndrome: the Swedish Rett Center Survey
-
Lavas J., Slotte A., Jochym-Nygren M., et al. Communication and eating proficiency in 125 females with Rett syndrome: the Swedish Rett Center Survey. Disabil Rehabil 2006, 28(20):1267-1279.
-
(2006)
Disabil Rehabil
, vol.28
, Issue.20
, pp. 1267-1279
-
-
Lavas, J.1
Slotte, A.2
Jochym-Nygren, M.3
-
68
-
-
33845485660
-
Rett syndrome. A review with emphasis on clinical characteristics and intervention
-
Lotan M., Ben-Zeev B. Rett syndrome. A review with emphasis on clinical characteristics and intervention. Scientific World Journal 2006, 6(6):1517-1541.
-
(2006)
Scientific World Journal
, vol.6
, Issue.6
, pp. 1517-1541
-
-
Lotan, M.1
Ben-Zeev, B.2
-
70
-
-
0038690664
-
Diagnostic testing for Prader-Willi syndrome and Angelman syndrome: a cost comparison
-
Monaghan K.G., Wiktor A., Van Dyke D.L. Diagnostic testing for Prader-Willi syndrome and Angelman syndrome: a cost comparison. Genet Med 2002, 4:448-450.
-
(2002)
Genet Med
, vol.4
, pp. 448-450
-
-
Monaghan, K.G.1
Wiktor, A.2
Van Dyke, D.L.3
-
71
-
-
0027476242
-
Prader-Willi syndrome: consensus diagnostic criteria
-
Holm V.A., Cassidy S.B., Butler M.G., et al. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 1993, 91:398-402.
-
(1993)
Pediatrics
, vol.91
, pp. 398-402
-
-
Holm, V.A.1
Cassidy, S.B.2
Butler, M.G.3
-
72
-
-
0035515362
-
The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria
-
Gunay-Aygun M., Schwartz S., Heeger S., et al. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 2001, 108:E92.
-
(2001)
Pediatrics
, vol.108
-
-
Gunay-Aygun, M.1
Schwartz, S.2
Heeger, S.3
-
73
-
-
0033759996
-
Body composition abnormalities in children with Prader-Willi syndrome and long-term effects of growth hormone therapy
-
Eiholzer U., l'Allemand D., van der Sluis I., et al. Body composition abnormalities in children with Prader-Willi syndrome and long-term effects of growth hormone therapy. Horm Res 2000, 53:200-206.
-
(2000)
Horm Res
, vol.53
, pp. 200-206
-
-
Eiholzer, U.1
l'Allemand, D.2
van der Sluis, I.3
-
74
-
-
0347720717
-
Endocrine and metabolic aspects of adult Prader-Willi syndrome with special emphasis on the effect of growth hormone treatment
-
Hoybye C. Endocrine and metabolic aspects of adult Prader-Willi syndrome with special emphasis on the effect of growth hormone treatment. Growth Horm IGF Res 2004, 14:1-15.
-
(2004)
Growth Horm IGF Res
, vol.14
, pp. 1-15
-
-
Hoybye, C.1
-
75
-
-
0026664892
-
Prader-Willi syndrome: a review with special attention to the cognitive and behavioral profile
-
Curfs L.M., Fryns J.P. Prader-Willi syndrome: a review with special attention to the cognitive and behavioral profile. Birth Defects Orig Artic Ser 1992, 28(1):99-104.
-
(1992)
Birth Defects Orig Artic Ser
, vol.28
, Issue.1
, pp. 99-104
-
-
Curfs, L.M.1
Fryns, J.P.2
-
77
-
-
0028010967
-
A survey of the phenomenology and pharmacotherapy of compulsive and impulsive-aggressive symptoms in Prader Willi syndrome
-
Stein D.J., Keating J., Zar H.J., et al. A survey of the phenomenology and pharmacotherapy of compulsive and impulsive-aggressive symptoms in Prader Willi syndrome. J Neuropsychiatry Clin Neurosci 1994, 6(1):23-29.
-
(1994)
J Neuropsychiatry Clin Neurosci
, vol.6
, Issue.1
, pp. 23-29
-
-
Stein, D.J.1
Keating, J.2
Zar, H.J.3
-
79
-
-
0029587002
-
Correlates of maladaptive behavior in children and adults with Prader-Willi syndrome
-
Dykens E.M., Cassidy S.B. Correlates of maladaptive behavior in children and adults with Prader-Willi syndrome. Am J Med Genet 1995, 60(6):546-549.
-
(1995)
Am J Med Genet
, vol.60
, Issue.6
, pp. 546-549
-
-
Dykens, E.M.1
Cassidy, S.B.2
-
80
-
-
21744434425
-
Deficits in social attribution ability in Prader-Willi syndrome
-
Koenig K., Klin A., Schultz R. Deficits in social attribution ability in Prader-Willi syndrome. J Autism Dev Disord 2004, 34(5):573-582.
-
(2004)
J Autism Dev Disord
, vol.34
, Issue.5
, pp. 573-582
-
-
Koenig, K.1
Klin, A.2
Schultz, R.3
-
81
-
-
2542487643
-
Psychotic disorders in Prader-Willi syndrome
-
Vogels A., De Hert M., Descheemaeker M.J., et al. Psychotic disorders in Prader-Willi syndrome. Am J Med Genet 2004, 127A(3):238-243.
-
(2004)
Am J Med Genet
, vol.127 A
, Issue.3
, pp. 238-243
-
-
Vogels, A.1
De Hert, M.2
Descheemaeker, M.J.3
-
82
-
-
0037065539
-
Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy
-
Boer H., Holland A., Whittington J., et al. Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy. Lancet 2002, 359(9301):135-136.
-
(2002)
Lancet
, vol.359
, Issue.9301
, pp. 135-136
-
-
Boer, H.1
Holland, A.2
Whittington, J.3
-
83
-
-
33845294444
-
The course and outcome of psychiatric illness in people with Prader-Willi syndrome: implications for management and treatment
-
Soni S., Whittington J., Holland A.J. The course and outcome of psychiatric illness in people with Prader-Willi syndrome: implications for management and treatment. J Intellect Disabil Res 2007, 51:32-42.
-
(2007)
J Intellect Disabil Res
, vol.51
, pp. 32-42
-
-
Soni, S.1
Whittington, J.2
Holland, A.J.3
-
84
-
-
0032769422
-
Self-injurious behavior and Prader-Willi syndrome: behavioral forms and body locations
-
Symons F.J., Butler M.G., Sanders M.D., et al. Self-injurious behavior and Prader-Willi syndrome: behavioral forms and body locations. Am J Ment Retard 1999, 104(3):260-269.
-
(1999)
Am J Ment Retard
, vol.104
, Issue.3
, pp. 260-269
-
-
Symons, F.J.1
Butler, M.G.2
Sanders, M.D.3
-
85
-
-
34249950745
-
Tools for psychological and behavioral management
-
Springer, New York, M.G. Butler (Ed.)
-
Whitman B.Y. Tools for psychological and behavioral management. Management of Prader-Willi syndrome 2006, 317-343. Springer, New York. 3rd edition. M.G. Butler (Ed.).
-
(2006)
Management of Prader-Willi syndrome
, pp. 317-343
-
-
Whitman, B.Y.1
-
86
-
-
80051682490
-
-
The use of psychotropic medications in Prader-Willi syndrome. Presented at the 20th Annual PWSA (USA) National Conference. Orlando (FL), July 27
-
Roof E, The use of psychotropic medications in Prader-Willi syndrome. Presented at the 20th Annual PWSA (USA) National Conference. Orlando (FL), July 27, 2005.
-
(2005)
-
-
Roof, E.1
-
87
-
-
0037220764
-
Psychiatric disorders in Prader-Willi syndrome: epidemiology and management
-
Dykens E., Shah B. Psychiatric disorders in Prader-Willi syndrome: epidemiology and management. CNS Drugs 2003, 17:167-178.
-
(2003)
CNS Drugs
, vol.17
, pp. 167-178
-
-
Dykens, E.1
Shah, B.2
-
88
-
-
0027941754
-
Self-injurious behavior and serotonin in Prader-Willi syndrome
-
Hellings J.A., Warnock J.K. Self-injurious behavior and serotonin in Prader-Willi syndrome. Psychopharmacol Bull 1994, 30(2):245-250.
-
(1994)
Psychopharmacol Bull
, vol.30
, Issue.2
, pp. 245-250
-
-
Hellings, J.A.1
Warnock, J.K.2
-
89
-
-
5444275293
-
Effects of topiramate in adults with Prader-Willi syndrome
-
Shapira N.A., Lessig M.C., Lewis M.H. Effects of topiramate in adults with Prader-Willi syndrome. Am J Ment Retard 2004, 109(4):301-309.
-
(2004)
Am J Ment Retard
, vol.109
, Issue.4
, pp. 301-309
-
-
Shapira, N.A.1
Lessig, M.C.2
Lewis, M.H.3
-
90
-
-
0344406209
-
Topiramate effectiveness in Prader-Willi syndrome
-
Smathers S.A., Wilson J.G., Nigro M.A. Topiramate effectiveness in Prader-Willi syndrome. Pediatr Neurol 2003, 28(2):130-133.
-
(2003)
Pediatr Neurol
, vol.28
, Issue.2
, pp. 130-133
-
-
Smathers, S.A.1
Wilson, J.G.2
Nigro, M.A.3
-
91
-
-
0023430881
-
Carbamazepine for intermittent explosive disorder in a Prader-Willi syndrome patient
-
Gupta B.K., Fish D.N., Yerevanian B.I. Carbamazepine for intermittent explosive disorder in a Prader-Willi syndrome patient. J Clin Psychiatry 1987, 48(10):423.
-
(1987)
J Clin Psychiatry
, vol.48
, Issue.10
, pp. 423
-
-
Gupta, B.K.1
Fish, D.N.2
Yerevanian, B.I.3
-
92
-
-
0027288571
-
Prader-Willi and bipolar illness
-
Jerome L. Prader-Willi and bipolar illness. J Am Acad Child Adolesc Psychiatry 1993, 32(4):876-877.
-
(1993)
J Am Acad Child Adolesc Psychiatry
, vol.32
, Issue.4
, pp. 876-877
-
-
Jerome, L.1
-
93
-
-
0033647457
-
Risperidone in treating behavioural disturbances of Prader-Willi syndrome
-
Durst R., Rubin-Jabotinksy K., Raskin S. Risperidone in treating behavioural disturbances of Prader-Willi syndrome. Acta Psychiatr Scand 2000, 102(6):461-465.
-
(2000)
Acta Psychiatr Scand
, vol.102
, Issue.6
, pp. 461-465
-
-
Durst, R.1
Rubin-Jabotinksy, K.2
Raskin, S.3
-
94
-
-
19444368664
-
ADHD symptoms and insistence on sameness in Prader-Willi syndrome
-
Wigren M., Hansen S. ADHD symptoms and insistence on sameness in Prader-Willi syndrome. J Intellect Disabil Res 2005, 49(6):449-456.
-
(2005)
J Intellect Disabil Res
, vol.49
, Issue.6
, pp. 449-456
-
-
Wigren, M.1
Hansen, S.2
-
95
-
-
0024619007
-
Angelman and Prader Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
-
Knoll J.H., Nicholls R.D., Magenis R.E., et al. Angelman and Prader Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 1989, 32:285-290.
-
(1989)
Am J Med Genet
, vol.32
, pp. 285-290
-
-
Knoll, J.H.1
Nicholls, R.D.2
Magenis, R.E.3
-
96
-
-
0029867499
-
Diagnostic testing for Prader-Willi and Angelman syndromes: Report of the ASHG/ACMG test and technology transfer committee
-
ASHG/ACMG
-
ASHG/ACMG Diagnostic testing for Prader-Willi and Angelman syndromes: Report of the ASHG/ACMG test and technology transfer committee. Am J Hum Genet 1996, 58:1085-1088.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1085-1088
-
-
-
99
-
-
33644865491
-
Angelman syndrome 2005: updated consensus for diagnostic criteria
-
Williams C.A., Beaudet A.L., Clayton-Smith J., et al. Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet Am 2006, 140:413-418.
-
(2006)
Am J Med Genet Am
, vol.140
, pp. 413-418
-
-
Williams, C.A.1
Beaudet, A.L.2
Clayton-Smith, J.3
-
100
-
-
33748988739
-
Environmental influences on the behavioral phenotype of Angelman syndrome
-
Horsler K., Oliver C. Environmental influences on the behavioral phenotype of Angelman syndrome. Am J Ment Retard 2006, 111(5):311-321.
-
(2006)
Am J Ment Retard
, vol.111
, Issue.5
, pp. 311-321
-
-
Horsler, K.1
Oliver, C.2
-
102
-
-
11244252216
-
Behavioral aspects of Angelman syndrome: a case control study
-
Barry R.J., Leitner R.P., Clarke A.R. Behavioral aspects of Angelman syndrome: a case control study. Am J Med Genet Am 2005, 132(1):8-12.
-
(2005)
Am J Med Genet Am
, vol.132
, Issue.1
, pp. 8-12
-
-
Barry, R.J.1
Leitner, R.P.2
Clarke, A.R.3
-
103
-
-
43449093723
-
Are there distinctive sleep problems in Angelman syndrome?
-
Pelc K., Cheron G., Boyd S.G., et al. Are there distinctive sleep problems in Angelman syndrome?. Sleep Med 2008, 9(4):434-441.
-
(2008)
Sleep Med
, vol.9
, Issue.4
, pp. 434-441
-
-
Pelc, K.1
Cheron, G.2
Boyd, S.G.3
-
104
-
-
0034086554
-
Problem behaviours associated with 15q- Angelman syndrome
-
Clarke D., Marston G. Problem behaviours associated with 15q- Angelman syndrome. Am J Ment Retard 2000, 105:25-31.
-
(2000)
Am J Ment Retard
, vol.105
, pp. 25-31
-
-
Clarke, D.1
Marston, G.2
-
106
-
-
0001447853
-
Supravalvar aortic stenosis in association with mental retardation and a certain facial appearance
-
Buren A.J., Apitz J., Harmjanz D. Supravalvar aortic stenosis in association with mental retardation and a certain facial appearance. Circulation 1962, 27:1235-1240.
-
(1962)
Circulation
, vol.27
, pp. 1235-1240
-
-
Buren, A.J.1
Apitz, J.2
Harmjanz, D.3
-
107
-
-
0001323031
-
Idiopathic hypercalcemia and supravalvar aortic stenosis
-
Garcia R.E., Friedman W.F., Kaback M.M., et al. Idiopathic hypercalcemia and supravalvar aortic stenosis. N Engl J Med 1964, 27:117-120.
-
(1964)
N Engl J Med
, vol.27
, pp. 117-120
-
-
Garcia, R.E.1
Friedman, W.F.2
Kaback, M.M.3
-
108
-
-
0027185655
-
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
-
Ewart A.K., Morris C.A., Atkinson D., et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 1993, 5:11-16.
-
(1993)
Nat Genet
, vol.5
, pp. 11-16
-
-
Ewart, A.K.1
Morris, C.A.2
Atkinson, D.3
-
109
-
-
15844375659
-
LIM-kinase 1 hemizygosity implicated in impaired visuospatial constructive cognition
-
Frangiskakis J.M., Ewart A.K., Morris C.A., et al. LIM-kinase 1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell 1996, 86:59-69.
-
(1996)
Cell
, vol.86
, pp. 59-69
-
-
Frangiskakis, J.M.1
Ewart, A.K.2
Morris, C.A.3
-
110
-
-
10744221593
-
GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region
-
Morris C.A., Mervis C.B., Hobart H.H., et al. GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region. Am J Med Genet Am 2003, 123(1):45-59.
-
(2003)
Am J Med Genet Am
, vol.123
, Issue.1
, pp. 45-59
-
-
Morris, C.A.1
Mervis, C.B.2
Hobart, H.H.3
-
111
-
-
0035025387
-
Health supervision for children with Wiliams syndrome
-
American Academy of Pediatrics Committee on Genetics
-
American Academy of Pediatrics Committee on Genetics Health supervision for children with Wiliams syndrome. Pediatrics 2001, 107:1192-1204.
-
(2001)
Pediatrics
, vol.107
, pp. 1192-1204
-
-
-
112
-
-
0034043239
-
Williams syndrome: cognition, personality and adaptive behavior
-
Mervis C.B., Klein-Tasman B.P. Williams syndrome: cognition, personality and adaptive behavior. Ment Retard Dev Disabil Res Rev 2000, 6(2):148-158.
-
(2000)
Ment Retard Dev Disabil Res Rev
, vol.6
, Issue.2
, pp. 148-158
-
-
Mervis, C.B.1
Klein-Tasman, B.P.2
-
113
-
-
0034046114
-
Hypersociability in Williams syndrome
-
Jones W., Bellugi U., Lai Z., et al. Hypersociability in Williams syndrome. J Cogn Neurosci 2000, 12(Suppl 1):30-46.
-
(2000)
J Cogn Neurosci
, vol.12
, Issue.SUPPL. 1
, pp. 30-46
-
-
Jones, W.1
Bellugi, U.2
Lai, Z.3
-
114
-
-
77952809550
-
Towards the neural basis for hypersociability in a genetic syndrome
-
Bellugi U., Adolphs R., Cassidy C. Towards the neural basis for hypersociability in a genetic syndrome. Neuroreport 1999, 22(5):197-207.
-
(1999)
Neuroreport
, vol.22
, Issue.5
, pp. 197-207
-
-
Bellugi, U.1
Adolphs, R.2
Cassidy, C.3
-
115
-
-
28444434773
-
Is everybody always my friend? Perception of approachability in Williams syndrome
-
Frigerio E., Burt D.M., Gagliardi C. Is everybody always my friend? Perception of approachability in Williams syndrome. Neuropsychologia 2006, 44(2):254-259.
-
(2006)
Neuropsychologia
, vol.44
, Issue.2
, pp. 254-259
-
-
Frigerio, E.1
Burt, D.M.2
Gagliardi, C.3
-
116
-
-
12244310475
-
Facial expression recognition in Williams syndrome
-
Gagliardi C., Frigerio E., Burt D.M., et al. Facial expression recognition in Williams syndrome. Neuropsychologia 2003, 41(6):733-738.
-
(2003)
Neuropsychologia
, vol.41
, Issue.6
, pp. 733-738
-
-
Gagliardi, C.1
Frigerio, E.2
Burt, D.M.3
-
117
-
-
0030821541
-
Personality characteristics and behavior problems in individuals of different ages with Williams syndrome
-
Gosch A., Pankau R. Personality characteristics and behavior problems in individuals of different ages with Williams syndrome. Dev Med Child Neurol 1997, 39(8):527-533.
-
(1997)
Dev Med Child Neurol
, vol.39
, Issue.8
, pp. 527-533
-
-
Gosch, A.1
Pankau, R.2
-
118
-
-
34249946303
-
Social cognition in Williams-Seuren syndrome
-
Johns Hopkins University Press, Baltimore (MD), C.A. Morris, H.M. Lenhoff, P.P. Wang (Eds.)
-
Plesa-Skwerer D., Tager-Flusberg H. Social cognition in Williams-Seuren syndrome. Williams-Beuren syndrome 2006, 237-253. Johns Hopkins University Press, Baltimore (MD). C.A. Morris, H.M. Lenhoff, P.P. Wang (Eds.).
-
(2006)
Williams-Beuren syndrome
, pp. 237-253
-
-
Plesa-Skwerer, D.1
Tager-Flusberg, H.2
-
119
-
-
0037250384
-
Anxiety, fears and phobias in persons with Williams syndrome
-
Dykens E.M. Anxiety, fears and phobias in persons with Williams syndrome. Dev Neuropsychol 2003, 23(1-2):291-316.
-
(2003)
Dev Neuropsychol
, vol.23
, Issue.1-2
, pp. 291-316
-
-
Dykens, E.M.1
-
120
-
-
0027311880
-
The stability of fears in children: a two-year prospective study: a research note
-
Spence S.H., McCathie H. The stability of fears in children: a two-year prospective study: a research note. J Child Psychol Psychiatry 1993, 34(4):579-585.
-
(1993)
J Child Psychol Psychiatry
, vol.34
, Issue.4
, pp. 579-585
-
-
Spence, S.H.1
McCathie, H.2
-
121
-
-
33748946219
-
Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome
-
Leyfer O.T., Woodruff-Borden J., Klein-Tasman B.P., et al. Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome. Am J Med Genet Br 2006, 141(6):615-622.
-
(2006)
Am J Med Genet Br
, vol.141
, Issue.6
, pp. 615-622
-
-
Leyfer, O.T.1
Woodruff-Borden, J.2
Klein-Tasman, B.P.3
-
122
-
-
0031037014
-
Brief report: response to methylphenidate in two children with Williams syndrome
-
Power T.J., Blum N.J., Jones S.M., et al. Brief report: response to methylphenidate in two children with Williams syndrome. J Autism Dev Disord 1997, 27(1):79-87.
-
(1997)
J Autism Dev Disord
, vol.27
, Issue.1
, pp. 79-87
-
-
Power, T.J.1
Blum, N.J.2
Jones, S.M.3
-
123
-
-
0031007521
-
Treatment of children with Williams syndrome with methylphenidate
-
Bawden H.N., MacDonald G.W., Shea S. Treatment of children with Williams syndrome with methylphenidate. J Child Neurol 1997, 12(4):248-252.
-
(1997)
J Child Neurol
, vol.12
, Issue.4
, pp. 248-252
-
-
Bawden, H.N.1
MacDonald, G.W.2
Shea, S.3
-
124
-
-
0031797740
-
Periodic limb movement in sleep in children with Williams syndrome
-
Arens R., Wright B., Elliott J., et al. Periodic limb movement in sleep in children with Williams syndrome. J Pediatr 1998, 133(5):670-674.
-
(1998)
J Pediatr
, vol.133
, Issue.5
, pp. 670-674
-
-
Arens, R.1
Wright, B.2
Elliott, J.3
-
125
-
-
0038419517
-
A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population
-
Botto L.D., May K., Fernhoff P.M., et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 2003, 112:101-107.
-
(2003)
Pediatrics
, vol.112
, pp. 101-107
-
-
Botto, L.D.1
May, K.2
Fernhoff, P.M.3
-
126
-
-
17744395906
-
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome
-
Merscher S., Funke B., Epstein J.A., et al. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell 2001, 104:619-629.
-
(2001)
Cell
, vol.104
, pp. 619-629
-
-
Merscher, S.1
Funke, B.2
Epstein, J.A.3
-
127
-
-
0029745410
-
Association of codon 108/158 catechol-o-methyl transferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome
-
Lachman H.M., Morrow B., Shprintzen R.J., et al. Association of codon 108/158 catechol-o-methyl transferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome. Am J Med Genet 1996, 67:468-472.
-
(1996)
Am J Med Genet
, vol.67
, pp. 468-472
-
-
Lachman, H.M.1
Morrow, B.2
Shprintzen, R.J.3
-
128
-
-
9244234494
-
Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome
-
Sirotkin H., Morrow B., DasGupta, et al. Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome. Hum Mol Genet 1996, 5:617-624.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 617-624
-
-
Sirotkin, H.1
Morrow, B.2
DasGupta3
-
129
-
-
63449115513
-
Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects
-
Sagoo G.S., Butterwort A.S., Sanderson S., et al. Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects. Genet Med 2009, 11(3):139-146.
-
(2009)
Genet Med
, vol.11
, Issue.3
, pp. 139-146
-
-
Sagoo, G.S.1
Butterwort, A.S.2
Sanderson, S.3
-
130
-
-
16944364251
-
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients
-
Carlson C., Sirotkin H., Pandita R., et al. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet 1997, 61:620-629.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 620-629
-
-
Carlson, C.1
Sirotkin, H.2
Pandita, R.3
-
131
-
-
27744574086
-
Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2
-
Rauch A., Zink S., Zweier, et al. Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2. J Med Genet 2005, 42:871-876.
-
(2005)
J Med Genet
, vol.42
, pp. 871-876
-
-
Rauch, A.1
Zink, S.2
Zweier3
-
132
-
-
0032545207
-
Familial deletions of 22q11.2: the Leuven experience
-
Swillen A., Devriendt K., Vantrappen G., et al. Familial deletions of 22q11.2: the Leuven experience. An J Med Genet 1998, 80:531-532.
-
(1998)
An J Med Genet
, vol.80
, pp. 531-532
-
-
Swillen, A.1
Devriendt, K.2
Vantrappen, G.3
-
133
-
-
32744472831
-
Velo-cardio-facial syndrome
-
Marcel Dekker, New York, M.G. Butler, F.J. Meaney (Eds.)
-
Kates W.R., Antshel K., Roizen N., et al. Velo-cardio-facial syndrome. Genetics of developmental disabilities 2004, Marcel Dekker, New York, p. 383-418. M.G. Butler, F.J. Meaney (Eds.).
-
(2004)
Genetics of developmental disabilities
, pp. 383-418
-
-
Kates, W.R.1
Antshel, K.2
Roizen, N.3
-
134
-
-
0002026128
-
Vascular anomalies may explain many of the features of velo-cardio-facial syndrome
-
Shprintzen R.J., Morrow B., Kucherlapati R. Vascular anomalies may explain many of the features of velo-cardio-facial syndrome. Am J Hum Genet 1997, 61:34A.
-
(1997)
Am J Hum Genet
, vol.61
-
-
Shprintzen, R.J.1
Morrow, B.2
Kucherlapati, R.3
-
135
-
-
0028019184
-
Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2
-
Matsuoka R., Takao A., Kimura M., et al. Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2. Am J Med Genet 1994, 53:285-289.
-
(1994)
Am J Med Genet
, vol.53
, pp. 285-289
-
-
Matsuoka, R.1
Takao, A.2
Kimura, M.3
-
136
-
-
0029148704
-
Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion
-
McDonald-McGinn D.M., Driscoll D.A., Bason L., et al. Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. Am J Med Genet 1995, 59:103-113.
-
(1995)
Am J Med Genet
, vol.59
, pp. 103-113
-
-
McDonald-McGinn, D.M.1
Driscoll, D.A.2
Bason, L.3
-
137
-
-
0027984160
-
Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype
-
Giannotti A., Digilio M.C., Marino B., et al. Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype. Am J Med Genet 1994, 53:303-304.
-
(1994)
Am J Med Genet
, vol.53
, pp. 303-304
-
-
Giannotti, A.1
Digilio, M.C.2
Marino, B.3
-
138
-
-
0034037817
-
Research on behavioral phenotypes: velocardiofacial syndrome
-
Wang P.P., Woodlin M.F., Kreps-Falk R., et al. Research on behavioral phenotypes: velocardiofacial syndrome. Dev Med Child Neurol 2000, 42(6):422-427.
-
(2000)
Dev Med Child Neurol
, vol.42
, Issue.6
, pp. 422-427
-
-
Wang, P.P.1
Woodlin, M.F.2
Kreps-Falk, R.3
-
139
-
-
0019352243
-
The velo-cardio-facial syndrome: a clinical and genetic analysis
-
Shprintzen R.J., Goldberg R.B., Young D., et al. The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics 1981, 67(2):167-172.
-
(1981)
Pediatrics
, vol.67
, Issue.2
, pp. 167-172
-
-
Shprintzen, R.J.1
Goldberg, R.B.2
Young, D.3
-
141
-
-
0037084412
-
Psychiatric disorders and behavioral problems in children with velocardiofacial syndrome: usefulness as phenotypic indicators of schizophrenia risk
-
Feinstein C., Eliez S., Blasey C., et al. Psychiatric disorders and behavioral problems in children with velocardiofacial syndrome: usefulness as phenotypic indicators of schizophrenia risk. Biol Psychol 2002, 51(4):312-318.
-
(2002)
Biol Psychol
, vol.51
, Issue.4
, pp. 312-318
-
-
Feinstein, C.1
Eliez, S.2
Blasey, C.3
-
142
-
-
34247503348
-
Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome
-
Gothelf D., Feinstein C., Thompson T., et al. Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome. Am J Psychiatry 2007, 164(4):663-669.
-
(2007)
Am J Psychiatry
, vol.164
, Issue.4
, pp. 663-669
-
-
Gothelf, D.1
Feinstein, C.2
Thompson, T.3
-
143
-
-
12144289483
-
Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome
-
Gothelf D., Presburger G., Zohar A.H., et al. Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome. Am J Med Genet 2004, 126B(1):99-105.
-
(2004)
Am J Med Genet
, vol.126 B
, Issue.1
, pp. 99-105
-
-
Gothelf, D.1
Presburger, G.2
Zohar, A.H.3
-
144
-
-
0035746483
-
Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion
-
Woodlin M., Wang P.P., Aleman D., et al. Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion. Genet Med 2001, 3(1):34-39.
-
(2001)
Genet Med
, vol.3
, Issue.1
, pp. 34-39
-
-
Woodlin, M.1
Wang, P.P.2
Aleman, D.3
-
145
-
-
33748426974
-
The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms
-
Vorstman J.A., Morcus M.E., Duijff S.N., et al. The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms. J Am Acad Child Adolesc Psychiatry 2006, 45(9):1104-1113.
-
(2006)
J Am Acad Child Adolesc Psychiatry
, vol.45
, Issue.9
, pp. 1104-1113
-
-
Vorstman, J.A.1
Morcus, M.E.2
Duijff, S.N.3
-
146
-
-
0033545227
-
Clinical characteristics of schizophrenia associated with velo-cardio-facial syndrome
-
Gothelf D., Frisch A., Munitz H., et al. Clinical characteristics of schizophrenia associated with velo-cardio-facial syndrome. Schizophr Res 1999, 35(2):105-112.
-
(1999)
Schizophr Res
, vol.35
, Issue.2
, pp. 105-112
-
-
Gothelf, D.1
Frisch, A.2
Munitz, H.3
-
147
-
-
0027989917
-
Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives
-
Pulver A.E., Nestadt G., Goldberg R. Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. J Nerv Ment Dis 1994, 182(8):476-478.
-
(1994)
J Nerv Ment Dis
, vol.182
, Issue.8
, pp. 476-478
-
-
Pulver, A.E.1
Nestadt, G.2
Goldberg, R.3
-
148
-
-
11144354655
-
22q11 deletion syndrome in childhood onset schizophrenia: an update
-
Sporn A., Addington A., Reiss A.L., et al. 22q11 deletion syndrome in childhood onset schizophrenia: an update. Mol Psychiatry 2004, 9(3):225-226.
-
(2004)
Mol Psychiatry
, vol.9
, Issue.3
, pp. 225-226
-
-
Sporn, A.1
Addington, A.2
Reiss, A.L.3
-
149
-
-
34247842799
-
Association of the low-activity COMT 158Met allele with ADHD and OCD in subjects with velocardiofacial syndrome
-
Gothelf D., Michaelovsky E., Frisch A., et al. Association of the low-activity COMT 158Met allele with ADHD and OCD in subjects with velocardiofacial syndrome. Int J Neuropsychopharmacol 2007, 10(3):301-308.
-
(2007)
Int J Neuropsychopharmacol
, vol.10
, Issue.3
, pp. 301-308
-
-
Gothelf, D.1
Michaelovsky, E.2
Frisch, A.3
-
150
-
-
1842548040
-
Methylphenidate treatment for attention-deficit/hyperactivity disorder in children and adolescents with velocardiofacial syndrome: an open-label study
-
Gothelf D., Gruber R., Presburger G., et al. Methylphenidate treatment for attention-deficit/hyperactivity disorder in children and adolescents with velocardiofacial syndrome: an open-label study. J Clin Psychiatry 2003, 64(10):1163-1169.
-
(2003)
J Clin Psychiatry
, vol.64
, Issue.10
, pp. 1163-1169
-
-
Gothelf, D.1
Gruber, R.2
Presburger, G.3
-
151
-
-
0035859844
-
Catecholamines in patients with 22q11.2 deletion syndrome and the low-activity COMT polymorphism
-
Graf W.D., As Unis, Yates C.M., et al. Catecholamines in patients with 22q11.2 deletion syndrome and the low-activity COMT polymorphism. Neurology 2001, 57(3):410-416.
-
(2001)
Neurology
, vol.57
, Issue.3
, pp. 410-416
-
-
Graf, W.D.1
As, U.2
Yates, C.M.3
-
152
-
-
0001403971
-
Deletion of the 17 short arm in two patients with facial clefts
-
Smith A.C.M., McGavran L., Waldstein G. Deletion of the 17 short arm in two patients with facial clefts. Am J Med Genet 1982, 34(Suppl):A410.
-
(1982)
Am J Med Genet
, vol.34
, Issue.SUPPL.
-
-
Smith, A.C.M.1
McGavran, L.2
Waldstein, G.3
-
153
-
-
0022543280
-
Interstitial deletion of (17) (p11.2p11.2) in nine patients
-
Smith A.C.M., McGavran L., Robinson J., et al. Interstitial deletion of (17) (p11.2p11.2) in nine patients. Am J Med Genet 1986, 24:393-414.
-
(1986)
Am J Med Genet
, vol.24
, pp. 393-414
-
-
Smith, A.C.M.1
McGavran, L.2
Robinson, J.3
-
154
-
-
0022477656
-
Interstitial deletion of (17) (p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome
-
Stratton R.F., Dobns W.B., Greenberg F., et al. Interstitial deletion of (17) (p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome. Am J Med Genet 1986, 24:421-432.
-
(1986)
Am J Med Genet
, vol.24
, pp. 421-432
-
-
Stratton, R.F.1
Dobns, W.B.2
Greenberg, F.3
-
155
-
-
0031051601
-
Chromosome deletion 17p11.2 (Smith-Magenis syndrome) in seven new patients, four of whom had been referred for fragile X investigation
-
Behjati F., Mullarkey M., Bergbaum A., et al. Chromosome deletion 17p11.2 (Smith-Magenis syndrome) in seven new patients, four of whom had been referred for fragile X investigation. Clin Genet 1997, 51:71-74.
-
(1997)
Clin Genet
, vol.51
, pp. 71-74
-
-
Behjati, F.1
Mullarkey, M.2
Bergbaum, A.3
-
156
-
-
0031429540
-
Definition of the critical interval for Smith-Magenis syndrome
-
Elsea S.H., Purandare S.M., Adell R.A., et al. Definition of the critical interval for Smith-Magenis syndrome. Cytogenet Cell Genet 1977, 79:276-281.
-
(1977)
Cytogenet Cell Genet
, vol.79
, pp. 276-281
-
-
Elsea, S.H.1
Purandare, S.M.2
Adell, R.A.3
-
157
-
-
0035713153
-
Genomic organization of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis
-
Lucas R.E., Vlangos C.N., Das P., et al. Genomic organization of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis. Eur J Hum Genet 2001, 9:892-902.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 892-902
-
-
Lucas, R.E.1
Vlangos, C.N.2
Das, P.3
-
158
-
-
0036099554
-
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse
-
Bi W., Yan J., Stankiewicz P., et al. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res 2002, 12:713-728.
-
(2002)
Genome Res
, vol.12
, pp. 713-728
-
-
Bi, W.1
Yan, J.2
Stankiewicz, P.3
-
159
-
-
0037603172
-
Refinement of the Smith-Magenis syndrome critical region to ∼950kb and assessment of 17p11.2 deletions. Are all deletions created equally?
-
Vlangos C.N., Yim D.K.C., Elsea S.H. Refinement of the Smith-Magenis syndrome critical region to ∼950kb and assessment of 17p11.2 deletions. Are all deletions created equally?. Mol Genet Metab 2003, 79(2):134-141.
-
(2003)
Mol Genet Metab
, vol.79
, Issue.2
, pp. 134-141
-
-
Vlangos, C.N.1
Yim, D.K.C.2
Elsea, S.H.3
-
160
-
-
0344466705
-
Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]
-
Potocki L., Shaw C.J., Stankiewicz P., et al. Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. Genet Med 2003, 5(6):430-434.
-
(2003)
Genet Med
, vol.5
, Issue.6
, pp. 430-434
-
-
Potocki, L.1
Shaw, C.J.2
Stankiewicz, P.3
-
161
-
-
0344177207
-
Mutations in RAI1 associated with Smith-Magenis syndrome
-
Slager R.E., Newton T.L., Vlangos C.N., et al. Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet 2003, 33:466-468.
-
(2003)
Nat Genet
, vol.33
, pp. 466-468
-
-
Slager, R.E.1
Newton, T.L.2
Vlangos, C.N.3
-
162
-
-
33646160336
-
Smith Magenis syndrome: aspects of the infant phenotype
-
Gropman A., Smith A.C.M., Allanson J., et al. Smith Magenis syndrome: aspects of the infant phenotype. Am J Hum Genet 1998, 63(Suppl):A19.
-
(1998)
Am J Hum Genet
, vol.63
, Issue.SUPPL.
-
-
Gropman, A.1
Smith, A.C.M.2
Allanson, J.3
-
163
-
-
33646138847
-
Neurodevelopmental assessment and functioning in five young children with Smith-Magenis syndrome
-
Gropman A., Wolters P., Smith A.C.M. Neurodevelopmental assessment and functioning in five young children with Smith-Magenis syndrome. Am J Hum Genet 1999, 65(Suppl):A141.
-
(1999)
Am J Hum Genet
, vol.65
, Issue.SUPPL.
-
-
Gropman, A.1
Wolters, P.2
Smith, A.C.M.3
-
164
-
-
0035207224
-
Abilities and attainment in Smith-Magenis syndrome
-
Udwin O., Webber C., Horn I. Abilities and attainment in Smith-Magenis syndrome. Dev Med Child Neurol 2001, 43(12):823-828.
-
(2001)
Dev Med Child Neurol
, vol.43
, Issue.12
, pp. 823-828
-
-
Udwin, O.1
Webber, C.2
Horn, I.3
-
165
-
-
33748263765
-
Cognitive and adaptive behavior profiles in Smith-Magenis syndrome
-
Madduri N., Peters S.U., Voigt R.G., et al. Cognitive and adaptive behavior profiles in Smith-Magenis syndrome. J Dev Behav Pediatr 2006, 27(3):188-192.
-
(2006)
J Dev Behav Pediatr
, vol.27
, Issue.3
, pp. 188-192
-
-
Madduri, N.1
Peters, S.U.2
Voigt, R.G.3
-
166
-
-
0031115936
-
Brief report: cognitive and behavioral profiles in persons with Smith-Magenis syndrome
-
Dykens E.M., Finucane B.M., Gayley C. Brief report: cognitive and behavioral profiles in persons with Smith-Magenis syndrome. J Autism Dev Disord 1997, 27(2):203-211.
-
(1997)
J Autism Dev Disord
, vol.27
, Issue.2
, pp. 203-211
-
-
Dykens, E.M.1
Finucane, B.M.2
Gayley, C.3
-
167
-
-
0032574468
-
Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2)
-
Smith A.C., Dykens E., Greenberg F. Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2). Am J Med Genet 1998, 81(2):179-185.
-
(1998)
Am J Med Genet
, vol.81
, Issue.2
, pp. 179-185
-
-
Smith, A.C.1
Dykens, E.2
Greenberg, F.3
-
168
-
-
0034845962
-
Beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome
-
De Leersnyder H., de Blois M.C., Vekemans M., et al. Beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome. J Med Genet 2001, 38(9):586-590.
-
(2001)
J Med Genet
, vol.38
, Issue.9
, pp. 586-590
-
-
De Leersnyder, H.1
de Blois, M.C.2
Vekemans, M.3
-
169
-
-
33747831387
-
Inverted rhythm of melatonin secretion in Smith-Magenis syndrome: from symptoms to treatment
-
De Leersnyder H. Inverted rhythm of melatonin secretion in Smith-Magenis syndrome: from symptoms to treatment. Trends Endocrinol Metab 2006, 17(7):291-298.
-
(2006)
Trends Endocrinol Metab
, vol.17
, Issue.7
, pp. 291-298
-
-
De Leersnyder, H.1
-
170
-
-
0035114739
-
Characterization of self-injurious behaviors in children and adults with Smith-Magenis syndrome
-
Finucane B., Dirrigi K.H., Simon E.W. Characterization of self-injurious behaviors in children and adults with Smith-Magenis syndrome. Am J Ment Retard 2001, 106(1):52-58.
-
(2001)
Am J Ment Retard
, vol.106
, Issue.1
, pp. 52-58
-
-
Finucane, B.1
Dirrigi, K.H.2
Simon, E.W.3
-
171
-
-
0028123806
-
The spasmodic upper-body squeeze: a characteristic behavior in Smith-Magenis syndrome
-
Finucane B.M., Konar D., Haas-Givler B. The spasmodic upper-body squeeze: a characteristic behavior in Smith-Magenis syndrome. Dev Med Child Neurol 1994, 36(1):78-83.
-
(1994)
Dev Med Child Neurol
, vol.36
, Issue.1
, pp. 78-83
-
-
Finucane, B.M.1
Konar, D.2
Haas-Givler, B.3
-
172
-
-
54049083858
-
The behavioural phenotype of Smith-Magenis syndrome: evidence for a gene-environment interaction
-
Taylor L., Oliver C. The behavioural phenotype of Smith-Magenis syndrome: evidence for a gene-environment interaction. J Intellect Disabil Res 2008, 52(10):830-841.
-
(2008)
J Intellect Disabil Res
, vol.52
, Issue.10
, pp. 830-841
-
-
Taylor, L.1
Oliver, C.2
-
173
-
-
0032457871
-
Distinctiveness and correlates of maladaptive behavior in children and adolescents with Smith-Magenis syndrome
-
Dykens E.M., Smith A.C. Distinctiveness and correlates of maladaptive behavior in children and adolescents with Smith-Magenis syndrome. J Intellect Disabil Res 1998, 42(Pt 6):481-489.
-
(1998)
J Intellect Disabil Res
, vol.42
, Issue.PART 6
, pp. 481-489
-
-
Dykens, E.M.1
Smith, A.C.2
-
174
-
-
34948843016
-
Efficacy of risperidone treatment in Smith-Magenis syndrome
-
Niederhofer H. Efficacy of risperidone treatment in Smith-Magenis syndrome. Psychiatr Danub 2007, 19(3):189-192.
-
(2007)
Psychiatr Danub
, vol.19
, Issue.3
, pp. 189-192
-
-
Niederhofer, H.1
-
176
-
-
0028081732
-
Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome
-
Gotzsche C.O., Krag-Olsen B., Nielsen J., et al. Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome. Arch Dis Child 1994, 71:433-436.
-
(1994)
Arch Dis Child
, vol.71
, pp. 433-436
-
-
Gotzsche, C.O.1
Krag-Olsen, B.2
Nielsen, J.3
-
177
-
-
0018936072
-
The association of inflammatory bowel disease and X chromosome abnormality
-
Arulanantham K., Kramer M.S., Gryboski J.D. The association of inflammatory bowel disease and X chromosome abnormality. Pediatrics 1980, 66:63-67.
-
(1980)
Pediatrics
, vol.66
, pp. 63-67
-
-
Arulanantham, K.1
Kramer, M.S.2
Gryboski, J.D.3
-
178
-
-
0022529677
-
Age-related anti-thyroid antibodies and thyroid abnormalities in Turner syndrome
-
Germain E.L., Plotnick L.P. Age-related anti-thyroid antibodies and thyroid abnormalities in Turner syndrome. Acta Paediatr Scand 1986, 75:750-755.
-
(1986)
Acta Paediatr Scand
, vol.75
, pp. 750-755
-
-
Germain, E.L.1
Plotnick, L.P.2
-
179
-
-
0024240044
-
Renal malformations in patients with Turner syndrome: Imaging in 141 patients
-
Lippe B., Geffner M.E., Dietrich R.B., et al. Renal malformations in patients with Turner syndrome: Imaging in 141 patients. Pediatrics 1988, 82:852-856.
-
(1988)
Pediatrics
, vol.82
, pp. 852-856
-
-
Lippe, B.1
Geffner, M.E.2
Dietrich, R.B.3
-
180
-
-
0028883886
-
Health supervision for children with Turner syndrome
-
American Academy of Pediatrics Committee on Genetics
-
American Academy of Pediatrics Committee on Genetics Health supervision for children with Turner syndrome. Pediatrics 1995, 96:1166-1173.
-
(1995)
Pediatrics
, vol.96
, pp. 1166-1173
-
-
-
181
-
-
0037154183
-
Persistent cognitive deficits in adult women with Turner syndrome
-
Ross J.L., Stefanatos G.A., Kushner H., et al. Persistent cognitive deficits in adult women with Turner syndrome. Neurology 2002, 58(2):218-225.
-
(2002)
Neurology
, vol.58
, Issue.2
, pp. 218-225
-
-
Ross, J.L.1
Stefanatos, G.A.2
Kushner, H.3
-
182
-
-
33748765792
-
Increased Prevalence of ADHD in Turner syndrome with no evidence of imprinting effects
-
Russell H.F., Wallis D., Mazzocco M.M., et al. Increased Prevalence of ADHD in Turner syndrome with no evidence of imprinting effects. J Pediatr Psychol 2006, 31(9):945-955.
-
(2006)
J Pediatr Psychol
, vol.31
, Issue.9
, pp. 945-955
-
-
Russell, H.F.1
Wallis, D.2
Mazzocco, M.M.3
-
183
-
-
0031928372
-
The psychological consequences of Turner syndrome and review of the National Cooperative Growth Study psychological substudy
-
Siegel P.T., Clopper R., Stabler B. The psychological consequences of Turner syndrome and review of the National Cooperative Growth Study psychological substudy. Pediatrics 1998, 102(2 Pt 3):488-491.
-
(1998)
Pediatrics
, vol.102
, Issue.2 PART 3
, pp. 488-491
-
-
Siegel, P.T.1
Clopper, R.2
Stabler, B.3
-
184
-
-
0032422607
-
Social functioning among girls with Fragile X or Turner syndrome and their sisters
-
Mazzocco M.M., Baumgardner T., Freund L.S., et al. Social functioning among girls with Fragile X or Turner syndrome and their sisters. J Autism Dev Disord 1998, 28(6):509-517.
-
(1998)
J Autism Dev Disord
, vol.28
, Issue.6
, pp. 509-517
-
-
Mazzocco, M.M.1
Baumgardner, T.2
Freund, L.S.3
-
185
-
-
0023322047
-
The Turner syndrome: cognitive deficits, affective discrimination, and behavior problems
-
McCauley E., Kay T., Ito J., et al. The Turner syndrome: cognitive deficits, affective discrimination, and behavior problems. Child Dev 1987, 58(2):464-473.
-
(1987)
Child Dev
, vol.58
, Issue.2
, pp. 464-473
-
-
McCauley, E.1
Kay, T.2
Ito, J.3
-
186
-
-
0029080847
-
Ullrich-Turner syndrome: neurodevelopmental changes from childhood through adolescence
-
Ross J.L., Stefanatos G., Roeltgen D., et al. Ullrich-Turner syndrome: neurodevelopmental changes from childhood through adolescence. Am J Med Genet 1995, 58(1):74-82.
-
(1995)
Am J Med Genet
, vol.58
, Issue.1
, pp. 74-82
-
-
Ross, J.L.1
Stefanatos, G.2
Roeltgen, D.3
-
187
-
-
0942301378
-
Enlarged temporal lobes in Turner syndrome: an X-chromosome effect?
-
Rae C., Joy P., Harasty J., et al. Enlarged temporal lobes in Turner syndrome: an X-chromosome effect?. Cereb Cortex 2004, 14(2):156-164.
-
(2004)
Cereb Cortex
, vol.14
, Issue.2
, pp. 156-164
-
-
Rae, C.1
Joy, P.2
Harasty, J.3
-
188
-
-
0344837400
-
Interpreting gaze in Turner syndrome: impaired sensitivity to intention and emotion, but preservation of social cueing
-
Lawrence K., Campbell R., Swettenham J. Interpreting gaze in Turner syndrome: impaired sensitivity to intention and emotion, but preservation of social cueing. Neuropsychologia 2003, 41(8):894-905.
-
(2003)
Neuropsychologia
, vol.41
, Issue.8
, pp. 894-905
-
-
Lawrence, K.1
Campbell, R.2
Swettenham, J.3
-
189
-
-
24344445919
-
Functional dissociation of amygdale-modulated arousal and cognitive appraisal in Turner syndrome
-
Skuse D.H., Morris J.S., Dolan R.J. Functional dissociation of amygdale-modulated arousal and cognitive appraisal in Turner syndrome. Brain 2005, 128(pt 9):2084-2096.
-
(2005)
Brain
, vol.128
, Issue.PART 9
, pp. 2084-2096
-
-
Skuse, D.H.1
Morris, J.S.2
Dolan, R.J.3
-
191
-
-
0028118508
-
Self-injury in Lesch-Nyhan disease
-
Anderson L.T., Ernst M. Self-injury in Lesch-Nyhan disease. J Autism Dev Disord 1994, 24(1):67-81.
-
(1994)
J Autism Dev Disord
, vol.24
, Issue.1
, pp. 67-81
-
-
Anderson, L.T.1
Ernst, M.2
-
192
-
-
77952845210
-
-
Oxford University Press, New York
-
Harris J.C. Developmental neuropsychiatry 1995, vol II. Oxford University Press, New York, p. 307.
-
(1995)
Developmental neuropsychiatry
, vol.2
, pp. 307
-
-
Harris, J.C.1
-
193
-
-
0037304801
-
Disappearance of self-mutilating behavior in a patient with Lesch-Nyhan syndrome after bilateral chronic stimulation of the globus pallidus interna
-
Taira T., Kobayashi T., Hori T. Disappearance of self-mutilating behavior in a patient with Lesch-Nyhan syndrome after bilateral chronic stimulation of the globus pallidus interna. J Neurosurg 2003, 98(2):414-416.
-
(2003)
J Neurosurg
, vol.98
, Issue.2
, pp. 414-416
-
-
Taira, T.1
Kobayashi, T.2
Hori, T.3
-
194
-
-
0001168164
-
A familial disorder of uric acid metabolism and central nervous system dysfunction
-
Lesch M., Nyhan W.L. A familial disorder of uric acid metabolism and central nervous system dysfunction. Am J Med 1964, 36:561-570.
-
(1964)
Am J Med
, vol.36
, pp. 561-570
-
-
Lesch, M.1
Nyhan, W.L.2
-
195
-
-
0031862013
-
Factors affecting cognitive, motor, behavioral and executive functioning in children with phenylketonuria
-
Arnold G.L., Kramer B.M., Kirby R.S., et al. Factors affecting cognitive, motor, behavioral and executive functioning in children with phenylketonuria. Acta Paediatr 1998, 87:565-570.
-
(1998)
Acta Paediatr
, vol.87
, pp. 565-570
-
-
Arnold, G.L.1
Kramer, B.M.2
Kirby, R.S.3
-
196
-
-
0031447781
-
Executive function and psychosocial adjustment in children with early treated phenylketonuria; correlation with historical and concurrent phenylalanine levels
-
Griffiths P., Tarrini M., Robinson P. Executive function and psychosocial adjustment in children with early treated phenylketonuria; correlation with historical and concurrent phenylalanine levels. J Intellect Disabil Res 1997, 41:317-323.
-
(1997)
J Intellect Disabil Res
, vol.41
, pp. 317-323
-
-
Griffiths, P.1
Tarrini, M.2
Robinson, P.3
-
197
-
-
1842328552
-
Psychiatric disorders in adult patients with early-treated phenylketonuria
-
Pietz J., Fatkenheur B., Burgard P., et al. Psychiatric disorders in adult patients with early-treated phenylketonuria. Pediatrics 1997, 99:345-350.
-
(1997)
Pediatrics
, vol.99
, pp. 345-350
-
-
Pietz, J.1
Fatkenheur, B.2
Burgard, P.3
-
198
-
-
0022537493
-
Psychiatric diagnosis and behavioral characteristics of phenylketonuric children
-
Realmuto G., Garfinkle B.D., Tuchman M., et al. Psychiatric diagnosis and behavioral characteristics of phenylketonuric children. J Nerv Ment Dis 1986, 174:536-540.
-
(1986)
J Nerv Ment Dis
, vol.174
, pp. 536-540
-
-
Realmuto, G.1
Garfinkle, B.D.2
Tuchman, M.3
-
199
-
-
0021991742
-
Loss of intellectual function in children with phenylketonuria after relaxation of dietary phenylalanine restriction
-
Seashore M.R., Freidman E., Novelly R.A., et al. Loss of intellectual function in children with phenylketonuria after relaxation of dietary phenylalanine restriction. Pediatrics 1985, 75:226-232.
-
(1985)
Pediatrics
, vol.75
, pp. 226-232
-
-
Seashore, M.R.1
Freidman, E.2
Novelly, R.A.3
-
200
-
-
0031593357
-
Benefits of normalizing plasma phenylalanine: impact on behavior and health
-
Williams K. Benefits of normalizing plasma phenylalanine: impact on behavior and health. J Inherit Metab Dis 1998, 21:785-790.
-
(1998)
J Inherit Metab Dis
, vol.21
, pp. 785-790
-
-
Williams, K.1
-
201
-
-
49149086386
-
Neurologic damage and neurocognitive dysfunction in urea cycle disorders
-
Enns G.M. Neurologic damage and neurocognitive dysfunction in urea cycle disorders. Semin Pediatr Neurol 2008, 15(3):132-139.
-
(2008)
Semin Pediatr Neurol
, vol.15
, Issue.3
, pp. 132-139
-
-
Enns, G.M.1
-
202
-
-
1642547106
-
Cognitive outcome in urea cycle disorders
-
Gropman A.L., Batshaw M.L. Cognitive outcome in urea cycle disorders. Mol Genet Metab 2004, 81:S58-S62.
-
(2004)
Mol Genet Metab
, vol.81
-
-
Gropman, A.L.1
Batshaw, M.L.2
|