-
1
-
-
0031461901
-
Voice, speech and language characteristics of children with Prader-Willi syndrome
-
Akefeldt A., Akefeldt B. & Gillberg C. (1997) Voice, speech and language characteristics of children with Prader-Willi syndrome. Journal of Intellectual Disability Research 41 (Pt 4), 302-311.
-
(1997)
Journal of Intellectual Disability Research
, vol.41
, Issue.PART. 4
, pp. 302-311
-
-
Akefeldt, A.1
Akefeldt, B.2
Gillberg, C.3
-
2
-
-
7744229511
-
Brain anatomy in adults with velocardiofacial syndrome with and without schizophrenia: preliminary results of a structural magnetic resonance imaging study
-
van Amelsvoort T., Daly E., Henry J., Robertson D., Ng V., Owen M., Murphy K. C. & Murphy D. G. (2004) Brain anatomy in adults with velocardiofacial syndrome with and without schizophrenia: preliminary results of a structural magnetic resonance imaging study. Archives of General Psychiatry 61, 1085-1096.
-
(2004)
Archives of General Psychiatry
, vol.61
, pp. 1085-1096
-
-
van Amelsvoort, T.1
Daly, E.2
Henry, J.3
Robertson, D.4
Ng, V.5
Owen, M.6
Murphy, K.C.7
Murphy, D.G.8
-
3
-
-
0032830639
-
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
-
Amir R. E., Van den Veyver I. B., Wan M., Tran C. Q., Francke U. & Zoghbi H. Y. (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics 23, 185-188.
-
(1999)
Nature Genetics
, vol.23
, 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
-
4
-
-
61349149897
-
A cross-syndrome study of the development of holistic face recognition in children with autism, Down syndrome, and Williams syndrome
-
Annaz D., Karmiloff-Smith A., Johnson M. H. & Thomas M. S. (2009) A cross-syndrome study of the development of holistic face recognition in children with autism, Down syndrome, and Williams syndrome. Journal of Experimental Child Psychology 102, 456-486.
-
(2009)
Journal of Experimental Child Psychology
, vol.102
, pp. 456-486
-
-
Annaz, D.1
Karmiloff-Smith, A.2
Johnson, M.H.3
Thomas, M.S.4
-
5
-
-
5044234361
-
Chromosome 21 and down syndrome: from genomics to pathophysiology
-
Antonarakis S. E., Lyle R., Dermitzakis E. T., Reymond A. & Deutsch S. (2004) Chromosome 21 and down syndrome: from genomics to pathophysiology. Nature Reviews. Genetics 5, 725-738.
-
(2004)
Nature Reviews. Genetics
, vol.5
, pp. 725-738
-
-
Antonarakis, S.E.1
Lyle, R.2
Dermitzakis, E.T.3
Reymond, A.4
Deutsch, S.5
-
6
-
-
17144376823
-
22q11.2 deletion syndrome: genetics, neuroanatomy and cognitive/behavioral features keywords
-
Antshel K. M., Kates W. R., Roizen N., Fremont W. & Shprintzen R. J. (2005) 22q11.2 deletion syndrome: genetics, neuroanatomy and cognitive/behavioral features keywords. Child Neuropsychology 11, 5-19.
-
(2005)
Child Neuropsychology
, vol.11
, pp. 5-19
-
-
Antshel, K.M.1
Kates, W.R.2
Roizen, N.3
Fremont, W.4
Shprintzen, R.J.5
-
7
-
-
0030741791
-
A specific deficit of dorsal stream function in Williams' syndrome
-
Atkinson J., King J., Braddick O., Nokes L., Anker S. & Braddick F. (1997) A specific deficit of dorsal stream function in Williams' syndrome. Neuroreport 8, 1919-1922.
-
(1997)
Neuroreport
, vol.8
, pp. 1919-1922
-
-
Atkinson, J.1
King, J.2
Braddick, O.3
Nokes, L.4
Anker, S.5
Braddick, F.6
-
8
-
-
0034999162
-
Visual and visuospatial development in young children with Williams syndrome
-
Atkinson J., Anker S., Braddick O., Nokes L., Mason A. & Braddick F. (2001) Visual and visuospatial development in young children with Williams syndrome. Developmental Medicine and Child Neurology 43, 330-337.
-
(2001)
Developmental Medicine and Child Neurology
, vol.43
, pp. 330-337
-
-
Atkinson, J.1
Anker, S.2
Braddick, O.3
Nokes, L.4
Mason, A.5
Braddick, F.6
-
9
-
-
33846952861
-
Correlative study of the cognitive impairment, regional cerebral blood flow, and electroencephalogram abnormalities in children with Down's syndrome
-
Aydin M., Kabakus N., Balci T. A. & Ayar A. (2007) Correlative study of the cognitive impairment, regional cerebral blood flow, and electroencephalogram abnormalities in children with Down's syndrome. International Journal of Neuroscience 117, 327-336.
-
(2007)
International Journal of Neuroscience
, vol.117
, pp. 327-336
-
-
Aydin, M.1
Kabakus, N.2
Balci, T.A.3
Ayar, A.4
-
10
-
-
0031041335
-
Cerebellar volume in adults with Down syndrome
-
Aylward E. H., Habbak R., Warren A. C., Pulsifer M. B., Barta P. E., Jerram M. & Pearlson G. D. (1997) Cerebellar volume in adults with Down syndrome. Archives of Neurology 54, 209-212.
-
(1997)
Archives of Neurology
, vol.54
, pp. 209-212
-
-
Aylward, E.H.1
Habbak, R.2
Warren, A.C.3
Pulsifer, M.B.4
Barta, P.E.5
Jerram, M.6
Pearlson, G.D.7
-
11
-
-
0032927816
-
MRI volumes of the hippocampus and amygdala in adults with Down's syndrome with and without dementia
-
Aylward E. H., Li Q., Honeycutt N. A., Warren A. C., Pulsifer M. B., Barta P. E., Chan M. D., Smith P. D., Jerram M. & Pearlson G. D. (1999a) MRI volumes of the hippocampus and amygdala in adults with Down's syndrome with and without dementia. American Journal of Psychiatry 156, 564-568.
-
(1999)
American Journal of Psychiatry
, vol.156
, pp. 564-568
-
-
Aylward, E.H.1
Li, Q.2
Honeycutt, N.A.3
Warren, A.C.4
Pulsifer, M.B.5
Barta, P.E.6
Chan, M.D.7
Smith, P.D.8
Jerram, M.9
Pearlson, G.D.10
-
12
-
-
0032787063
-
MRI volumes of amygdala and hippocampus in non-mentally retarded autistic adolescents and adults
-
Aylward E. H., Minshew N. J., Goldstein G., Honeycutt N. A., Augustine A. M., Yates K. O., Barta P. E. & Pearlson G. D. (1999b) MRI volumes of amygdala and hippocampus in non-mentally retarded autistic adolescents and adults. Neurology 53, 2145-2150.
-
(1999)
Neurology
, vol.53
, pp. 2145-2150
-
-
Aylward, E.H.1
Minshew, N.J.2
Goldstein, G.3
Honeycutt, N.A.4
Augustine, A.M.5
Yates, K.O.6
Barta, P.E.7
Pearlson, G.D.8
-
13
-
-
0038417101
-
White matter tract alterations in fragile X syndrome: preliminary evidence from diffusion tensor imaging
-
Barnea-Goraly N., Eliez S., Hedeus M., Menon V., White C. D., Moseley M. & Reiss A. L. (2003a) White matter tract alterations in fragile X syndrome: preliminary evidence from diffusion tensor imaging. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics 118B, 81-88.
-
(2003)
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
, vol.118 B
, pp. 81-88
-
-
Barnea-Goraly, N.1
Eliez, S.2
Hedeus, M.3
Menon, V.4
White, C.D.5
Moseley, M.6
Reiss, A.L.7
-
14
-
-
0642371334
-
Investigation of white matter structure in velocardiofacial syndrome: a diffusion tensor imaging study
-
Barnea-Goraly N., Menon V., Krasnow B., Ko A., Reiss A. & Eliez S. (2003b) Investigation of white matter structure in velocardiofacial syndrome: a diffusion tensor imaging study. American Journal of Psychiatry 160, 1863-1869.
-
(2003)
American Journal of Psychiatry
, vol.160
, pp. 1863-1869
-
-
Barnea-Goraly, N.1
Menon, V.2
Krasnow, B.3
Ko, A.4
Reiss, A.5
Eliez, S.6
-
15
-
-
28844447409
-
Arithmetic ability and parietal alterations: a diffusion tensor imaging study in velocardiofacial syndrome
-
Barnea-Goraly N., Eliez S., Menon V., Bammer R. & Reiss A. L. (2005) Arithmetic ability and parietal alterations: a diffusion tensor imaging study in velocardiofacial syndrome. Brain Research. Cognitive Brain Research 25, 735-740.
-
(2005)
Brain Research. Cognitive Brain Research
, vol.25
, pp. 735-740
-
-
Barnea-Goraly, N.1
Eliez, S.2
Menon, V.3
Bammer, R.4
Reiss, A.L.5
-
16
-
-
0030162959
-
Microstructural and physiological features of tissues elucidated by quantitative-diffusion-tensor MRI
-
Basser P. J. & Pierpaoli (1996) Microstructural and physiological features of tissues elucidated by quantitative-diffusion-tensor MRI. Journal of Magnetic Resonance B 111, 209-219.
-
(1996)
Journal of Magnetic Resonance B
, vol.111
, pp. 209-219
-
-
Basser, P.J.1
Pierpaoli2
-
17
-
-
0028223951
-
A behavioral neurogenetics approach to developmental disabilities: gene-brain-behavior associations
-
Baumgardner T. L., Green K. E. & Reiss A. L. (1994) A behavioral neurogenetics approach to developmental disabilities: gene-brain-behavior associations. Current Opinion in Neurology 7, 172-178.
-
(1994)
Current Opinion in Neurology
, vol.7
, pp. 172-178
-
-
Baumgardner, T.L.1
Green, K.E.2
Reiss, A.L.3
-
18
-
-
65549102194
-
Alzheimer's disease and Down's syndrome: an in vivo MRI study
-
Beacher F., Daly E., Simmons A., Prasher V., Morris R., Robinson C., Lovestone S., Murphy K. & Murphy D. G. (2009) Alzheimer's disease and Down's syndrome: an in vivo MRI study. Psychological Medicine 39, 675-684.
-
(2009)
Psychological Medicine
, vol.39
, pp. 675-684
-
-
Beacher, F.1
Daly, E.2
Simmons, A.3
Prasher, V.4
Morris, R.5
Robinson, C.6
Lovestone, S.7
Murphy, K.8
Murphy, D.G.9
-
19
-
-
0025137740
-
Neuropsychological, neurological, and neuroanatomical profile of Williams syndrome
-
Bellugi U., Bihrle A., Jernigan T., Trauner D. & Doherty S. (1990) Neuropsychological, neurological, and neuroanatomical profile of Williams syndrome. American Journal of Medical Genetics. Supplement 6, 115-125.
-
(1990)
American Journal of Medical Genetics. Supplement
, vol.6
, pp. 115-125
-
-
Bellugi, U.1
Bihrle, A.2
Jernigan, T.3
Trauner, D.4
Doherty, S.5
-
20
-
-
0033519597
-
Towards the neural basis for hypersociability in a genetic syndrome
-
Bellugi U., Adolphs R., Cassady C. & Chiles M. (1999) Towards the neural basis for hypersociability in a genetic syndrome. Neuroreport 10, 1653-1657.
-
(1999)
Neuroreport
, vol.10
, pp. 1653-1657
-
-
Bellugi, U.1
Adolphs, R.2
Cassady, C.3
Chiles, M.4
-
21
-
-
0034043290
-
I. The neurocognitive profile of Williams syndrome: a complex pattern of strengths and weaknesses
-
Bellugi U., Lichtenberger L., Jones W., Lai Z. & St George M. (2000) I. The neurocognitive profile of Williams syndrome: a complex pattern of strengths and weaknesses. Journal of Cognitive Neuroscience 12(Suppl. 1), 7-29.
-
(2000)
Journal of Cognitive Neuroscience
, vol.12
, Issue.SUPPL. 1
, pp. 7-29
-
-
Bellugi, U.1
Lichtenberger, L.2
Jones, W.3
Lai, Z.4
St George, M.5
-
22
-
-
13844312457
-
Mathematical skills in Prader-Willi syndrome
-
Bertella L., Girelli L., Grugni G., Marchi S., Molinari E. & Semenza C. (2005) Mathematical skills in Prader-Willi syndrome. Journal of Intellectual Disability Research 49, 159-169.
-
(2005)
Journal of Intellectual Disability Research
, vol.49
, pp. 159-169
-
-
Bertella, L.1
Girelli, L.2
Grugni, G.3
Marchi, S.4
Molinari, E.5
Semenza, C.6
-
23
-
-
73049153622
-
The diagnosis and evaluation of different forms of supravalvular aortic stenosis
-
Beuren A. J., Apitz J. & Koncz J. (1962) The diagnosis and evaluation of different forms of supravalvular aortic stenosis. Zeitschrift für Kreislaufforschung 51, 829-838.
-
(1962)
Zeitschrift für Kreislaufforschung
, vol.51
, pp. 829-838
-
-
Beuren, A.J.1
Apitz, J.2
Koncz, J.3
-
24
-
-
0031469649
-
Regional cerebral blood flow abnormalities in Rett syndrome
-
Bjure J., Uvebrant P., Vestergren E. & Hagberg B. (1997) Regional cerebral blood flow abnormalities in Rett syndrome. European Child and Adolescent Psychiatry 6(Suppl. 1), 64-66.
-
(1997)
European Child and Adolescent Psychiatry
, vol.6
, Issue.SUPPL. 1
, pp. 64-66
-
-
Bjure, J.1
Uvebrant, P.2
Vestergren, E.3
Hagberg, B.4
-
25
-
-
0036846189
-
Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction
-
Brunberg J. A., Jacquemont S., Hagerman R. J., Berry-Kravis E. M., Grigsby J., Leehey M. A., Tassone F., Brown W. T., Greco C. M. & Hagerman P. J. (2002) Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR. American Journal of Neuroradiology 23, 1757-1766.
-
(2002)
AJNR. American Journal of Neuroradiology
, vol.23
, pp. 1757-1766
-
-
Brunberg, J.A.1
Jacquemont, S.2
Hagerman, R.J.3
Berry-Kravis, E.M.4
Grigsby, J.5
Leehey, M.A.6
Tassone, F.7
Brown, W.T.8
Greco, C.M.9
Hagerman, P.J.10
-
26
-
-
0028964548
-
Clinical profile of Angelman syndrome at different ages
-
Buntinx I. M., Hennekam R. C., Brouwer O. F., Stroink H., Beuten J., Mangelschots K. & Fryns J. P. (1995) Clinical profile of Angelman syndrome at different ages. American Journal of Medical Genetics 56, 176-183.
-
(1995)
American Journal of Medical Genetics
, vol.56
, pp. 176-183
-
-
Buntinx, I.M.1
Hennekam, R.C.2
Brouwer, O.F.3
Stroink, H.4
Beuten, J.5
Mangelschots, K.6
Fryns, J.P.7
-
27
-
-
0030758211
-
Brain perfusion abnormalities in Rett syndrome: a qualitative and quantitative SPEC study with 99Tc (m)-ECD
-
Burroni L., Aucone A. M., Volterrani D., Hayek Y., Bertelli P., Vella A., Zappella M. & Vattimo A. (1997) Brain perfusion abnormalities in Rett syndrome: a qualitative and quantitative SPEC study with 99Tc (m)-ECD. Nuclear Medicine Communications 18, 527-534.
-
(1997)
Nuclear Medicine Communications
, vol.18
, pp. 527-534
-
-
Burroni, L.1
Aucone, A.M.2
Volterrani, D.3
Hayek, Y.4
Bertelli, P.5
Vella, A.6
Zappella, M.7
Vattimo, A.8
-
28
-
-
0025149577
-
Endocrine function and morphological findings in patients with disorders of the hypothalamo-pituitary area: a study with magnetic resonance
-
Cacciari E., Zucchini S., Carla G., Pirazzoli P., Cicognani A., Mandini M., Busacca M. & Trevisan C. (1990) Endocrine function and morphological findings in patients with disorders of the hypothalamo-pituitary area: a study with magnetic resonance. Archives of Disease in Childhood 65, 1199-1202.
-
(1990)
Archives of Disease in Childhood
, vol.65
, pp. 1199-1202
-
-
Cacciari, E.1
Zucchini, S.2
Carla, G.3
Pirazzoli, P.4
Cicognani, A.5
Mandini, M.6
Busacca, M.7
Trevisan, C.8
-
29
-
-
33646263842
-
Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study
-
Campbell L. E., Daly E., Toal F., Stevens A., Azuma R., Catani M., Ng V., van Amelsvoort T., Chitnis X., Cutter W., Murphy D. G. & Murphy K. C. (2006) Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study. Brain 129, 1218-1228.
-
(2006)
Brain
, vol.129
, pp. 1218-1228
-
-
Campbell, L.E.1
Daly, E.2
Toal, F.3
Stevens, A.4
Azuma, R.5
Catani, M.6
Ng, V.7
van Amelsvoort, T.8
Chitnis, X.9
Cutter, W.10
Murphy, D.G.11
Murphy, K.C.12
-
30
-
-
41149136769
-
Selective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging study
-
Carter J. C., Lanham D. C., Pham D., Bibat G., Naidu S. & Kaufmann W. E. (2008) Selective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging study. AJNR. American Journal of Neuroradiology 29, 436-441.
-
(2008)
AJNR. American Journal of Neuroradiology
, vol.29
, pp. 436-441
-
-
Carter, J.C.1
Lanham, D.C.2
Pham, D.3
Bibat, G.4
Naidu, S.5
Kaufmann, W.E.6
-
31
-
-
35648978121
-
The story of Rett syndrome: from clinic to neurobiology
-
Chahrour M. & Zoghbi H. Y. (2007) The story of Rett syndrome: from clinic to neurobiology. Neuron 56, 422-437.
-
(2007)
Neuron
, vol.56
, pp. 422-437
-
-
Chahrour, M.1
Zoghbi, H.Y.2
-
32
-
-
0036112536
-
Prader-Willi syndrome, compulsive and ritualistic behaviours: the first population-based survey
-
Clarke D. J., Boer H., Whittington J., Holland A., Butler J. & Webb T. (2002) Prader-Willi syndrome, compulsive and ritualistic behaviours: the first population-based survey. British Journal of Psychiatry 180, 358-362.
-
(2002)
British Journal of Psychiatry
, vol.180
, pp. 358-362
-
-
Clarke, D.J.1
Boer, H.2
Whittington, J.3
Holland, A.4
Butler, J.5
Webb, T.6
-
33
-
-
0027474136
-
Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals
-
Clayton-Smith J. (1993) Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. American Journal of Medical Genetics 46, 12-15.
-
(1993)
American Journal of Medical Genetics
, vol.46
, pp. 12-15
-
-
Clayton-Smith, J.1
-
34
-
-
0037328861
-
Angelman syndrome: a review of the clinical and genetic aspects
-
Clayton-Smith J. & Laan L. (2003) Angelman syndrome: a review of the clinical and genetic aspects. Journal of Medical Genetics 40, 87-95.
-
(2003)
Journal of Medical Genetics
, vol.40
, pp. 87-95
-
-
Clayton-Smith, J.1
Laan, L.2
-
36
-
-
1642420437
-
Do women with fragile X syndrome have problems in switching attention: preliminary findings from ERP and fMRI
-
Cornish K., Swainson R., Cunnington R., Wilding J., Morris P. & Jackson G. (2004) Do women with fragile X syndrome have problems in switching attention: preliminary findings from ERP and fMRI. Brain and Cognition 54, 235-239.
-
(2004)
Brain and Cognition
, vol.54
, pp. 235-239
-
-
Cornish, K.1
Swainson, R.2
Cunnington, R.3
Wilding, J.4
Morris, P.5
Jackson, G.6
-
37
-
-
0036061558
-
Elevated plasma ghrelin levels in Prader Willi syndrome
-
Cummings D. E., Clement K., Purnell J. Q., Vaisse C., Foster K. E., Frayo R. S., Schwartz M. W., Basdevant A. & Weigle D. S. (2002) Elevated plasma ghrelin levels in Prader Willi syndrome. Nature Medicine 8, 643-644.
-
(2002)
Nature Medicine
, vol.8
, pp. 643-644
-
-
Cummings, D.E.1
Clement, K.2
Purnell, J.Q.3
Vaisse, C.4
Foster, K.E.5
Frayo, R.S.6
Schwartz, M.W.7
Basdevant, A.8
Weigle, D.S.9
-
38
-
-
67650116706
-
Brain function and gaze fixation during facial-emotion processing in fragile X and autism
-
Dalton K. M., Holsen L., Abbeduto L. & Davidson R. J. (2008) Brain function and gaze fixation during facial-emotion processing in fragile X and autism. Autism Research 1, 231-239.
-
(2008)
Autism Research
, vol.1
, pp. 231-239
-
-
Dalton, K.M.1
Holsen, L.2
Abbeduto, L.3
Davidson, R.J.4
-
39
-
-
70350349099
-
Angelman syndrome: current understanding and research prospects
-
Dan B. (2009) Angelman syndrome: current understanding and research prospects. Epilepsia 50, 2331-2339.
-
(2009)
Epilepsia
, vol.50
, pp. 2331-2339
-
-
Dan, B.1
-
40
-
-
1842855683
-
A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect
-
De Molfetta G. A., Felix T. M., Riegel M., Ferraz V. E. & de Pina Neto J. M. (2002) A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect. Arquivos de Neuro-Psiquiatria 60, 1011-1014.
-
(2002)
Arquivos de Neuro-Psiquiatria
, vol.60
, pp. 1011-1014
-
-
De Molfetta, G.A.1
Felix, T.M.2
Riegel, M.3
Ferraz, V.E.4
de Pina Neto, J.M.5
-
41
-
-
37849038398
-
Hippocampal volume reduction in children with chromosome 22q11.2 deletion syndrome is associated with cognitive impairment
-
DeBoer T., Wu Z., Lee A. & Simon T. (2007) Hippocampal volume reduction in children with chromosome 22q11.2 deletion syndrome is associated with cognitive impairment. Behavior and Brain Functions 3, 54.
-
(2007)
Behavior and Brain Functions
, vol.3
, pp. 54
-
-
DeBoer, T.1
Wu, Z.2
Lee, A.3
Simon, T.4
-
43
-
-
53949084203
-
Food-related neural circuitry in Prader-Willi syndrome: response to high- versus low-calorie foods
-
Dimitropoulos A. & Schultz R. T. (2008) Food-related neural circuitry in Prader-Willi syndrome: response to high- versus low-calorie foods. Journal of Autism and Developmental Disorders 38, 1642-1653.
-
(2008)
Journal of Autism and Developmental Disorders
, vol.38
, pp. 1642-1653
-
-
Dimitropoulos, A.1
Schultz, R.T.2
-
44
-
-
0035201345
-
Neurons and neuronal systems involved in the pathophysiologies of Rett syndrome
-
Dunn H. G. (2001) Neurons and neuronal systems involved in the pathophysiologies of Rett syndrome. Brain & Development 23, S99-S100.
-
(2001)
Brain & Development
, vol.23
-
-
Dunn, H.G.1
-
45
-
-
12144288558
-
Maladaptive and compulsive behavior in Prader-Willi syndrome: new insights from older adults
-
Dykens E. M. (2004) Maladaptive and compulsive behavior in Prader-Willi syndrome: new insights from older adults. American Journal of Mental Retardation 109, 142-153.
-
(2004)
American Journal of Mental Retardation
, vol.109
, pp. 142-153
-
-
Dykens, E.M.1
-
48
-
-
0035176185
-
Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study
-
Eliez S., Antonarakis S. E., Morris M. A., Dahoun S. P. & Reiss A. L. (2001a) Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study. Archives of General Psychiatry 58, 64-68.
-
(2001)
Archives of General Psychiatry
, vol.58
, pp. 64-68
-
-
Eliez, S.1
Antonarakis, S.E.2
Morris, M.A.3
Dahoun, S.P.4
Reiss, A.L.5
-
49
-
-
0035095617
-
Velocardiofacial syndrome: are structural changes in the temporal and mesial temporal regions related to schizophrenia?
-
Eliez S., Blasey C. M., Schmitt E. J., White C. D., Hu D. & Reiss A. L. (2001b) Velocardiofacial syndrome: are structural changes in the temporal and mesial temporal regions related to schizophrenia? American Journal of Psychiatry 158, 447-453.
-
(2001)
American Journal of Psychiatry
, vol.158
, pp. 447-453
-
-
Eliez, S.1
Blasey, C.M.2
Schmitt, E.J.3
White, C.D.4
Hu, D.5
Reiss, A.L.6
-
50
-
-
0035836010
-
Rett syndrome: clinical characteristics and recent genetic advances
-
Ellaway C. & Christodoulou J. (2001) Rett syndrome: clinical characteristics and recent genetic advances. Disability and Rehabilitation 23, 98-106.
-
(2001)
Disability and Rehabilitation
, vol.23
, pp. 98-106
-
-
Ellaway, C.1
Christodoulou, J.2
-
51
-
-
0027185655
-
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
-
Ewart A. K., Morris C. A., Atkinson D., Jin W., Sternes K., Spallone P., Stock A. D., Leppert M. & Keating M. T. (1993) Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature Genetics 5, 11-16.
-
(1993)
Nature Genetics
, vol.5
, pp. 11-16
-
-
Ewart, A.K.1
Morris, C.A.2
Atkinson, D.3
Jin, W.4
Sternes, K.5
Spallone, P.6
Stock, A.D.7
Leppert, M.8
Keating, M.T.9
-
52
-
-
0030848690
-
Small planum temporale volume in Down's syndrome: a volumetric MRI study
-
Frangou S., Aylward E., Warren A., Sharma T., Barta P. & Pearlson G. (1997) Small planum temporale volume in Down's syndrome: a volumetric MRI study. American Journal of Psychiatry 154, 1424-1429.
-
(1997)
American Journal of Psychiatry
, vol.154
, pp. 1424-1429
-
-
Frangou, S.1
Aylward, E.2
Warren, A.3
Sharma, T.4
Barta, P.5
Pearlson, G.6
-
53
-
-
0034756335
-
Dorsal forebrain anomaly in Williams syndrome
-
Galaburda A. M., Schmitt J. E., Atlas S. W., Eliez S., Bellugi U. & Reiss A. L. (2001) Dorsal forebrain anomaly in Williams syndrome. Archives of Neurology 58, 1865-1869.
-
(2001)
Archives of Neurology
, vol.58
, pp. 1865-1869
-
-
Galaburda, A.M.1
Schmitt, J.E.2
Atlas, S.W.3
Eliez, S.4
Bellugi, U.5
Reiss, A.L.6
-
54
-
-
33947595216
-
Morphometry and 1H-MR spectroscopy of the brain stem and cerebellum in three patients with fragile X-associated tremor/ataxia syndrome
-
Ginestroni A., Guerrini L., Della Nave R., Tessa C., Cellini E., Dotti M. T., Brunori P., De Stefano N., Piacentini S. & Mascalchi M. (2007) Morphometry and 1H-MR spectroscopy of the brain stem and cerebellum in three patients with fragile X-associated tremor/ataxia syndrome. AJNR. American Journal of Neuroradiology 28, 486-488.
-
(2007)
AJNR. American Journal of Neuroradiology
, vol.28
, pp. 486-488
-
-
Ginestroni, A.1
Guerrini, L.2
Della Nave, R.3
Tessa, C.4
Cellini, E.5
Dotti, M.T.6
Brunori, P.7
De Stefano, N.8
Piacentini, S.9
Mascalchi, M.10
-
55
-
-
0345355194
-
Tc-99m HMPAO brain perfusion imaging in young Down's syndrome patients
-
Gokcora N., Atasever T., Karabacak N. I., Vural G. & Gucuyener K. (1999) Tc-99m HMPAO brain perfusion imaging in young Down's syndrome patients. Brain and Development 21, 107-112.
-
(1999)
Brain and Development
, vol.21
, pp. 107-112
-
-
Gokcora, N.1
Atasever, T.2
Karabacak, N.I.3
Vural, G.4
Gucuyener, K.5
-
56
-
-
0028931795
-
The neuropathology of Williams syndrome. Report of a 35-year-old man with presenile beta/A4 amyloid plaques and neurofibrillary tangles
-
Golden J. A., Nielsen G. P., Pober B. R. & Hyman B. T. (1995) The neuropathology of Williams syndrome. Report of a 35-year-old man with presenile beta/A4 amyloid plaques and neurofibrillary tangles. Archives of Neurology 52, 209-212.
-
(1995)
Archives of Neurology
, vol.52
, pp. 209-212
-
-
Golden, J.A.1
Nielsen, G.P.2
Pober, B.R.3
Hyman, B.T.4
-
59
-
-
34249795781
-
Abnormal cortical activation during response inhibition in 22q.11.2 deletion syndrome
-
Gothelf D., Hoeft F., Hinard C., Hallmayer J. F., Stoecker J. V. D., Antonarakis S. E., Morris M. A. & Reiss A. L. (2007) Abnormal cortical activation during response inhibition in 22q.11.2 deletion syndrome. Human Brain Mapping 28, 533-542.
-
(2007)
Human Brain Mapping
, vol.28
, pp. 533-542
-
-
Gothelf, D.1
Hoeft, F.2
Hinard, C.3
Hallmayer, J.F.4
Stoecker, J.V.D.5
Antonarakis, S.E.6
Morris, M.A.7
Reiss, A.L.8
-
60
-
-
39049094764
-
Neuroanatomy of fragile X syndrome is associated with aberrant behavior and the fragile X mental retardation protein (FMRP)
-
Gothelf D., Furfaro J. A., Hoeft F., Eckert M. A., Hall S. S., O'Hara R., Erba H. W., Ringel J., Hayashi K. M., Patnaik S., Golianu B., Kraemer H. C., Thompson P. M., Piven J. & Reiss A. L. (2008a) Neuroanatomy of fragile X syndrome is associated with aberrant behavior and the fragile X mental retardation protein (FMRP). Annals of Neurology 63, 40-51.
-
(2008)
Annals of Neurology
, vol.63
, pp. 40-51
-
-
Gothelf, D.1
Furfaro, J.A.2
Hoeft, F.3
Eckert, M.A.4
Hall, S.S.5
O'Hara, R.6
Erba, H.W.7
Ringel, J.8
Hayashi, K.M.9
Patnaik, S.10
Golianu, B.11
Kraemer, H.C.12
Thompson, P.M.13
Piven, J.14
Reiss, A.L.15
-
61
-
-
44149125060
-
Genes, brain development and psychiatric phenotypes in velo-cardio-facial syndrome
-
Gothelf D., Schaer M. & Eliez S. (2008b) Genes, brain development and psychiatric phenotypes in velo-cardio-facial syndrome. Developmental Disabilities Research Reviews 14, 59-68.
-
(2008)
Developmental Disabilities Research Reviews
, vol.14
, pp. 59-68
-
-
Gothelf, D.1
Schaer, M.2
Eliez, S.3
-
62
-
-
0035192560
-
Magnetic resonance imaging and clinical findings examined in adulthood-studies on three adults with Rett syndrome
-
Gotoh H., Suzuki I., Maruki K., Mitomo M., Hirasawa K. & Sasaki N. (2001) Magnetic resonance imaging and clinical findings examined in adulthood-studies on three adults with Rett syndrome. Brain and Development 23(Suppl. 1), S118-S121.
-
(2001)
Brain and Development
, vol.23
, Issue.SUPPL. 1
-
-
Gotoh, H.1
Suzuki, I.2
Maruki, K.3
Mitomo, M.4
Hirasawa, K.5
Sasaki, N.6
-
63
-
-
0024757378
-
Williams syndrome
-
Greenberg F. (1989) Williams syndrome. Pediatrics 84, 922-923.
-
(1989)
Pediatrics
, vol.84
, pp. 922-923
-
-
Greenberg, F.1
-
64
-
-
0037398374
-
Neuroimaging in developmental disorders
-
Greicius M. D. (2003) Neuroimaging in developmental disorders. Current Opinion in Neurology 16, 143-146.
-
(2003)
Current Opinion in Neurology
, vol.16
, pp. 143-146
-
-
Greicius, M.D.1
-
65
-
-
0035014904
-
Cognition, attention, and behavior in Prader-Willi syndrome
-
Gross-Tsur V., Landau Y. E., Benarroch F., Wertman-Elad R. & Shalev R. S. (2001) Cognition, attention, and behavior in Prader-Willi syndrome. Journal of Child Neurology 16, 288-290.
-
(2001)
Journal of Child Neurology
, vol.16
, pp. 288-290
-
-
Gross-Tsur, V.1
Landau, Y.E.2
Benarroch, F.3
Wertman-Elad, R.4
Shalev, R.S.5
-
66
-
-
0032012318
-
Fragile X syndrome. Clinical, electroencephalographic and neuroimaging characteristics
-
Guerreiro M. M., Camargo E. E., Kato M., Marques-de-Faria A. P., Ciasca S. M., Guerreiro C. A., Netto J. R. & Moura-Ribeiro M. V. (1998) Fragile X syndrome. Clinical, electroencephalographic and neuroimaging characteristics. Arquivos de Neuro-Psiquiatria 56, 18-23.
-
(1998)
Arquivos de Neuro-Psiquiatria
, vol.56
, pp. 18-23
-
-
Guerreiro, M.M.1
Camargo, E.E.2
Kato, M.3
Marques-de-Faria, A.P.4
Ciasca, S.M.5
Guerreiro, C.A.6
Netto, J.R.7
Moura-Ribeiro, M.V.8
-
67
-
-
67651159387
-
Early white-matter abnormalities of the ventral frontostriatal pathway in fragile X syndrome
-
Haas B. W., Barnea-Goraly N., Lightbody A. A., Patnaik S. S., Hoeft F., Hazlett H., Piven J. & Reiss A. L. (2009) Early white-matter abnormalities of the ventral frontostriatal pathway in fragile X syndrome. Developmental Medicine and Child Neurology 51, 593-599.
-
(2009)
Developmental Medicine and Child Neurology
, vol.51
, pp. 593-599
-
-
Haas, B.W.1
Barnea-Goraly, N.2
Lightbody, A.A.3
Patnaik, S.S.4
Hoeft, F.5
Hazlett, H.6
Piven, J.7
Reiss, A.L.8
-
68
-
-
57749194386
-
Aberrant neural function during emotion attribution in female subjects with fragile X syndrome
-
Hagan C. C., Hoeft F., Mackey A., Mobbs D. & Reiss A. L. (2008) Aberrant neural function during emotion attribution in female subjects with fragile X syndrome. Journal of the American Academy of Child and Adolescent Psychiatry 47, 1443-1454.
-
(2008)
Journal of the American Academy of Child and Adolescent Psychiatry
, vol.47
, pp. 1443-1454
-
-
Hagan, C.C.1
Hoeft, F.2
Mackey, A.3
Mobbs, D.4
Reiss, A.L.5
-
69
-
-
0022460194
-
Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence
-
Hagberg B. & Witt-Engerstrom I. (1986) Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence. American Journal of Medical Genetics. Supplement 1, 47-59.
-
(1986)
American Journal of Medical Genetics. Supplement
, vol.1
, pp. 47-59
-
-
Hagberg, B.1
Witt-Engerstrom, I.2
-
70
-
-
0020507697
-
A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases
-
Hagberg B., Aicardi J., Dias K. & Ramos O. (1983) A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Annals of Neurology 14, 471-479.
-
(1983)
Annals of Neurology
, vol.14
, pp. 471-479
-
-
Hagberg, B.1
Aicardi, J.2
Dias, K.3
Ramos, O.4
-
71
-
-
50049086691
-
The fragile X prevalence paradox
-
Hagerman P. J. (2008) The fragile X prevalence paradox. Journal of Medical Genetics 45, 498-499.
-
(2008)
Journal of Medical Genetics
, vol.45
, pp. 498-499
-
-
Hagerman, P.J.1
-
72
-
-
64049097712
-
Abnormal myelination in Angelman syndrome
-
Harting I., Seitz A., Rating D., Sartor K., Zschocke J., Janssen B., Ebinger F. & Wolf N. I. (2009) Abnormal myelination in Angelman syndrome. European Journal of Paediatric Neurology 13, 271-276.
-
(2009)
European Journal of Paediatric Neurology
, vol.13
, pp. 271-276
-
-
Harting, I.1
Seitz, A.2
Rating, D.3
Sartor, K.4
Zschocke, J.5
Janssen, B.6
Ebinger, F.7
Wolf, N.I.8
-
73
-
-
32544442895
-
Neural representations of hunger and satiety in Prader-Willi syndrome
-
Hinton E. C., Holland A. J., Gellatly M. S., Soni S., Patterson M., Ghatei M. A. & Owen A. M. (2006) Neural representations of hunger and satiety in Prader-Willi syndrome. International Journal of Obesity 30, 313-321.
-
(2006)
International Journal of Obesity
, vol.30
, pp. 313-321
-
-
Hinton, E.C.1
Holland, A.J.2
Gellatly, M.S.3
Soni, S.4
Patterson, M.5
Ghatei, M.A.6
Owen, A.M.7
-
74
-
-
35948971820
-
More is not always better: increased fractional anisotropy of superior longitudinal fasciculus associated with poor visuospatial abilities in Williams syndrome
-
Hoeft F., Barnea-Goraly N., Haas B. W., Golarai G., Ng D., Mills D., Korenberg J., Bellugi U., Galaburda A. & Reiss A. L. (2007) More is not always better: increased fractional anisotropy of superior longitudinal fasciculus associated with poor visuospatial abilities in Williams syndrome. Journal of Neuroscience 27, 11960-11965.
-
(2007)
Journal of Neuroscience
, vol.27
, pp. 11960-11965
-
-
Hoeft, F.1
Barnea-Goraly, N.2
Haas, B.W.3
Golarai, G.4
Ng, D.5
Mills, D.6
Korenberg, J.7
Bellugi, U.8
Galaburda, A.9
Reiss, A.L.10
-
75
-
-
50949100442
-
Morphometric spatial patterns differentiating boys with fragile X syndrome, typically developing boys, and developmentally delayed boys aged 1 to 3years
-
Hoeft F., Lightbody A. A., Hazlett H. C., Patnaik S., Piven J. & Reiss A. L. (2008) Morphometric spatial patterns differentiating boys with fragile X syndrome, typically developing boys, and developmentally delayed boys aged 1 to 3years. Archives of General Psychiatry 65, 1087-1097.
-
(2008)
Archives of General Psychiatry
, vol.65
, pp. 1087-1097
-
-
Hoeft, F.1
Lightbody, A.A.2
Hazlett, H.C.3
Patnaik, S.4
Piven, J.5
Reiss, A.L.6
-
76
-
-
0037208057
-
Behavioural phenotypes associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi syndrome
-
Holland A. J., Whittington J. E., Butler J., Webb T., Boer H. & Clarke D. (2003) Behavioural phenotypes associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi syndrome. Psychological Medicine 33, 141-153.
-
(2003)
Psychological Medicine
, vol.33
, pp. 141-153
-
-
Holland, A.J.1
Whittington, J.E.2
Butler, J.3
Webb, T.4
Boer, H.5
Clarke, D.6
-
77
-
-
33846887849
-
Neural mechanisms underlying hyperphagia in Prader-Willi syndrome
-
Holsen L. M., Zarcone J. R., Brooks W. M., Butler M. G., Thompson T. I., Ahluwalia J. S., Nollen N. L. & Savage C. R. (2006) Neural mechanisms underlying hyperphagia in Prader-Willi syndrome. Obesity (Silver Spring) 14, 1028-1037.
-
(2006)
Obesity (Silver Spring)
, vol.14
, pp. 1028-1037
-
-
Holsen, L.M.1
Zarcone, J.R.2
Brooks, W.M.3
Butler, M.G.4
Thompson, T.I.5
Ahluwalia, J.S.6
Nollen, N.L.7
Savage, C.R.8
-
79
-
-
41849115198
-
Pituitary height and neuroradiological alterations in patients with Prader-Labhart-Willi syndrome
-
Iughetti L., Bosio L., Corrias A., Gargantini L., Ragusa L., Livieri C., Predieri B., Bruzzi P., Caselli G. & Grugni G. (2008) Pituitary height and neuroradiological alterations in patients with Prader-Labhart-Willi syndrome. European Journal of Pediatrics 167, 701-702.
-
(2008)
European Journal of Pediatrics
, vol.167
, pp. 701-702
-
-
Iughetti, L.1
Bosio, L.2
Corrias, A.3
Gargantini, L.4
Ragusa, L.5
Livieri, C.6
Predieri, B.7
Bruzzi, P.8
Caselli, G.9
Grugni, G.10
-
80
-
-
17644423458
-
Foreshortened dorsal extension of the central sulcus in Williams syndrome
-
Jackowski A. P. & Schultz R. T. (2005) Foreshortened dorsal extension of the central sulcus in Williams syndrome. Cortex 41, 282-290.
-
(2005)
Cortex
, vol.41
, pp. 282-290
-
-
Jackowski, A.P.1
Schultz, R.T.2
-
81
-
-
33947699891
-
A neuropsychological assessment of frontal cognitive functions in Prader-Willi syndrome
-
Jauregi J., Arias C., Vegas O., Alen F., Martinez S., Copet P. & Thuilleaux D. (2007) A neuropsychological assessment of frontal cognitive functions in Prader-Willi syndrome. Journal of Intellectual Disability Research 51, 350-365.
-
(2007)
Journal of Intellectual Disability Research
, vol.51
, pp. 350-365
-
-
Jauregi, J.1
Arias, C.2
Vegas, O.3
Alen, F.4
Martinez, S.5
Copet, P.6
Thuilleaux, D.7
-
82
-
-
0025260871
-
Anomalous brain morphology on magnetic resonance images in Williams syndrome and Down syndrome
-
Jernigan T. L. & Bellugi U. (1990) Anomalous brain morphology on magnetic resonance images in Williams syndrome and Down syndrome. Archives of Neurology 47, 529-533.
-
(1990)
Archives of Neurology
, vol.47
, pp. 529-533
-
-
Jernigan, T.L.1
Bellugi, U.2
-
83
-
-
0027475963
-
Cerebral morphologic distinctions between Williams and Down syndromes
-
Jernigan T. L., Bellugi U., Sowell E., Doherty S. & Hesselink J. R. (1993) Cerebral morphologic distinctions between Williams and Down syndromes. Archives of Neurology 50, 186-191.
-
(1993)
Archives of Neurology
, vol.50
, pp. 186-191
-
-
Jernigan, T.L.1
Bellugi, U.2
Sowell, E.3
Doherty, S.4
Hesselink, J.R.5
-
84
-
-
34547428532
-
The neural correlates of non-spatial working memory in velocardiofacial syndrome (22q11.2 deletion syndrome)
-
Kates W. R., Krauss B. R., Abdulsabur N., Colgan D., Antshel K. M., Higgins A. M. & Shprintzen R. J. (2007) The neural correlates of non-spatial working memory in velocardiofacial syndrome (22q11.2 deletion syndrome). Neuropsychologia 45, 2863-2873.
-
(2007)
Neuropsychologia
, vol.45
, pp. 2863-2873
-
-
Kates, W.R.1
Krauss, B.R.2
Abdulsabur, N.3
Colgan, D.4
Antshel, K.M.5
Higgins, A.M.6
Shprintzen, R.J.7
-
85
-
-
0027459424
-
Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11
-
Kelly D., Goldberg R., Wilson D., Lindsay E., Carey A., Goodship J., Burn J., Cross I., Shprintzen R. J. & Scambler P. J. (1993) Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11. American Journal of Medical Genetics 45, 308-312.
-
(1993)
American Journal of Medical Genetics
, vol.45
, pp. 308-312
-
-
Kelly, D.1
Goldberg, R.2
Wilson, D.3
Lindsay, E.4
Carey, A.5
Goodship, J.6
Burn, J.7
Cross, I.8
Shprintzen, R.J.9
Scambler, P.J.10
-
86
-
-
0028306111
-
Magnetic resonance imaging analysis of age-related changes in the brains of individuals with Down's syndrome
-
Kesslak J. P., Nagata S. F., Lott I. & Nalcioglu O. (1994) Magnetic resonance imaging analysis of age-related changes in the brains of individuals with Down's syndrome. Neurology 44, 1039-1045.
-
(1994)
Neurology
, vol.44
, pp. 1039-1045
-
-
Kesslak, J.P.1
Nagata, S.F.2
Lott, I.3
Nalcioglu, O.4
-
87
-
-
0036216036
-
Magnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome
-
Khong P. L., Lam C. W., Ooi C. G., Ko C. H. & Wong V. C. (2002) Magnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome. Pediatric Neurology, 26, 205-209.
-
(2002)
Pediatric Neurology
, vol.26
, pp. 205-209
-
-
Khong, P.L.1
Lam, C.W.2
Ooi, C.G.3
Ko, C.H.4
Wong, V.C.5
-
88
-
-
33747127197
-
Regional cerebral glucose metabolic abnormality in Prader-Willi syndrome: A 18F-FDG PET study under sedation
-
Kim S. E., Jin D. K., Cho S. S., Kim J. H., Hong S. D., Paik K. H., Oh Y. J., Kim A. H., Kwon E. K. & Choe Y. H. (2006) Regional cerebral glucose metabolic abnormality in Prader-Willi syndrome: A 18F-FDG PET study under sedation. Journal of Nuclear Medicine 47, 1088-1092.
-
(2006)
Journal of Nuclear Medicine
, vol.47
, pp. 1088-1092
-
-
Kim, S.E.1
Jin, D.K.2
Cho, S.S.3
Kim, J.H.4
Hong, S.D.5
Paik, K.H.6
Oh, Y.J.7
Kim, A.H.8
Kwon, E.K.9
Choe, Y.H.10
-
89
-
-
23944487203
-
Genetic contributions to human gyrification: sulcal morphometry in Williams syndrome
-
Kippenhan J. S., Olsen R. K., Mervis C. B., Morris C. A., Kohn P., Meyer-Lindenberg A. & Berman K. F. (2005) Genetic contributions to human gyrification: sulcal morphometry in Williams syndrome. Journal of Neuroscience 25, 7840-7846.
-
(2005)
Journal of Neuroscience
, vol.25
, pp. 7840-7846
-
-
Kippenhan, J.S.1
Olsen, R.K.2
Mervis, C.B.3
Morris, C.A.4
Kohn, P.5
Meyer-Lindenberg, A.6
Berman, K.F.7
-
91
-
-
33845232989
-
Neuroanatomical, molecular genetic, and behavioral correlates of fragile X syndrome
-
Koukoui S. D. & Chaudhuri A. (2007) Neuroanatomical, molecular genetic, and behavioral correlates of fragile X syndrome. Brain Research Reviews 53, 27-38.
-
(2007)
Brain Research Reviews
, vol.53
, pp. 27-38
-
-
Koukoui, S.D.1
Chaudhuri, A.2
-
92
-
-
0036368653
-
Relation of medial temporal lobe volumes to age and memory function in nondemented adults with Down's syndrome: implications for the prodromal phase of Alzheimer's disease
-
Krasuski J. S., Alexander G. E., Horwitz B., Rapoport S. I. & Schapiro M. B. (2002) Relation of medial temporal lobe volumes to age and memory function in nondemented adults with Down's syndrome: implications for the prodromal phase of Alzheimer's disease. American Journal of Psychiatry 159, 74-81.
-
(2002)
American Journal of Psychiatry
, vol.159
, pp. 74-81
-
-
Krasuski, J.S.1
Alexander, G.E.2
Horwitz, B.3
Rapoport, S.I.4
Schapiro, M.B.5
-
93
-
-
12744253284
-
Angelman syndrome: is there a characteristic EEG?
-
Laan L. A. & Vein A. A. (2005) Angelman syndrome: is there a characteristic EEG? Brain and Development 27, 80-87.
-
(2005)
Brain and Development
, vol.27
, pp. 80-87
-
-
Laan, L.A.1
Vein, A.A.2
-
94
-
-
0031050904
-
Evolution of epilepsy and EEG findings in Angelman syndrome
-
Laan L. A., Renier W. O., Arts W. F., Buntinx I. M., vd Burgt I. J., Stroink H., Beuten J., Zwinderman K. H., van Dijk J. G. & Brouwer O. F. (1997) Evolution of epilepsy and EEG findings in Angelman syndrome. Epilepsia 38, 195-199.
-
(1997)
Epilepsia
, vol.38
, pp. 195-199
-
-
Laan, L.A.1
Renier, W.O.2
Arts, W.F.3
Buntinx, I.M.4
vd Burgt, I.J.5
Stroink, H.6
Beuten, J.7
Zwinderman, K.H.8
van Dijk, J.G.9
Brouwer, O.F.10
-
96
-
-
17144372990
-
Memory and learning in children with 22q11.2 deletion syndrome: evidence for ventral and dorsal stream disruption?
-
Lajiness-O'Neill R. R., Beaulieu I., Titus J. B., Asamoah A., Bigler E. D., Bawle E. V. & Pollack R. (2005) Memory and learning in children with 22q11.2 deletion syndrome: evidence for ventral and dorsal stream disruption? Child Neuropsychology 11, 55-71.
-
(2005)
Child Neuropsychology
, vol.11
, pp. 55-71
-
-
Lajiness-O'Neill, R.R.1
Beaulieu, I.2
Titus, J.B.3
Asamoah, A.4
Bigler, E.D.5
Bawle, E.V.6
Pollack, R.7
-
97
-
-
33745172090
-
Object recognition with severe spatial deficits in Williams syndrome: sparing and breakdown
-
Landau B., Hoffman J. E. & Kurz N. (2006) Object recognition with severe spatial deficits in Williams syndrome: sparing and breakdown. Cognition 100, 483-510.
-
(2006)
Cognition
, vol.100
, pp. 483-510
-
-
Landau, B.1
Hoffman, J.E.2
Kurz, N.3
-
98
-
-
0031057737
-
Brain perfusion SPECT and EEG findings in Rett syndrome
-
Lappalainen R., Liewendahl K., Sainio K., Nikkinen P. & Riikonen R. S. (1997) Brain perfusion SPECT and EEG findings in Rett syndrome. Acta Neurologica Scandinavica 95, 44-50.
-
(1997)
Acta Neurologica Scandinavica
, vol.95
, pp. 44-50
-
-
Lappalainen, R.1
Liewendahl, K.2
Sainio, K.3
Nikkinen, P.4
Riikonen, R.S.5
-
99
-
-
0027533586
-
Angelman and Prader-Willi syndrome: a magnetic resonance imaging study of differences in cerebral structure
-
Leonard C. M., Williams C. A., Nicholls R. D., Agee O. F., Voeller K. K., Honeyman J. C. & Staab E. V. (1993) Angelman and Prader-Willi syndrome: a magnetic resonance imaging study of differences in cerebral structure. American Journal of Medical Genetics 46, 26-33.
-
(1993)
American Journal of Medical Genetics
, vol.46
, pp. 26-33
-
-
Leonard, C.M.1
Williams, C.A.2
Nicholls, R.D.3
Agee, O.F.4
Voeller, K.K.5
Honeyman, J.C.6
Staab, E.V.7
-
100
-
-
73849141236
-
Gene, brain, and behavior relationships in fragile X syndrome: evidence from neuroimaging studies
-
Lightbody A. A. & Reiss A. L. (2009) Gene, brain, and behavior relationships in fragile X syndrome: evidence from neuroimaging studies. Developmental Disabilities Research Reviews 15, 343-352.
-
(2009)
Developmental Disabilities Research Reviews
, vol.15
, pp. 343-352
-
-
Lightbody, A.A.1
Reiss, A.L.2
-
101
-
-
0029835883
-
Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13 - implications for cytogenetics and molecular biology
-
Lipson A., Fagan K., Colley A., Colley P., Sholler G., Issacs D. & Oates R. K. (1996) Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13 - implications for cytogenetics and molecular biology. American Journal of Medical Genetics 65, 304-308.
-
(1996)
American Journal of Medical Genetics
, vol.65
, pp. 304-308
-
-
Lipson, A.1
Fagan, K.2
Colley, A.3
Colley, P.4
Sholler, G.5
Issacs, D.6
Oates, R.K.7
-
102
-
-
77958467208
-
Abnormal fMRI activation pattern during story listening in individuals with Down syndrome
-
Losin E. A., Rivera S. M., O'Hare E. D., Sowell E. R. & Pinter J. D. (2009) Abnormal fMRI activation pattern during story listening in individuals with Down syndrome. American Journal of Intellectual and Developmental Disabilities 114, 369-380.
-
(2009)
American Journal of Intellectual and Developmental Disabilities
, vol.114
, pp. 369-380
-
-
Losin, E.A.1
Rivera, S.M.2
O'Hare, E.D.3
Sowell, E.R.4
Pinter, J.D.5
-
104
-
-
0036406902
-
The brain in Down syndrome (TRISOMY 21)
-
Lubec G. & Engidawork E. (2002) The brain in Down syndrome (TRISOMY 21). Journal of Neurology 249, 1347-1356.
-
(2002)
Journal of Neurology
, vol.249
, pp. 1347-1356
-
-
Lubec, G.1
Engidawork, E.2
-
105
-
-
35448967833
-
Genetic contributions to white matter architecture revealed by diffusion tensor imaging in Williams syndrome
-
Marenco S., Siuta M. A., Kippenhan J. S., Grodofsky S., Chang W. L., Kohn P., Mervis C. B., Morris C. A., Weinberger D. R., Meyer-Lindenberg A., Pierpaoli C. & Berman K. F. (2007) Genetic contributions to white matter architecture revealed by diffusion tensor imaging in Williams syndrome. Proceedings of the National Academy of Sciences USA 104, 15117-15122.
-
(2007)
Proceedings of the National Academy of Sciences USA
, vol.104
, pp. 15117-15122
-
-
Marenco, S.1
Siuta, M.A.2
Kippenhan, J.S.3
Grodofsky, S.4
Chang, W.L.5
Kohn, P.6
Mervis, C.B.7
Morris, C.A.8
Weinberger, D.R.9
Meyer-Lindenberg, A.10
Pierpaoli, C.11
Berman, K.F.12
-
107
-
-
0027092556
-
Epilepsy in Angelman syndrome associated with chromosome 15q deletion
-
Matsumoto A., Kumagai T., Miura K., Miyazaki S., Hayakawa C. & Yamanaka T. (1992) Epilepsy in Angelman syndrome associated with chromosome 15q deletion. Epilepsia 33, 1083-1090.
-
(1992)
Epilepsia
, vol.33
, pp. 1083-1090
-
-
Matsumoto, A.1
Kumagai, T.2
Miura, K.3
Miyazaki, S.4
Hayakawa, C.5
Yamanaka, T.6
-
108
-
-
51749115116
-
Specific entities affecting the craniocervical region: osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management of basilar impression
-
Menezes A. H. (2008) Specific entities affecting the craniocervical region: osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management of basilar impression. Childs Nervous System 24, 1169-1172.
-
(2008)
Childs Nervous System
, vol.24
, pp. 1169-1172
-
-
Menezes, A.H.1
-
109
-
-
0034537430
-
The Williams syndrome cognitive profile
-
Mervis C. B., Robinson B. F., Bertrand J., Morris C. A., Klein-Tasman B. P. & Armstrong S. C. (2000) The Williams syndrome cognitive profile. Brain and Cognition 44, 604-628.
-
(2000)
Brain and Cognition
, vol.44
, pp. 604-628
-
-
Mervis, C.B.1
Robinson, B.F.2
Bertrand, J.3
Morris, C.A.4
Klein-Tasman, B.P.5
Armstrong, S.C.6
-
110
-
-
4444331998
-
Neural basis of genetically determined visuospatial construction deficit in Williams syndrome
-
Meyer-Lindenberg A., Kohn P., Mervis C. B., Kippenhan J. S., Olsen R. K., Morris C. A. & Berman K. F. (2004) Neural basis of genetically determined visuospatial construction deficit in Williams syndrome. Neuron 43, 623-631.
-
(2004)
Neuron
, vol.43
, pp. 623-631
-
-
Meyer-Lindenberg, A.1
Kohn, P.2
Mervis, C.B.3
Kippenhan, J.S.4
Olsen, R.K.5
Morris, C.A.6
Berman, K.F.7
-
111
-
-
23044456645
-
Neural correlates of genetically abnormal social cognition in Williams Syndrome
-
Meyer-Lindenberg A., Hariri A. R., Munoz K. E., Mervis C. B., Mattay V. S., Morris C. A. & Berman K. F. (2005) Neural correlates of genetically abnormal social cognition in Williams Syndrome. Nature Neuroscience 8, 991-993.
-
(2005)
Nature Neuroscience
, vol.8
, pp. 991-993
-
-
Meyer-Lindenberg, A.1
Hariri, A.R.2
Munoz, K.E.3
Mervis, C.B.4
Mattay, V.S.5
Morris, C.A.6
Berman, K.F.7
-
112
-
-
33745698871
-
Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour
-
Meyer-Lindenberg A., Mervis C. B. & Berman K. F. (2006) Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour. Nature Reviews. Neuroscience 7, 380-393.
-
(2006)
Nature Reviews. Neuroscience
, vol.7
, pp. 380-393
-
-
Meyer-Lindenberg, A.1
Mervis, C.B.2
Berman, K.F.3
-
113
-
-
0030034236
-
MR of the pituitary in patients with Prader-Willi syndrome: size determination and imaging findings
-
Miller L., Angulo M., Price D. & Taneja S. (1996) MR of the pituitary in patients with Prader-Willi syndrome: size determination and imaging findings. Pediatric Radiology 26, 43-47.
-
(1996)
Pediatric Radiology
, vol.26
, pp. 43-47
-
-
Miller, L.1
Angulo, M.2
Price, D.3
Taneja, S.4
-
114
-
-
33746611571
-
Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity
-
Miller J., Kranzler J., Liu Y., Schmalfuss I., Theriaque D. W., Shuster J. J., Hatfield A., Mueller O. T., Goldstone A. P., Sahoo T., Beaudet A. L. & Driscoll D. J. (2006a) Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity. Journal of Pediatrics 149, 192-198.
-
(2006)
Journal of Pediatrics
, vol.149
, pp. 192-198
-
-
Miller, J.1
Kranzler, J.2
Liu, Y.3
Schmalfuss, I.4
Theriaque, D.W.5
Shuster, J.J.6
Hatfield, A.7
Mueller, O.T.8
Goldstone, A.P.9
Sahoo, T.10
Beaudet, A.L.11
Driscoll, D.J.12
-
115
-
-
32544436250
-
Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome
-
Miller J., Silverstein J., Shuster J., Driscoll D. J. & Wagner M. (2006b) Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome. Journal of Clinical Endocrinology and Metabolism 91, 413-417.
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, vol.91
, pp. 413-417
-
-
Miller, J.1
Silverstein, J.2
Shuster, J.3
Driscoll, D.J.4
Wagner, M.5
-
116
-
-
33847346796
-
Intracranial abnormalities detected by three-dimensional magnetic resonance imaging in Prader-Willi syndrome
-
Miller J. L., Couch J. A., Schmalfuss I., He G., Liu Y. & Driscoll D. J. (2007a) Intracranial abnormalities detected by three-dimensional magnetic resonance imaging in Prader-Willi syndrome. American Journal of Medical Genetics. Part A 143, 476-483.
-
(2007)
American Journal of Medical Genetics. Part A
, vol.143
, pp. 476-483
-
-
Miller, J.L.1
Couch, J.A.2
Schmalfuss, I.3
He, G.4
Liu, Y.5
Driscoll, D.J.6
-
117
-
-
34249664373
-
Enhanced activation of reward mediating prefrontal regions in response to food stimuli in Prader-Willi syndrome
-
Miller J. L., James G. A., Goldstone A. P., Couch J. A., He G., Driscoll D. J. & Liu Y. (2007b) Enhanced activation of reward mediating prefrontal regions in response to food stimuli in Prader-Willi syndrome. Journal of Neurology, Neurosurgery and Psychiatry 78, 615-619.
-
(2007)
Journal of Neurology, Neurosurgery and Psychiatry
, vol.78
, pp. 615-619
-
-
Miller, J.L.1
James, G.A.2
Goldstone, A.P.3
Couch, J.A.4
He, G.5
Driscoll, D.J.6
Liu, Y.7
-
118
-
-
43049125542
-
Pituitary abnormalities in Prader-Willi syndrome and early onset morbid obesity
-
Miller J. L., Goldstone A. P., Couch J. A., Shuster J., He G., Driscoll D. J., Liu Y. & Schmalfuss I. M. (2008) Pituitary abnormalities in Prader-Willi syndrome and early onset morbid obesity. American Journal of Medical Genetics. Part A 146A, 570-577.
-
(2008)
American Journal of Medical Genetics. Part A
, vol.146 A
, pp. 570-577
-
-
Miller, J.L.1
Goldstone, A.P.2
Couch, J.A.3
Shuster, J.4
He, G.5
Driscoll, D.J.6
Liu, Y.7
Schmalfuss, I.M.8
-
119
-
-
2542641023
-
Anomalous brain activation during face and gaze processing in Williams syndrome
-
Mobbs D., Garrett A. S., Menon V., Rose F. E., Bellugi U. & Reiss A. L. (2004) Anomalous brain activation during face and gaze processing in Williams syndrome. Neurology 62, 2070-2076.
-
(2004)
Neurology
, vol.62
, pp. 2070-2076
-
-
Mobbs, D.1
Garrett, A.S.2
Menon, V.3
Rose, F.E.4
Bellugi, U.5
Reiss, A.L.6
-
120
-
-
34447248985
-
Frontostriatal dysfunction during response inhibition in Williams syndrome
-
Mobbs D., Eckert M. A., Mills D., Korenberg J., Bellugi U., Galaburda A. M. & Reiss A. L. (2007) Frontostriatal dysfunction during response inhibition in Williams syndrome. Biological Psychiatry 62, 256-261.
-
(2007)
Biological Psychiatry
, vol.62
, pp. 256-261
-
-
Mobbs, D.1
Eckert, M.A.2
Mills, D.3
Korenberg, J.4
Bellugi, U.5
Galaburda, A.M.6
Reiss, A.L.7
-
121
-
-
40649127477
-
Genetic evaluation of intellectual disabilities
-
Moeschler J. B. (2008) Genetic evaluation of intellectual disabilities. Seminars in Pediatric Neurology 15, 2-9.
-
(2008)
Seminars in Pediatric Neurology
, vol.15
, pp. 2-9
-
-
Moeschler, J.B.1
-
123
-
-
0035196391
-
Neuroimaging studies in Rett syndrome
-
Naidu S., Kaufmann W. E., Abrams M. T., Pearlson G. D., Lanham D. C., Fredericksen K. A., Barker P. B., Horska A., Golay X., Mori S., Wong D. F., Yablonski M., Moser H. W. & Johnstion M. V. (2001) Neuroimaging studies in Rett syndrome. Brain Development 23, S62-71.
-
(2001)
Brain Development
, vol.23
-
-
Naidu, S.1
Kaufmann, W.E.2
Abrams, M.T.3
Pearlson, G.D.4
Lanham, D.C.5
Fredericksen, K.A.6
Barker, P.B.7
Horska, A.8
Golay, X.9
Mori, S.10
Wong, D.F.11
Yablonski, M.12
Moser, H.W.13
Johnstion, M.V.14
-
124
-
-
0025145446
-
Immature pattern of brain activity in Rett syndrome
-
Nielsen J. B., Friberg L., Lou H., Lassen N. A. & Sam I. L. (1990) Immature pattern of brain activity in Rett syndrome. Archives of Neurology 47, 982-986.
-
(1990)
Archives of Neurology
, vol.47
, pp. 982-986
-
-
Nielsen, J.B.1
Friberg, L.2
Lou, H.3
Lassen, N.A.4
Sam, I.L.5
-
125
-
-
12744254709
-
Relationship between severity of epilepsy and developmental outcome in Angelman syndrome
-
Ohtsuka Y., Kobayashi K., Yoshinaga H., Ogino T., Ohmori I., Ogawa K. & Oka E. (2005) Relationship between severity of epilepsy and developmental outcome in Angelman syndrome. Brain and Development 27, 95-100.
-
(2005)
Brain and Development
, vol.27
, pp. 95-100
-
-
Ohtsuka, Y.1
Kobayashi, K.2
Yoshinaga, H.3
Ogino, T.4
Ohmori, I.5
Ogawa, K.6
Oka, E.7
-
126
-
-
34548558763
-
Angelman syndrome revisited
-
Paprocka J., Jamroz E., Szwed-Bialozyt B., Jezela-Stanek A., Kopyta I. & Marszal E. (2007) Angelman syndrome revisited. Neurologist 13, 305-312.
-
(2007)
Neurologist
, vol.13
, pp. 305-312
-
-
Paprocka, J.1
Jamroz, E.2
Szwed-Bialozyt, B.3
Jezela-Stanek, A.4
Kopyta, I.5
Marszal, E.6
-
128
-
-
0037007981
-
Face and place processing in Williams syndrome: evidence for a dorsal-ventral dissociation
-
Paul B. M., Stiles J., Passarotti A., Bavar N. & Bellugi U. (2002) Face and place processing in Williams syndrome: evidence for a dorsal-ventral dissociation. Neuroreport 13, 1115-1119.
-
(2002)
Neuroreport
, vol.13
, pp. 1115-1119
-
-
Paul, B.M.1
Stiles, J.2
Passarotti, A.3
Bavar, N.4
Bellugi, U.5
-
129
-
-
0031966733
-
MRI brain changes in subjects with Down syndrome with and without dementia
-
Pearlson G. D., Breiter S. N., Aylward E. H., Warren A. C., Grygorcewicz M., Frangou S., Barta P. E. & Pulsifer M. B. (1998) MRI brain changes in subjects with Down syndrome with and without dementia. Developmental Medicine and Child Neurology 40, 326-334.
-
(1998)
Developmental Medicine and Child Neurology
, vol.40
, pp. 326-334
-
-
Pearlson, G.D.1
Breiter, S.N.2
Aylward, E.H.3
Warren, A.C.4
Grygorcewicz, M.5
Frangou, S.6
Barta, P.E.7
Pulsifer, M.B.8
-
131
-
-
0035836647
-
Amygdala and hippocampal volumes in children with Down syndrome: a high-resolution MRI study
-
Pinter J. D., Brown W. E., Eliez S., Schmitt J. E., Capone G. T. & Reiss A. L. (2001a) Amygdala and hippocampal volumes in children with Down syndrome: a high-resolution MRI study. Neurology 56, 972-974.
-
(2001)
Neurology
, vol.56
, pp. 972-974
-
-
Pinter, J.D.1
Brown, W.E.2
Eliez, S.3
Schmitt, J.E.4
Capone, G.T.5
Reiss, A.L.6
-
132
-
-
0034809935
-
Neuroanatomy of Down's syndrome: a high-resolution MRI study
-
Pinter J. D., Eliez S., Schmitt J. E., Capone G. T. & Reiss A. L. (2001b) Neuroanatomy of Down's syndrome: a high-resolution MRI study. American Journal of Psychiatry 158, 1659-1665.
-
(2001)
American Journal of Psychiatry
, vol.158
, pp. 1659-1665
-
-
Pinter, J.D.1
Eliez, S.2
Schmitt, J.E.3
Capone, G.T.4
Reiss, A.L.5
-
133
-
-
64549102099
-
Assessment and care of the newborn with Down syndrome
-
Ranweiler R. (2009) Assessment and care of the newborn with Down syndrome. Advances in Neonatal Care 9, 17-24.
-
(2009)
Advances in Neonatal Care
, vol.9
, pp. 17-24
-
-
Ranweiler, R.1
-
134
-
-
0028878675
-
Selective neuroanatomic abnormalities in Down's syndrome and their cognitive correlates: evidence from MRI morphometry
-
Raz N., Torres I. J., Briggs S. D., Spencer W. D., Thornton A. E., Loken W. J., Gunning F. M., McQuain J. D., Driesen N. R. & Acker J. D. (1995) Selective neuroanatomic abnormalities in Down's syndrome and their cognitive correlates: evidence from MRI morphometry. Neurology 45, 356-366.
-
(1995)
Neurology
, vol.45
, pp. 356-366
-
-
Raz, N.1
Torres, I.J.2
Briggs, S.D.3
Spencer, W.D.4
Thornton, A.E.5
Loken, W.J.6
Gunning, F.M.7
McQuain, J.D.8
Driesen, N.R.9
Acker, J.D.10
-
135
-
-
34249001084
-
Behavioral and emotional symptoms of children and adolescents with Prader-Willi Syndrome
-
Reddy L. A. & Pfeiffer S. I. (2007) Behavioral and emotional symptoms of children and adolescents with Prader-Willi Syndrome. Journal of Autism and Developmental Disorders 37, 830-839.
-
(2007)
Journal of Autism and Developmental Disorders
, vol.37
, pp. 830-839
-
-
Reddy, L.A.1
Pfeiffer, S.I.2
-
137
-
-
0028070159
-
Neuroanatomy of fragile X syndrome: the temporal lobe
-
Reiss A.L., Lee J. & Freund L. (1994) Neuroanatomy of fragile X syndrome: the temporal lobe. Neurology 44, 1317-1324.
-
(1994)
Neurology
, vol.44
, pp. 1317-1324
-
-
Reiss, A.L.1
Lee, J.2
Freund, L.3
-
138
-
-
0033839568
-
Brain imaging in neurogenetic conditions: realizing the potential of behavioral neurogenetics research
-
Reiss A. L., Eliez S., Schmitt J. E., Patwardhan A. & Haberecht M. (2000a) Brain imaging in neurogenetic conditions: realizing the potential of behavioral neurogenetics research. Mental Retardation and Developmental Disabilities Research Reviews 6, 186-197.
-
(2000)
Mental Retardation and Developmental Disabilities Research Reviews
, vol.6
, pp. 186-197
-
-
Reiss, A.L.1
Eliez, S.2
Schmitt, J.E.3
Patwardhan, A.4
Haberecht, M.5
-
139
-
-
0034044878
-
IV. Neuroanatomy of Williams syndrome: a high-resolution MRI study
-
Reiss A. L., Eliez S., Schmitt J. E., Straus E., Lai Z., Jones W. & Bellugi U. (2000b) IV. Neuroanatomy of Williams syndrome: a high-resolution MRI study. Journal of Cognitive Neuroscience 12(Suppl. 1), 65-73.
-
(2000)
Journal of Cognitive Neuroscience
, vol.12
, Issue.SUPPL. 1
, pp. 65-73
-
-
Reiss, A.L.1
Eliez, S.2
Schmitt, J.E.3
Straus, E.4
Lai, Z.5
Jones, W.6
Bellugi, U.7
-
140
-
-
2542625291
-
An experiment of nature: brain anatomy parallels cognition and behavior in Williams syndrome
-
Reiss A. L., Eckert M. A., Rose F. E., Karchemskiy A., Kesler S., Chang M., Reynolds M. F., Kwon H. & Galaburda A. (2004) An experiment of nature: brain anatomy parallels cognition and behavior in Williams syndrome. Journal of Neuroscience 24, 5009-5015.
-
(2004)
Journal of Neuroscience
, vol.24
, pp. 5009-5015
-
-
Reiss, A.L.1
Eckert, M.A.2
Rose, F.E.3
Karchemskiy, A.4
Kesler, S.5
Chang, M.6
Reynolds, M.F.7
Kwon, H.8
Galaburda, A.9
-
141
-
-
27644487802
-
Motion processing specialization in Williams syndrome
-
Reiss J. E., Hoffman J. E. & Landau B. (2005) Motion processing specialization in Williams syndrome. Vision Research 45, 3379-3390.
-
(2005)
Vision Research
, vol.45
, pp. 3379-3390
-
-
Reiss, J.E.1
Hoffman, J.E.2
Landau, B.3
-
142
-
-
0032129473
-
Angelman syndrome: how many genes to remain silent?
-
Rougeulle C. & Lalande M. (1998) Angelman syndrome: how many genes to remain silent? Neurogenetics 1, 229-237.
-
(1998)
Neurogenetics
, vol.1
, pp. 229-237
-
-
Rougeulle, C.1
Lalande, M.2
-
143
-
-
34249951021
-
From genes to brain: understanding brain development in neurogenetic disorders using neuroimaging techniques
-
Schaer M. & Eliez S. (2007) From genes to brain: understanding brain development in neurogenetic disorders using neuroimaging techniques. Child and Adolescent Psychiatric clinics of Noth America 16, 557-579.
-
(2007)
Child and Adolescent Psychiatric clinics of Noth America
, vol.16
, pp. 557-579
-
-
Schaer, M.1
Eliez, S.2
-
145
-
-
0035077348
-
Corpus callosum morphology of Williams syndrome: relation to genetics and behavior
-
Schmitt J. E., Eliez S., Warsofsky I. S., Bellugi U. & Reiss A. L. (2001b) Corpus callosum morphology of Williams syndrome: relation to genetics and behavior. Developmental Medicine and Child Neurology 43, 155-159.
-
(2001)
Developmental Medicine and Child Neurology
, vol.43
, pp. 155-159
-
-
Schmitt, J.E.1
Eliez, S.2
Warsofsky, I.S.3
Bellugi, U.4
Reiss, A.L.5
-
146
-
-
0034806183
-
Enlarged cerebellar vermis in Williams syndrome
-
Schmitt J. E., Eliez S., Warsofsky I. S., Bellugi U. & Reiss A. L. (2001c) Enlarged cerebellar vermis in Williams syndrome. Journal of Psychiatric Research 35, 225-229.
-
(2001)
Journal of Psychiatric Research
, vol.35
, pp. 225-229
-
-
Schmitt, J.E.1
Eliez, S.2
Warsofsky, I.S.3
Bellugi, U.4
Reiss, A.L.5
-
148
-
-
12444268426
-
Satiety dysfunction in Prader-Willi syndrome demonstrated by fMRI
-
Shapira N. A., Lessig M. C., He A. G., James G. A., Driscoll D. J. & Liu Y. (2005) Satiety dysfunction in Prader-Willi syndrome demonstrated by fMRI. Journal of Neurology, Neurosurgery and Psychiatry 76, 260-262.
-
(2005)
Journal of Neurology, Neurosurgery and Psychiatry
, vol.76
, pp. 260-262
-
-
Shapira, N.A.1
Lessig, M.C.2
He, A.G.3
James, G.A.4
Driscoll, D.J.5
Liu, Y.6
-
150
-
-
63349108247
-
Autonomic responses to dynamic displays of facial expressions in adolescents and adults with Williams syndrome
-
Skwerer P. D., Borum L., Verbalis A., Schofield C., Crawford N., Ciciolla L. & Tager-Flusberg H. (2009) Autonomic responses to dynamic displays of facial expressions in adolescents and adults with Williams syndrome. Social Cognitive and Affective Neuroscience 4, 93-100.
-
(2009)
Social Cognitive and Affective Neuroscience
, vol.4
, pp. 93-100
-
-
Skwerer, P.D.1
Borum, L.2
Verbalis, A.3
Schofield, C.4
Crawford, N.5
Ciciolla, L.6
Tager-Flusberg, H.7
-
151
-
-
0035883948
-
Health care management of adults with Down syndrome
-
Smith D. S. (2001) Health care management of adults with Down syndrome. American Family Physician 64, 1031-1038.
-
(2001)
American Family Physician
, vol.64
, pp. 1031-1038
-
-
Smith, D.S.1
-
152
-
-
0029012018
-
Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes
-
Smith A., Prasad M., Deng Z. M., Robson L., Woodage T. & Trent R. J. (1995) Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes. Archives of Disease in Childhood 72, 397-402.
-
(1995)
Archives of Disease in Childhood
, vol.72
, pp. 397-402
-
-
Smith, A.1
Prasad, M.2
Deng, Z.M.3
Robson, L.4
Woodage, T.5
Trent, R.J.6
-
154
-
-
0037135296
-
Multi-modal P3 deflation of event-related brain activity in Prader-Willi syndrome
-
Stauder J. E., Brinkman M. J. & Curfs L. M. (2002) Multi-modal P3 deflation of event-related brain activity in Prader-Willi syndrome. Neuroscience Letters 327, 99-102.
-
(2002)
Neuroscience Letters
, vol.327
, pp. 99-102
-
-
Stauder, J.E.1
Brinkman, M.J.2
Curfs, L.M.3
-
155
-
-
0018422382
-
X-linked mental retardation with macro-orchidism and the fragile site at Xq 27 or 28
-
Sutherland G. R. & Ashforth P. L. C. (1979) X-linked mental retardation with macro-orchidism and the fragile site at Xq 27 or 28. Human Genetics 48, 117-220.
-
(1979)
Human Genetics
, vol.48
, pp. 117-220
-
-
Sutherland, G.R.1
Ashforth, P.L.C.2
-
156
-
-
47349099529
-
Model syndromes for investigating social cognitive and affective neuroscience: a comparison of Autism and Williams syndrome
-
Tager-Flusberg H., Skwerer D. P. & Joseph R. M. (2006) Model syndromes for investigating social cognitive and affective neuroscience: a comparison of Autism and Williams syndrome. Social Cognitive and Affective Neuroscience 1, 175-182.
-
(2006)
Social Cognitive and Affective Neuroscience
, vol.1
, pp. 175-182
-
-
Tager-Flusberg, H.1
Skwerer, D.P.2
Joseph, R.M.3
-
157
-
-
71649104326
-
Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome)
-
Tan G. M., Arnone D., McIntosh A. M. & Ebmeier K. P. (2009) Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome). Schizophrenia Research 115, 173-181.
-
(2009)
Schizophrenia Research
, vol.115
, pp. 173-181
-
-
Tan, G.M.1
Arnone, D.2
McIntosh, A.M.3
Ebmeier, K.P.4
-
158
-
-
0035422124
-
Evidence of white matter tract disruption in MRI hyperintensities
-
Taylor W. D., Payne M. E., Krishnan K.R., Wagner H. R., Provenzale J. M., Steffens D. C. & MacFall J. R. (2001) Evidence of white matter tract disruption in MRI hyperintensities. Biological Psychiatry 50, 179-183.
-
(2001)
Biological Psychiatry
, vol.50
, pp. 179-183
-
-
Taylor, W.D.1
Payne, M.E.2
Krishnan, K.R.3
Wagner, H.R.4
Provenzale, J.M.5
Steffens, D.C.6
MacFall, J.R.7
-
159
-
-
1842683970
-
Age-related cortical grey matter reductions in non-demented Down's syndrome adults determined by MRI with voxel-based morphometry
-
Teipel S. J., Alexander G. E., Schapiro M. B., Moller H. J., Rapoport S. I. & Hampel H. (2004) Age-related cortical grey matter reductions in non-demented Down's syndrome adults determined by MRI with voxel-based morphometry. Brain 127, 811-824.
-
(2004)
Brain
, vol.127
, pp. 811-824
-
-
Teipel, S.J.1
Alexander, G.E.2
Schapiro, M.B.3
Moller, H.J.4
Rapoport, S.I.5
Hampel, H.6
-
160
-
-
20244374988
-
Abnormal cortical complexity and thickness profiles mapped in Williams syndrome
-
Thompson P. M., Lee A. D., Dutton R. A., Geaga J. A., Hayashi K. M., Eckert M. A., Bellugi U., Galaburda A. M., Korenberg J. R., Mills D. L., Toga A. W. & Reiss A. L. (2005) Abnormal cortical complexity and thickness profiles mapped in Williams syndrome. Journal of Neuroscience 25, 4146-4158.
-
(2005)
Journal of Neuroscience
, vol.25
, pp. 4146-4158
-
-
Thompson, P.M.1
Lee, A.D.2
Dutton, R.A.3
Geaga, J.A.4
Hayashi, K.M.5
Eckert, M.A.6
Bellugi, U.7
Galaburda, A.M.8
Korenberg, J.R.9
Mills, D.L.10
Toga, A.W.11
Reiss, A.L.12
-
164
-
-
33744992724
-
Symmetry of cortical folding abnormalities in Williams syndrome revealed by surface-based analyses
-
Van Essen D. C., Dierker D., Snyder A. Z., Raichle M. E., Reiss A. L. & Korenberg J. (2006) Symmetry of cortical folding abnormalities in Williams syndrome revealed by surface-based analyses. Journal of Neuroscience 26, 5470-5483.
-
(2006)
Journal of Neuroscience
, vol.26
, pp. 5470-5483
-
-
Van Essen, D.C.1
Dierker, D.2
Snyder, A.Z.3
Raichle, M.E.4
Reiss, A.L.5
Korenberg, J.6
-
165
-
-
0028803823
-
Seizure and EEG patterns in Angelman's syndrome
-
Viani F., Romeo A., Viri M., Mastrangelo M., Lalatta F., Selicorni A., Gobbi G., Lanzi G., Bettio D., Briscioli V., Segni M., Parini R. & Terzoli G. (1995) Seizure and EEG patterns in Angelman's syndrome. Journal of Child Neurology 10, 467-471.
-
(1995)
Journal of Child Neurology
, vol.10
, pp. 467-471
-
-
Viani, F.1
Romeo, A.2
Viri, M.3
Mastrangelo, M.4
Lalatta, F.5
Selicorni, A.6
Gobbi, G.7
Lanzi, G.8
Bettio, D.9
Briscioli, V.10
Segni, M.11
Parini, R.12
Terzoli, G.13
-
167
-
-
0026338111
-
Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15
-
Wagstaff J., Knoll J. H., Fleming J., Kirkness E. F., Martin-Gallardo A., Greenberg F., Graham J. M. Jr, Menninger J., Ward D., Venter J. C. & Lalande M. (1991) Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15. American Journal of Human Genetics 49, 330-337.
-
(1991)
American Journal of Human Genetics
, vol.49
, pp. 330-337
-
-
Wagstaff, J.1
Knoll, J.H.2
Fleming, J.3
Kirkness, E.F.4
Martin-Gallardo, A.5
Greenberg, F.6
Graham Jr, J.M.7
Menninger, J.8
Ward, D.9
Venter, J.C.10
Lalande, M.11
-
168
-
-
73849089533
-
Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome
-
Walter E., Mazaika P. K. & Reiss A. L. (2009) Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome. Neuroscience 164, 257-271.
-
(2009)
Neuroscience
, vol.164
, pp. 257-271
-
-
Walter, E.1
Mazaika, P.K.2
Reiss, A.L.3
-
169
-
-
0027520462
-
Williams syndrome, Down syndrome, and cognitive neuroscience
-
Wang P. P. & Bellugi U. (1993) Williams syndrome, Down syndrome, and cognitive neuroscience. American Journal of Diseases of Children 147, 1246-1251.
-
(1993)
American Journal of Diseases of Children
, vol.147
, pp. 1246-1251
-
-
Wang, P.P.1
Bellugi, U.2
-
171
-
-
0025876197
-
Down syndrome: MR quantification of brain structures and comparison with normal control subjects
-
Weis S., Weber G., Neuhold A. & Rett A. (1991) Down syndrome: MR quantification of brain structures and comparison with normal control subjects. AJNR. American Journal of Neuroradiology 12, 1207-1211.
-
(1991)
AJNR. American Journal of Neuroradiology
, vol.12
, pp. 1207-1211
-
-
Weis, S.1
Weber, G.2
Neuhold, A.3
Rett, A.4
-
172
-
-
0141758248
-
A voxel-based morphometric study of nondemented adults with Down Syndrome
-
White N. S., Alkire M. T. & Haier R. J. (2003) A voxel-based morphometric study of nondemented adults with Down Syndrome. Neuroimage 20, 393-403.
-
(2003)
Neuroimage
, vol.20
, pp. 393-403
-
-
White, N.S.1
Alkire, M.T.2
Haier, R.J.3
-
173
-
-
0036918137
-
Relationship between clinical and genetic diagnosis of Prader-Willi syndrome
-
Whittington J., Holland A., Webb T., Butler J., Clarke D. & Boer H. (2002) Relationship between clinical and genetic diagnosis of Prader-Willi syndrome. Journal of Medical Genetics 39, 926-932.
-
(2002)
Journal of Medical Genetics
, vol.39
, pp. 926-932
-
-
Whittington, J.1
Holland, A.2
Webb, T.3
Butler, J.4
Clarke, D.5
Boer, H.6
-
174
-
-
12744269033
-
Neurological aspects of the Angelman syndrome
-
Williams C. A. (2005) Neurological aspects of the Angelman syndrome. Brain and Development 27, 88-94.
-
(2005)
Brain and Development
, vol.27
, pp. 88-94
-
-
Williams, C.A.1
-
175
-
-
33748419822
-
Brain developmental abnormalities in Prader-Willi syndrome detected by diffusion tensor imaging
-
Yamada K., Matsuzawa H., Uchiyama M., Kwee I. L. & Nakada T. (2006) Brain developmental abnormalities in Prader-Willi syndrome detected by diffusion tensor imaging. Pediatrics 118, e442-e448.
-
(2006)
Pediatrics
, vol.118
-
-
Yamada, K.1
Matsuzawa, H.2
Uchiyama, M.3
Kwee, I.L.4
Nakada, T.5
-
176
-
-
17144415267
-
Neuropsychological profile and neuroimaging in patients with 22Q11.2 Deletion Syndrome: a review
-
Zinkstok J. & van Amelsvoort T. (2005) Neuropsychological profile and neuroimaging in patients with 22Q11.2 Deletion Syndrome: a review. Child Neuropsychology 11, 21-37.
-
(2005)
Child Neuropsychology
, vol.11
, pp. 21-37
-
-
Zinkstok, J.1
van Amelsvoort, T.2
|