-
1
-
-
0030948448
-
47,XXY (Klinefelter syndrome) and 47,XYY: Estimated rates of and indication for postnatal diagnosis with implications for prenatal counseling
-
(1997)
Prenat Diagn
, vol.17
, pp. 363-368
-
-
Abramsky, L.1
Chapplc, J.2
-
15
-
-
0001966695
-
Williams syndrome: An unusual neurocognitive profile
-
Broman S and Grafman J, editors. Atypical cognitive deficits in development disorders: Implications for brain function. Hillsdale, NJ: Lawrence Erlbaum
-
(1994)
, pp. 23-56
-
-
Bellugi, U.1
Wang, P.P.2
Jemigan, T.L.3
-
31
-
-
0025174057
-
Neuropsychological dimensions of the fragile X syndrome: Support for a non-dominant hemisphere dysfunction hypothesis
-
(1990)
Neuropsychologia
, vol.28
, pp. 9-16
-
-
Crowe, S.F.1
Hay, D.A.2
-
38
-
-
0026751517
-
Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development
-
(1992)
Am J Med Genet
, vol.43
, pp. 208-216
-
-
Devys, D.1
Biancalana, V.2
Rousseau, F.3
-
39
-
-
0027176361
-
The FMR-1 protein is cytoplasmic, most abundant in neurom and appears normal in carriers of a fragile X premutation
-
(1993)
Nat Genet
, vol.4
, pp. 335-340
-
-
Devys, D.1
Lutz, Y.2
Rouyer, N.3
-
40
-
-
0031976148
-
A cognitive affective role for the cerebellum
-
(1998)
Brain
, vol.121
, pp. 545-546
-
-
Dolan, R.J.1
-
51
-
-
0008237034
-
-
Attention deficit hyperactivity disorder in Children with Williams syndrome: Preliminary findings. Paper presented at the Williams Syndrome Association Annual Professional Conference, San Diego
-
(1994)
-
-
Finegan, J.1
Sitarenios, G.2
Smith, M.3
-
65
-
-
0031685211
-
Goosecoid-like, A gene deleted in DiGeorge and velocardiofacial syndromes, recognizes DNA with a bicoid-like specificity and is expressed in the developing mouse brain
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1497-1505
-
-
Gottlieb, S.1
Hanes, S.D.2
Golden, J.A.3
-
67
-
-
0018865534
-
The genetic aspects of Williams-Beuren syndrome and the isolated form of the supravalvular aortic stenosis. Investigation of 128 families (author's transl)
-
(1980)
Z Kardiol
, vol.69
, pp. 168-172
-
-
Grimm, T.1
Wesselhoeft, H.2
-
73
-
-
0020634258
-
The distribution of chromosomal genotypes associated with Turner's syndrome: Livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosalcism
-
(1983)
Hum Genet
, vol.64
, pp. 24-27
-
-
Hook, E.B.1
Warburton, D.2
-
94
-
-
0014969528
-
Chromosomal abnormalities in the human population: Estimation of rates based on New Haven newborn study
-
(1970)
Science
, vol.169
, pp. 495-497
-
-
Lubs, H.A.1
Ruddle, F.H.2
-
103
-
-
0015840179
-
Turner's syndrome and parietal lobe functions
-
(1973)
Cortex
, vol.9
, pp. 387-393
-
-
Money, J.1
-
111
-
-
0018099766
-
Dementia: The estimation of premorbid intelligence levels using the New Adult Reading Test
-
(1978)
Cortex
, vol.14
, pp. 234-244
-
-
Nelson, H.E.1
O'Connell, A.2
-
113
-
-
0020369350
-
Verbal deficits in children with 47,XXY and 47,XXX karyotypes: A descriptive and experimental study
-
(1982)
Brain Lang
, vol.17
, pp. 58-72
-
-
Netley, C.1
Rovet, J.2
-
118
-
-
84952117294
-
Sex chromosome abnormalities and cognitive performance: III. Field dependence, frame dependence, and failing development of perceptual stability in girls with Turner's syndrome
-
(1977)
J Psychol
, vol.96
, pp. 205-211
-
-
Nyborg, H.1
Nielsen, J.2
-
121
-
-
0029853761
-
Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: Does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?
-
(1996)
Am J Psychiatry
, vol.153
, pp. 1541-1547
-
-
Papolos, D.F.1
Faedda, G.L.2
Veit, S.3
-
135
-
-
0008231902
-
Behavioral neurogenetics research: A method for analyzing linkages among gene, brain and behavior
-
Hann D, Huffman L, Lederhendler I, Meinecke D, editors. Advancing research on developmental plasticity: Integrating the behavioral science and neuroscience of mental health. Bethesda: National Institutes of Health
-
(1998)
, pp. 83-95
-
-
Reiss, A.1
Freund, L.2
-
147
-
-
0008193668
-
-
Processing deficits in 45,X females. Paper presented at the Meeting of the American Association for the Advancement of Science, Philadelphia, PA
-
(1986)
, Issue.May
, pp. 25-28
-
-
Rovet, J.1
-
148
-
-
0002440224
-
The cognitive and neuropsychological characteristics of females with Turner syndrome
-
Berch D, Bender B, editors. Sex chromosome abnormalities and human behavior: Psychological studies. Boulder: Western Press and the Ameican Association for the Advancement of Science
-
(1990)
, pp. 38-77
-
-
Rovet, J.1
-
173
-
-
0026500706
-
The fragile-X syndrome. On the way to a behavioural phenotype
-
(1992)
Br J Psychiatry
, vol.160
, pp. 24-35
-
-
Turk, J.1
-
176
-
-
0028842919
-
Functional brain imaging studies of cortical mechanisms for memory
-
(1995)
Science
, vol.270
, pp. 769-775
-
-
Ungerleider, L.G.1
-
177
-
-
0018560695
-
Cerebellar malformations: Some pathogenetic considerations
-
(1979)
Clin Exp Neurol
, vol.16
, pp. 119-131
-
-
Urich, H.1
-
180
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.1
Pieretti, M.2
Sutcliffe, J.S.3
-
182
-
-
0003090039
-
A chromosome survey of 13,751 male newborns
-
Hook EB, Porter IH, editor. Population cytogenetics. New York: Academic Press
-
(1977)
, pp. 45-61
-
-
Walzer, S.1
Gerald, P.S.2
-
184
-
-
0032493746
-
Transmembrane neuregulins interact with LIM kinase 1, A cytoplasmic protein kinase implicated in development of visuospatial cognition
-
(1998)
J Biol Chem
, vol.273
, pp. 20525-20534
-
-
Wang, J.Y.1
Frenzel, K.E.2
Wen, D.3
-
190
-
-
0345034604
-
Characterization and expression pattern of the frizzled gene Fzd9, the mouse homolog of FZD9 which is deleted in Williams-Beuren syndrome
-
(1999)
Genomics
, vol.57
, pp. 235-248
-
-
Wang, Y.K.1
Sporle, R.2
Paperna, T.3
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