-
1
-
-
0024503559
-
A database of genetically determined neurological conditions for clinicians
-
Baraitser, M., Tomiwa, K., Wilson, J., and Winter, R. 1989. A database of genetically determined neurological conditions for clinicians. J. Neurol. Neurosurg. Psychiatry 52:106.
-
(1989)
J. Neurol. Neurosurg. Psychiatry
, vol.52
, pp. 106
-
-
Baraitser, M.1
Tomiwa, K.2
Wilson, J.3
Winter, R.4
-
2
-
-
38549117309
-
The HGNC Database in 2008 A resource for the human genome
-
Bruford, E.A., Lush, M.J.,Wright,M.W., Sneddon, T.P., Povey, S., and Birney, E. 2008. The HGNC Database in 2008: A resource for the human genome. Nucleic Acids Res. 36:D445-D448.
-
(2008)
Nucleic Acids Res
, vol.36
-
-
Bruford, E.A.1
Lush, M.J.2
Wright, M.W.3
Sneddon, T.P.4
Povey, S.5
Birney, E.6
-
3
-
-
77950461601
-
Origins and functional impact of copy number variation in the human genome
-
Conrad, D.F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y., Aerts, J., Andrews, T.D., Barnes, C., and Campbell, P. 2009. Origins and functional impact of copy number variation in the human genome. Nature 464:704-712.
-
(2009)
Nature
, vol.464
, pp. 704-712
-
-
Conrad, D.F.1
Pinto, D.2
Redon, R.3
Feuk, L.4
Gokcumen, O.5
Zhang, Y.6
Aerts, J.7
Andrews, T.D.8
Barnes, C.9
Campbell, P.10
-
4
-
-
70450257883
-
A novel microdeletion syndrome involving 5q14 3-q15: Clinical and molecular cytogenetic characterization of three patients
-
Engels, H., Wohlleber, E., Zink, A., Hoyer, J., Ludwig, K.U., Brockschmidt, F.F., Wieczorek, D.,Moog, U., Hellmann-Mersch,B., and Weber, R.G. 2009. A novel microdeletion syndrome involving 5q14. 3-q15: Clinical and molecular cytogenetic characterization of three patients. Eur. J. Hum. Genet. 17:1592-1599.
-
(2009)
Eur. J. Hum. Genet.
, vol.17
, pp. 1592-1599
-
-
Engels, H.1
Wohlleber, E.2
Zink, A.3
Hoyer, J.4
Ludwig, K.U.5
Brockschmidt, F.F.6
Wieczorek, D.7
Moog, U.8
Hellmann-Mersch, B.9
Weber, R.G.10
-
5
-
-
79960080588
-
The deciphering developmental disorders (DDD) study
-
Firth, H.V. and Wright, C.F. 2011. The deciphering developmental disorders (DDD) study. Dev. Med. Child Neurol. 53:702-703.
-
(2011)
Dev. Med. Child Neurol.
, vol.53
, pp. 702-703
-
-
Firth, H.V.1
Wright, C.F.2
-
6
-
-
64149099583
-
DECIPHER: Database of chromosomal imbalance and phenotype in humans using Ensembl resources
-
Firth, H.V., Richards, S.M., Bevan, A.P., Clayton, S., Corpas, M., Rajan, D., Van Vooren, S., Moreau, Y., Pettett, R.M., and Carter, N.P. 2009. DECIPHER: Database of chromosomal imbalance and phenotype in humans using Ensembl resources. Am. J. Hum. Genet. 84:524-533.
-
(2009)
Am. J. Hum. Genet.
, vol.84
, pp. 524-533
-
-
Firth, H.V.1
Richards, S.M.2
Bevan, A.P.3
Clayton, S.4
Corpas, M.5
Rajan, D.6
Van Vooren, S.7
Moreau, Y.8
Pettett, R.M.9
Carter, N.P.10
-
7
-
-
78651289449
-
Ensembl 2011
-
Flicek, P., Amode, M., Barrell, D., Beal, K., Brent, S., Chen,Y., Clapham, P., Coates, G., Fairley, S., and Fitzgerald, S. 2010. Ensembl 2011. Nucleic Acids Res. 39:D800-D806.
-
(2010)
Nucleic Acids Res
, vol.39
-
-
Flicek, P.1
Amode, M.2
Barrell, D.3
Beal, K.4
Brent, S.5
Chen, Y.6
Clapham, P.7
Coates, G.8
Fairley, S.9
Fitzgerald, S.10
-
8
-
-
78449263023
-
Characterising and predicting haploinsufficiency in the human genome
-
Huang, N., Lee, I., Marcotte, E.M., Hurles, M.E., and Schierup, M.H.2010. Characterising and predicting haploinsufficiency in the human genome. PLoS Genet. 6:e1001154.
-
(2010)
PLoS Genet
, vol.6
-
-
Huang, N.1
Lee, I.2
Marcotte, E.M.3
Hurles, M.E.4
Schierup, M.H.5
-
9
-
-
77950860862
-
Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series
-
Jaillard, S., Drunat, S., Bendavid, C., Aboura, A., Etcheverry, A., Journel, H., Delahaye, A., Pasquier, L., Bonneau,D., and Toutain, A. 2010. Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series. Eur. J. Med. Genet. 53:66-75.
-
(2010)
Eur. J. Med. Genet.
, vol.53
, pp. 66-75
-
-
Jaillard, S.1
Drunat, S.2
Bendavid, C.3
Aboura, A.4
Etcheverry, A.5
Journel, H.6
Delahaye, A.7
Pasquier, L.8
Bonneau, D.9
Toutain, A.10
-
10
-
-
74549139226
-
MEF2C haploinsufficiency caused by either microdeletion of the 5q14 [3] region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
-
Le Meur, N., Holder-Espinasse, M., Jaillard, S., Goldenberg, A., Joriot, S., Amati-Bonneau, P., Guichet, A., Barth, M., Charollais, A., and Journel, H. 2010. MEF2C haploinsufficiency caused by either microdeletion of the 5q14. [3] region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. J. Med. Genet. 47:22.
-
(2010)
J. Med. Genet.
, vol.47
, pp. 22
-
-
Le Meur, N.1
Holder-Espinasse, M.2
Jaillard, S.3
Goldenberg, A.4
Joriot, S.5
Amati-Bonneau, P.6
Guichet, A.7
Barth, M.8
Charollais, A.9
Journel, H.10
-
11
-
-
84975804424
-
Mapping copy number variation by populationscale genome sequencing
-
Mills, R.E., Walter, K., Stewart, C., Handsaker, R.E., Chen, K., Alkan, C., Abyzov, A., Yoon, S.C., Ye, K., and Cheetham, R.K. 2011. Mapping copy number variation by populationscale genome sequencing. Nature 470:59-65.
-
(2011)
Nature
, vol.470
, pp. 59-65
-
-
Mills, R.E.1
Walter, K.2
Stewart, C.3
Handsaker, R.E.4
Chen, K.5
Alkan, C.6
Abyzov, A.7
Yoon, S.C.8
Ye, K.9
Cheetham, R.K.10
-
12
-
-
84954358609
-
The human phenotype ontology: A tool for annotating and analyzing human hereditary disease
-
Robinson, P.N., Köhler, S., Bauer, S., Seelow, D., Horn, D., and Mundlos, S. 2008. The human phenotype ontology: A tool for annotating and analyzing human hereditary disease. Am. J. Hum. Genet. 83:610-615.
-
(2008)
Am. J. Hum. Genet.
, vol.83
, pp. 610-615
-
-
Robinson, P.N.1
Köhler, S.2
Bauer, S.3
Seelow, D.4
Horn, D.5
Mundlos, S.6
-
13
-
-
78651313597
-
The UCSC cancer genomics browser: Update 2011
-
Sanborn, J.,Benz, S.,Craft,B., Szeto, C.,Kober, K., Meyer, L., Vaske, C., Goldman, M., Smith, K., and Kuhn, R. 2010. The UCSC cancer genomics browser: Update 2011. Nucleic Acids Research. 39:D951-D959.
-
(2010)
Nucleic Acids Research
, vol.39
-
-
Sanborn, J.1
Benz, S.2
Craft, B.3
Szeto, C.4
Kober, K.5
Meyer, L.6
Vaske, C.7
Goldman, M.8
Smith, K.9
Kuhn, R.10
-
14
-
-
34249680839
-
Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation
-
Stankiewicz, P. and Beaudet, A. 2007. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr. Opin. Genet. Dev. 17:182-192.
-
(2007)
Curr. Opin. Genet. Dev.
, vol.17
, pp. 182-192
-
-
Stankiewicz, P.1
Beaudet, A.2
-
15
-
-
0023388046
-
The London Dysmorphology Database
-
Winter, R.M. and Baraitser, M. 1987. The London Dysmorphology Database. J. Med. Genet. 24:509.
-
(1987)
J. Med. Genet.
, vol.24
, pp. 509
-
-
Winter, R.M.1
Baraitser, M.2
-
16
-
-
77952715676
-
Mutations in MEF2C from the 5q14 3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression
-
Zweier, M., Gregor, A., Zweier, C., Engels, H., Sticht, H.,Wohlleber, E., Bijlsma, E.K., Holder, S.E., Zenker, M., and Rossier, E. 2010. Mutations in MEF2C from the 5q14. 3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Hum. Mutat. 31:722-733.
-
(2010)
Hum. Mutat.
, vol.31
, pp. 722-733
-
-
Zweier, M.1
Gregor, A.2
Zweier, C.3
Engels, H.4
Sticht, H.5
Wohlleber, E.6
Bijlsma, E.K.7
Holder, S.E.8
Zenker, M.9
Rossier, E.10
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