-
1
-
-
79851512087
-
Prevalence of intellectual disability: a meta-analysis of population-based studies
-
Maulik P.K., Mascarenhas M.N., Mathers C.D., Dua T., Saxena S. Prevalence of intellectual disability: a meta-analysis of population-based studies. Res. Dev. Disabil. 2011, 32(2):419-436.
-
(2011)
Res. Dev. Disabil.
, vol.32
, Issue.2
, pp. 419-436
-
-
Maulik, P.K.1
Mascarenhas, M.N.2
Mathers, C.D.3
Dua, T.4
Saxena, S.5
-
2
-
-
77952032690
-
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
-
Miller D.T., Adam M.P., Aradhya S., Biesecker L.G., Brothman A.R., Carter N.P., Church D.M., Crolla J.A., Eichler E.E., Epstein C.J., Faucett W.A., Feuk L., et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am. J. Hum. Genet. 2010, 86:749-764.
-
(2010)
Am. J. Hum. Genet.
, vol.86
, pp. 749-764
-
-
Miller, D.T.1
Adam, M.P.2
Aradhya, S.3
Biesecker, L.G.4
Brothman, A.R.5
Carter, N.P.6
Church, D.M.7
Crolla, J.A.8
Eichler, E.E.9
Epstein, C.J.10
Faucett, W.A.11
Feuk, L.12
-
4
-
-
0034176694
-
Cloning and expression analysis of a novel gene, RP42, mapping to an autism susceptibility locus on 6q16
-
A 1
-
Mas C., Bourgeois F., Bulfone A., Levacher B., Mugnier C., Simonneau M. Cloning and expression analysis of a novel gene, RP42, mapping to an autism susceptibility locus on 6q16. Genomics 2000 Apr 1, 65(1):70-74.
-
(2000)
Genomics
, vol.65
, Issue.1
, pp. 70-74
-
-
Mas, C.1
Bourgeois, F.2
Bulfone, A.3
Levacher, B.4
Mugnier, C.5
Simonneau, M.6
-
5
-
-
8944229701
-
CDNA characterization and chromosomal mapping of two human homologs of the Drosophila dishevelled polarity gene
-
Pizzuti A., Amati F., Calabrese G., Mari A., Colosimo A., Silani V., Giardino L., Ratti A., Penso D., Calza L., Palka G., Scarlato G., et al. cDNA characterization and chromosomal mapping of two human homologs of the Drosophila dishevelled polarity gene. Hum. Mol. Genet. 1996, 5:953-958.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 953-958
-
-
Pizzuti, A.1
Amati, F.2
Calabrese, G.3
Mari, A.4
Colosimo, A.5
Silani, V.6
Giardino, L.7
Ratti, A.8
Penso, D.9
Calza, L.10
Palka, G.11
Scarlato, G.12
-
6
-
-
33947606924
-
KRIP6: a novel BTB/kelch protein regulating function of kainate receptors
-
A
-
Laezza F., Wilding T.J., Sequeira S., Coussen F., Zhang X.Z., Hill-Robinson R., Mulle C., Huettner J.E., Craig A.M. KRIP6: a novel BTB/kelch protein regulating function of kainate receptors. Mol. Cell. Neurosci. 2007 Apr, 34(4):539-550.
-
(2007)
Mol. Cell. Neurosci.
, vol.34
, Issue.4
, pp. 539-550
-
-
Laezza, F.1
Wilding, T.J.2
Sequeira, S.3
Coussen, F.4
Zhang, X.Z.5
Hill-Robinson, R.6
Mulle, C.7
Huettner, J.E.8
Craig, A.M.9
-
7
-
-
33748780075
-
STOP-like protein 21 is a novel member of the STOP family, revealing a Golgi localization of STOP proteins
-
Gory-Faure S., Windscheid V., Bosc C., Peris L., Proietto D., Franck R., Denarier E., Job D., Andrieux A. STOP-like protein 21 is a novel member of the STOP family, revealing a Golgi localization of STOP proteins. J. Biol. Chem. 2006, 281:28387-28396.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 28387-28396
-
-
Gory-Faure, S.1
Windscheid, V.2
Bosc, C.3
Peris, L.4
Proietto, D.5
Franck, R.6
Denarier, E.7
Job, D.8
Andrieux, A.9
-
8
-
-
0032757997
-
Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene
-
Ghilardi N., Wiestner A., Kikuchi M., Ohsaka A., Skoda R.C. Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene. Br. J. Haematol. 1999, 107:310-316.
-
(1999)
Br. J. Haematol.
, vol.107
, pp. 310-316
-
-
Ghilardi, N.1
Wiestner, A.2
Kikuchi, M.3
Ohsaka, A.4
Skoda, R.C.5
-
9
-
-
70349575407
-
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation
-
Graziano C., Carone S., Panza E., Marino F., Magini P., Romeo G., Pession A., Seri M. Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. Blood 2009, 114:1655-1657.
-
(2009)
Blood
, vol.114
, pp. 1655-1657
-
-
Graziano, C.1
Carone, S.2
Panza, E.3
Marino, F.4
Magini, P.5
Romeo, G.6
Pession, A.7
Seri, M.8
-
10
-
-
34250339675
-
Leukoencephalopathy upon disruption of the chloride channel ClC-2
-
Blanz J., Schweizer M., Auberson M., Maier H., Muenscher A., Hubner C.A., Jentsch T.J. Leukoencephalopathy upon disruption of the chloride channel ClC-2. J. Neurosci. 2007, 27:6581-6589.
-
(2007)
J. Neurosci.
, vol.27
, pp. 6581-6589
-
-
Blanz, J.1
Schweizer, M.2
Auberson, M.3
Maier, H.4
Muenscher, A.5
Hubner, C.A.6
Jentsch, T.J.7
-
11
-
-
0035868910
-
Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruption
-
Bosl M.R., Stein V., Hubner C., Zdebik A.A., Jordt S.E., Mukhopadhyay A.K., Davidoff M.S., Holstein A.F., Jentsch T.J. Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruption. EMBO J. 2001, 20:1289-1299.
-
(2001)
EMBO J.
, vol.20
, pp. 1289-1299
-
-
Bosl, M.R.1
Stein, V.2
Hubner, C.3
Zdebik, A.A.4
Jordt, S.E.5
Mukhopadhyay, A.K.6
Davidoff, M.S.7
Holstein, A.F.8
Jentsch, T.J.9
-
12
-
-
0029316542
-
CIC-2: a developmentally dependent chloride channel expressed in the fetal lung and downregulated after birth
-
Murray C.B., Morales M.M., Flotte T.R., McGrath-Morrow S.A., Guggino W.B., Zeitlin P.L. CIC-2: a developmentally dependent chloride channel expressed in the fetal lung and downregulated after birth. Am. J. Respir. Cell Mol. Biol. 1995, 12(6):597-604.
-
(1995)
Am. J. Respir. Cell Mol. Biol.
, vol.12
, Issue.6
, pp. 597-604
-
-
Murray, C.B.1
Morales, M.M.2
Flotte, T.R.3
McGrath-Morrow, S.A.4
Guggino, W.B.5
Zeitlin, P.L.6
-
13
-
-
40949122292
-
Effects of ETV5 (ets variant gene 5) on testis and body growth, time course of spermatogonial stem cell loss, and fertility in mice
-
Schlesser H.N., Simon L., Hofmann M.C., Murphy K.M., Murphy T., Hess R.A., Cooke P.S. Effects of ETV5 (ets variant gene 5) on testis and body growth, time course of spermatogonial stem cell loss, and fertility in mice. Biol. Reprod. 2008, 78(3):483-489.
-
(2008)
Biol. Reprod.
, vol.78
, Issue.3
, pp. 483-489
-
-
Schlesser, H.N.1
Simon, L.2
Hofmann, M.C.3
Murphy, K.M.4
Murphy, T.5
Hess, R.A.6
Cooke, P.S.7
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