-
1
-
-
0036250571
-
From sequence to phenotype: Reverse genetics in Drosophila melanogaster
-
ADAMS, M. D., and J. J. SEKELSKY, 2002 From sequence to phenotype: reverse genetics in Drosophila melanogaster. Nat. Rev. Genet. 3: 189-198.
-
(2002)
Nat. Rev. Genet.
, vol.3
, pp. 189-198
-
-
Adams, M.D.1
Sekelsky, J.J.2
-
2
-
-
0034708480
-
The genome sequence of Drosophila melanogaster
-
ADAMS, M. D., S. E. CELNIKER, R. A. HOLT, C. A. EVANS, J. D. GOCAYNE et al., 2000 The genome sequence of Drosophila melanogaster. Science 287: 2185-2195.
-
(2000)
Science
, vol.287
, pp. 2185-2195
-
-
Adams, M.D.1
Celniker, S.E.2
Holt, R.A.3
Evans, C.A.4
Gocayne, J.D.5
-
3
-
-
0031918845
-
The etiology of developmental delay
-
AICARDI, J., 1998 The etiology of developmental delay. Semin. Pediatr. Neurol. 5: 15-20.
-
(1998)
Semin. Pediatr. Neurol.
, vol.5
, pp. 15-20
-
-
Aicardi, J.1
-
4
-
-
0033626303
-
A case of Hoyeraal-Hreidarsson syndrome: Delayed myelination and hypoplasia of corpus callosum are other important signs
-
AKABOSHI, S., M. YOSHIMURA, T. HARA, H. KAGEYAMA, K. NISHIKWA et al., 2000 A case of Hoyeraal-Hreidarsson syndrome: delayed myelination and hypoplasia of corpus callosum are other important signs. Neuropediatrics 31: 141-144.
-
(2000)
Neuropediatrics
, vol.31
, pp. 141-144
-
-
Akaboshi, S.1
Yoshimura, M.2
Hara, T.3
Kageyama, H.4
Nishikwa, K.5
-
5
-
-
0033855731
-
Activating and inactivating mutations in the human GNAS1 gene
-
ALDRED, M. A., and R. C. TREMBATH, 2000 Activating and inactivating mutations in the human GNAS1 gene. Hum. Mutat. 16: 183-189.
-
(2000)
Hum. Mutat.
, vol.16
, pp. 183-189
-
-
Aldred, M.A.1
Trembath, R.C.2
-
6
-
-
0031710557
-
PAK3 mutation in nonsyndromic X-linked mental retardation
-
ALLEN, K. M., J. G. GLEESON, S. BAGRODIA, M. W. PARTINGTON, J. C. MACMILLAN et al., 1998 PAK3 mutation in nonsyndromic X-linked mental retardation. Nat. Genet. 20: 25-30.
-
(1998)
Nat. Genet.
, vol.20
, pp. 25-30
-
-
Allen, K.M.1
Gleeson, J.G.2
Bagrodia, S.3
Partington, M.W.4
Macmillan, J.C.5
-
7
-
-
0037072286
-
The neurogenetics of mucolipidosis type IV
-
ALTARESCU, G., M. SUN, D. F. MOORE, J. A. SMITH, E. A. WIGGS et al., 2002 The neurogenetics of mucolipidosis type IV. Neurology 59: 306-313.
-
(2002)
Neurology
, vol.59
, pp. 306-313
-
-
Altarescu, G.1
Sun, M.2
Moore, D.F.3
Smith, J.A.4
Wiggs, E.A.5
-
8
-
-
0030801002
-
Gapped BLAST and PSI-BLAST: A new generation of protein database search programs
-
ALTSCHUL, S. F., T. L. MADDEN, A. A. SCHAFFER, J. ZHANG, Z. ZHANG et al., 1997 Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res. 25: 3389-3402.
-
(1997)
Nucleic Acids Res
, vol.25
, pp. 3389-3402
-
-
Altschul, S.F.1
Madden, T.L.2
Schaffer, A.A.3
Zhang, J.4
Zhang, Z.5
-
9
-
-
0036156243
-
Brain function in Duchenne muscular dystrophy
-
ANDERSON, J. L., S. I. HEAD, C. RAE and J. W. MORLEY, 2002 Brain function in Duchenne muscular dystrophy. Brain 125: 4-13.
-
(2002)
Brain
, vol.125
, pp. 4-13
-
-
Anderson, J.L.1
Head, S.I.2
Rae, C.3
Morley, J.W.4
-
10
-
-
0035166973
-
The InterPro database, an integrated documentation resource for protein families, domains and functional sites
-
APWEILER, R., T. K. ATTWOOD, A. BAIROCH, A. BATEMAN, E. BIRNEY et al., 2001 The InterPro database, an integrated documentation resource for protein families, domains and functional sites. Nucleic Acids Res. 29: 37-40.
-
(2001)
Nucleic Acids Res.
, vol.29
, pp. 37-40
-
-
Apweiler, R.1
Attwood, T.K.2
Bairoch, A.3
Bateman, A.4
Birney, E.5
-
11
-
-
0035201049
-
Rett syndrome neuropathology review 2000
-
ARMSTRONG, D. D., 2001 Rett syndrome neuropathology review 2000. Brain Dev. 23 (Suppl. 1): S72-S76.
-
(2001)
Brain Dev.
, vol.23
, Issue.SUPPL. 1
-
-
Armstrong, D.D.1
-
12
-
-
0035496395
-
A longitudinal study of active treatment of adaptive skills of individuals with profound mental retardation
-
BAT-HAEE, M. A., 2001 A longitudinal study of active treatment of adaptive skills of individuals with profound mental retardation. Psychol. Rep. 89: 345-354.
-
(2001)
Psychol. Rep.
, vol.89
, pp. 345-354
-
-
Bat-Haee, M.A.1
-
13
-
-
0019985203
-
Morphologic and histoanatomic observations of the brain in untreated human phenylketonuria
-
BAUMAN, M. L., and T. L. KEMPER, 1982 Morphologic and histoanatomic observations of the brain in untreated human phenylketonuria. Acta Neuropathol. 58: 55-63.
-
(1982)
Acta Neuropathol.
, vol.58
, pp. 55-63
-
-
Bauman, M.L.1
Kemper, T.L.2
-
14
-
-
7344219887
-
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor
-
BIENVENU, T., V. DES PORTES, A. SAINT MARTIN, N. MCDONELL, P. BILLUART et al. 1998 Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor. Hum. Mol. Genet. 7: 1311-1315.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1311-1315
-
-
Bienvenu, T.1
Des Portes, V.2
Saint Martin, A.3
Mcdonell, N.4
Billuart, P.5
-
15
-
-
0034648492
-
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation
-
BIENVENU, T., V. DES PORTES, N. MCDONELL, A. CARRIE, R. ZEMNI, et al. 2000 Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. Am. J. Med. Genet. 93: 294-298.
-
(2000)
Am. J. Med. Genet.
, vol.93
, pp. 294-298
-
-
Bienvenu, T.1
Des Portes, V.2
Mcdonell, N.3
Carrie, A.4
Zemni, R.5
-
16
-
-
0032580161
-
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
-
BILLUART, P., T. BIENVENU, N. RONCE, V. DES PORTES, M. C. VINET, et al. 1998 Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature 392: 923-926.
-
(1998)
Nature
, vol.392
, pp. 923-926
-
-
Billuart, P.1
Bienvenu, T.2
Ronce, N.3
Des Portes, V.4
Vinet, M.C.5
-
17
-
-
0035913909
-
Regulating axon branch stability: The role of p190 RhoGAP in repressing a retraction signaling pathway
-
BILLUART, P., C. G. WINTER, A. MARESH, X. ZHAO and L. LUO, 2001 Regulating axon branch stability: the role of p190 RhoGAP in repressing a retraction signaling pathway. Cell 107: 195-207.
-
(2001)
Cell
, vol.107
, pp. 195-207
-
-
Billuart, P.1
Winter, C.G.2
Maresh, A.3
Zhao, X.4
Luo, L.5
-
18
-
-
0037130587
-
Activity-dependent regulation of genes implicated in X-linked non-specific mental retardation
-
BODA, B., C. MAS and D. MULLER, 2002 Activity-dependent regulation of genes implicated in X-linked non-specific mental retardation. Neuroscience 114: 13-17.
-
(2002)
Neuroscience
, vol.114
, pp. 13-17
-
-
Boda, B.1
Mas, C.2
Muller, D.3
-
19
-
-
0036745861
-
Integrins in development: Moving on, responding to, and sticking to the extracellular matrix
-
BOKEL, C., and N. H. BROWN, 2002 Integrins in development: moving on, responding to, and sticking to the extracellular matrix. Dev. Cell 3: 311-321.
-
(2002)
Dev. Cell
, vol.3
, pp. 311-321
-
-
Bokel, C.1
Brown, N.H.2
-
20
-
-
0036787796
-
ASPM is a major determinant of cerebral cortical size
-
BONO, J., E. ROBERTS, G. H. MOCHIDA, D. J. HAMPSHIRE, S. SCOTT et al., 2002 ASPM is a major determinant of cerebral cortical size. Nat. Genet. 32: 316-320.
-
(2002)
Nat. Genet.
, vol.32
, pp. 316-320
-
-
Bono, J.1
Roberts, E.2
Mochida, G.H.3
Hampshire, D.J.4
Scott, S.5
-
21
-
-
0031441007
-
The Drosophila eyes absent gene directs ectopic eye formation in a pathway conserved between flies and vertebrates
-
BONINI, N. M., Q. T. BUI, G. L. GRAY-BOARD and J. M. WARRICK, 1997 The Drosophila eyes absent gene directs ectopic eye formation in a pathway conserved between flies and vertebrates. Development 124: 4819-4826.
-
(1997)
Development
, vol.124
, pp. 4819-4826
-
-
Bonini, N.M.1
Bui, Q.T.2
Gray-Board, G.L.3
Warrick, J.M.4
-
22
-
-
0034056133
-
Online Mendelian Inheritance in Man (OMIM) as a knowledge base for human developmental disorders
-
BOYADJIEV, S. A., and E. W. JABS, 2000 Online Mendelian Inheritance in Man (OMIM) as a knowledge base for human developmental disorders. Clin. Genet. 57: 253-266.
-
(2000)
Clin. Genet.
, vol.57
, pp. 253-266
-
-
Boyadjiev, S.A.1
Jabs, E.W.2
-
23
-
-
0036128449
-
Identification of novel Drosophila neural precursor genes using a differential embryonic head cDNA screen
-
BRODY, T., C. STIVERS, J. NAGLE and W. F. ODENWALD, 2002 Identification of novel Drosophila neural precursor genes using a differential embryonic head cDNA screen. Mech. Dev. 113: 41-59.
-
(2002)
Mech. Dev.
, vol.113
, pp. 41-59
-
-
Brody, T.1
Stivers, C.2
Nagle, J.3
Odenwald, W.F.4
-
24
-
-
0035311372
-
Holoprosencephaly due to mutations in ZIC2: Alanine tract expansion mutations may be caused by parental somatic recombination
-
BROWN, L. Y., S. ODENT, V. DAVID, M. BLAYAU, C. DUBOURG et al., 2001 Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination. Hum. Mol. Genet. 10: 791-796.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 791-796
-
-
Brown, L.Y.1
Odent, S.2
David, V.3
Blayau, M.4
Dubourg, C.5
-
25
-
-
0036744745
-
Formation of neuroblasts in the embryonic central nervous system of Drosophila melanogaster is controlled by SoxNeuro
-
BUESCHER, M., F. S. HING and W. CHIA, 2002 Formation of neuroblasts in the embryonic central nervous system of Drosophila melanogaster is controlled by SoxNeuro. Development 129: 4193-4203.
-
(2002)
Development
, vol.129
, pp. 4193-4203
-
-
Buescher, M.1
Hing, F.S.2
Chia, W.3
-
26
-
-
0035257725
-
Teaching mathematics to students with mild-to-moderate mental retardation: A review of the literature
-
BUTLER, F. M., S. P. MILLER, K. H. LEE and T. PIERCE, 2001 Teaching mathematics to students with mild-to-moderate mental retardation: a review of the literature. Ment. Retard. 39: 20-31.
-
(2001)
Ment. Retard.
, vol.39
, pp. 20-31
-
-
Butler, F.M.1
Miller, S.P.2
Lee, K.H.3
Pierce, T.4
-
27
-
-
0031892814
-
Single neuron mosaics of the Drosophila gigas mutant project beyond normal targets and modify behavior
-
CANAL, I., A. ACEBES and A. FERRUS, 1998 Single neuron mosaics of the Drosophila gigas mutant project beyond normal targets and modify behavior. J. Neurosci. 18: 999-1008.
-
(1998)
J. Neurosci.
, vol.18
, pp. 999-1008
-
-
Canal, I.1
Acebes, A.2
Ferrus, A.3
-
28
-
-
0032216667
-
Rubinstein-Taybi syndrome. Review of 732 cases and analysis of the typical traits
-
CANTANI, A., and D. GAGLIESI, 1998 Rubinstein-Taybi syndrome. Review of 732 cases and analysis of the typical traits. Eur. Rev. Med. Pharmacol. Sci. 2: 81-87.
-
(1998)
Eur. Rev. Med. Pharmacol. Sci.
, vol.2
, pp. 81-87
-
-
Cantani, A.1
Gagliesi, D.2
-
29
-
-
0036135783
-
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1)
-
CARDOSO, C., R. J. LEVENTER, J. J. DOWLING, H. L. WARD, J. CHUNG et al., 2002 Clinical and molecular basis of classical lissencephaly: mutations in the LIS1 gene (PAFAH1B1). Hum. Mutat. 19:4-15.
-
(2002)
Hum. Mutat.
, vol.19
, pp. 4-15
-
-
Cardoso, C.1
Leventer, R.J.2
Dowling, J.J.3
Ward, H.L.4
Chung, J.5
-
30
-
-
18144443930
-
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location
-
CHEADLE, J. P., H. GILL, N. FLEMING, J. MAYNARD, A. KERR et al., 2000 Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum. Mol. Genet. 9: 1119-1129.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1119-1129
-
-
Cheadle, J.P.1
Gill, H.2
Fleming, N.3
Maynard, J.4
Kerr, A.5
-
31
-
-
0032872234
-
Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation
-
CHELLY, J., 1999 Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation. Hum. Mol. Genet. 8: 1833-1838.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1833-1838
-
-
Chelly, J.1
-
33
-
-
0033646624
-
Morphological correlates of mitochondrial dysfunction in children
-
CHOW, C. W., and D. R. THORBURN, 2000 Morphological correlates of mitochondrial dysfunction in children. Hum. Reprod. 15 (Suppl. 2): 68-78.
-
(2000)
Hum. Reprod.
, vol.15
, Issue.SUPPL. 2
, pp. 68-78
-
-
Chow, C.W.1
Thorburn, D.R.2
-
34
-
-
0033570344
-
Modulation of the light response by cAMP in Drosophila photoreceptors
-
CHYB, S., W. HEVERS, M. FORTE, W. J. WOLFGANG, Z. SELINGER et al., 1999 Modulation of the light response by cAMP in Drosophila photoreceptors. J. Neurosci. 19: 8799-8807.
-
(1999)
J. Neurosci.
, vol.19
, pp. 8799-8807
-
-
Chyb, S.1
Hevers, W.2
Forte, M.3
Wolfgang, W.J.4
Selinger, Z.5
-
35
-
-
0029038905
-
Drosophila midgut morphogenesis requires the function of the segmentation gene odd-paired
-
CIMBORA, D. M., and S. SAKONJU, 1995 Drosophila midgut morphogenesis requires the function of the segmentation gene odd-paired. Dev. Biol. 169: 580-595.
-
(1995)
Dev. Biol.
, vol.169
, pp. 580-595
-
-
Cimbora, D.M.1
Sakonju, S.2
-
36
-
-
0037328861
-
Angelman syndrome: A review of the clinical and genetic aspects
-
CLAYTON-SMITH, J., and L. LAAN, 2003 Angelman syndrome: a review of the clinical and genetic aspects. J. Med. Genet. 40: 87-95.
-
(2003)
J. Med. Genet.
, vol.40
, pp. 87-95
-
-
Clayton-Smith, J.1
Laan, L.2
-
37
-
-
0037174622
-
The developing synapse: Construction and modulation of synaptic structures and circuits
-
COHEN-CORY, S., 2002 The developing synapse: construction and modulation of synaptic structures and circuits. Science 298: 770-776.
-
(2002)
Science
, vol.298
, pp. 770-776
-
-
Cohen-Cory, S.1
-
38
-
-
0030449882
-
Associative learning disrupted by impaired Gs signaling in Drosophila mushroom bodies
-
CONNOLLY, J. B., I. J. ROBERTS, J. D. ARMSTRONG, K. KAISER, M. FORTE et al., 1996 Associative learning disrupted by impaired Gs signaling in Drosophila mushroom bodies. Science 274: 2104-2107.
-
(1996)
Science
, vol.274
, pp. 2104-2107
-
-
Connolly, J.B.1
Roberts, I.J.2
Armstrong, J.D.3
Kaiser, K.4
Forte, M.5
-
39
-
-
0035870846
-
MECP2 is highly mutated in X-linked mental retardation
-
COUVERT, P., T. BIENVENU, C. AQUAVIVA, K. POIRIER, C. MORAINE et al., 2001 MECP2 is highly mutated in X-linked mental retardation. Hum. Mol. Genet. 10: 941-946.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 941-946
-
-
Couvert, P.1
Bienvenu, T.2
Aquaviva, C.3
Poirier, K.4
Moraine, C.5
-
40
-
-
0034641894
-
New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome
-
COX, T. C., L. R. ALLEN, L. L. COX, B. HOPWOOD, B. GOODWIN et al., 2000 New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. Hum. Mol. Genet. 9: 2553-2562.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2553-2562
-
-
Cox, T.C.1
Allen, L.R.2
Cox, L.L.3
Hopwood, B.4
Goodwin, B.5
-
41
-
-
0342470582
-
Identification and evaluation of mental retardation
-
DAILY, D. K., H. H. ARDINGER and G. E. HOLMES, 2000 Identification and evaluation of mental retardation. Am. Fam. Physician 61: 1059-1067.
-
(2000)
Am. Fam. Physician
, vol.61
, pp. 1059-1067
-
-
Daily, D.K.1
Ardinger, H.H.2
Holmes, G.E.3
-
42
-
-
0027229686
-
Nutrition in the management of inborn errors of metabolism
-
DASHMAN, T., and C. SANSARICQ, 1993 Nutrition in the management of inborn errors of metabolism. Clin. Lab. Med. 13: 407-432.
-
(1993)
Clin. Lab. Med.
, vol.13
, pp. 407-432
-
-
Dashman, T.1
Sansaricq, C.2
-
43
-
-
0036922442
-
Agenesis and dysgenesis of the corpus callosum
-
DAVILA-GUTIERREZ, G., 2002 Agenesis and dysgenesis of the corpus callosum. Semin. Pediatr. Neurol. 9: 292-301.
-
(2002)
Semin. Pediatr. Neurol.
, vol.9
, pp. 292-301
-
-
Davila-Gutierrez, G.1
-
44
-
-
0037083485
-
Eph receptor tyrosine kinase-mediated formation of a topographic map in the Drosophila visual system
-
DEARBORN, R., Q. HE, S. KUNES and Y. DAI, 2002 Eph receptor tyrosine kinase-mediated formation of a topographic map in the Drosophila visual system. J. Neurosci. 22: 1338-1349.
-
(2002)
J. Neurosci.
, vol.22
, pp. 1338-1349
-
-
Dearborn, R.1
He, Q.2
Kunes, S.3
Dai, Y.4
-
45
-
-
0037071905
-
Drosophila lacking dfmr1 activity show defects in circadian output and fail to maintain courtship interest
-
DOCKENDORFF, T. C., H. S. SU, S. M. MCBRIDE, Z. YANG, C. H. CHOI et al., 2002 Drosophila lacking dfmr1 activity show defects in circadian output and fail to maintain courtship interest. Neuron 34: 973-984.
-
(2002)
Neuron
, vol.34
, pp. 973-984
-
-
Dockendorff, T.C.1
Su, H.S.2
Mcbride, S.M.3
Yang, Z.4
Choi, C.H.5
-
47
-
-
0037217478
-
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes
-
DOUGLAS, J., S. HANKS, I. K. TEMPLE, S. DAVIES, A. MURRAY et al., 2003 NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am. J. Hum. Genet. 72: 132-143.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 132-143
-
-
Douglas, J.1
Hanks, S.2
Temple, I.K.3
Davies, S.4
Murray, A.5
-
48
-
-
0031923221
-
Gene discovery in Drosophila: New insights for learning and memory
-
DUBNAU, J., and T. TULLY, 1998 Gene discovery in Drosophila: new insights for learning and memory. Annu. Rev. Neurosci. 21: 407-444.
-
(1998)
Annu. Rev. Neurosci.
, vol.21
, pp. 407-444
-
-
Dubnau, J.1
Tully, T.2
-
49
-
-
0037452563
-
The staufen/pumilio pathway is involved in Drosophila long-term memory
-
DUBNAU, J., A. S. CHIANG, L. GRADY, H. BARDITCH, S. GOSSWEILER et al., 2003 The staufen/pumilio pathway is involved in Drosophila long-term memory. Curr. Biol. 13: 286-296.
-
(2003)
Curr. Biol.
, vol.13
, pp. 286-296
-
-
Dubnau, J.1
Chiang, A.S.2
Grady, L.3
Barditch, H.4
Gossweiler, S.5
-
50
-
-
0037213551
-
Vertebrate evolution: Doubling and shuffling with a full deck
-
DURAND, D., 2003 Vertebrate evolution: doubling and shuffling with a full deck. Trends Genet. 19: 2-5.
-
(2003)
Trends Genet.
, vol.19
, pp. 2-5
-
-
Durand, D.1
-
51
-
-
0036850976
-
De novo GLI3 mutation in acrocallosal syndrome: Broadening the phenotypic spectrum of GLI3 defects and overlap with murine models
-
ELSON, E., R. PERVEEN, D. DONNAI, S. WALL and G. C. M. BLACK, 2002 De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. J. Med. Genet. 39: 804-806.
-
(2002)
J. Med. Genet.
, vol.39
, pp. 804-806
-
-
Elson, E.1
Perveen, R.2
Donnai, D.3
Wall, S.4
Black, G.C.M.5
-
52
-
-
0034305621
-
Glial fibrillary acidic protein: GFAP-thirty-one years (1969-2000)
-
ENG, L. F., R. S. GHIRNIKAR and Y. L. LEE, 2000 Glial fibrillary acidic protein: GFAP-thirty-one years (1969-2000). Neurochem. Res. 25: 1439-1451.
-
(2000)
Neurochem. Res.
, vol.25
, pp. 1439-1451
-
-
Eng, L.F.1
Ghirnikar, R.S.2
Lee, Y.L.3
-
53
-
-
0030707886
-
A number of schizencephaly patients including two brothers are heterozygous for germline mutations in the homeobox gene EMX2
-
FAIELLA, A., S. BRUNELLI, T. GRANATA, L. D'INCERTI, R. CARDINI et al., 1997 A number of schizencephaly patients including two brothers are heterozygous for germline mutations in the homeobox gene EMX2. Eur. J. Hum. Genet. 5: 186-190.
-
(1997)
Eur. J. Hum. Genet.
, vol.5
, pp. 186-190
-
-
Faiella, A.1
Brunelli, S.2
Granata, T.3
D'incerti, L.4
Cardini, R.5
-
54
-
-
0034704752
-
A Drosophila model of Parkinson's disease
-
FEANY, M. B., and W. W. BENDER, 2000 A Drosophila model of Parkinson's disease. Nature 404: 394-398.
-
(2000)
Nature
, vol.404
, pp. 394-398
-
-
Feany, M.B.1
Bender, W.W.2
-
57
-
-
0025607925
-
The gene Serrate encodes a putative EGF-like transmembrane protein essential for proper ectodermal development in Drosophila melanogaster
-
FLEMING, R. J., T. N. SCOTTGALE, R. J. DIEDERICH and S. ARTAVANIS-TSAKONAS, 1990 The gene Serrate encodes a putative EGF-like transmembrane protein essential for proper ectodermal development in Drosophila melanogaster. Genes Dev. 4: 2188-2201.
-
(1990)
Genes Dev.
, vol.4
, pp. 2188-2201
-
-
Fleming, R.J.1
Scottgale, T.N.2
Diederich, R.J.3
Artavanis-Tsakonas, S.4
-
58
-
-
0036081052
-
The FlyBase database of the Drosophila genome projects and community literature
-
FLYBASE CONSORTIUM, 2002 The FlyBase database of the Drosophila genome projects and community literature. Nucleic Acids Res. 30: 106-108.
-
(2002)
Nucleic Acids Res.
, vol.30
, pp. 106-108
-
-
-
60
-
-
0032422555
-
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia
-
FOX, J. W., E. D. LAMPERTI, Y. Z. EKSIOGLU, S. E. HONG, Y. FENG et al., 1998 Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 21: 1315-1325.
-
(1998)
Neuron
, vol.21
, pp. 1315-1325
-
-
Fox, J.W.1
Lamperti, E.D.2
Eksioglu, Y.Z.3
Hong, S.E.4
Feng, Y.5
-
61
-
-
0036948994
-
X-linked mental retardation: Vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms
-
FRINTS, S., G. FROYEN, P. MARYNEN and J. P. FRYNS, 2002 X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms. Clin. Genet. 62: 423-432.
-
(2002)
Clin. Genet.
, vol.62
, pp. 423-432
-
-
Frints, S.1
Froyen, G.2
Marynen, P.3
Fryns, J.P.4
-
62
-
-
0037904827
-
Doublecortin functions at the extremities of growing neuronal processes
-
FRIOCOURT, G., A. KOULAKOFF, P. CHAFEY, D. BOUCHER, F. FAUCHEREAU et al., 2003 Doublecortin functions at the extremities of growing neuronal processes. Cereb. Cortex 13: 620-626.
-
(2003)
Cereb. Cortex
, vol.13
, pp. 620-626
-
-
Friocourt, G.1
Koulakoff, A.2
Chafey, P.3
Boucher, D.4
Fauchereau, F.5
-
63
-
-
0034525271
-
The EGF and FGF receptors mediate neuroglian function to control growth cone decisions during sensory axon guidance in Drosophila
-
GARCIA-ALONSO, L., S. ROMANI and F. JIMENEZ, 2000 The EGF and FGF receptors mediate neuroglian function to control growth cone decisions during sensory axon guidance in Drosophila. Neuron 28: 741-752.
-
(2000)
Neuron
, vol.28
, pp. 741-752
-
-
Garcia-Alonso, L.1
Romani, S.2
Jimenez, F.3
-
64
-
-
0034887203
-
Creating the gene ontology resource: Design and implementation
-
GENE ONTOLOGY CONSORTIUM, 2001 Creating the gene ontology resource: design and implementation. Genome Res. 11: 1425-1433.
-
(2001)
Genome Res.
, vol.11
, pp. 1425-1433
-
-
-
65
-
-
0034522528
-
Molecular-clinical spectrum of the ATR-X syndrome
-
GIBBONS, R. J., and D. R. HIGGS, 2000 Molecular-clinical spectrum of the ATR-X syndrome. Am. J. Med. Genet. 97: 204-212.
-
(2000)
Am. J. Med. Genet.
, vol.97
, pp. 204-212
-
-
Gibbons, R.J.1
Higgs, D.R.2
-
66
-
-
0028939603
-
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)
-
GIBBONS, R. J., D. J. PICKETTS, L. VILLARD and D. R. HIGGS, 1995 Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell 80: 837-845.
-
(1995)
Cell
, vol.80
, pp. 837-845
-
-
Gibbons, R.J.1
Picketts, D.J.2
Villard, L.3
Higgs, D.R.4
-
67
-
-
0034160047
-
Cell birth, cell death, cell diversity and DNA breaks: How do they all fit together?
-
GILMORE, E. C., R. S. NOWAKOWSKI, V. S. CAVINESS and K. HERRUP, 2000 Cell birth, cell death, cell diversity and DNA breaks: How do they all fit together? Trends Neurosci. 23: 100-105.
-
(2000)
Trends Neurosci.
, vol.23
, pp. 100-105
-
-
Gilmore, E.C.1
Nowakowski, R.S.2
Caviness, V.S.3
Herrup, K.4
-
68
-
-
0033594085
-
minifly, a Drosophila gene required for ribosome biogenesis
-
GIORDANO, E., I. PELUSO, S. SENGER and M. FURIA, 1999 minifly, a Drosophila gene required for ribosome biogenesis. J. Cell Biol. 144: 1123-1133.
-
(1999)
J. Cell Biol.
, vol.144
, pp. 1123-1133
-
-
Giordano, E.1
Peluso, I.2
Senger, S.3
Furia, M.4
-
69
-
-
0036500259
-
Nuclear lamins: Building blocks of nuclear architecture
-
GOLDMAN, R. D., Y. GRUENBAUM, R. D. MOIR, D. K. SHUMAKER and T. P. SPANN, 2002 Nuclear lamins: building blocks of nuclear architecture. Genes Dev. 16: 533-547.
-
(2002)
Genes Dev.
, vol.16
, pp. 533-547
-
-
Goldman, R.D.1
Gruenbaum, Y.2
Moir, R.D.3
Shumaker, D.K.4
Spann, T.P.5
-
70
-
-
0034730882
-
Conservation of components of the dystrophin complex in Drosophila
-
GREENER, M. J., and R. G. ROBERTS, 2000 Conservation of components of the dystrophin complex in Drosophila. FEBS Lett. 482: 13-18.
-
(2000)
FEBS Lett.
, vol.482
, pp. 13-18
-
-
Greener, M.J.1
Roberts, R.G.2
-
71
-
-
0036033616
-
Long-term consequences of congenital hypothyroidism in the era of screening programmes
-
GRUTERS, A., A. JENNER and H. KRUDE, 2002 Long-term consequences of congenital hypothyroidism in the era of screening programmes. Best Pract. Res. Clin. Endocrinol. Metab. 16: 369-382.
-
(2002)
Best Pract. Res. Clin. Endocrinol. Metab.
, vol.16
, pp. 369-382
-
-
Gruters, A.1
Jenner, A.2
Krude, H.3
-
72
-
-
0028905887
-
Serrate expression can functionally replace Delta activity during neuroblast segregation in the Drosophila embryo
-
GU, Y., N. A. HUKRIEDE and R. J. FLEMING, 1995 Serrate expression can functionally replace Delta activity during neuroblast segregation in the Drosophila embryo. Development 121: 855-865.
-
(1995)
Development
, vol.121
, pp. 855-865
-
-
Gu, Y.1
Hukriede, N.A.2
Fleming, R.J.3
-
73
-
-
0034708076
-
A neurofibromatosis-1-regulated pathway is required for learning in Drosophila
-
GUO, H. F., J. TONG, F. HANNAN, L. LUO and Y. ZHONG, 2000 A neurofibromatosis-1-regulated pathway is required for learning in Drosophila. Nature 403: 895-898.
-
(2000)
Nature
, vol.403
, pp. 895-898
-
-
Guo, H.F.1
Tong, J.2
Hannan, F.3
Luo, L.4
Zhong, Y.5
-
74
-
-
0031042085
-
Mutations in the Drosophila neuroglian cell adhesion molecule affect motor neuron pathfinding and peripheral nervous system patterning
-
HALL, S. G., and A. J. BIEBER, 1997 Mutations in the Drosophila neuroglian cell adhesion molecule affect motor neuron pathfinding and peripheral nervous system patterning. J. Neurobiol. 32: 325-340.
-
(1997)
J. Neurobiol.
, vol.32
, pp. 325-340
-
-
Hall, S.G.1
Bieber, A.J.2
-
75
-
-
0036270836
-
The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome
-
HAMMER, S., N. DORRANI, J, DRAGICH, S. KUDO and C. SCHANEN, 2002 The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome. Ment. Retard. Dev. Disabil. Res. Rev. 8: 94-98.
-
(2002)
Ment. Retard. Dev. Disabil. Res. Rev.
, vol.8
, pp. 94-98
-
-
Hammer, S.1
Dorrani, N.2
Dragich, J.3
Kudo, S.4
Schanen, C.5
-
76
-
-
0035998736
-
Online Mendelian Inheritance in Man (OMIM), a knowledge base of human genes and genetic disorders
-
HAMOSH, A., A. F. SCOTT, J. AMBERGER, C. BOCCHINI, D. VALLE et al., 2002 Online Mendelian Inheritance in Man (OMIM), a knowledge base of human genes and genetic disorders. Nucleic Acids Res. 30: 52-55.
-
(2002)
Nucleic Acids Res.
, vol.30
, pp. 52-55
-
-
Hamosh, A.1
Scott, A.F.2
Amberger, J.3
Bocchini, C.4
Valle, D.5
-
77
-
-
0036793859
-
Coffin-Lowry syndrome: Clinical and molecular features
-
HANAUER, A., and I. D. YOUNG, 2002 Coffin-Lowry syndrome: clinical and molecular features. J. Med. Genet. 39: 705-713.
-
(2002)
J. Med. Genet.
, vol.39
, pp. 705-713
-
-
Hanauer, A.1
Young, I.D.2
-
78
-
-
0033603254
-
Pak functions downstream of Dock to regulate photoreceptor axon guidance in Drosophila
-
HING, H., J. XIAO, N. HARDEN, L. LIM and S. L. ZIPURSKY, 1999 Pak functions downstream of Dock to regulate photoreceptor axon guidance in Drosophila. Cell 97: 853-863.
-
(1999)
Cell
, vol.97
, pp. 853-863
-
-
Hing, H.1
Xiao, J.2
Harden, N.3
Lim, L.4
Zipursky, S.L.5
-
79
-
-
0032189545
-
Genetic analysis on the role of integrin during axon guidance in Drosophila
-
HOANG, B., and A. CHIBA, 1998 Genetic analysis on the role of integrin during axon guidance in Drosophila. J. Neurosci. 18: 7847-7855.
-
(1998)
J. Neurosci.
, vol.18
, pp. 7847-7855
-
-
Hoang, B.1
Chiba, A.2
-
80
-
-
44949272730
-
A time-efficient, linear-space local similarity algorithm
-
HUANG, X., and W. MILLER, 1991 A time-efficient, linear-space local similarity algorithm. Adv. Appl. Math. 12: 337-357.
-
(1991)
Adv. Appl. Math
, vol.12
, pp. 337-357
-
-
Huang, X.1
Miller, W.2
-
81
-
-
0031736138
-
Signals transmitted along retinal axons in Drosophila: Hedgehog signal reception and the cell circuitry of lamina cartridge assembly
-
HUANG, Z., and S. KUNES, 1998 Signals transmitted along retinal axons in Drosophila: hedgehog signal reception and the cell circuitry of lamina cartridge assembly. Development 125: 3753-3764.
-
(1998)
Development
, vol.125
, pp. 3753-3764
-
-
Huang, Z.1
Kunes, S.2
-
83
-
-
0033835893
-
The neuropathology of phenylketonuria: Human and animal studies
-
HUTTENLOCHER, P. R., 2000 The neuropathology of phenylketonuria: human and animal studies. Eur. J. Pediatr. 159 (Suppl. 2): S102-S106.
-
(2000)
Eur. J. Pediatr.
, vol.159
, Issue.SUPPL. 2
-
-
Huttenlocher, P.R.1
-
84
-
-
0035577854
-
Hedgehog signaling in animal development: Paradigms and principles
-
INGHAM, P. W., and A. P. MCMAHON, 2001 Hedgehog signaling in animal development: paradigms and principles. Genes Dev. 15: 3059-3087.
-
(2001)
Genes Dev.
, vol.15
, pp. 3059-3087
-
-
Ingham, P.W.1
Mcmahon, A.P.2
-
85
-
-
0037031153
-
A role for the Drosophila fragile X-related gene in circadian output
-
INOUE, S. B., M. SHIMODA, I. NISHINOKUBI, M. C. SIOMI, M. OKAMURA et al., 2002 A role for the Drosophila fragile X-related gene in circadian output. Curr. Biol. 12: 1331-1335.
-
(2002)
Curr. Biol.
, vol.12
, pp. 1331-1335
-
-
Inoue, S.B.1
Shimoda, M.2
Nishinokubi, I.3
Siomi, M.C.4
Okamura, M.5
-
86
-
-
0033797832
-
Dendritic spine structural anomalies in fragile-X mental retardation syndrome
-
IRWIN, S. A., R. GALVEZ and W. T. GREENOUGH, 2000 Dendritic spine structural anomalies in fragile-X mental retardation syndrome. Cereb. Cortex 10: 1038-1044.
-
(2000)
Cereb. Cortex
, vol.10
, pp. 1038-1044
-
-
Irwin, S.A.1
Galvez, R.2
Greenough, W.T.3
-
87
-
-
0036791671
-
A Drosophila fragile X protein interacts with components of RNAi and ribosomal proteins
-
ISHIZUKA, A., M. C. SIOMI and H. SIOMI, 2002 A Drosophila fragile X protein interacts with components of RNAi and ribosomal proteins. Genes Dev. 16: 2497-2508.
-
(2002)
Genes Dev.
, vol.16
, pp. 2497-2508
-
-
Ishizuka, A.1
Siomi, M.C.2
Siomi, H.3
-
88
-
-
0032168160
-
Polyglutamine-expanded human huntingtin transgenes induce degeneration of Drosophila photoreceptor neurons
-
JACKSON, G. R., I. SALECKER, X. DONG, X. YAO, N. ARNHEIM et al., 1998 Polyglutamine-expanded human huntingtin transgenes induce degeneration of Drosophila photoreceptor neurons. Neuron 21: 633-642.
-
(1998)
Neuron
, vol.21
, pp. 633-642
-
-
Jackson, G.R.1
Salecker, I.2
Dong, X.3
Yao, X.4
Arnheim, N.5
-
89
-
-
0032848744
-
ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes
-
JACOBSEN, N. J. O., I. LYONS, B. HOOGENDOORN, S. BURGE, P.-Y. KWOK et al., 1999 ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. Hum. Mol. Genet. 8: 1631-1636.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1631-1636
-
-
Jacobsen, N.J.O.1
Lyons, I.2
Hoogendoorn, B.3
Burge, S.4
Kwok, P.-Y.5
-
90
-
-
85047697317
-
rsk2, RSK2, ISPK, MAPKAP1)
-
rsk2, RSK2, ISPK, MAPKAP1). Eur. J. Hum. Genet. 10: 2-5.
-
(2002)
Eur. J. Hum. Genet.
, vol.10
, pp. 2-5
-
-
Jacquot, S.1
Zeniou, M.2
Touraine, R.3
Hanauer, A.4
-
91
-
-
0037333288
-
New insights into fragile X syndrome: From molecules to neurobehaviors
-
JIN, P., and S. T. WARREN, 2003 New insights into fragile X syndrome: from molecules to neurobehaviors. Trends Biochem. Sci. 28: 152-158.
-
(2003)
Trends Biochem. Sci.
, vol.28
, pp. 152-158
-
-
Jin, P.1
Warren, S.T.2
-
92
-
-
0035986918
-
Alexander disease: A review and the gene
-
JOHNSON, A., 2002 Alexander disease: a review and the gene. Int. J. Dev. Neurosci. 20: 391-394.
-
(2002)
Int. J. Dev. Neurosci.
, vol.20
, pp. 391-394
-
-
Johnson, A.1
-
93
-
-
0030744231
-
A family of mammalian Fringe genes implicated in boundary determination and the Notch pathway
-
JOHNSTON, S. H., C. RAUSKOLB, R. WILSON, B. PRABHAKARAN, K. D. IRVINE et al., 1997 A family of mammalian Fringe genes implicated in boundary determination and the Notch pathway. Development 124: 2245-2254.
-
(1997)
Development
, vol.124
, pp. 2245-2254
-
-
Johnston, S.H.1
Rauskolb, C.2
Wilson, R.3
Prabhakaran, B.4
Irvine, K.D.5
-
94
-
-
0034795554
-
The expanding phenotype of laminin α2 chain (merosin) abnormalities: Case series and review
-
JONES, K. J., G. MORGAN, H. JOHNSTON, V. TOBIAS, R. A. OUVRIER et al., 2001 The expanding phenotype of laminin α2 chain (merosin) abnormalities: case series and review. J. Med. Genet. 38: 649-657.
-
(2001)
J. Med. Genet.
, vol.38
, pp. 649-657
-
-
Jones, K.J.1
Morgan, G.2
Johnston, H.3
Tobias, V.4
Ouvrier, R.A.5
-
96
-
-
0042703887
-
Metabolic disorders and mental retardation
-
KAHLER, S. G., and M. C. FAHEY, 2003 Metabolic disorders and mental retardation. Am. J. Med. Genet. 117C: 31-41.
-
(2003)
Am. J. Med. Genet.
, vol.117 C
, pp. 31-41
-
-
Kahler, S.G.1
Fahey, M.C.2
-
97
-
-
0035929273
-
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
-
KATSANIs, N., S. J. ANSLEY, J. L. BADANO, E. R. EICHERS, R. A. LEWIS et al., 2001 Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 293: 2256-2259.
-
(2001)
Science
, vol.293
, pp. 2256-2259
-
-
Katsanis, N.1
Ansley, S.J.2
Badano, J.L.3
Eichers, E.R.4
Lewis, R.A.5
-
98
-
-
0033797735
-
Dendritic anomalies in disorders associated with mental retardation
-
KAUFMANN, W. E., and H. W. MOSER, 2000 Dendritic anomalies in disorders associated with mental retardation. Cereb. Cortex 10: 981-991.
-
(2000)
Cereb. Cortex.
, vol.10
, pp. 981-991
-
-
Kaufmann, W.E.1
Moser, H.W.2
-
99
-
-
0035977140
-
RNA targets of the fragile X protein
-
KAYTOR, M. D., and H. T. ORR, 2001 RNA targets of the fragile X protein. Cell 107: 555-557.
-
(2001)
Cell
, vol.107
, pp. 555-557
-
-
Kaytor, M.D.1
Orr, H.T.2
-
100
-
-
18544379477
-
A bivalent Huntingtin binding peptide suppresses polyglutamine aggregation and pathogenesis in Drosophila
-
KAZANTSEV, A., H. A. WALKER, N. SLEPKO, J. E. BEAR, E. PREISINGER et al., 2002 A bivalent Huntingtin binding peptide suppresses polyglutamine aggregation and pathogenesis in Drosophila. Nat. Genet. 30: 367-376.
-
(2002)
Nat. Genet.
, vol.30
, pp. 367-376
-
-
Kazantsev, A.1
Walker, H.A.2
Slepko, N.3
Bear, J.E.4
Preisinger, E.5
-
101
-
-
0002047135
-
Disorders of mental development
-
edited by J. H. MENKES and H. B. SARNAT. Lippincott Williams & Wilkins, Philadelphia
-
KINSBOURNE, M., and W. D. GRAF, 2000 Disorders of mental development, pp. 1155-1211 in Child Neurology, edited by J. H. MENKES and H. B. SARNAT. Lippincott Williams & Wilkins, Philadelphia.
-
(2000)
Child Neurology
, pp. 1155-1211
-
-
Kinsbourne, M.1
Graf, W.D.2
-
102
-
-
0036844387
-
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
-
KITAMURA, K., M. YANAZAWA, N. SUGIYAMA, H. MIURA, A. IIZUKA-KOGO et al., 2002 Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat. Genet. 32: 359-369.
-
(2002)
Nat. Genet.
, vol.32
, pp. 359-369
-
-
Kitamura, K.1
Yanazawa, M.2
Sugiyama, N.3
Miura, H.4
Iizuka-Kogo, A.5
-
103
-
-
0026759727
-
Breathless, a Drosophila FGF receptor homolog, is essential for migration of tracheal and specific midline glial cells
-
KLAMBT, C., L. GLAZER and B. Z. SHILO, 1992 breathless, a Drosophila FGF receptor homolog, is essential for migration of tracheal and specific midline glial cells. Genes Dev. 6: 1668-1678.
-
(1992)
Genes Dev.
, vol.6
, pp. 1668-1678
-
-
Klambt, C.1
Glazer, L.2
Shilo, B.Z.3
-
105
-
-
0036093069
-
Perspective: Genetic defects in the etiology of congenital hypothyroidism
-
KOPP, P., 2002 Perspective: genetic defects in the etiology of congenital hypothyroidism. Endocrinology 143: 2019-2024.
-
(2002)
Endocrinology
, vol.143
, pp. 2019-2024
-
-
Kopp, P.1
-
106
-
-
0035831529
-
Physical and functional interaction between Zic and Gli proteins
-
KOYABU, Y., K. NAKATA, K. MIZUGISHI, J. ARUGA and K. MIKOSHIBA, 2001 Physical and functional interaction between Zic and Gli proteins. J. Biol. Chem. 276: 6889-6892.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 6889-6892
-
-
Koyabu, Y.1
Nakata, K.2
Mizugishi, K.3
Aruga, J.4
Mikoshiba, K.5
-
107
-
-
0032211135
-
The steroid hormone 20-hydroxyecdysone enhances neurite growth of Drosophila mushroom body neurons isolated during metamorphosis
-
KRAFT, R., R. B. LEVINE and L. L. RESTIVO, 1998 The steroid hormone 20-hydroxyecdysone enhances neurite growth of Drosophila mushroom body neurons isolated during metamorphosis. J. Neurosci. 18: 8886-8899.
-
(1998)
J. Neurosci.
, vol.18
, pp. 8886-8899
-
-
Kraft, R.1
Levine, R.B.2
Restivo, L.L.3
-
108
-
-
0031778069
-
Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families
-
KRANTZ, I. D., R. P. COLLITON, A. GENIN, E. B. RAND, L. LI et al., 1998 Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families. Am. J. Hum. Genet. 62: 1361-1369.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 1361-1369
-
-
Krantz, I.D.1
Colliton, R.P.2
Genin, A.3
Rand, E.B.4
Li, L.5
-
110
-
-
0033775672
-
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
-
KUTSCHE, K., H. YNTEMA, A. BRANDT, I. JANTKE, H. G. NOTHWANG et al., 2000 Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Nat. Genet. 26: 247-250.
-
(2000)
Nat. Genet.
, vol.26
, pp. 247-250
-
-
Kutsche, K.1
Yntema, H.2
Brandt, A.3
Jantke, I.4
Nothwang, H.G.5
-
111
-
-
0035864826
-
Evidence that fragile X mental retardation protein is a negative regulator of translation
-
LAGGERBAUER, B., D. OSTARECK, E.-M. KEIDEL, A. OSTARECK-LEDERER and U. FISCHER, 2001 Evidence that fragile X mental retardation protein is a negative regulator of translation. Hum. Mol. Genet. 10: 329-338.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 329-338
-
-
Laggerbauer, B.1
Ostareck, D.2
Keidel, E.-M.3
Ostareck-Lederer, A.4
Fischer, U.5
-
112
-
-
0036913192
-
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency
-
LAUMONNIER, F., N. RONCE, B. C. HAMEL, P. D. THOMAS, J. LESPINASSE et al., 2002 Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am. J. Hum. Genet. 71: 1450-1455.
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 1450-1455
-
-
Laumonnier, F.1
Ronce, N.2
Hamel, B.C.3
Thomas, P.D.4
Lespinasse, J.5
-
113
-
-
0036488079
-
Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene
-
LEBEL, R. R., M. MAY, S. POULS, H. A. LUBS, R. E. STEVENSON et al., 2002 Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. Clin. Genet. 61: 139-145.
-
(2002)
Clin. Genet.
, vol.61
, pp. 139-145
-
-
Lebel, R.R.1
May, M.2
Pouls, S.3
Lubs, H.A.4
Stevenson, R.E.5
-
114
-
-
0345308602
-
Control of dendritic development by the Drosophila fragile X-related gene involves the small GTPase Rac1
-
LEE, A., L. WENJUN, K. XU, B. A. BOGERT, K. SU et al, 2003 Control of dendritic development by the Drosophila fragile X-related gene involves the small GTPase Rac1. Development 130: 5543-5552.
-
(2003)
Development
, vol.130
, pp. 5543-5552
-
-
Lee, A.1
Wenjun, L.2
Xu, K.3
Bogert, B.A.4
Su, K.5
-
115
-
-
0035158760
-
Rab3a is involved in transport of synaptic vesicles to the active zone in mouse brain nerve terminals
-
LEENDERS, A. G., F. H. LOPES DA SILVA, W. E. GHIJSEN and M. VERHAGE, 2001 Rab3a is involved in transport of synaptic vesicles to the active zone in mouse brain nerve terminals. Mol. Biol. Cell 12: 3095-3102.
-
(2001)
Mol. Biol. Cell
, vol.12
, pp. 3095-3102
-
-
Leenders, A.G.1
Lopes Da Silva, F.H.2
Ghijsen, W.E.3
Verhage, M.4
-
116
-
-
0015336653
-
Theory of X-linkage of major intellectual traits
-
LEHRKE, R., 1972 Theory of X-linkage of major intellectual traits. Am. J. Ment. Defic. 76: 611-619.
-
(1972)
Am. J. Ment. Defic.
, vol.76
, pp. 611-619
-
-
Lehrke, R.1
-
117
-
-
0036948248
-
The epidemiology of mental retardation: Challenges and opportunities in the new millennium
-
LEONARD, H., and X. WEN, 2002 The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment. Retard. Dev. Disabil. Res. Rev. 8: 117-134.
-
(2002)
Ment. Retard. Dev. Disabil. Res. Rev.
, vol.8
, pp. 117-134
-
-
Leonard, H.1
Wen, X.2
-
118
-
-
0031859828
-
Equivalence of the fly orthodenticle gene and the human OTX genes in embryonic brain development of Drosophila
-
LEUZINGER, S., F. HIRTH, D. GERLICH, D. ACAMPORA, A. SIMEONE et al., 1998 Equivalence of the fly orthodenticle gene and the human OTX genes in embryonic brain development of Drosophila. Development 125: 1703-1710.
-
(1998)
Development
, vol.125
, pp. 1703-1710
-
-
Leuzinger, S.1
Hirth, F.2
Gerlich, D.3
Acampora, D.4
Simeone, A.5
-
119
-
-
0033514946
-
Phenylketonuria: Old disease, new approach to treatment
-
LEVY, H. L., 1999 Phenylketonuria: old disease, new approach to treatment. Proc. Natl. Acad. Sci. USA 96: 1811-1813.
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 1811-1813
-
-
Levy, H.L.1
-
120
-
-
0037215682
-
PTEN regulation of neural development and CNS stem cells
-
LI, L., F. LIU and A. H. ROSS, 2003 PTEN regulation of neural development and CNS stem cells. J. Cell. Biochem. 88: 24-28.
-
(2003)
J. Cell. Biochem.
, vol.88
, pp. 24-28
-
-
Li, L.1
Liu, F.2
Ross, A.H.3
-
121
-
-
0032824776
-
Filamin is required for ring canal assembly and actin organization during Drosophila oogenesis
-
LI, M., M. SERR, K. EDWARDS, S. LUDMANN, D. YAMAMOTO et al., 1999 Filamin is required for ring canal assembly and actin organization during Drosophila oogenesis. J. Cell Biol. 146: 1061-1073.
-
(1999)
J. Cell Biol.
, vol.146
, pp. 1061-1073
-
-
Li, M.1
Serr, M.2
Edwards, K.3
Ludmann, S.4
Yamamoto, D.5
-
122
-
-
0035425730
-
GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome
-
LI, M., C. SHUMAN, Y. L. FEI, E. CUTIONGCO, H. A. BENDER et al., 2001 GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. Am. J. Med. Genet. 102: 161-168.
-
(2001)
Am. J. Med. Genet.
, vol.102
, pp. 161-168
-
-
Li, M.1
Shuman, C.2
Fei, Y.L.3
Cutiongco, E.4
Bender, H.A.5
-
123
-
-
0032839535
-
Human phenylalanine hydroxylase gene expression in kidney and other nonhepatic tissues
-
LICHTER-KONECKI, U., C. M. HIPKE and D. S. KONECKI, 1999 Human phenylalanine hydroxylase gene expression in kidney and other nonhepatic tissues. Mol. Genet. Metab. 67: 308-316.
-
(1999)
Mol. Genet. Metab.
, vol.67
, pp. 308-316
-
-
Lichter-Konecki, U.1
Hipke, C.M.2
Konecki, D.S.3
-
124
-
-
0032072943
-
Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients
-
LIN, T., B. M. ORRISON, S. F. SUCHY, R. A. LEWIS and R. L. NUSSBAUM, 1998 Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients. Mol. Genet. Metab. 64: 58-61.
-
(1998)
Mol. Genet. Metab.
, vol.64
, pp. 58-61
-
-
Lin, T.1
Orrison, B.M.2
Suchy, S.F.3
Lewis, R.A.4
Nussbaum, R.L.5
-
125
-
-
0033778276
-
Drosophila Lis1 is required for neuroblast proliferation, dendritic elaboration and axonal transport
-
LIU, Z., R. STEWARD and L. LUO, 2000 Drosophila Lis1 is required for neuroblast proliferation, dendritic elaboration and axonal transport. Nat. Cell Biol. 2: 776-783.
-
(2000)
Nat. Cell Biol.
, vol.2
, pp. 776-783
-
-
Liu, Z.1
Steward, R.2
Luo, L.3
-
126
-
-
0033679290
-
A genome-wide search for synaptic vesicle cycle proteins in Drosophila
-
LLOYD, T. E., P. VERSTREKEN, E. J. OSTRIN, A. PHILLIPPI, O. LICHTARGE et al., 2000 A genome-wide search for synaptic vesicle cycle proteins in Drosophila. Neuron 26: 45-50.
-
(2000)
Neuron
, vol.26
, pp. 45-50
-
-
Lloyd, T.E.1
Verstreken, P.2
Ostrin, E.J.3
Phillippi, A.4
Lichtarge, O.5
-
127
-
-
0031662360
-
A review of behavioral and pharmacological treatments for habit disorders in individuals with mental retardation
-
LONG, E. S., and R. G. MILTENBERGER, 1998 A review of behavioral and pharmacological treatments for habit disorders in individuals with mental retardation. J. Behav. Ther. Exp. Psychiatry 29: 143-156.
-
(1998)
J. Behav. Ther. Exp. Psychiatry
, vol.29
, pp. 143-156
-
-
Long, E.S.1
Miltenberger, R.G.2
-
128
-
-
0032999012
-
The other side of the coin: A hypothesis concerning the importance of genes for high intelligence and evolution on the X chromosome
-
LUBS, H. A., 1999 The other side of the coin: a hypothesis concerning the importance of genes for high intelligence and evolution on the X chromosome. Am. J. Med. Genet. 85: 206-208.
-
(1999)
Am. J. Med. Genet.
, vol.85
, pp. 206-208
-
-
Lubs, H.A.1
-
129
-
-
0003430233
-
-
American Association on Mental Retardation, Washington, DC
-
LUCKASSON, R., D. L. COULTER, E. A. POLLOWAY, S. REISS, R. L. 8CHALOCK et al., 1992 Mental Retardation: Definition, Classification, and Systems of Support. American Association on Mental Retardation, Washington, DC.
-
(1992)
Mental Retardation: Definition, Classification, and Systems of Support
-
-
Luckasson, R.1
Coulter, D.L.2
Polloway, E.A.3
Reiss, S.4
Schalock, R.L.5
-
130
-
-
0036325026
-
A link between maze learning and hippocampal expression of neuroleukin and its receptor gp78
-
LUO, Y., J. M. LONG, C. LU, S. L. CHAN, E. L. SPANGLER et al., 2002 A link between maze learning and hippocampal expression of neuroleukin and its receptor gp78. J. Neurochem. 80: 354-361.
-
(2002)
J. Neurochem.
, vol.80
, pp. 354-361
-
-
Luo, Y.1
Long, J.M.2
Lu, C.3
Chan, S.L.4
Spangler, E.L.5
-
132
-
-
0037166237
-
Dimerization and release of molecular chaperone inhibition facilitate activation of eukaryotic initiation factor-2 kinase in response to endoplasmic reticulum stress
-
MA, K., K. M. VATTEM and R. C. WEK, 2002 Dimerization and release of molecular chaperone inhibition facilitate activation of eukaryotic initiation factor-2 kinase in response to endoplasmic reticulum stress. J. Biol. Chem. 277: 18728-18735.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 18728-18735
-
-
Ma, K.1
Vattem, K.M.2
Wek, R.C.3
-
133
-
-
0032213566
-
Identification of an essential gene encoding a class-V unconventional myosin in Drosophila melanogaster
-
MACIVER, B., A. MCCORMACK, R. SLEE and M. BOWNES, 1998 Identification of an essential gene encoding a class-V unconventional myosin in Drosophila melanogaster. Eur. J. Biochem. 257: 529-537.
-
(1998)
Eur. J. Biochem.
, vol.257
, pp. 529-537
-
-
Maciver, B.1
Mccormack, A.2
Slee, R.3
Bownes, M.4
-
134
-
-
0019852177
-
Enhanced graphic matrix analysis of nucleic acid and protein sequences
-
MAIZEL, J. V., JR., and R. P. LENK, 1981 Enhanced graphic matrix analysis of nucleic acid and protein sequences. Proc. Natl. Acad. Sci. USA 78: 7665-7669.
-
(1981)
Proc. Natl. Acad. Sci. USA
, vol.78
, pp. 7665-7669
-
-
Maizel Jr., J.V.1
Lenk, R.P.2
-
135
-
-
0033711562
-
A genetic analysis of synaptic development: Pre- and post-synaptic dCBP control transmitter release at the Drosophila NMJ
-
MAREK, K. W., N. NG, R. FETTER, S. SMOLIK, C. S. GOODMAN et al., 2000 A genetic analysis of synaptic development: pre- and post-synaptic dCBP control transmitter release at the Drosophila NMJ. Neuron 25: 537-547.
-
(2000)
Neuron
, vol.25
, pp. 537-547
-
-
Marek, K.W.1
Ng, N.2
Fetter, R.3
Smolik, S.4
Goodman, C.S.5
-
136
-
-
6844252284
-
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation
-
MARSH, D. J., V. COULON, K. L. LUNETTA, P. ROCCA-SERRA, P. L. DAHIA et al., 1998 Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum. Mol. Genet. 7: 507-515.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 507-515
-
-
Marsh, D.J.1
Coulon, V.2
Lunetta, K.L.3
Rocca-Serra, P.4
Dahia, P.L.5
-
137
-
-
0033526047
-
Wing blister, a new Drosophila laminin alpha chain required for cell adhesion and migration during embryonic and imaginal development
-
MARTIN, D., S. ZUSMAN, X. LI, E. L. WILLIAMS, N. KHARE et al., 1999 wing blister, a new Drosophila laminin alpha chain required for cell adhesion and migration during embryonic and imaginal development. J. Cell Biol. 145: 191-201.
-
(1999)
J. Cell Biol.
, vol.145
, pp. 191-201
-
-
Martin, D.1
Zusman, S.2
Li, X.3
Williams, E.L.4
Khare, N.5
-
138
-
-
0036842251
-
A missense mutation in Tbce causes progressive motor neuropathy in mice
-
MARTIN, N., J. JAUBERT, P. GOUNON, E. SALIDO, G. HAASE et al., 2002 A missense mutation in Tbce causes progressive motor neuropathy in mice. Nat. Genet. 32: 443-447.
-
(2002)
Nat. Genet.
, vol.32
, pp. 443-447
-
-
Martin, N.1
Jaubert, J.2
Gounon, P.3
Salido, E.4
Haase, G.5
-
139
-
-
0037364417
-
Folate and homocysteine metabolism in neural plasticity and neurodegenerative disorders
-
MATTSON, M. P., and T. B. SHEA, 2003 Folate and homocysteine metabolism in neural plasticity and neurodegenerative disorders. Trends Neurosci. 26: 137-146.
-
(2003)
Trends Neurosci.
, vol.26
, pp. 137-146
-
-
Mattson, M.P.1
Shea, T.B.2
-
140
-
-
0037112805
-
Trapping of messenger RNA by fragile X mental retardation protein into cytoplasmic granules induces translational repression
-
MAZROUI, R., M. E. HUOT, S. TREMBLAY, C. FILION, Y. LABELLE et al., 2002 Trapping of messenger RNA by fragile X mental retardation protein into cytoplasmic granules induces translational repression. Hum. Mol. Genet. 11: 3007-3017.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 3007-3017
-
-
Mazroui, R.1
Huot, M.E.2
Tremblay, S.3
Filion, C.4
Labelle, Y.5
-
141
-
-
0023640087
-
Review of recent epidemiological studies of mental retardation: Prevalence, associated disorders and etiology
-
MCLAREN, J., and S. E. BRYSON, 1987 Review of recent epidemiological studies of mental retardation: prevalence, associated disorders and etiology. Am. J. Ment. Retard. 92: 243-254.
-
(1987)
Am. J. Ment. Retard
, vol.92
, pp. 243-254
-
-
Mclaren, J.1
Bryson, S.E.2
-
142
-
-
0032910443
-
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation
-
MERIENNE, K., S. JACQUOT, S. PANNETIER, M. ZENIOU, A. BANKIER et al., 1999 A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Nat. Genet. 22: 13-14.
-
(1999)
Nat. Genet.
, vol.22
, pp. 13-14
-
-
Merienne, K.1
Jacquot, S.2
Pannetier, S.3
Zeniou, M.4
Bankier, A.5
-
143
-
-
0031816611
-
Human developmental disorders and the Sonic hedgehog pathway
-
MING, J. E., E. ROESSLER and M. MUENKE, 1998 Human developmental disorders and the Sonic hedgehog pathway. Mol. Med. Today 4: 343-349.
-
(1998)
Mol. Med. Today
, vol.4
, pp. 343-349
-
-
Ming, J.E.1
Roessler, E.2
Muenke, M.3
-
144
-
-
0034778130
-
Neuropathology of tuberous sclerosis
-
MIZUGUCHI, M., and S. TAKASHIMA, 2001 Neuropathology of tuberous sclerosis. Brain Dev. 23: 508-515.
-
(2001)
Brain Dev.
, vol.23
, pp. 508-515
-
-
Mizuguchi, M.1
Takashima, S.2
-
145
-
-
18744371004
-
Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation
-
MOLINARI, F., M. RIO, V. MESKENAITE, F. ENCHA-RAZAVI, J. AUGE et al., 2002 Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. Science 298: 1779-1781.
-
(2002)
Science
, vol.298
, pp. 1779-1781
-
-
Molinari, F.1
Rio, M.2
Meskenaite, V.3
Encha-Razavi, F.4
Auge, J.5
-
146
-
-
0037071888
-
Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain
-
MORALES, J., P. R. HIESINGER, A. J. SCHROEDER, K. KUME, P. VERSTREKEN et al., 2002 Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain. Neuron 34: 961-972.
-
(2002)
Neuron
, vol.34
, pp. 961-972
-
-
Morales, J.1
Hiesinger, P.R.2
Schroeder, A.J.3
Kume, K.4
Verstreken, P.5
-
147
-
-
0035703853
-
The genetics of cognitive processes: Candidate genes in humans and animals
-
MORLEY, K. I., and G. W. MONTGOMERY, 2001 The genetics of cognitive processes: candidate genes in humans and animals. Behav. Genet. 31: 511-531.
-
(2001)
Behav. Genet.
, vol.31
, pp. 511-531
-
-
Morley, K.I.1
Montgomery, G.W.2
-
148
-
-
0026569472
-
Genes for intelligence on the X chromosome
-
MORTON, N. E., 1992 Genes for intelligence on the X chromosome. J. Med. Genet. 29: 71.
-
(1992)
J. Med. Genet.
, vol.29
, pp. 71
-
-
Morton, N.E.1
-
149
-
-
0037300995
-
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome
-
MUSANTE, L., H. G. KEHL, F. MAJEWSKI, P. MEINECKE, S. SCHWEIGER et al., 2003 Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. Eur. J. Hum. Genet. 11: 201-206.
-
(2003)
Eur. J. Hum. Genet.
, vol.11
, pp. 201-206
-
-
Musante, L.1
Kehl, H.G.2
Majewski, F.3
Meinecke, P.4
Schweiger, S.5
-
150
-
-
0034652275
-
Zic2 regulates the kinetics of neurulation
-
NAGAI, T., J. ARUGA, O. MINOWA, T. SUGIMOTO, Y. OHNO et al., 2000 Zic2 regulates the kinetics of neurulation. Proc. Natl. Acad. Sci. USA 97: 1618-1623.
-
(2000)
Proc. Natl. Acad. Sci. USA
, vol.97
, pp. 1618-1623
-
-
Nagai, T.1
Aruga, J.2
Minowa, O.3
Sugimoto, T.4
Ohno, Y.5
-
151
-
-
0032584150
-
Developmental rescue of Drosophila cephalic defects by the human Otx genes
-
NAGAO, T., S. LEUZINGER, D. ACAMPORA, A. SIMEONE, R. FINKELSTEIN et al., 1998 Developmental rescue of Drosophila cephalic defects by the human Otx genes. Proc. Natl. Acad. Sci. USA 95: 3737-3742.
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 3737-3742
-
-
Nagao, T.1
Leuzinger, S.2
Acampora, D.3
Simeone, A.4
Finkelstein, R.5
-
152
-
-
0028880557
-
The division abnormally delayed (dally) gene: A putative integral membrane proteoglycan required for cell division patterning during postembryonic development of the nervous system in Drosophila
-
NAKATO, H., T. A. FUTCH and S. B. SELLECK, 1995 The division abnormally delayed (dally) gene: a putative integral membrane proteoglycan required for cell division patterning during postembryonic development of the nervous system in Drosophila. Development 121: 3687-3702.
-
(1995)
Development
, vol.121
, pp. 3687-3702
-
-
Nakato, H.1
Futch, T.A.2
Selleck, S.B.3
-
153
-
-
0035989405
-
An analysis using the hobo genetic system reveals that combinatorial signaling by the Dpp and Wg pathways regulates dpp expression in leading edge cells of the dorsal ectoderm in Drosophila melanogaster
-
NEWFELD, S. J., and N. T. TAKAESU, 2002 An analysis using the hobo genetic system reveals that combinatorial signaling by the Dpp and Wg pathways regulates dpp expression in leading edge cells of the dorsal ectoderm in Drosophila melanogaster. Genetics 161: 685-692.
-
(2002)
Genetics
, vol.161
, pp. 685-692
-
-
Newfeld, S.J.1
Takaesu, N.T.2
-
154
-
-
0344678385
-
Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly
-
ODENT, S., T. ATTIE-BITACH, M. BLAYAU, M. MATHIEU, J. AUGE et al., 1999 Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. Hum. Mol. Genet. 8: 1683-1689.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1683-1689
-
-
Odent, S.1
Attie-Bitach, T.2
Blayau, M.3
Mathieu, M.4
Auge, J.5
-
155
-
-
0036713481
-
The Drosophila insulin/IGF receptor controls growth and size by modulating PtdInsP(3) levels
-
OLDHAM, S., H. STOCKER, M. LAFFARGUE, F. WITTWER, M. WYMANN et al., 2002 The Drosophila insulin/IGF receptor controls growth and size by modulating PtdInsP(3) levels. Development 129: 4103-4109.
-
(2002)
Development
, vol.129
, pp. 4103-4109
-
-
Oldham, S.1
Stocker, H.2
Laffargue, M.3
Wittwer, F.4
Wymann, M.5
-
156
-
-
0036591672
-
Smooth, rough and upside-down neocortical development
-
OLSON, E. C., and C. A. WALSH, 2002 Smooth, rough and upside-down neocortical development. Curr. Opin. Genet. Dev. 12: 320-327.
-
(2002)
Curr. Opin. Genet. Dev.
, vol.12
, pp. 320-327
-
-
Olson, E.C.1
Walsh, C.A.2
-
157
-
-
18244432131
-
MECP2 mutation in male patients with non-specific X-linked mental retardation
-
ORRICO, A., C. LAM, L. GALLI, M. T. DOTTI, G. HAYEK et al., 2000 MECP2 mutation in male patients with non-specific X-linked mental retardation. FEBS Lett. 481: 285-288.
-
(2000)
FEBS Lett.
, vol.481
, pp. 285-288
-
-
Orrico, A.1
Lam, C.2
Galli, L.3
Dotti, M.T.4
Hayek, G.5
-
158
-
-
0036745666
-
Evidence for differential and redundant function of the Sox genes Dichaete and SoxN during CNS development in Drosophila
-
OVERTON, P. M., L. A. MEADOWS, J. URBAN and S. RUSSELL, 2002 Evidence for differential and redundant function of the Sox genes Dichaete and SoxN during CNS development in Drosophila. Development 129: 4219-4228.
-
(2002)
Development
, vol.129
, pp. 4219-4228
-
-
Overton, P.M.1
Meadows, L.A.2
Urban, J.3
Russell, S.4
-
159
-
-
0027403003
-
Human BMP sequences can confer normal dorsal-ventral patterning in the Drosophila embryo
-
PADGETT, R. W., J. M. WOZNEY and W. M. GELBART, 1993 Human BMP sequences can confer normal dorsal-ventral patterning in the Drosophila embryo. Proc. Natl. Acad. Sci. USA 90: 2905-2909.
-
(1993)
Proc. Natl. Acad. Sci. USA
, vol.90
, pp. 2905-2909
-
-
Padgett, R.W.1
Wozney, J.M.2
Gelbart, W.M.3
-
160
-
-
0036843239
-
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome
-
PARVARI, R., E. HERSHKOVITZ, N. GROSSMAN, R. GORODISCHER, B. LOEYS et al., 2002 Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat. Genet. 32: 448-452.
-
(2002)
Nat. Genet.
, vol.32
, pp. 448-452
-
-
Parvari, R.1
Hershkovitz, E.2
Grossman, N.3
Gorodischer, R.4
Loeys, B.5
-
161
-
-
0033773030
-
A new mutation in the six-domain of SIX3 gene causes holoprosencephaly
-
PASQUIER, L., C. DUBOURG, M. BLAYAU, L. LAZARO, B. LE MAREC et al., 2000 A new mutation in the six-domain of SIX3 gene causes holoprosencephaly. Eur. J. Hum. Genet. 8: 797-800.
-
(2000)
Eur. J. Hum. Genet.
, vol.8
, pp. 797-800
-
-
Pasquier, L.1
Dubourg, C.2
Blayau, M.3
Lazaro, L.4
Le Marec, B.5
-
162
-
-
0032774475
-
Clinical spectrum of fibroblast growth factor receptor mutations
-
PASSOS-BUENO, M. R., W. R. WILCOX, E. W. JABS, A. L. SERTIE, L. G. ALONSO et al., 1999 Clinical spectrum of fibroblast growth factor receptor mutations. Hum. Mutat. 14: 115-125.
-
(1999)
Hum. Mutat.
, vol.14
, pp. 115-125
-
-
Passos-Bueno, M.R.1
Wilcox, W.R.2
Jabs, E.W.3
Sertie, A.L.4
Alonso, L.G.5
-
163
-
-
0037384485
-
Cation-chloride co-transporters in neuronal communication, development and trauma
-
PAYNE, J. A., C. RIVERA, J. VOIPIO and K. KAILA, 2003 Cation-chloride co-transporters in neuronal communication, development and trauma. Trends Neurosci. 26: 199-206.
-
(2003)
Trends Neurosci.
, vol.26
, pp. 199-206
-
-
Payne, J.A.1
Rivera, C.2
Voipio, J.3
Kaila, K.4
-
164
-
-
0036080951
-
Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology
-
PEGORARO, E., F. CEPOLLARO, P. PRANDINI, A. MARIN, M. FANIN et al., 2002 Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology. Am. J. Pathol. 160: 2135-2143.
-
(2002)
Am. J. Pathol.
, vol.160
, pp. 2135-2143
-
-
Pegoraro, E.1
Cepollaro, F.2
Prandini, P.3
Marin, A.4
Fanin, M.5
-
165
-
-
0033230399
-
2+-ATPase function is required for intracellular trafficking of the Notch receptor in Drosophila
-
2+-ATPase function is required for intracellular trafficking of the Notch receptor in Drosophila. EMBO J. 18: 5983-5993.
-
(1999)
EMBO J.
, vol.18
, pp. 5983-5993
-
-
Periz, G.1
Fortini, M.E.2
-
166
-
-
0030601974
-
The nonreceptor protein tyrosine phosphatase corkscrew functions in multiple receptor tyrosine kinase pathways in Drosophila
-
PERKINS, L. A., M. R. JOHNSON, M. B. MELNICK and N. PERRIMON, 1996 The nonreceptor protein tyrosine phosphatase corkscrew functions in multiple receptor tyrosine kinase pathways in Drosophila. Dev. Biol. 180: 63-81.
-
(1996)
Dev. Biol.
, vol.180
, pp. 63-81
-
-
Perkins, L.A.1
Johnson, M.R.2
Melnick, M.B.3
Perrimon, N.4
-
167
-
-
0033136265
-
latheo encodes a subunit of the origin recognition complex and disrupts neuronal proliferation and adult olfactory memory when mutant
-
PINTO, S., D. G. QUINTANA, P. SMITH, R. M. MIHALEK, Z. H. HOU et al., 1999 latheo encodes a subunit of the origin recognition complex and disrupts neuronal proliferation and adult olfactory memory when mutant. Neuron 23: 45-54.
-
(1999)
Neuron
, vol.23
, pp. 45-54
-
-
Pinto, S.1
Quintana, D.G.2
Smith, P.3
Mihalek, R.M.4
Hou, Z.H.5
-
169
-
-
0036543312
-
Rho proteins, mental retardation and the cellular basis of cognition
-
RAMAKERS, G. J., 2002 Rho proteins, mental retardation and the cellular basis of cognition. Trends Neurosci. 25: 191-199.
-
(2002)
Trends Neurosci.
, vol.25
, pp. 191-199
-
-
Ramakers, G.J.1
-
170
-
-
0035166780
-
A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency
-
REISS, J., S. GROSS-HARDT, E. CHRISTENSEN, P. SCHMIDT, R. R. MENDEL et al., 2001 A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. Am. J. Hum. Genet. 68: 208-213.
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 208-213
-
-
Reiss, J.1
Gross-Hardt, S.2
Christensen, E.3
Schmidt, P.4
Mendel, R.R.5
-
171
-
-
0034837386
-
A systematic analysis of human disease-associated gene sequences in Drosophila melanogaster
-
REITER, L. T., L. POTOCKI, S. CHIEN, M. GRIBSKOV and E. BIER, 2001 A systematic analysis of human disease-associated gene sequences in Drosophila melanogaster. Genome Res. 11: 1114-1125.
-
(2001)
Genome Res.
, vol.11
, pp. 1114-1125
-
-
Reiter, L.T.1
Potocki, L.2
Chien, S.3
Gribskov, M.4
Bier, E.5
-
172
-
-
0034811408
-
Drosophila rab GDI mutants disrupt development but have normal rab membrane extraction
-
RICARD, C. S., J. M. JAKUBOWSKI, J. W. VERBSKY, M. A. BARBIERI, W. M. LEWIS et al., 2001 Drosophila rab GDI mutants disrupt development but have normal rab membrane extraction. Genesis 31: 17-29.
-
(2001)
Genesis
, vol.31
, pp. 17-29
-
-
Ricard, C.S.1
Jakubowski, J.M.2
Verbsky, J.W.3
Barbieri, M.A.4
Lewis, W.M.5
-
173
-
-
8044233695
-
The prevalence of mental retardation: A critical review of recent literature
-
ROELEVELD, N., G. A. ZIELHUIS and F. GABREELS, 1997 The prevalence of mental retardation: a critical review of recent literature. Dev. Med. Child Neurol. 39: 125-132.
-
(1997)
Dev. Med. Child Neurol.
, vol.39
, pp. 125-132
-
-
Roeleveld, N.1
Zielhuis, G.A.2
Gabreels, F.3
-
174
-
-
0037866676
-
Nonsyndromic X-linked mental retardation: Where are the missing mutations?
-
ROPERS, H.-H., M. HOELTZENBEIN, V. KALSCHEUER, H. YNTEMA, B. HAMEL et al., 2003 Nonsyndromic X-linked mental retardation: Where are the missing mutations? Trends Genet. 19: 316-320.
-
(2003)
Trends Genet.
, vol.19
, pp. 316-320
-
-
Ropers, H.-H.1
Hoeltzenbein, M.2
Kalscheuer, V.3
Yntema, H.4
Hamel, B.5
-
175
-
-
0037052544
-
Ablation of insulin-producing neurons in flies: Growth and diabetic phenotypes
-
RULIFSON, E. J., S. K. KIM and R. NUSSE, 2002 Ablation of insulin-producing neurons in flies: growth and diabetic phenotypes. Science 296: 1118-1120.
-
(2002)
Science
, vol.296
, pp. 1118-1120
-
-
Rulifson, E.J.1
Kim, S.K.2
Nusse, R.3
-
176
-
-
0033941102
-
Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia
-
SACKSTEDER, K. A., B. J. BIERY, J. C. MORRELL, B. K. GOODMAN, B. V. GEISBRECHT et al., 2000 Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. Am. J. Hum. Genet. 66: 1736-1743.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1736-1743
-
-
Sacksteder, K.A.1
Biery, B.J.2
Morrell, J.C.3
Goodman, B.K.4
Geisbrecht, B.V.5
-
177
-
-
0033879511
-
An allelic variant of Griscelli disease: Presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder)
-
SANAL, O., L. YEL, T. KUCUKALI, E. GILBERT-BARNES, M. TARDIEU et al., 2000 An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder). J. Neurol. 247: 570-572.
-
(2000)
J. Neurol.
, vol.247
, pp. 570-572
-
-
Sanal, O.1
Yel, L.2
Kucukali, T.3
Gilbert-Barnes, E.4
Tardieu, M.5
-
178
-
-
0034023675
-
The Drosophila homeobox gene optixis capable of inducing ectopic eyes by an eyeless-independent mechanism
-
SEIMIYA, M., and W. J. GEHRING, 2000 The Drosophila homeobox gene optixis capable of inducing ectopic eyes by an eyeless-independent mechanism. Development 127: 1879-1886.
-
(2000)
Development
, vol.127
, pp. 1879-1886
-
-
Seimiya, M.1
Gehring, W.J.2
-
179
-
-
85031467559
-
Mitochondrial encephalomyopathies: Gene mutation
-
SERVIDEI, S., 2001 Mitochondrial encephalomyopathies: gene mutation. Neuromuscul. Disord. 11: 332-337.
-
(2001)
Neuromuscul. Disord.
, vol.11
, pp. 332-337
-
-
Servidei, S.1
-
180
-
-
0032585812
-
The Down syndrome critical region
-
SHAPIRO, B. L., 1999 The Down syndrome critical region. J. Neural. Transm. 57 (Suppl.): 41-60.
-
(1999)
J. Neural. Transm.
, vol.57
, Issue.SUPPL.
, pp. 41-60
-
-
Shapiro, B.L.1
-
181
-
-
0030871330
-
Requirements of DFR1/Heartless, a mesoderm-specific Drosophila FGF-receptor, for the formation of heart, visceral and somatic muscles, and ensheathing of longitudinal axon tracts in CNS
-
SHISHIDO, E., N. ONO, T. KOJIMA and K. SAIGO, 1997 Requirements of DFR1/Heartless, a mesoderm-specific Drosophila FGF-receptor, for the formation of heart, visceral and somatic muscles, and ensheathing of longitudinal axon tracts in CNS. Development 124: 2119-2128.
-
(1997)
Development
, vol.124
, pp. 2119-2128
-
-
Shishido, E.1
Ono, N.2
Kojima, T.3
Saigo, K.4
-
183
-
-
0001665187
-
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
-
STROMME, P., M. E. MANGELSDORF, M. A. SHAW, K. M. LOWER, S. M. LEWIS et al., 2002 Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat. Genet. 30: 441-445.
-
(2002)
Nat. Genet.
, vol.30
, pp. 441-445
-
-
Stromme, P.1
Mangelsdorf, M.E.2
Shaw, M.A.3
Lower, K.M.4
Lewis, S.M.5
-
184
-
-
0033827010
-
The neurochemistry of phenylketonuria
-
SURTEES, R., and N. BLAU, 2000 The neurochemistry of phenylketonuria. Eur. J. Pediatr. 159 (Suppl. 2): S109-S113.
-
(2000)
Eur. J. Pediatr.
, vol.159
, Issue.SUPPL. 2
-
-
Surtees, R.1
Blau, N.2
-
185
-
-
85047677416
-
The dilute-lethal (dl) gene attacks a Ca2+ store in the dendritic spine of Purkinje cells in mice
-
TAKAGISHI, Y., S. ODA, S. HAYASAKA, K. DEKKER-OHNO, T. SHIKATA et al., 1996 The dilute-lethal (dl) gene attacks a Ca2+ store in the dendritic spine of Purkinje cells in mice. Neurosci. Lett. 215: 169-172.
-
(1996)
Neurosci. Lett.
, vol.215
, pp. 169-172
-
-
Takagishi, Y.1
Oda, S.2
Hayasaka, S.3
Dekker-Ohno, K.4
Shikata, T.5
-
186
-
-
0035805180
-
The Drosophila tuberous sclerosis complex gene homologs restrict cell growth and cell proliferation
-
TAPON, N., N. ITO, B. J. DICKSON, J. E. TREISMAN and I. K. HARIHARAN, 2001 The Drosophila tuberous sclerosis complex gene homologs restrict cell growth and cell proliferation. Cell 105: 345-355.
-
(2001)
Cell
, vol.105
, pp. 345-355
-
-
Tapon, N.1
Ito, N.2
Dickson, B.J.3
Treisman, J.E.4
Hariharan, I.K.5
-
187
-
-
0033802989
-
Thyroid hormone action in neural development
-
THOMPSON, C. C., and G. B. POTTER, 2000 Thyroid hormone action in neural development. Cereb. Cortex 10: 939-945.
-
(2000)
Cereb. Cortex
, vol.10
, pp. 939-945
-
-
Thompson, C.C.1
Potter, G.B.2
-
188
-
-
0034527334
-
In search of the MRX genes
-
TONIOL0, D., 2000 In search of the MRX genes. Am. J. Med. Genet. 97: 221-227.
-
(2000)
Am. J. Med. Genet.
, vol.97
, pp. 221-227
-
-
Toniolo, D.1
-
189
-
-
0035282744
-
The mouse slalom mutant demonstrates a role for Jagged1 in neuroepithelial patterning in the organ of Corti
-
TSAI, H., R. E. HARDISTY, C. RHODES, A. E. KIERNAN, P. ROBY et al., 2001 The mouse slalom mutant demonstrates a role for Jagged1 in neuroepithelial patterning in the organ of Corti. Hum. Mol. Genet. 10: 507-512.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 507-512
-
-
Tsai, H.1
Hardisty, R.E.2
Rhodes, C.3
Kiernan, A.E.4
Roby, P.5
-
190
-
-
0033566085
-
The cell-surface proteoglycan Dally regulates Wingless signaling in Drosophila
-
TSUDA, M., K. KAMIMURA, H. NAKATO, M. ARCHER, W. STAATZ et al., 1999 The cell-surface proteoglycan Dally regulates Wingless signaling in Drosophila. Nature 400: 213-215.
-
(1999)
Nature
, vol.400
, pp. 213-215
-
-
Tsuda, M.1
Kamimura, K.2
Nakato, H.3
Archer, M.4
Staatz, W.5
-
191
-
-
0029786254
-
Intelligence and the X chromosome
-
TURNER, G., 1996 Intelligence and the X chromosome. Lancet 347: 1814-1815.
-
(1996)
Lancet
, vol.347
, pp. 1814-1815
-
-
Turner, G.1
-
192
-
-
0025832873
-
Genes for intelligence on the X chromosome
-
TURNER, G., and M. W. PARTINGTON, 1991 Genes for intelligence on the X chromosome. J. Med. Genet. 28: 429.
-
(1991)
J. Med. Genet.
, vol.28
, pp. 429
-
-
Turner, G.1
Partington, M.W.2
-
194
-
-
13144255748
-
Neural basis of an inherited speech and language disorder
-
VARGHA-KHADEM, F., K. E. WATKINS, C. J. PRICE, J. ASHBURNER, K. J. ALCOCK et al., 1998 Neural basis of an inherited speech and language disorder. Proc. Natl. Acad. Sci. USA 95: 12695-12700.
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 12695-12700
-
-
Vargha-Khadem, F.1
Watkins, K.E.2
Price, C.J.3
Ashburner, J.4
Alcock, K.J.5
-
195
-
-
0035895505
-
The sequence of the human genome
-
VENTER, J. C., M. D. ADAMS, E. W. MYERS, P. W. LI, R. J. MURAL et al., 2001 The sequence of the human genome. Science 291: 1304-1351.
-
(2001)
Science
, vol.291
, pp. 1304-1351
-
-
Venter, J.C.1
Adams, M.D.2
Myers, E.W.3
Li, P.W.4
Mural, R.J.5
-
196
-
-
0035858880
-
The Drosophila protein Asp is involved in microtubule organization during spindle formation and cytokinesis
-
WAKEFIELD, J. G., S. BONACCORSI and M. GATTI, 2001 The Drosophila protein Asp is involved in microtubule organization during spindle formation and cytokinesis. J. Cell Biol. 153: 637-647.
-
(2001)
J. Cell Biol.
, vol.153
, pp. 637-647
-
-
Wakefield, J.G.1
Bonaccorsi, S.2
Gatti, M.3
-
197
-
-
0031973893
-
Cellular pathology of lysosomal storage disorders
-
WALKLEY, S. U., 1998 Cellular pathology of lysosomal storage disorders. Brain Pathol. 8: 175-193.
-
(1998)
Brain Pathol.
, vol.8
, pp. 175-193
-
-
Walkley, S.U.1
-
198
-
-
34247636023
-
How are the regulators regulated? The search for mechanisms that impose specificity on induction of cell death and NF-kappaB activation by members of the TNF/ NGF receptor family
-
WALLACH, D., T. U. ARUMUGAM, M. P. BOLDIN, G. CANTARELLA, K. A. GANESH et al., 2002 How are the regulators regulated? The search for mechanisms that impose specificity on induction of cell death and NF-kappaB activation by members of the TNF/ NGF receptor family. Arthritis Res. 4: S189-S196.
-
(2002)
Arthritis Res.
, vol.4
-
-
Wallach, D.1
Arumugam, T.U.2
Boldin, M.P.3
Cantarella, G.4
Ganesh, K.A.5
-
199
-
-
0033855246
-
Mutations in holoprosencephaly
-
WALLIS, D., and M. MUENKE, 2000 Mutations in holoprosencephaly. Hum. Mutat. 16: 99-108.
-
(2000)
Hum. Mutat.
, vol.16
, pp. 99-108
-
-
Wallis, D.1
Muenke, M.2
-
200
-
-
0033761489
-
Characterization of dFMR1, a Drosophila melanogaster homolog of the fragile X mental retardation protein
-
WAN, L., T. C. DOCKENDORFF, T. A. JONGENS and G. DREYFUSS, 2000 Characterization of dFMR1, a Drosophila melanogaster homolog of the fragile X mental retardation protein. Mol. Cell. Biol. 20: 8536-8547.
-
(2000)
Mol. Cell. Biol.
, vol.20
, pp. 8536-8547
-
-
Wan, L.1
Dockendorff, T.C.2
Jongens, T.A.3
Dreyfuss, G.4
-
201
-
-
18544392423
-
Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila
-
WARRICK J. M., H. L. PAULSON, G. L. GRAY-BOARD, Q. T. BUI, K. H. FISCHBECK et al., 1998 Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila. Cell 93: 939-949.
-
(1998)
Cell
, vol.93
, pp. 939-949
-
-
Warrick, J.M.1
Paulson, H.L.2
Gray-Board, G.L.3
Bui, Q.T.4
Fischbeck, K.H.5
-
202
-
-
0034949521
-
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the LICAM gene
-
WELLER, S., and J. GARTNER, 2001 Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): mutations in the LICAM gene. Hum. Mutat. 18: 1-12.
-
(2001)
Hum. Mutat.
, vol.18
, pp. 1-12
-
-
Weller, S.1
Gartner, J.2
-
203
-
-
0031038716
-
A Drosophila gene with predicted rhoGEF, pleckstrin homology and SH3 domains is highly expressed in morphogenic tissues
-
WERNER, L. A., and L. J. MANSEAU, 1997 A Drosophila gene with predicted rhoGEF, pleckstrin homology and SH3 domains is highly expressed in morphogenic tissues. Gene 187: 107-114.
-
(1997)
Gene
, vol.187
, pp. 107-114
-
-
Werner, L.A.1
Manseau, L.J.2
-
204
-
-
0035964220
-
Pheno/ genotypic correlations of neuronal ceroid lipofuscinoses
-
WISNIEWSKI, K. E., N. ZHONG and M. PHILIPPART, 2001 Pheno/ genotypic correlations of neuronal ceroid lipofuscinoses. Neurology 57: 576-581.
-
(2001)
Neurology
, vol.57
, pp. 576-581
-
-
Wisniewski, K.E.1
Zhong, N.2
Philippart, M.3
-
205
-
-
0033032988
-
The Drosophila cinnamon gene is functionally homologous to Arabidopsis cnx1 and has a similar expression pattern to the mammalian gephyrin gene
-
WITTLE, A. E., K. P. KAMDAR and V. FINNERTY, 1999 The Drosophila cinnamon gene is functionally homologous to Arabidopsis cnx1 and has a similar expression pattern to the mammalian gephyrin gene. Mol. Gen. Genet. 261: 672-680.
-
(1999)
Mol. Gen. Genet.
, vol.261
, pp. 672-680
-
-
Wittle, A.E.1
Kamdar, K.P.2
Finnerty, V.3
-
206
-
-
0034922597
-
Genetic analysis of the Drosophila Gsα Gene
-
WOLFGANG, W. J., A. HOSKOTE, I. J. H. ROBERTS, S. JACKSON and M. FORTE, 2001 Genetic analysis of the Drosophila Gsα Gene. Genetics 158: 1189-1201.
-
(2001)
Genetics
, vol.158
, pp. 1189-1201
-
-
Wolfgang, W.J.1
Hoskote, A.2
Roberts, I.J.H.3
Jackson, S.4
Forte, M.5
-
207
-
-
0033032882
-
Moyamoya syndrome in children with Alagille syndrome: Additional evidence of a vasculopathy
-
WOOLFENDEN, A. R., G. W. ALBERS, G. K. STEINBERG, J. S. HAHN, D. C. C. JOHNSTON et al., 1999 Moyamoya syndrome in children with Alagille syndrome: additional evidence of a vasculopathy. Pediatrics 103: 505-508.
-
(1999)
Pediatrics
, vol.103
, pp. 505-508
-
-
Woolfenden, A.R.1
Albers, G.W.2
Steinberg, G.K.3
Hahn, J.S.4
Johnston, D.C.C.5
-
208
-
-
0035964314
-
Control of Drosophila perineurial glial growth by interacting neurotransmitter-mediated signaling pathways
-
YAGER, J., S. RICHARDS, D. S. HEKMAT-SCAFE, D. D. HURD, V. SUNDARESAN et al., 2001 Control of Drosophila perineurial glial growth by interacting neurotransmitter-mediated signaling pathways. Proc. Natl. Acad. Sci. USA 98: 10445-10450.
-
(2001)
Proc. Natl. Acad. Sci. USA
, vol.98
, pp. 10445-10450
-
-
Yager, J.1
Richards, S.2
Hekmat-Scafe, D.S.3
Hurd, D.D.4
Sundaresan, V.5
-
209
-
-
18444414277
-
Expanding phenotype of XNP mutations: Mild to moderate mental retardation
-
YNTEMA, H. G., F. A. POPPELAARS, E. DERKSEN, A. R. OUDAKKER, T. VAN ROOSMALEN et al., 2002 Expanding phenotype of XNP mutations: mild to moderate mental retardation. Am. J. Med. Genet. 110: 243-247.
-
(2002)
Am. J. Med. Genet.
, vol.110
, pp. 243-247
-
-
Yntema, H.G.1
Poppelaars, F.A.2
Derksen, E.3
Oudakker, A.R.4
Van Roosmalen, T.5
-
210
-
-
0037423293
-
The fragile X syndrome protein FMRP associates with BC1 RNA and regulates translation of specific mRNAs at synapses
-
ZALFA, F., M. GIORGI, B. PRIMERANO, A. MORO, A. DI PENTA et al., 2003 The fragile X syndrome protein FMRP associates with BC1 RNA and regulates translation of specific mRNAs at synapses. Cell 112: 317-327.
-
(2003)
Cell
, vol.112
, pp. 317-327
-
-
Zalfa, F.1
Giorgi, M.2
Primerano, B.3
Moro, A.4
Di Penta, A.5
-
211
-
-
0034519141
-
Behavioral functions of the insect mushroom bodies
-
ZARS, T., 2000 Behavioral functions of the insect mushroom bodies. Curr. Opin. Neurobiol. 10: 790-795.
-
(2000)
Curr. Opin. Neurobiol.
, vol.10
, pp. 790-795
-
-
Zars, T.1
-
212
-
-
0035577350
-
A high density of X-linked genes for general cognitive ability: A run-away process shaping human evolution?
-
ZECHNER, U., M. WILDA, H. KEHRER-SAWATZKI, W. VOGEL, R. FUNDELE et al., 2001 A high density of X-linked genes for general cognitive ability: A run-away process shaping human evolution? Trends Genet. 17: 697-701.
-
(2001)
Trends Genet.
, vol.17
, pp. 697-701
-
-
Zechner, U.1
Wilda, M.2
Kehrer-Sawatzki, H.3
Vogel, W.4
Fundele, R.5
-
213
-
-
0037059609
-
Drosophila atrophin homolog functions as a transcriptional corepressor in multiple developmental processes
-
ZHANG, S., L. XU, J. LEE and T. XU, 2002 Drosophila atrophin homolog functions as a transcriptional corepressor in multiple developmental processes. Cell 108: 45-56.
-
(2002)
Cell
, vol.108
, pp. 45-56
-
-
Zhang, S.1
Xu, L.2
Lee, J.3
Xu, T.4
-
214
-
-
0035977134
-
Drosophila fragile X-related gene regulates the MAP1B homolog Futsch to control synaptic structure and function
-
ZHANG, Y. Q., A. M, BAILEY, H. J. MATTHIES, R. B. RENDEN, M. A. SMITH et al., 2001 Drosophila fragile X-related gene regulates the MAP1B homolog Futsch to control synaptic structure and function. Cell 107: 591-603.
-
(2001)
Cell
, vol.107
, pp. 591-603
-
-
Zhang, Y.Q.1
Bailey, A.M.2
Matthies, H.J.3
Renden, R.B.4
Smith, M.A.5
|