-
1
-
-
0023239442
-
Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
-
Lander ES, Botstein D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 1987;236:1567-1570.
-
(1987)
Science
, vol.236
, pp. 1567-1570
-
-
Lander, E.S.1
Botstein, D.2
-
3
-
-
6344231182
-
Progressive myoclonic epilepsy
-
Zupanc ML, Legros B. Progressive myoclonic epilepsy. Cerebellum 2004;3:156-171.
-
(2004)
Cerebellum
, vol.3
, pp. 156-171
-
-
Zupanc, M.L.1
Legros, B.2
-
4
-
-
15044357259
-
Progressive myoclonic epilepsies: A review of genetic and therapeutic aspects
-
Shahwan A, Farrell M, Delanty N. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. Lancet Neurol 2005;4:239-248.
-
(2005)
Lancet Neurol
, vol.4
, pp. 239-248
-
-
Shahwan, A.1
Farrell, M.2
Delanty, N.3
-
5
-
-
0242575056
-
Clinical presentations and phenomenology of myoclonus
-
Faught E. Clinical presentations and phenomenology of myoclonus. Epilepsia 2003;44(suppl 11):7-12.
-
(2003)
Epilepsia
, vol.44
, Issue.SUPPL. 11
, pp. 7-12
-
-
Faught, E.1
-
7
-
-
0032606023
-
The molecular genetic bases of the progressive myoclonus epilepsies
-
Serratosa JM, Gardiner RM, Lehesjoki AE, et al. The molecular genetic bases of the progressive myoclonus epilepsies. Adv Neurol 1999;79:383-398.
-
(1999)
Adv Neurol
, vol.79
, pp. 383-398
-
-
Serratosa, J.M.1
Gardiner, R.M.2
Lehesjoki, A.E.3
-
9
-
-
0242490839
-
Recent developments in the quest for myoclonic epilepsy genes
-
Delgado-Escueta AV, Perez-Gosiengfiao KB, Bai D, et al. Recent developments in the quest for myoclonic epilepsy genes. Epilepsia 2003;44(suppl 11):13-26.
-
(2003)
Epilepsia
, vol.44
, Issue.SUPPL. 11
, pp. 13-26
-
-
Delgado-Escueta, A.V.1
Perez-Gosiengfiao, K.B.2
Bai, D.3
-
10
-
-
0242659220
-
Classification of the myoclonic epilepsies
-
Leppik IE. Classification of the myoclonic epilepsies. Epilepsia 2003;44(suppl 11):2-6.
-
(2003)
Epilepsia
, vol.44
, Issue.SUPPL. 11
, pp. 2-6
-
-
Leppik, I.E.1
-
11
-
-
4544352267
-
Myoclonus: Current concepts and recent advances
-
Caviness JN, Brown P. Myoclonus: current concepts and recent advances. Lancet Neurol 2004;3:598-607.
-
(2004)
Lancet Neurol
, vol.3
, pp. 598-607
-
-
Caviness, J.N.1
Brown, P.2
-
12
-
-
9144252038
-
Complete sequencing and characterization of 21,243 full-length human cDNAs
-
Ota T, Suzuki Y, Nishikawa T, et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet 2004;36:40-45.
-
(2004)
Nat Genet
, vol.36
, pp. 40-45
-
-
Ota, T.1
Suzuki, Y.2
Nishikawa, T.3
-
13
-
-
0033638751
-
Neurological potassium channelopathies
-
Benatar M. Neurological potassium channelopathies. QJM 2000;93:787-797.
-
(2000)
QJM
, vol.93
, pp. 787-797
-
-
Benatar, M.1
-
14
-
-
34548105127
-
Sequence and structural analysis of BTB domain proteins
-
Stogios PJ, Downs GS, Jauhal JJ, et al. Sequence and structural analysis of BTB domain proteins. Genome Biol 2005;6:R82.
-
(2005)
Genome Biol
, vol.6
-
-
Stogios, P.J.1
Downs, G.S.2
Jauhal, J.J.3
-
15
-
-
0003252192
-
Preparation and analysis of eukaryotic genomic DNA
-
3rd ed. New York: Cold Spring Harbor Laboratory Press
-
Sambrook J, Russel DW. Preparation and analysis of eukaryotic genomic DNA. Molecular cloning - a laboratory manual. 3rd ed. New York: Cold Spring Harbor Laboratory Press, 2001:6.4-6.12.
-
(2001)
Molecular cloning - a laboratory manual
-
-
Sambrook, J.1
Russel, D.W.2
-
16
-
-
16544370230
-
A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR
-
Woods CG, Valente EM, Bond J, Roberts E. A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR. J Med Genet 2004;41:e101.
-
(2004)
J Med Genet
, vol.41
-
-
Woods, C.G.1
Valente, E.M.2
Bond, J.3
Roberts, E.4
-
17
-
-
0028857541
-
Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping
-
Kruglyak L, Daly MJ, Lander ES. Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet 1995;56:519-527.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 519-527
-
-
Kruglyak, L.1
Daly, M.J.2
Lander, E.S.3
-
18
-
-
0035714840
-
Identification of a human brain-specific gene, calneuron 1, a new member of the calmodulin superfamily
-
Wu YQ, Lin X, Liu CM, et al. Identification of a human brain-specific gene, calneuron 1, a new member of the calmodulin superfamily. Mol Genet Metab 2001;72:343-350.
-
(2001)
Mol Genet Metab
, vol.72
, pp. 343-350
-
-
Wu, Y.Q.1
Lin, X.2
Liu, C.M.3
-
20
-
-
33644800768
-
Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+)
-
Scheffer IE, Harkin LA, Dibbens LM, et al. Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+). Epilepsia 2005;46(suppl 10):41-47.
-
(2005)
Epilepsia
, vol.46
, Issue.SUPPL. 10
, pp. 41-47
-
-
Scheffer, I.E.1
Harkin, L.A.2
Dibbens, L.M.3
-
21
-
-
0344012023
-
KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: Expansion of the functional and mutation spectrum
-
Singh NA, Westenskow P, Charlier C, et al. KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. Brain 2003;126:2726-2737.
-
(2003)
Brain
, vol.126
, pp. 2726-2737
-
-
Singh, N.A.1
Westenskow, P.2
Charlier, C.3
-
22
-
-
0033525169
-
-
Hentze MW, Kulozik AE. A perfect message: RNA surveillance and nonsense-mediated decay. Cell 1999;96:307-310.
-
Hentze MW, Kulozik AE. A perfect message: RNA surveillance and nonsense-mediated decay. Cell 1999;96:307-310.
-
-
-
-
23
-
-
0035949479
-
Controlling potassium channel activities: Interplay between the membrane and intracellular factors
-
Yi BA, Minor DL Jr, Lin YF, et al. Controlling potassium channel activities: interplay between the membrane and intracellular factors. Proc Natl Acad Sci U S A 2001;98:11016-11023.
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 11016-11023
-
-
Yi, B.A.1
Minor Jr, D.L.2
Lin, Y.F.3
-
24
-
-
0033603236
-
Structure of a voltage-dependent K+ channel beta subunit
-
Gulbis JM, Mann S, MacKinnon R. Structure of a voltage-dependent K+ channel beta subunit. Cell 1999;97:943-952.
-
(1999)
Cell
, vol.97
, pp. 943-952
-
-
Gulbis, J.M.1
Mann, S.2
MacKinnon, R.3
-
25
-
-
0037468613
-
A new human gene KCNRG encoding potassium channel regulating protein is a cancer suppressor gene candidate located in 13q14.3
-
Ivanov DV, Tyazhelova TV, Lemonnier L, et al. A new human gene KCNRG encoding potassium channel regulating protein is a cancer suppressor gene candidate located in 13q14.3. FEBS Lett 2003;539:156-160.
-
(2003)
FEBS Lett
, vol.539
, pp. 156-160
-
-
Ivanov, D.V.1
Tyazhelova, T.V.2
Lemonnier, L.3
-
26
-
-
0035834008
-
A tumor necrosis factor alpha- and interleukin 6-inducible protein that interacts with the small subunit of DNA polymerase delta and proliferating cell nuclear antigen
-
He H, Tan CK, Downey KM, So AG. A tumor necrosis factor alpha- and interleukin 6-inducible protein that interacts with the small subunit of DNA polymerase delta and proliferating cell nuclear antigen. Proc Natl Acad Sci U S A 2001;98:11979-11984.
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 11979-11984
-
-
He, H.1
Tan, C.K.2
Downey, K.M.3
So, A.G.4
-
27
-
-
21744435257
-
A novel PDIP1-related protein, KCTD10, that interacts with proliferating cell nuclear antigen and DNA polymerase delta
-
Zhou J, Ren K, Hu X, et al. A novel PDIP1-related protein, KCTD10, that interacts with proliferating cell nuclear antigen and DNA polymerase delta. Biochim Biophys Acta 2005;1729:200-203.
-
(2005)
Biochim Biophys Acta
, vol.1729
, pp. 200-203
-
-
Zhou, J.1
Ren, K.2
Hu, X.3
-
28
-
-
0037135976
-
REN: A novel, developmentally regulated gene that promotes neural cell differentiation
-
Gallo R, Zazzeroni F, Alesse E, et al. REN: a novel, developmentally regulated gene that promotes neural cell differentiation. J Cell Biol 2002;158:731-740.
-
(2002)
J Cell Biol
, vol.158
, pp. 731-740
-
-
Gallo, R.1
Zazzeroni, F.2
Alesse, E.3
-
29
-
-
24744446807
-
Hedgehog antagonist REN(KCTD11) regulates proliferation and apoptosis of developing granule cell progenitors
-
Argenti B, Gallo R, Di Marcotullio L, et al. Hedgehog antagonist REN(KCTD11) regulates proliferation and apoptosis of developing granule cell progenitors. J Neurosci 2005;25:8338-8346.
-
(2005)
J Neurosci
, vol.25
, pp. 8338-8346
-
-
Argenti, B.1
Gallo, R.2
Di Marcotullio, L.3
-
30
-
-
3042553756
-
Isolation from cochlea of a novel human intronless gene with predominant fetal expression
-
Resendes BL, Kuo SF, Robertson NG, et al. Isolation from cochlea of a novel human intronless gene with predominant fetal expression. J Assoc Res Otolaryngol 2004;5:185-202.
-
(2004)
J Assoc Res Otolaryngol
, vol.5
, pp. 185-202
-
-
Resendes, B.L.1
Kuo, S.F.2
Robertson, N.G.3
-
31
-
-
27744439030
-
Directional asymmetry of the zebrafish epithalamus guides dorsoventral innervation of the midbrain target
-
Gamse JT, Kuan YS, Macurak M, et al. Directional asymmetry of the zebrafish epithalamus guides dorsoventral innervation of the midbrain target. Development 2005;132:4869-4881.
-
(2005)
Development
, vol.132
, pp. 4869-4881
-
-
Gamse, J.T.1
Kuan, Y.S.2
Macurak, M.3
|