-
1
-
-
0024502803
-
Benign familial neonatal convulsions linked to genetic markers on chromosome 20
-
Leppert M, Anderson VE, Quattlebaum T et al. Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature 1989; 337: 647-648.
-
(1989)
Nature
, vol.337
, pp. 647-648
-
-
Leppert, M.1
Anderson, V.E.2
Quattlebaum, T.3
-
2
-
-
0032536030
-
A potassium channel mutation in neonatal human epilepsy
-
Biervert C, Schroeder BC, Kubisch C et al. A potassium channel mutation in neonatal human epilepsy. Science 1998; 279: 406-409.
-
(1998)
Science
, vol.279
, pp. 406-409
-
-
Biervert, C.1
Schroeder, B.C.2
Kubisch, C.3
-
3
-
-
17344372328
-
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
-
Singh NA, Charlier C, Stauffer D et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nature Genet 1998; 18: 25-29.
-
(1998)
Nature Genet
, vol.18
, pp. 25-29
-
-
Singh, N.A.1
Charlier, C.2
Stauffer, D.3
-
4
-
-
0027359350
-
Genetic heterogeneity in benign familial neonatal convulsions: Identification of a new locus on chromosome 8q
-
Lewis TB, Leach RJ, Ward K et al. Genetic heterogeneity in benign familial neonatal convulsions: Identification of a new locus on chromosome 8q. Am J Hum Genet 1993; 53: 670-675.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 670-675
-
-
Lewis, T.B.1
Leach, R.J.2
Ward, K.3
-
5
-
-
0031974209
-
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
-
Charlier C, Singh NA, Ryan SG et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nature Genet 1998; 18: 53-55.
-
(1998)
Nature Genet
, vol.18
, pp. 53-55
-
-
Charlier, C.1
Singh, N.A.2
Ryan, S.G.3
-
6
-
-
8044248429
-
Linkage mapping of benign infantile convulsions (BFIC) to chromosome 19q
-
Guipponi M, Rivier F, Vigevano F et al. Linkage mapping of benign infantile convulsions (BFIC) to chromosome 19q. Hum Mol Genet 1997; 6: 473-477.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 473-477
-
-
Guipponi, M.1
Rivier, F.2
Vigevano, F.3
-
7
-
-
0032764078
-
No evidence for a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1
-
Gennaro E, Malacarne M, Carbone I et al. No evidence for a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1. Epilepsia 1999; 40: 1799-1803.
-
(1999)
Epilepsia
, vol.40
, pp. 1799-1803
-
-
Gennaro, E.1
Malacarne, M.2
Carbone, I.3
-
8
-
-
0029045967
-
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2
-
Phillips HA, Scheffer IE, Berkovic SF et al. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2. Nature Genet 1995; 10: 117-118.
-
(1995)
Nature Genet
, vol.10
, pp. 117-118
-
-
Phillips, H.A.1
Scheffer, I.E.2
Berkovic, S.F.3
-
9
-
-
0028980028
-
A missense mutation in the neuronal receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
-
Steinlein OK, Mulley JC, Propping P et al. A missense mutation in the neuronal receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nature Genet 1995; 11: 201-203.
-
(1995)
Nature Genet
, vol.11
, pp. 201-203
-
-
Steinlein, O.K.1
Mulley, J.C.2
Propping, P.3
-
10
-
-
0030916583
-
An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy
-
Steinlein OK, Magnusson A, Stoodt J et al. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum Mol Genet 1997; 6: 943-947.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 943-947
-
-
Steinlein, O.K.1
Magnusson, A.2
Stoodt, J.3
-
11
-
-
0033544326
-
A novel mutation in CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy
-
Hirose S, Iwata H, Akiyoshi H et al. A novel mutation in CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. Neurology 1999; 53:1749-1753.
-
(1999)
Neurology
, vol.53
, pp. 1749-1753
-
-
Hirose, S.1
Iwata, H.2
Akiyoshi, H.3
-
12
-
-
0032231423
-
Autosomal dominant nocturnal frontal-lobe epilepsy: Genetic heterogeneity and evidence for a second locus at 15q24
-
Phillips HA, Scheffer IE, Crossland KM et al. Autosomal dominant nocturnal frontal-lobe epilepsy: Genetic heterogeneity and evidence for a second locus at 15q24. Am J Hum Genet 1998; 63: 1108-1116.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1108-1116
-
-
Phillips, H.A.1
Scheffer, I.E.2
Crossland, K.M.3
-
13
-
-
0029059069
-
Localization of a gene for partial epilepsy to chromosome 10q
-
Ottman R, Risch N, Hauser WA et al. Localization of a gene for partial epilepsy to chromosome 10q. Nature Genet 1995; 10: 56-60.
-
(1995)
Nature Genet
, vol.10
, pp. 56-60
-
-
Ottman, R.1
Risch, N.2
Hauser, W.A.3
-
14
-
-
0030943313
-
Generalized epilepsy with febrile seizures plus: A genetic disorder with heterogeneous clinical phenotypes
-
Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus: A genetic disorder with heterogeneous clinical phenotypes. Brain 1997; 120: 479-490.
-
(1997)
Brain
, vol.120
, pp. 479-490
-
-
Scheffer, I.E.1
Berkovic, S.F.2
-
15
-
-
17344367657
-
Febrile seizures and generalized epilepsy associated with a mutation in the Na(+)-channel beta-1 subunit gene SCN1B
-
Wallace RH, Wang DW, Singh R et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na(+)-channel beta-1 subunit gene SCN1B. Nature Genet 1998; 19: 366-370.
-
(1998)
Nature Genet
, vol.19
, pp. 366-370
-
-
Wallace, R.H.1
Wang, D.W.2
Singh, R.3
-
16
-
-
0033364824
-
A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33
-
Baulac S, Gourfinkel-An I, Picard F et al. A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. Am J Hum Genet 1999; 65: 1078-1085.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1078-1085
-
-
Baulac, S.1
Gourfinkel-An, I.2
Picard, F.3
-
17
-
-
0033362028
-
Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12
-
Xiong L, Labuda M, Li D.-S, et al. Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. Am J Hum Genet 1999; 65: 1698-1710.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1698-1710
-
-
Xiong, L.1
Labuda, M.2
Li, D.-S.3
-
18
-
-
0033365214
-
Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1
-
Mikami M, Yasuda T, Terao A, et al. Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1. Am J Hum Genet 1999; 65: 745-751.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 745-751
-
-
Mikami, M.1
Yasuda, T.2
Terao, A.3
-
19
-
-
0032881391
-
Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24
-
Plaster NM, Uyama E, Uchino M et al. Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24. Neurology 1999; 53:1180-1183.
-
(1999)
Neurology
, vol.53
, pp. 1180-1183
-
-
Plaster, N.M.1
Uyama, E.2
Uchino, M.3
-
20
-
-
0025909848
-
Localisation of a gene for progressive myoclonus epilepsy to chromosome 21q22
-
Lehesjoki A-E, Koskiniemi M, Sistonen P et al. Localisation of a gene for progressive myoclonus epilepsy to chromosome 21q22. PNAS 1991; 88: 3696-3699.
-
(1991)
PNAS
, vol.88
, pp. 3696-3699
-
-
Lehesjoki, A.-E.1
Koskiniemi, M.2
Sistonen, P.3
-
21
-
-
13344269666
-
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
-
Pennacchio LA, Lehesjoki A-E, Stone NE et al. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 1996; 271: 1731-1734.
-
(1996)
Science
, vol.271
, pp. 1731-1734
-
-
Pennacchio, L.A.1
Lehesjoki, A.-E.2
Stone, N.E.3
-
22
-
-
0026100469
-
Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1
-
Jarvela I, Schleutker J, Haataja L et al. Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1. Genomics 1991; 9: 170-173.
-
(1991)
Genomics
, vol.9
, pp. 170-173
-
-
Jarvela, I.1
Schleutker, J.2
Haataja, L.3
-
23
-
-
0029153109
-
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
-
Vesa J, Hellsten E, Verkruyse LA et al. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 1995; 376: 584-587.
-
(1995)
Nature
, vol.376
, pp. 584-587
-
-
Vesa, J.1
Hellsten, E.2
Verkruyse, L.A.3
-
24
-
-
0030937327
-
Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 +15q21-23
-
Sharp JD, Wheeler RB, Lake BD, Savukoski M, Jarvela IE, Peltonen L, Gardiner RM, Williams RE et al. Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 +15q21-23. Hum Mol Genet 1997; 6: 591-596.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 591-596
-
-
Sharp, J.D.1
Wheeler, R.B.2
Lake, B.D.3
Savukoski, M.4
Jarvela, I.E.5
Peltonen, L.6
Gardiner, R.M.7
Williams, R.E.8
-
25
-
-
0030866233
-
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis
-
Sleat, DE, Donnelly RJ, Lackland H et al. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 1997; 277: 1082-1086.
-
(1997)
Science
, vol.277
, pp. 1082-1086
-
-
Sleat, D.E.1
Donnelly, R.J.2
Lackland, H.3
-
26
-
-
0024450299
-
Batten disease (Spielmeyer-Sjögren disease) and haptoglobins (HP): Indication of linkage and assignment to chromosome 16
-
Eiberg H, Gardiner RM, Mohr J. Batten disease (Spielmeyer-Sjögren disease) and haptoglobins (HP): Indication of linkage and assignment to chromosome 16. Clin Genet 1989; 36: 217-218.
-
(1989)
Clin Genet
, vol.36
, pp. 217-218
-
-
Eiberg, H.1
Gardiner, R.M.2
Mohr, J.3
-
27
-
-
0029147298
-
Isolation of a novel gene underlying batten disease, CLN3
-
The International Batten Disease Consortium. Isolation of a novel gene underlying batten disease, CLN3. Cell 1995; 82: 949-957.
-
(1995)
Cell
, vol.82
, pp. 949-957
-
-
-
28
-
-
0028041361
-
Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses
-
Savukoski M, Kestila M, Williams R et al. Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses. Am J Hum Genet 1994; 55: 695-701.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 695-701
-
-
Savukoski, M.1
Kestila, M.2
Williams, R.3
-
29
-
-
0031803649
-
CLN5, a novel gene encoding a putative transmembrane protein mutated in finnish variant late infantile neuronal ceroid lipofuscinosis
-
Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L. CLN5, a novel gene encoding a putative transmembrane protein mutated in finnish variant late infantile neuronal ceroid lipofuscinosis. Nature Genet 1998; 19: 286-288.
-
(1998)
Nature Genet
, vol.19
, pp. 286-288
-
-
Savukoski, M.1
Klockars, T.2
Holmberg, V.3
Santavuori, P.4
Lander, E.S.5
Peltonen, L.6
-
30
-
-
0028237047
-
The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8
-
Tahvanainen E, Ranta S, Hirvasniemi A et al. The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8. PNAS 1994; 91: 7267-7270.
-
(1994)
PNAS
, vol.91
, pp. 7267-7270
-
-
Tahvanainen, E.1
Ranta, S.2
Hirvasniemi, A.3
-
31
-
-
0032831071
-
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8
-
Ranta S, Zhang Y, Ross B, et al. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nature Genet 1999; 23: 233-236.
-
(1999)
Nature Genet
, vol.23
, pp. 233-236
-
-
Ranta, S.1
Zhang, Y.2
Ross, B.3
-
32
-
-
0029082843
-
The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q
-
Serratosa JM, Delgado-Escueta AV, Posada I et al. The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q. Hum Mol Genet 1995; 5: 1657-1663.
-
(1995)
Hum Mol Genet
, vol.5
, pp. 1657-1663
-
-
Serratosa, J.M.1
Delgado-Escueta, A.V.2
Posada, I.3
-
33
-
-
17344362307
-
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
-
Minassian BA, Lee JR, Herbrick J.-A et al. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nature Genet 1998; 20: 171-174.
-
(1998)
Nature Genet
, vol.20
, pp. 171-174
-
-
Minassian, B.A.1
Lee, J.R.2
Herbrick, J.-A.3
-
34
-
-
0344359726
-
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)
-
Serratosa JM, Gomez-Garre P, Gallardo ME et al. A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2). Hum Mol Genet 1999; 8: 345-352.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 345-352
-
-
Serratosa, J.M.1
Gomez-Garre, P.2
Gallardo, M.E.3
-
35
-
-
0023712810
-
Juvenile myoclonic epilepsy may be linked to the BF and HLA loci on human chromosome 6
-
Greenberg DA, Delgado-Escueta AV, Widelitz H et al. Juvenile myoclonic epilepsy may be linked to the BF and HLA loci on human chromosome 6. Am J Med Genet 1988; 31: 185-192.
-
(1988)
Am J Med Genet
, vol.31
, pp. 185-192
-
-
Greenberg, D.A.1
Delgado-Escueta, A.V.2
Widelitz, H.3
-
36
-
-
0026057715
-
Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region on chromosome 6
-
Weissbecker KA, Durner M, Janz D et al. Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region on chromosome 6. Am J Med Genet 1991; 38: 32-36.
-
(1991)
Am J Med Genet
, vol.38
, pp. 32-36
-
-
Weissbecker, K.A.1
Durner, M.2
Janz, D.3
-
37
-
-
0026096204
-
Localisation of idiopathic generalised epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients
-
Durner M, Sander T, Greenberg DA et al. Localisation of idiopathic generalised epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients. Neurology 1991; 41: 1651-1655.
-
(1991)
Neurology
, vol.41
, pp. 1651-1655
-
-
Durner, M.1
Sander, T.2
Greenberg, D.A.3
-
38
-
-
0027362601
-
Linkage analysis of idiopathic generalised epilepsy and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: No evidence for an epilepsy locus in the HLA region
-
Whitehouse WP, Rees M, Curtis D et al. Linkage analysis of idiopathic generalised epilepsy and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: No evidence for an epilepsy locus in the HLA region. Am J Hum Genet 1993; 53: 652-662.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 652-662
-
-
Whitehouse, W.P.1
Rees, M.2
Curtis, D.3
-
39
-
-
0029013275
-
Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11:Linkage to convulsions and electroencephalography trait
-
Liu AW, Delgado-Escueta AV, Serratosa JM et al. Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11:Linkage to convulsions and electroencephalography trait. Am J Hum Genet 1995; 57: 368-381.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 368-381
-
-
Liu, A.W.1
Delgado-Escueta, A.V.2
Serratosa, J.M.3
-
40
-
-
19244363758
-
Linkage analysis of juvenile myoclonic epilepsy and microsatellite loci spanning 61 cM of human chromosome 6p in 19 nuclear pedigrees provides no evidence for a susceptibility locus in this region
-
Elmslie FV, Williamson MP, Rees M et al. Linkage analysis of juvenile myoclonic epilepsy and microsatellite loci spanning 61 cM of human chromosome 6p in 19 nuclear pedigrees provides no evidence for a susceptibility locus in this region. Am J Hum Genet 1996; 59: 653-663.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 653-663
-
-
Elmslie, F.V.1
Williamson, M.P.2
Rees, M.3
-
41
-
-
8544254723
-
Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q
-
Elmslie FV, Rees M, Williamson MP et al. Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. Hum Mol Genet 1997; 6: 1329-1334.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1329-1334
-
-
Elmslie, F.V.1
Rees, M.2
Williamson, M.P.3
-
42
-
-
0029037677
-
Mapping of genes predisposing to idiopathic generalized epilepsy
-
Zara F, Bianchi A, Avanzini G et al. Mapping of genes predisposing to idiopathic generalized epilepsy. Hum Mol Genet 1996; 4: 1201-1207.
-
(1996)
Hum Mol Genet
, vol.4
, pp. 1201-1207
-
-
Zara, F.1
Bianchi, A.2
Avanzini, G.3
-
43
-
-
0031723313
-
Unusual EEG pattern linked to chromosome 3p in a family with idiopathic generalized epilepsy
-
Zara F, Labuda M, Garofalo PG et al. Unusual EEG pattern linked to chromosome 3p in a family with idiopathic generalized epilepsy. Neurology 1998; 51: 493-498.
-
(1998)
Neurology
, vol.51
, pp. 493-498
-
-
Zara, F.1
Labuda, M.2
Garofalo, P.G.3
-
44
-
-
0032231907
-
Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: Linkage to chromosome 8q24
-
Fong GCY, Shah PU, Gee MN, et al. Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: Linkage to chromosome 8q24. Am J Hum Genet 1998; 63: 1117-1129.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1117-1129
-
-
Fong, G.C.Y.1
Shah, P.U.2
Gee, M.N.3
-
45
-
-
0029881889
-
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21
-
Wallace RH, Berkovic SF, Howell RA et al. Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. J Med Genet 1996; 33: 308-312.
-
(1996)
J Med Genet
, vol.33
, pp. 308-312
-
-
Wallace, R.H.1
Berkovic, S.F.2
Howell, R.A.3
-
46
-
-
6844240853
-
Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest
-
Johnson EW, Dubovsky J, Rich SS et al. Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. Hum Mol Genet 1998; 7: 63-67.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 63-67
-
-
Johnson, E.W.1
Dubovsky, J.2
Rich, S.S.3
-
47
-
-
0032834017
-
A locus for febrile seizures (FEB3) maps to chromosome 2q23-24
-
Peiffer A, Thompson J, Charlier C et al. A locus for febrile seizures (FEB3) maps to chromosome 2q23-24. Ann Neurol 1999; 46: 671-678.
-
(1999)
Ann Neurol
, vol.46
, pp. 671-678
-
-
Peiffer, A.1
Thompson, J.2
Charlier, C.3
-
48
-
-
17344375789
-
Significant evidence for linkage of febrile seizures to chromosome 5q14-q15
-
Nakayama J, Hamano K, Iwasaki N et al. Significant evidence for linkage of febrile seizures to chromosome 5q14-q15. Hum Mol Genet 2000; 9: 87-91.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 87-91
-
-
Nakayama, J.1
Hamano, K.2
Iwasaki, N.3
-
49
-
-
0030754979
-
Epilepsy and mental retardation limited to females: An X-linked dominant disorder with male sparing
-
Ryan SG, Chance PF, Zou C-H et al. Epilepsy and mental retardation limited to females: An X-linked dominant disorder with male sparing. Nature Genet 1997; 17: 92-95.
-
(1997)
Nature Genet
, vol.17
, pp. 92-95
-
-
Ryan, S.G.1
Chance, P.F.2
Zou, C.-H.3
-
50
-
-
0023158819
-
Evidence that the gene for tuberous sclerosis is on chromosome 9
-
Fryer AE, Chalmers A, Connor JM et al. Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet 1987; i: 659-661.
-
(1987)
Lancet
, vol.1
, pp. 659-661
-
-
Fryer, A.E.1
Chalmers, A.2
Connor, J.M.3
-
51
-
-
0030879277
-
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
-
van Slegtenhorst M, de Hoogt R, Hermans C et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997; 277: 805-808.
-
(1997)
Science
, vol.277
, pp. 805-808
-
-
Van Slegtenhorst, M.1
De Hoogt, R.2
Hermans, C.3
-
52
-
-
0026922021
-
Linkage of an important gene locus to a chromosome 16 marker for polycystic kidney disease
-
Kandt RS, Haines JL, Smith M et al. Linkage of an important gene locus to a chromosome 16 marker for polycystic kidney disease. Nature Genetics 1992; 2: 37-41.
-
(1992)
Nature Genetics
, vol.2
, pp. 37-41
-
-
Kandt, R.S.1
Haines, J.L.2
Smith, M.3
-
53
-
-
0027770784
-
European chromosome 16 tuberous sclerosis consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16
-
European chromosome 16 tuberous sclerosis consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993; 75: 1305-1315.
-
(1993)
Cell
, vol.75
, pp. 1305-1315
-
-
-
54
-
-
0027438770
-
Molecular mechanisms in Angelman syndrome: A survey of 93 patients
-
Chan CT, Clayton-Smith J, Cheng XJ et al. Molecular mechanisms in Angelman syndrome: A survey of 93 patients. J Med Genet 1993; 30: 895-902.
-
(1993)
J Med Genet
, vol.30
, pp. 895-902
-
-
Chan, C.T.1
Clayton-Smith, J.2
Cheng, X.J.3
-
55
-
-
0031012849
-
UBE3A/E6-AP mutations cause Angelman syndrome
-
Kishino T, Lalande M, Wagstaff J et al. UBE3A/E6-AP mutations cause Angelman syndrome. Nature Genet 1997; 15: 70-73.
-
(1997)
Nature Genet
, vol.15
, pp. 70-73
-
-
Kishino, T.1
Lalande, M.2
Wagstaff, J.3
-
56
-
-
0031031570
-
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
-
Matsuura T, Sutcliffe JS, Fang P et al. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nature Genet 1997; 15: 74-77.
-
(1997)
Nature Genet
, vol.15
, pp. 74-77
-
-
Matsuura, T.1
Sutcliffe, J.S.2
Fang, P.3
-
57
-
-
0023244033
-
Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17
-
Barker D, Wright E, Nguyen K et al. Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science 1987; 236: 1100-1102.
-
(1987)
Science
, vol.236
, pp. 1100-1102
-
-
Barker, D.1
Wright, E.2
Nguyen, K.3
-
58
-
-
0025091465
-
The neurofibromatosis type 1 gene encodes a protein related to GAP
-
Xu GF, O Connell P, Viskochil D et al. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 1990; 62: 599-608.
-
(1990)
Cell
, vol.62
, pp. 599-608
-
-
Xu, G.F.1
O Connell, P.2
Viskochil, D.3
-
59
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
-
Verkerk AJMH, Pieretti M, Sutcliffe JS et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991; 65: 905-914.
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.M.H.1
Pieretti, M.2
Sutcliffe, J.S.3
|