-
2
-
-
0032874085
-
22qll deletion syndrome: A genetic subtype of schizophrenia
-
Bassett AS, Chow EWC. 1999. 22qll deletion syndrome: a genetic subtype of schizophrenia. Biol Psychiatry 46: 882-891.
-
(1999)
Biol Psychiatry
, vol.46
, pp. 882-891
-
-
Bassett, A.S.1
Chow, E.W.C.2
-
3
-
-
0029970076
-
Genetic heterogeneity in catatonic schizophrenia: A family study
-
Beckmann H, Franzek E, Stöber G. 1996. Genetic heterogeneity in catatonic schizophrenia: a family study. Am J Med Genet 67:289-300.
-
(1996)
Am J Med Genet
, vol.67
, pp. 289-300
-
-
Beckmann, H.1
Franzek, E.2
Stöber, G.3
-
4
-
-
0002409238
-
Neuropathology of the endogenous psychoses
-
Henn F, Sartorius N, Helmchen H, Lauter H, editors. Berlin, Heidelberg, New York, Barcelona, Hong Kong, London, Milan, Paris, Singapore, Tokyo: Springer
-
Beckmann H. 2001. Neuropathology of the endogenous psychoses. In: Henn F, Sartorius N, Helmchen H, Lauter H, editors. Contemporary psychiatry, vol. 3. Specific psychiatric disorders. Berlin, Heidelberg, New York, Barcelona, Hong Kong, London, Milan, Paris, Singapore, Tokyo: Springer. p 81-100.
-
(2001)
Contemporary Psychiatry, Vol. 3. Specific Psychiatric Disorders
, vol.3
, pp. 81-100
-
-
Beckmann, H.1
-
5
-
-
0012367411
-
Reduced amplification efficiency of KIAA0027/MLC1 alleles: Implications for the molecular diagnosis of megalencephalic leukoencephalopathy with subcortical cysts
-
in press
-
Bettecken T, Rubie C, Lichtner P, Siekiera M, Meitinger T, Stöber G. Reduced amplification efficiency of KIAA0027/MLC1 alleles: implications for the molecular diagnosis of megalencephalic leukoencephalopathy with subcortical cysts. Mol Cell Probes (in press).
-
Mol Cell Probes
-
-
Bettecken, T.1
Rubie, C.2
Lichtner, P.3
Siekiera, M.4
Meitinger, T.5
Stöber, G.6
-
6
-
-
0027283411
-
Recent advances in the neuropathology of schizophrenia
-
Bogerts B. 1993. Recent advances in the neuropathology of schizophrenia. Schiz Bull 19:431-445.
-
(1993)
Schiz Bull
, vol.19
, pp. 431-445
-
-
Bogerts, B.1
-
7
-
-
0034143592
-
Polymorphic markers for the arylsulfatase A gene reveal a greatly expanded meiotic map for the human 22q telomeric region
-
Brennan MD, Neibergs HL, Phillips K, Moseley S. 2000. Polymorphic markers for the arylsulfatase A gene reveal a greatly expanded meiotic map for the human 22q telomeric region. Genomics 63:430-432.
-
(2000)
Genomics
, vol.63
, pp. 430-432
-
-
Brennan, M.D.1
Neibergs, H.L.2
Phillips, K.3
Moseley, S.4
-
8
-
-
0031877384
-
Structural models of the transmembrane region of voltage-gated and other K+ channels in open, closed, and inactivated conformations
-
Durell SR, Hao Y, Guy HR. 1998. Structural models of the transmembrane region of voltage-gated and other K+ channels in open, closed, and inactivated conformations. J Structural Biology 121:263-284.
-
(1998)
J Structural Biology
, vol.121
, pp. 263-284
-
-
Durell, S.R.1
Hao, Y.2
Guy, H.R.3
-
9
-
-
0028148250
-
Molecular genetics of metachromatic leukodystrophy
-
Gieselmann V, Zlotogora J, Harris A, Wenger DA, Morris CP. 1994. Molecular genetics of metachromatic leukodystrophy. Hum Mutat 4:233-242.
-
(1994)
Hum Mutat
, vol.4
, pp. 233-242
-
-
Gieselmann, V.1
Zlotogora, J.2
Harris, A.3
Wenger, D.A.4
Morris, C.P.5
-
10
-
-
0027400375
-
Velo-cardio-facial syndrome: A review of 120 patients
-
Goldberg R, Motzkin B, Marion R, Scambler PJ, Shprintzen RJ. 1993. Velo-cardio-facial syndrome: a review of 120 patients. Am J Med Genet 45:313-319.
-
(1993)
Am J Med Genet
, vol.45
, pp. 313-319
-
-
Goldberg, R.1
Motzkin, B.2
Marion, R.3
Scambler, P.J.4
Shprintzen, R.J.5
-
11
-
-
0035969935
-
DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2
-
Holinski-Feder E, Müller-Koch Y, Friedl W, Moeslein G, Keller G, Plaschke J, Ballhausen W, GroB M, Baldwin-Jedele K, Jungck M, Mangold E, Vogelsang H, Schackert HK, Lohse P, Murken J, Meitinger T 2001. DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2. J Biochem Biophys Methods 47:21-32.
-
(2001)
J Biochem Biophys Methods
, vol.47
, pp. 21-32
-
-
Holinski-Feder, E.1
Müller-Koch, Y.2
Friedl, W.3
Moeslein, G.4
Keller, G.5
Plaschke, J.6
Ballhausen, W.7
Grob, M.8
Baldwin-Jedele, K.9
Jungck, M.10
Mangold, E.11
Vogelsang, H.12
Schackert, H.K.13
Lohse, P.14
Murken, J.15
Meitinger, T.16
-
12
-
-
0035072651
-
Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leucoencephalopathy with subcortical cysts
-
Leegwater PAJ, Yuan BQ, van der Steen J, Mulders J, Könst AAM, Boor PKI, Mejaski-Bosnjak V, van der Maarel SM, Frants RR, Oudejans CBM, Schutgens RBH, Pronk JC, van der Knaap MS. 2001. Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leucoencephalopathy with subcortical cysts. Am J Hum Genet 68:831-838.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 831-838
-
-
Leegwater, P.A.J.1
Yuan, B.Q.2
Van der Steen, J.3
Mulders, J.4
Könst, A.A.M.5
Boor, P.K.I.6
Mejaski-Bosnjak, V.7
Van der Maarel, S.M.8
Frants, R.R.9
Oudejans, C.B.M.10
Schutgens, R.B.H.11
Pronk, J.C.12
Van der Knaap, M.S.13
-
13
-
-
0036523995
-
Identification of novel mutations in MLC1 responsible for megalencephalic leucoencephalopathy with subcortical cysts
-
Leegwater PAJ, Boor PKI, Yuan BQ, van der Steen J, Visser A, Könst AAM, Oudejans CBM, Schutgens RBH, Pronk JC, van der Knaap MS. 2002. Identification of novel mutations in MLC1 responsible for megalencephalic leucoencephalopathy with subcortical cysts. Hum Genet 110:279-283.
-
(2002)
Hum Genet
, vol.110
, pp. 279-283
-
-
Leegwater, P.A.J.1
Boor, P.K.I.2
Yuan, B.Q.3
Van der Steen, J.4
Visser, A.5
Könst, A.A.M.6
Oudejans, C.B.M.7
Schutgens, R.B.H.8
Pronk, J.C.9
Van der Knaap, M.S.10
-
15
-
-
0035991650
-
A novel polymorphism in exon 11 of the WKL1 gene, shows no association with schizophrenia
-
McQuillin A, Kalsi G, Moorey H, Lamb G, Mayet S, Quested D, Baker P, Curtis D, Gurling HM. 2002. A novel polymorphism in exon 11 of the WKL1 gene, shows no association with schizophrenia. Eur J Hum Genet 10: 491-494.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 491-494
-
-
McQuillin, A.1
Kalsi, G.2
Moorey, H.3
Lamb, G.4
Mayet, S.5
Quested, D.6
Baker, P.7
Curtis, D.8
Gurling, H.M.9
-
16
-
-
17744384259
-
A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree
-
Meyer J, Huberth A, Ortega G, Syagailo YV, Jatzke S, Mössner R, Strom T, Ulzheimer-Teuber I, Stöber G, Schmitt A, Lesch KP. 2001. A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree. Mol Psychiatry 6:304-308.
-
(2001)
Mol Psychiatry
, vol.6
, pp. 304-308
-
-
Meyer, J.1
Huberth, A.2
Ortega, G.3
Syagailo, Y.V.4
Jatzke, S.5
Mössner, R.6
Strom, T.7
Ulzheimer-Teuber, I.8
Stöber, G.9
Schmitt, A.10
Lesch, K.P.11
-
17
-
-
0026322751
-
Sex identification by polymerase chain reaction using X-Y homologous primer
-
Nakahori Y, Hamano K, Iwaya M, Nakagome Y. 1991. Sex identification by polymerase chain reaction using X-Y homologous primer. Am J Med Genet 39:472-473.
-
(1991)
Am J Med Genet
, vol.39
, pp. 472-473
-
-
Nakahori, Y.1
Hamano, K.2
Iwaya, M.3
Nakagome, Y.4
-
18
-
-
0033613865
-
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
-
Nishino I, Spinazzola A, Hirano M. 1999. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283:689-692.
-
(1999)
Science
, vol.283
, pp. 689-692
-
-
Nishino, I.1
Spinazzola, A.2
Hirano, M.3
-
19
-
-
0028685657
-
Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1
-
Nomura N, Miyajima N, Sazuka T, Tanaka A, Kawaarabayasi Y, Sato S, Nagase T, Seki N, Ishikawa KI, Tabata S. 1994. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. DNA Res 1:27-35.
-
(1994)
DNA Res
, vol.1
, pp. 27-35
-
-
Nomura, N.1
Miyajima, N.2
Sazuka, T.3
Tanaka, A.4
Kawaarabayasi, Y.5
Sato, S.6
Nagase, T.7
Seki, N.8
Ishikawa, K.I.9
Tabata, S.10
-
20
-
-
0032699506
-
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a OX assembly gene
-
Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, Krishna S, Walker W, Selby J, Glerum DM, Van Coster R, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA. 1999. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a OX assembly gene. Nat Genet 23:333-337.
-
(1999)
Nat Genet
, vol.23
, pp. 333-337
-
-
Papadopoulou, L.C.1
Sue, C.M.2
Davidson, M.M.3
Tanji, K.4
Nishino, I.5
Sadlock, J.E.6
Krishna, S.7
Walker, W.8
Selby, J.9
Glerum, D.M.10
Van Coster, R.11
Lyon, G.12
Scalais, E.13
Lebel, R.14
Kaplan, P.15
Shanske, S.16
De Vivo, D.C.17
Bonilla, E.18
Hirano, M.19
DiMauro, S.20
Schon, E.A.21
more..
-
21
-
-
0028082293
-
Sequential strategy to identify a susceptibility gene for schizophrenia: Report of potential linkage on chromosome 22q12-q13.1. Part 1
-
Pulver AE, Karayiorgou M, Wolyniec PS, Lasseter VK, Kasch L, Nestadt G, Antonarakis S, Housman D, Kazazian HH, Meyers D, Ott J, Lamacz M, Liang KY, Hanfeldt J, Ullrich G, DeMarchi N, Ramu E, McHugh PR, Adler L, Thomas M, Carpenter WT, Manschreck T, Gordon CT, Kimberland M, Babb R, Puck J, Childs B. 1994. Sequential strategy to identify a susceptibility gene for schizophrenia: report of potential linkage on chromosome 22q12-q13.1. Part 1. Am J Med Genet 54:36-43.
-
(1994)
Am J Med Genet
, vol.54
, pp. 36-43
-
-
Pulver, A.E.1
Karayiorgou, M.2
Wolyniec, P.S.3
Lasseter, V.K.4
Kasch, L.5
Nestadt, G.6
Antonarakis, S.7
Housman, D.8
Kazazian, H.H.9
Meyers, D.10
Ott, J.11
Lamacz, M.12
Liang, K.Y.13
Hanfeldt, J.14
Ullrich, G.15
DeMarchi, N.16
Ramu, E.17
McHugh, P.R.18
Adler, L.19
Thomas, M.20
Carpenter, W.T.21
Manschreck, T.22
Gordon, C.T.23
Kimberland, M.24
Babb, R.25
Puck, J.26
Childs, B.27
more..
-
24
-
-
0033754079
-
Splitting schizophrenia: Periodic catatonia-susceptibility locus on chromosome 15q15
-
Stöber G, Saar K, Rüschendorf F, Meyer J, Nfirnberg G, Jatzke S, Franzek E, Reis A, Lesch KP, Wienker TF, Beckmann H. 2000. Splitting schizophrenia: periodic catatonia-susceptibility locus on chromosome 15q15. Am J Hum Genet 67: 1201-1207.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1201-1207
-
-
Stöber, G.1
Saar, K.2
Rüschendorf, F.3
Meyer, J.4
Nfirnberg, G.5
Jatzke, S.6
Franzek, E.7
Reis, A.8
Lesch, K.P.9
Wienker, T.F.10
Beckmann, H.11
-
25
-
-
0034976025
-
Towards the genetic basis of periodic catatonia: Pedigree sample for genome scan I and II
-
Stöber G, Pfuhlmann B, Niirnberg G, Schmidtke A, Reis A, Franzek E, Wienker TE 2001. Towards the genetic basis of periodic catatonia: pedigree sample for genome scan I and II. Eur Arch Psychiatr Clin Neurosci 251(Suppl 1): 25-30.
-
(2001)
Eur Arch Psychiatr Clin Neurosci
, vol.251
, Issue.SUPPL. 1
, pp. 25-30
-
-
Stöber, G.1
Pfuhlmann, B.2
Niirnberg, G.3
Schmidtke, A.4
Reis, A.5
Franzek, E.6
Wienker, T.E.7
-
26
-
-
0031976193
-
Megalencephaly and leukodystrophy with mild clinical course: A report on 12 new cases
-
Topçu M, Saatci I, Topcuoglu MA, Kose G, Kunak B. 1998. Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases. Brain Dev 20:142-153.
-
(1998)
Brain Dev
, vol.20
, pp. 142-153
-
-
Topçu, M.1
Saatci, I.2
Topcuoglu, M.A.3
Kose, G.4
Kunak, B.5
-
27
-
-
0033929762
-
tel
-
tel Am J Hum Genet 66:733-739.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 733-739
-
-
Topçu, M.1
Gartioux, C.2
Ribierre, F.3
Yalginkaya, C.4
Tokus, E.5
Öztekin, N.6
Beckmann, J.S.7
Ozguc, M.8
Seboun, E.9
-
28
-
-
0028962204
-
Leucoencephalopathy with swelling and a discrepantly mild clinical course in eight children
-
van der Knaap MS, Barth PG, Stroink H, van Nieuwenhuizen O, Arts WF, Hoogenraad F, Valk J. 1995. Leucoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol 37:324-334.
-
(1995)
Ann Neurol
, vol.37
, pp. 324-334
-
-
Van der Knaap, M.S.1
Barth, P.G.2
Stroink, H.3
Van Nieuwenhuizen, O.4
Arts, W.F.5
Hoogenraad, F.6
Valk, J.7
-
29
-
-
0029973244
-
Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course
-
van der Knaap MS, Barth PG, Vrensen GF, Valk J. 1996. Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course. Acta Neuropathol 92:206-212.
-
(1996)
Acta Neuropathol
, vol.92
, pp. 206-212
-
-
Van der Knaap, M.S.1
Barth, P.G.2
Vrensen, G.F.3
Valk, J.4
|