-
1
-
-
22844445143
-
A rapid microarray based whole genome analysis for detection of uniparental disomy
-
Altug-Teber O, Dufke A, Poths S, Mau-Holzmann UA, Bastepe M, Colleaux L, Cormier-Daire V, Eggermann T, Gillessen-Kaesbach G, Bonin M, Riess O. 2005. A rapid microarray based whole genome analysis for detection of uniparental disomy. Hum Mutat 26:153-159.
-
(2005)
Hum Mutat
, vol.26
, pp. 153-159
-
-
Altug-Teber, O.1
Dufke, A.2
Poths, S.3
Mau-Holzmann, U.A.4
Bastepe, M.5
Colleaux, L.6
Cormier-Daire, V.7
Eggermann, T.8
Gillessen-Kaesbach, G.9
Bonin, M.10
Riess, O.11
-
4
-
-
0025181455
-
Prader-Willi syndrome: Current understanding of cause and diagnosis
-
Butler MG. 1990. Prader-Willi syndrome: Current understanding of cause and diagnosis. Am J Med Genet 35:319-332.
-
(1990)
Am J Med Genet
, vol.35
, pp. 319-332
-
-
Butler, M.G.1
-
5
-
-
0031970998
-
Prader-willi and angelman syndromes. Disorders of genomic imprinting
-
Cassidy SB, Schwartz S. 1998. Prader-Willi and Angelman syndromes. Disorders of genomic imprinting. Medicine 77:140-151.
-
(1998)
Medicine
, vol.77
, pp. 140-151
-
-
Cassidy, S.B.1
Schwartz, S.2
-
6
-
-
0025364913
-
Does personality predict long-term outcome in depression?
-
Duggan CF, Lee AS, Murray RM. 1990. Does personality predict long-term outcome in depression? Br J Psychiatry 157:19-24.
-
(1990)
Br J Psychiatry
, vol.157
, pp. 19-24
-
-
Duggan, C.F.1
Lee, A.S.2
Murray, R.M.3
-
7
-
-
0028828555
-
Neuroticism: A vulnerability marker for depression evidence from a family study
-
Duggan C, Sham P, Lee A, Minne C, Murray R. 1995. Neuroticism: A vulnerability marker for depression evidence from a family study. J Affect Disord 35:139-143.
-
(1995)
J Affect Disord
, vol.35
, pp. 139-143
-
-
Duggan, C.1
Sham, P.2
Lee, A.3
Minne, C.4
Murray, R.5
-
8
-
-
0036258112
-
Uniparental disomy: Clinical indications for testing in growth retardation
-
Eggermann T, Zerres K, Eggermann K, Moore G, Wollmann HA. 2002. Uniparental disomy: Clinical indications for testing in growth retardation. Eur J Pediatr 161:305-312.
-
(2002)
Eur J Pediatr
, vol.161
, pp. 305-312
-
-
Eggermann, T.1
Zerres, K.2
Eggermann, K.3
Moore, G.4
Wollmann, H.A.5
-
9
-
-
0037383454
-
Linkage analysis of extremely discordant and concordant sibling pairs identifies quantitative-trait loci that influence variation in the human personality trait neuroticism
-
Fullerton J, Cubin M, Tiwari H, Wang C, Bomhra A, Davidson S, Miller S, Fairburn C, Goodwin G, Neale MC, Fiddy S, Mott R, Allison DB, Flint J. 2003. Linkage analysis of extremely discordant and concordant sibling pairs identifies quantitative-trait loci that influence variation in the human personality trait neuroticism. Am J Hum Genet 72:879-890.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 879-890
-
-
Fullerton, J.1
Cubin, M.2
Tiwari, H.3
Wang, C.4
Bomhra, A.5
Davidson, S.6
Miller, S.7
Fairburn, C.8
Goodwin, G.9
Neale, M.C.10
Fiddy, S.11
Mott, R.12
Allison, D.B.13
Flint, J.14
-
10
-
-
0024517348
-
Premorbid personality assessments of first onset of major depression
-
Hirschfeld RM, Klerman GL, Lavori P, Keller MB, Griffith P, Coryell W. 1989. Premorbid personality assessments of first onset of major depression. Arch Gen Psychiatry 46:345-350.
-
(1989)
Arch Gen Psychiatry
, vol.46
, pp. 345-350
-
-
Hirschfeld, R.M.1
Klerman, G.L.2
Lavori, P.3
Keller, M.B.4
Griffith, P.5
Coryell, W.6
-
11
-
-
0024784245
-
The structured interview for schizotypy (SIS): A preliminary report
-
Kendler KS, Lieberman JA, Walsh D. 1989. The Structured Interview for Schizotypy (SIS): a preliminary report. Schizophr Bull 15:559-571.
-
(1989)
Schizophr Bull
, vol.15
, pp. 559-571
-
-
Kendler, K.S.1
Lieberman, J.A.2
Walsh, D.3
-
12
-
-
0034890364
-
Complex and segmental uniparental disomy (UPD): Review and lessons from rare chromosomal complements
-
Kotzot D. 2001. Complex and segmental uniparental disomy (UPD): Review and lessons from rare chromosomal complements. J Med Genet 38:497-507.
-
(2001)
J Med Genet
, vol.38
, pp. 497-507
-
-
Kotzot, D.1
-
13
-
-
0029162269
-
Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis
-
Ledbetter DH, Engel E. 1995. Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 4:1757-1764.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1757-1764
-
-
Ledbetter, D.H.1
Engel, E.2
-
14
-
-
0001463761
-
An individual with maternal disomy of chromosome 4 and iso(4p), iso (4q)
-
Lindenbaum RH, Woods CG, Norbury CG, Povey S, Ryslecki G. 1991. An individual with maternal disomy of chromosome 4 and iso(4p), iso (4q). Am J Med Genet 49(Suppl 285):1582.
-
(1991)
Am J Med Genet
, vol.49
, Issue.SUPPL. 285
, pp. 1582
-
-
Lindenbaum, R.H.1
Woods, C.G.2
Norbury, C.G.3
Povey, S.4
Ryslecki, G.5
-
15
-
-
2342635193
-
Genomewide linkage analysis of bipolar disorder by use of a high-density single-nucleotide-polymorphism (SNP) genotyping assay: A comparison with microsatellite marker assays and finding of significant linkage to chromosome 6q22
-
Middleton FA, Pato MT, Gentile KL, Morley CP, Zhao X, Eisener AF, Brown A, Petryshen TL, Kirby AN, Medeiros H, Carvalho C, Macedo A, Dourado A, Coelho I, Valente J, Soares MJ, Ferreira CP, Lei M, Azevedo MH, Kennedy JL, Daly MJ, Sklar P, Pato CN. 2004. Genomewide linkage analysis of bipolar disorder by use of a high-density single-nucleotide-polymorphism (SNP) genotyping assay: A comparison with microsatellite marker assays and finding of significant linkage to chromosome 6q22. Am J Hum Genet 74:886-897.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 886-897
-
-
Middleton, F.A.1
Pato, M.T.2
Gentile, K.L.3
Morley, C.P.4
Zhao, X.5
Eisener, A.F.6
Brown, A.7
Petryshen, T.L.8
Kirby, A.N.9
Medeiros, H.10
Carvalho, C.11
Macedo, A.12
Dourado, A.13
Coelho, I.14
Valente, J.15
Soares, M.J.16
Ferreira, C.P.17
Lei, M.18
Azevedo, M.H.19
Kennedy, J.L.20
Daly, M.J.21
Sklar, P.22
Pato, C.N.23
more..
-
16
-
-
0028134880
-
Diagnostic interview for genetic studies. Rationale, unique features, and training. NIMH genetics initiative
-
Nurnberger JI Jr, Blehar MC, Kaufmann CA, York-Cooler C, Simpson SG, Harkavy-Friedman J, Severe JB, Malaspina D, Reich T. 1994. Diagnostic interview for genetic studies. Rationale, unique features, and training. NIMH Genetics Initiative. Arch Gen Psychiatry 51:849-859.
-
(1994)
Arch Gen Psychiatry
, vol.51
, pp. 849-859
-
-
Nurnberger Jr., J.I.1
Blehar, M.C.2
Kaufmann, C.A.3
York-Cooler, C.4
Simpson, S.G.5
Harkavy-Friedman, J.6
Severe, J.B.7
Malaspina, D.8
Reich, T.9
-
17
-
-
11144354246
-
Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder: Fine mapping adds support on chromosomes 6 and 11
-
Pato CN, Pato MT, Kirby A, Petryshen TL, Medeiros H, Carvalho C, Macedo A, Dourado A, Coelho I, Valente J, Soares MJ, Ferreira CP, Lei M, Verner A, Hudson TJ, Morley CP, Kennedy JL, Azevedo MH, Daly MJ, Sklar P. 2004. Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder: fine mapping adds support on chromosomes 6 and 11. Am J Med Genet B Neuropsychiatr Genet 127B:30-34.
-
(2004)
Am J Med Genet B Neuropsychiatr Genet
, vol.127 B
, pp. 30-34
-
-
Pato, C.N.1
Pato, M.T.2
Kirby, A.3
Petryshen, T.L.4
Medeiros, H.5
Carvalho, C.6
Macedo, A.7
Dourado, A.8
Coelho, I.9
Valente, J.10
Soares, M.J.11
Ferreira, C.P.12
Lei, M.13
Verner, A.14
Hudson, T.J.15
Morley, C.P.16
Kennedy, J.L.17
Azevedo, M.H.18
Daly, M.J.19
Sklar, P.20
more..
-
18
-
-
0029648026
-
Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish county
-
Petersen MB, Brondum-Nielsen K, Hansen LK, Wulff K. 1995. Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish county. Am J Med Genet 60:261-262.
-
(1995)
Am J Med Genet
, vol.60
, pp. 261-262
-
-
Petersen, M.B.1
Brondum-Nielsen, K.2
Hansen, L.K.3
Wulff, K.4
-
19
-
-
2542435173
-
A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R
-
Ramanathan S, Woodroffe A, Flodman PL, Mays LZ, Hanouni M, Modahl CB, Steinberg-Epstein R, Bocian ME, Spence MA, Smith M. 2004. A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R. BMC Med Genet 5:10.
-
(2004)
BMC Med Genet
, vol.5
, pp. 10
-
-
Ramanathan, S.1
Woodroffe, A.2
Flodman, P.L.3
Mays, L.Z.4
Hanouni, M.5
Modahl, C.B.6
Steinberg-Epstein, R.7
Bocian, M.E.8
Spence, M.A.9
Smith, M.10
-
20
-
-
0025606738
-
Personality variables in depressed patients and normal controls
-
Roy A. 1991. Personality variables in depressed patients and normal controls. Neuropsychobiology 23:119-123.
-
(1991)
Neuropsychobiology
, vol.23
, pp. 119-123
-
-
Roy, A.1
-
21
-
-
7744228812
-
Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aalpha-chain gene
-
Spena S, Duga S, Asselta R, Peyvandi F, Mahasandana C, Malcovati M, Tenchini ML. 2004. Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aalpha-chain gene. Eur J Hum Genet 12:891-898.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 891-898
-
-
Spena, S.1
Duga, S.2
Asselta, R.3
Peyvandi, F.4
Mahasandana, C.5
Malcovati, M.6
Tenchini, M.L.7
-
22
-
-
12244283127
-
First patient with trisomy 21 accompanied by an additional der(4)(:p11→q11:) plus partial uniparental disomy 4p15-16
-
Starke H, Mitulla B, Nietzel A, Heller A, Beensen V, Grosswendt G, Claussen U, von Eggeling F, Liehr T. 2003. First patient with trisomy 21 accompanied by an additional der(4)(:p11→q11:) plus partial uniparental disomy 4p15-16. Am J Med Genet A 116A:26-30.
-
(2003)
Am J Med Genet A
, vol.116 A
, pp. 26-30
-
-
Starke, H.1
Mitulla, B.2
Nietzel, A.3
Heller, A.4
Beensen, V.5
Grosswendt, G.6
Claussen, U.7
Von Eggeling, F.8
Liehr, T.9
-
23
-
-
0023873210
-
Enduring deficits after remissions of depression: A test of the scar hypothesis
-
Zeiss AM, Lewinsohn PM. 1988. Enduring deficits after remissions of depression: A test of the scar hypothesis. Behav Res Ther 26:151-158.
-
(1988)
Behav Res Ther
, vol.26
, pp. 151-158
-
-
Zeiss, A.M.1
Lewinsohn, P.M.2
|