-
1
-
-
0029026984
-
ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): Investigation of heterochromatin abnormalities and review of clinical outcome
-
Brown DC, Grace E, Sumner AT, Edmunds AT, Ellis PM (1995) ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome. Hum Genet 96: 411-416
-
(1995)
Hum Genet
, vol.96
, pp. 411-416
-
-
Brown, D.C.1
Grace, E.2
Sumner, A.T.3
Edmunds, A.T.4
Ellis, P.M.5
-
2
-
-
0028782810
-
Human genetic map: Genome maps. V. Wall chart
-
Buetow KH, Ludwigsen S, Scherpbier-Heddema T, Quillen J, Murray JC, Sheffield VC, Duyk GM, et al (1994) Human genetic map: genome maps. V. Wall chart. Science 265: 2055-2070
-
(1994)
Science
, vol.265
, pp. 2055-2070
-
-
Buetow, K.H.1
Ludwigsen, S.2
Scherpbier-Heddema, T.3
Quillen, J.4
Murray, J.C.5
Sheffield, V.C.6
Duyk, G.M.7
-
3
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Faure, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
-
4
-
-
0029133507
-
Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome: Report of two new patients and review of the literature
-
Franceschini P, Martino S, Ciocchini M, Ciuti E, Vardeu MP, Guala A, Signorile F, et al (1995) Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome: report of two new patients and review of the literature. Eur J Pediatr 154: 840-846
-
(1995)
Eur J Pediatr
, vol.154
, pp. 840-846
-
-
Franceschini, P.1
Martino, S.2
Ciocchini, M.3
Ciuti, E.4
Vardeu, M.P.5
Guala, A.6
Signorile, F.7
-
5
-
-
0000038810
-
Selective somatic pairing and fragility at 1q12 in a boy with common variable immunodeficiency: A new syndrome
-
Hultén M (1978) Selective somatic pairing and fragility at 1q12 in a boy with common variable immunodeficiency: a new syndrome. Clin Genet 14:294
-
(1978)
Clin Genet
, vol.14
, pp. 294
-
-
Hultén, M.1
-
6
-
-
0027286618
-
An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome
-
Jeanpierre M, Turleau C, Aurias A, Prieur M, Ledeist F, Fischer A, Viegas-Pequignot E (1993) An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome. Hum Molec Genet 2:731-735
-
(1993)
Hum Molec Genet
, vol.2
, pp. 731-735
-
-
Jeanpierre, M.1
Turleau, C.2
Aurias, A.3
Prieur, M.4
Ledeist, F.5
Fischer, A.6
Viegas-Pequignot, E.7
-
7
-
-
0028857541
-
Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping
-
Kruglyak L, Daly MJ, Lander ES (1995) Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet 56: 519-527
-
(1995)
Am J Hum Genet
, vol.56
, pp. 519-527
-
-
Kruglyak, L.1
Daly, M.J.2
Lander, E.S.3
-
8
-
-
0023239442
-
Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
-
Lander ES, Botstein D (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236: 1567-1570
-
(1987)
Science
, vol.236
, pp. 1567-1570
-
-
Lander, E.S.1
Botstein, D.2
-
10
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
11
-
-
0030847733
-
Undermethylation of Alu sequences in ICF syndrome: Molecular and in situ analysis
-
Miniou P, Bourc'his D, Molina Gomes D, Jeanpierre M, Viegas-Pequignot E (1997) Undermethylation of Alu sequences in ICF syndrome: molecular and in situ analysis. Cytogenet Cell Genet 77:308-313
-
(1997)
Cytogenet Cell Genet
, vol.77
, pp. 308-313
-
-
Miniou, P.1
Bourc'his, D.2
Molina Gomes, D.3
Jeanpierre, M.4
Viegas-Pequignot, E.5
-
12
-
-
17344368928
-
Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping
-
Neufeld EJ, Mandel H, Raz T, Szargel R, Yandava CN, Stagg A, Faure S, et al (1997) Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping. Am J Hum Genet 61:1335-1341
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1335-1341
-
-
Neufeld, E.J.1
Mandel, H.2
Raz, T.3
Szargel, R.4
Yandava, C.N.5
Stagg, A.6
Faure, S.7
-
13
-
-
0028829566
-
DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor
-
Schuffenhauer S, Bartsch O, Stumm M, Buchholz T, Petropoulou T, Kraft S, Belohradsky B, et al (1995) DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor. Hum Genet 96:562-571
-
(1995)
Hum Genet
, vol.96
, pp. 562-571
-
-
Schuffenhauer, S.1
Bartsch, O.2
Stumm, M.3
Buchholz, T.4
Petropoulou, T.5
Kraft, S.6
Belohradsky, B.7
-
14
-
-
0027989585
-
ICF syndrome: A new case and review of the literature
-
Smeets DFCM, Moog U, Weemaes CMR, Vaes-Peeters G, Merkx GFM, Niehof JP, Hamers G (1994) ICF syndrome: a new case and review of the literature. Hum Genet 94: 240-246
-
(1994)
Hum Genet
, vol.94
, pp. 240-246
-
-
Smeets, D.F.C.M.1
Moog, U.2
Weemaes, C.M.R.3
Vaes-Peeters, G.4
Merkx, G.F.M.5
Niehof, J.P.6
Hamers, G.7
-
15
-
-
16144365391
-
Homozygosity mapping of Hallervorder-Spatz syndrome to chromosome 20p12.3-p13
-
Taylor TD, Litt M, Kramer P, Pandolfo M, Angelini L, Nardocci N, Davis S, et al (1996) Homozygosity mapping of Hallervorder-Spatz syndrome to chromosome 20p12.3-p13. Nat Genet 14:479-481
-
(1996)
Nat Genet
, vol.14
, pp. 479-481
-
-
Taylor, T.D.1
Litt, M.2
Kramer, P.3
Pandolfo, M.4
Angelini, L.5
Nardocci, N.6
Davis, S.7
-
16
-
-
0030851777
-
True and false positive peaks in genomewide scans: Applications of length-biased sampling to linkage mapping
-
Terwilliger JD, Shannon WD, Lathrop GM, Nolan JP, Goldin LR, Chase GA, Weeks DE (1997) True and false positive peaks in genomewide scans: applications of length-biased sampling to linkage mapping. Am J Hum Genet 61:430-438
-
(1997)
Am J Hum Genet
, vol.61
, pp. 430-438
-
-
Terwilliger, J.D.1
Shannon, W.D.2
Lathrop, G.M.3
Nolan, J.P.4
Goldin, L.R.5
Chase, G.A.6
Weeks, D.E.7
-
17
-
-
0018672228
-
Multibranched chromosomes 1, 9 and 16 in a patient with combined Iga and IgE deficiency
-
Tiepolo L, Maraschio P, Gimelli G, Cuoco C, Gargani GF, Romano C (1979) Multibranched chromosomes 1, 9 and 16 in a patient with combined IgA and IgE deficiency. Hum Genet 51:127-137
-
(1979)
Hum Genet
, vol.51
, pp. 127-137
-
-
Tiepolo, L.1
Maraschio, P.2
Gimelli, G.3
Cuoco, C.4
Gargani, G.F.5
Romano, C.6
-
18
-
-
0020284631
-
Pharmacological and biochemical aspects of S-adenosylhomocysteine and S-adenosylhomocysteine hydrolase
-
Ueland PM (1982) Pharmacological and biochemical aspects of S-adenosylhomocysteine and S-adenosylhomocysteine hydrolase. Pharmacol Rev 34:223-253
-
(1982)
Pharmacol Rev
, vol.34
, pp. 223-253
-
-
Ueland, P.M.1
-
19
-
-
0023137370
-
Centromeric instability of chromosomes 1, 9 and 16 with variable immune deficiency: Support of a new syndrome
-
Valkova G, Ghenev E, Tzancheva M (1987) Centromeric instability of chromosomes 1, 9 and 16 with variable immune deficiency: support of a new syndrome. Clin Genet 31: 119-124
-
(1987)
Clin Genet
, vol.31
, pp. 119-124
-
-
Valkova, G.1
Ghenev, E.2
Tzancheva, M.3
-
20
-
-
0030922551
-
Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24
-
Wang C-Y, Hawkins-Lee B, Ochoa B, Walker RD, She J-X (1997) Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24. Am J Hum Genet 60: 1461-1467
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1461-1467
-
-
Wang, C.-Y.1
Hawkins-Lee, B.2
Ochoa, B.3
Walker, R.D.4
She, J.-X.5
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