-
1
-
-
0028271635
-
Congenital ocular defect associated with an abnormality of the human chromosome 1: Trisomy 1q32-qter
-
Clark BJ, Lowther GW, Lee WR. 1994. Congenital ocular defect associated with an abnormality of the human chromosome 1: Trisomy 1q32-qter. J Pediatr Ophtal Strab 31:41-45.
-
(1994)
J Pediatr Ophtal Strab
, vol.31
, pp. 41-45
-
-
Clark, B.J.1
Lowther, G.W.2
Lee, W.R.3
-
2
-
-
0030927755
-
Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridization in a boy with multiple malformations: Further delineation of the trisomy 1q syndrome
-
Duba H-C, Erdel M, Löffler J, Bereuther L, Fischer H, Utermann B, Utermann G. 1997. Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridization in a boy with multiple malformations: Further delineation of the trisomy 1q syndrome. J Med Genet 34:309-313.
-
(1997)
J Med Genet
, vol.34
, pp. 309-313
-
-
Duba, H.-C.1
Erdel, M.2
Löffler, J.3
Bereuther, L.4
Fischer, H.5
Utermann, B.6
Utermann, G.7
-
3
-
-
0018485655
-
Partial trisomy 1q due to tandem duplication
-
Flatz S, Fonatsch C. 1979. Partial trisomy 1q due to tandem duplication. J Clin Genet 15:541-542.
-
(1979)
J Clin Genet
, vol.15
, pp. 541-542
-
-
Flatz, S.1
Fonatsch, C.2
-
4
-
-
0029815123
-
Proximal trisomy 1q in a girl with developmental delay and minor anomalies
-
Furforo L, Rittler M, Slavutsky IR. 1996. Proximal trisomy 1q in a girl with developmental delay and minor anomalies. Am J Med Genet 64:551-555.
-
(1996)
Am J Med Genet
, vol.64
, pp. 551-555
-
-
Furforo, L.1
Rittler, M.2
Slavutsky, I.R.3
-
5
-
-
0025729840
-
Duplication of the distal part of the long arm of chromosome 1
-
Johnson V. 1991. Duplication of the distal part of the long arm of chromosome 1. Am J Med Genet 39:258-269.
-
(1991)
Am J Med Genet
, vol.39
, pp. 258-269
-
-
Johnson, V.1
-
6
-
-
0026495364
-
Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors
-
Kallioniemi O, Kallioniemi A, Sudar D, Rutovitz D, Gray J, Waldman F, Pinkel D. 1992. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 258:818-821.
-
(1992)
Science
, vol.258
, pp. 818-821
-
-
Kallioniemi, O.1
Kallioniemi, A.2
Sudar, D.3
Rutovitz, D.4
Gray, J.5
Waldman, F.6
Pinkel, D.7
-
7
-
-
0018950050
-
De novo duplication 1q32-q42: Variability of phenotypic features in partial 1q trisomics
-
Lungarotti MS, Falorni A, Calabro A, Passalacqua F, Dallapiccola B. 1979. De novo duplication 1q32-q42: Variability of phenotypic features in partial 1q trisomics. J Med Genet 17:398-402.
-
(1979)
J Med Genet
, vol.17
, pp. 398-402
-
-
Lungarotti, M.S.1
Falorni, A.2
Calabro, A.3
Passalacqua, F.4
Dallapiccola, B.5
-
8
-
-
0017644729
-
Partial trisomy 1 due to a "shift" and probable location of the Duffy (Fy) locus
-
Palmer CG, Christian JC, Merritt AD. 1977. Partial trisomy 1 due to a "shift" and probable location of the Duffy (Fy) locus. Am J Hum Genet 29:371-377.
-
(1977)
Am J Hum Genet
, vol.29
, pp. 371-377
-
-
Palmer, C.G.1
Christian, J.C.2
Merritt, A.D.3
-
9
-
-
0017603525
-
Meiotic consequences of an intrachromosomal insertion of chromosome No. 1: A family pedigree
-
Pan SF, Fatora SR, Sorg R, Garver KL, Steele MW. 1977. Meiotic consequences of an intrachromosomal insertion of chromosome No. 1: A family pedigree. Clin Genet 12:303-313.
-
(1977)
Clin Genet
, vol.12
, pp. 303-313
-
-
Pan, S.F.1
Fatora, S.R.2
Sorg, R.3
Garver, K.L.4
Steele, M.W.5
-
10
-
-
33646212239
-
Duplication 1q32q42 syndrome in a child with α-thalassemia trait
-
Ramesh KH, Wei D, Cheng L, Soni S, Green N, Cannizzaro LA. 2000. Duplication 1q32q42 syndrome in a child with α-thalassemia trait. Am J Hum Genet 67(Suppl 2) 125:A636.
-
(2000)
Am J Hum Genet
, vol.67
, Issue.125 SUPPL. 2
-
-
Ramesh, K.H.1
Wei, D.2
Cheng, L.3
Soni, S.4
Green, N.5
Cannizzaro, L.A.6
-
11
-
-
0032557722
-
Partial trisomy 1q with growth hormone deficiency and normal intelligence
-
Schorry EK, Dietrich KN, Saal HM, Blough RI, Dey S, Chernausek S, Milatovich-Cherry A. 1998. Partial trisomy 1q with growth hormone deficiency and normal intelligence. Am J Med Genet 77:257-260.
-
(1998)
Am J Med Genet
, vol.77
, pp. 257-260
-
-
Schorry, E.K.1
Dietrich, K.N.2
Saal, H.M.3
Blough, R.I.4
Dey, S.5
Chernausek, S.6
Milatovich-Cherry, A.7
-
12
-
-
0031762906
-
Boy with an interstitial 1q31q41 duplication confirmed by fluorescent in situ hybridization
-
Sillén A, Wadelius C, Annerén G. 1998. Boy with an interstitial 1q31q41 duplication confirmed by fluorescent in situ hybridization. Am J Med Genet 80:163-168.
-
(1998)
Am J Med Genet
, vol.80
, pp. 163-168
-
-
Sillén, A.1
Wadelius, C.2
Annerén, G.3
-
13
-
-
0017327864
-
Partial trisomy of the long arm of human chromosome 1 as demonstrated by in situ hybridization with 5S ribosomal RNA
-
Steffensen DM, Chu EHY, Speert DP, Wall PM, Meilinger K, Kelch RP. 1977. Partial trisomy of the long arm of human chromosome 1 as demonstrated by in situ hybridization with 5S ribosomal RNA. Hum Genet 36:25-33.
-
(1977)
Hum Genet
, vol.36
, pp. 25-33
-
-
Steffensen, D.M.1
Chu, E.H.Y.2
Speert, D.P.3
Wall, P.M.4
Meilinger, K.5
Kelch, R.P.6
-
14
-
-
0021288465
-
Trisomy 1q24 → 1q41 in two sibs with an insertion in an inverted chromosome 4
-
Stoll C, Roth M-P, Dott B. 1984. Trisomy 1q24 → 1q41 in two sibs with an insertion in an inverted chromosome 4. J Med Genet 21:133-135.
-
(1984)
J Med Genet
, vol.21
, pp. 133-135
-
-
Stoll, C.1
Roth, M.-P.2
Dott, B.3
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