-
1
-
-
0026518336
-
Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21
-
McGinniss M.J., Kazazian H.H., Stetten G., Petersen M.B., Boman H., Engel E., et al. Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21. Am J Hum Genet 1992, 50:15-28.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 15-28
-
-
McGinniss, M.J.1
Kazazian, H.H.2
Stetten, G.3
Petersen, M.B.4
Boman, H.5
Engel, E.6
-
2
-
-
0023278573
-
Familial transmission of a ring chromosome 21
-
Hertz J.M. Familial transmission of a ring chromosome 21. Clin Genet 1987, 32:35-39.
-
(1987)
Clin Genet
, vol.32
, pp. 35-39
-
-
Hertz, J.M.1
-
4
-
-
0025356492
-
Ring chromosome 21 transmitted from mother to daughter: its stability in a lymphoblastoid cell line
-
Ikeuchi T., Yamamoto K., Qiao F., Hayakawa K., Migita T., Nishikawa Y. Ring chromosome 21 transmitted from mother to daughter: its stability in a lymphoblastoid cell line. Ann Genet 1990, 33:32-35.
-
(1990)
Ann Genet
, vol.33
, pp. 32-35
-
-
Ikeuchi, T.1
Yamamoto, K.2
Qiao, F.3
Hayakawa, K.4
Migita, T.5
Nishikawa, Y.6
-
5
-
-
0025200807
-
Maternal transmission of ring chromosome 21
-
Kennerknecht I., Barbi G., Vogel W. Maternal transmission of ring chromosome 21. Hum Genet 1990, 86:99-101.
-
(1990)
Hum Genet
, vol.86
, pp. 99-101
-
-
Kennerknecht, I.1
Barbi, G.2
Vogel, W.3
-
6
-
-
0028947218
-
Prenatal diagnosis of familial ring 21 chromosome
-
Melnyk A.R., Ahmed I., Taylor J.C. Prenatal diagnosis of familial ring 21 chromosome. Prenat Diagn 1995, 15:269-273.
-
(1995)
Prenat Diagn
, vol.15
, pp. 269-273
-
-
Melnyk, A.R.1
Ahmed, I.2
Taylor, J.C.3
-
7
-
-
0037100088
-
Ring chromosome 21 in a boy and a derivative chromosome 21 in the mother: implication for ring chromosome formation
-
Muroya K., Yamamoto K., Fukushima Y., Ogata T. Ring chromosome 21 in a boy and a derivative chromosome 21 in the mother: implication for ring chromosome formation. Am J Med Genet 2002, 110:332-337.
-
(2002)
Am J Med Genet
, vol.110
, pp. 332-337
-
-
Muroya, K.1
Yamamoto, K.2
Fukushima, Y.3
Ogata, T.4
-
8
-
-
0023279284
-
Ring chromosome 21 in the mother and 21/21 translocation in the fetus: karyotype: 45, XX,-21,-21,+t(21;21)(p11;q11)
-
Fryns J.-P., Kleczkowska A. Ring chromosome 21 in the mother and 21/21 translocation in the fetus: karyotype: 45, XX,-21,-21,+t(21;21)(p11;q11). Ann Génét 1987, 30:109-110.
-
(1987)
Ann Génét
, vol.30
, pp. 109-110
-
-
Fryns, J.-P.1
Kleczkowska, A.2
-
9
-
-
0023232197
-
Tandem duplication chromosome 21 in the offspring of a ring chromosome 21 carrier
-
Miller K., Reimer A., Schulze B. Tandem duplication chromosome 21 in the offspring of a ring chromosome 21 carrier. Ann Génét 1987, 30:180-182.
-
(1987)
Ann Génét
, vol.30
, pp. 180-182
-
-
Miller, K.1
Reimer, A.2
Schulze, B.3
-
10
-
-
55149090741
-
Ring chromosome 21 and reproductive pattern: a familial case and review of the literature
-
Bertini V., Valetto A., Uccelli A., Tarantino E., Simi P. Ring chromosome 21 and reproductive pattern: a familial case and review of the literature. Fertil Steril 2008 2004, 90:e1-e5.
-
(2004)
Fertil Steril 2008
, vol.90
-
-
Bertini, V.1
Valetto, A.2
Uccelli, A.3
Tarantino, E.4
Simi, P.5
-
11
-
-
61349200131
-
Sperm chromosome analysis of an infertile patient with a 95% mosaic r(21) karyotype and normal phenotype
-
Hammoud I., Gomes D.M., Bergere M., Wainer R., Selva J., Vialard F. Sperm chromosome analysis of an infertile patient with a 95% mosaic r(21) karyotype and normal phenotype. Fertil Steril 2009, 91:930e13-930e15.
-
(2009)
Fertil Steril
, vol.91
-
-
Hammoud, I.1
Gomes, D.M.2
Bergere, M.3
Wainer, R.4
Selva, J.5
Vialard, F.6
-
12
-
-
0021716453
-
Prenatal detection of an unstable ring 21 chromosome
-
Stetten G., Sroka B., Corson V.L., Boehm C.D. Prenatal detection of an unstable ring 21 chromosome. Hum Genet 1984, 68:310-313.
-
(1984)
Hum Genet
, vol.68
, pp. 310-313
-
-
Stetten, G.1
Sroka, B.2
Corson, V.L.3
Boehm, C.D.4
-
13
-
-
77952757378
-
A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth
-
Papoulidis I., Manolakos E., Siomou E., Kefalas K., Thomaidis L., Liehr T., et al. A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth. Prenat Diagn 2010, 30:586-588.
-
(2010)
Prenat Diagn
, vol.30
, pp. 586-588
-
-
Papoulidis, I.1
Manolakos, E.2
Siomou, E.3
Kefalas, K.4
Thomaidis, L.5
Liehr, T.6
-
14
-
-
78149299463
-
Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and disomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization
-
Chen C.-P., Guo Y.-T., Lin S.-P., Su Y.-N., Chen Y.-J., Hseuh R.-Y., et al. Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and disomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization. Taiwan J Obstet Gynecol 2010, 49:327-332.
-
(2010)
Taiwan J Obstet Gynecol
, vol.49
, pp. 327-332
-
-
Chen, C.-P.1
Guo, Y.-T.2
Lin, S.-P.3
Su, Y.-N.4
Chen, Y.-J.5
Hseuh, R.-Y.6
-
15
-
-
70349095592
-
Role of glial cell line-derived neurotrophic factor (GDNF)-neural cell adhesion molecule (NCAM) interactions in induction of neurite outgrowth and indentification of a binding site for NCAM in the heel region of GDNF
-
Nielsen J., Gotfryd K., Li S., Kulahin N., Soroka V., Rasmussen K.K., et al. Role of glial cell line-derived neurotrophic factor (GDNF)-neural cell adhesion molecule (NCAM) interactions in induction of neurite outgrowth and indentification of a binding site for NCAM in the heel region of GDNF. J Neurosci 2009, 29:11360-11376.
-
(2009)
J Neurosci
, vol.29
, pp. 11360-11376
-
-
Nielsen, J.1
Gotfryd, K.2
Li, S.3
Kulahin, N.4
Soroka, V.5
Rasmussen, K.K.6
-
16
-
-
77949899110
-
The neural cell adhesion molecule NCAM2/OCAM/RNCAM, a close relative to NCAM
-
Kulahin N., Walmod P.S. The neural cell adhesion molecule NCAM2/OCAM/RNCAM, a close relative to NCAM. Adv Exp Med Biol 2010, 663:403-420.
-
(2010)
Adv Exp Med Biol
, vol.663
, pp. 403-420
-
-
Kulahin, N.1
Walmod, P.S.2
-
17
-
-
23744485061
-
Evidence for linkage on 21q and 7q in a subset of autism characterized by developmental regression
-
Molloy C.A., Keddache M., Martin L.J. Evidence for linkage on 21q and 7q in a subset of autism characterized by developmental regression. Mol Psychiatry 2005, 10:741-746.
-
(2005)
Mol Psychiatry
, vol.10
, pp. 741-746
-
-
Molloy, C.A.1
Keddache, M.2
Martin, L.J.3
-
18
-
-
75149156576
-
A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21
-
Haldeman-Englert C.R., Chapman K.A., Kruger H., Geiger E.A., McDonald-McGinn D.M., Rappaport E., et al. A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21. Am J Med Genet 2010, 152A:196-202.
-
(2010)
Am J Med Genet
, vol.152 A
, pp. 196-202
-
-
Haldeman-Englert, C.R.1
Chapman, K.A.2
Kruger, H.3
Geiger, E.A.4
McDonald-McGinn, D.M.5
Rappaport, E.6
-
19
-
-
79953300700
-
Ring 21 chromosome presenting with epilepsy and intellectual disability: clinical report and review of the literature
-
Specchio N., Carotenuto A., Trivisano M., Cappelletti S., Digilio C., Capolino R., et al. Ring 21 chromosome presenting with epilepsy and intellectual disability: clinical report and review of the literature. Am J Med Genet 2011, 155A:911-914.
-
(2011)
Am J Med Genet
, vol.155 A
, pp. 911-914
-
-
Specchio, N.1
Carotenuto, A.2
Trivisano, M.3
Cappelletti, S.4
Digilio, C.5
Capolino, R.6
-
20
-
-
77955661596
-
Deficiencies in the region syntenic to human 21q22.3 cause cognitive deficits in mice
-
Yu T., Clapcote S.J., Li Z., Liu C., Pao A., Bechard A.R., et al. Deficiencies in the region syntenic to human 21q22.3 cause cognitive deficits in mice. Mamm Genome 2010, 21:258-267.
-
(2010)
Mamm Genome
, vol.21
, pp. 258-267
-
-
Yu, T.1
Clapcote, S.J.2
Li, Z.3
Liu, C.4
Pao, A.5
Bechard, A.R.6
-
21
-
-
31544472602
-
Fine mapping of a susceptibility locus for bipolar and genetically related unipolar affective disorders, to a region containing the C21ORF29 and TRPM2 genes on chromosome 21q22.3
-
McQuillin A., Bass N.J., Kalsi G., Lawrence J., Puri V., Choudhury K., et al. Fine mapping of a susceptibility locus for bipolar and genetically related unipolar affective disorders, to a region containing the C21ORF29 and TRPM2 genes on chromosome 21q22.3. Mol Psychiatry 2006, 11:134-142.
-
(2006)
Mol Psychiatry
, vol.11
, pp. 134-142
-
-
McQuillin, A.1
Bass, N.J.2
Kalsi, G.3
Lawrence, J.4
Puri, V.5
Choudhury, K.6
-
22
-
-
33846160926
-
Molecular genetics of bipolar disorder and depression
-
Kato T. Molecular genetics of bipolar disorder and depression. Psychiatry Clin Neurosci 2007, 61:3-19.
-
(2007)
Psychiatry Clin Neurosci
, vol.61
, pp. 3-19
-
-
Kato, T.1
-
23
-
-
58849148546
-
Identification of novel dyslexia candidate genes through the analysis of a chromosomal deletion
-
Poelmans G., Engelen J.J.M., Van Lent-Albrechts J., Smeets H.J., Schoenmakers E., Franke B., et al. Identification of novel dyslexia candidate genes through the analysis of a chromosomal deletion. Am J Med Genet B Neuropsychiatr Genet 2009, 150B:140-147.
-
(2009)
Am J Med Genet B Neuropsychiatr Genet
, vol.150 B
, pp. 140-147
-
-
Poelmans, G.1
Engelen, J.J.M.2
Van Lent-Albrechts, J.3
Smeets, H.J.4
Schoenmakers, E.5
Franke, B.6
-
24
-
-
4644293180
-
Dilated ascending aorta in a child with ring chromosome 21 syndrome
-
Rope A.F., Hinton R.B., Spicer R.L., Blough-Pfau R., Saal H.M. Dilated ascending aorta in a child with ring chromosome 21 syndrome. Am J Med Genet 2004, 130A:191-195.
-
(2004)
Am J Med Genet
, vol.130 A
, pp. 191-195
-
-
Rope, A.F.1
Hinton, R.B.2
Spicer, R.L.3
Blough-Pfau, R.4
Saal, H.M.5
-
25
-
-
0032733134
-
Structure of the human lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)
-
Roessler E., Mittaz L., Du Y., Scott H.S., Chang J., Rossier C., et al. Structure of the human lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1). Hum Genet 1999, 105:489-495.
-
(1999)
Hum Genet
, vol.105
, pp. 489-495
-
-
Roessler, E.1
Mittaz, L.2
Du, Y.3
Scott, H.S.4
Chang, J.5
Rossier, C.6
-
26
-
-
0141522809
-
Prenatal diagnosis of trisomy 18p and distal 21q22.3 deletion
-
Chen C.-P., Chern S.-R., Lee C.-C., Chen L.-F., Chin D.T.H., Tzen C.-Y., et al. Prenatal diagnosis of trisomy 18p and distal 21q22.3 deletion. Prenat Diagn 2003, 23:758-761.
-
(2003)
Prenat Diagn
, vol.23
, pp. 758-761
-
-
Chen, C.-P.1
Chern, S.-R.2
Lee, C.-C.3
Chen, L.-F.4
Chin, D.T.H.5
Tzen, C.-Y.6
-
27
-
-
33646053465
-
Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32→qter) and partial monosomy 21q (21q22.2→qter)
-
Chen C.-P., Chern S.-R., Lin C.-C., Wang T.-H., Li Y.-C., Hsieh L.-J., et al. Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32→qter) and partial monosomy 21q (21q22.2→qter). Prenat Diagn 2006, 26:313-320.
-
(2006)
Prenat Diagn
, vol.26
, pp. 313-320
-
-
Chen, C.-P.1
Chern, S.-R.2
Lin, C.-C.3
Wang, T.-H.4
Li, Y.-C.5
Hsieh, L.-J.6
-
28
-
-
73949139581
-
Detailed molecular and clinical characterization of three patients with 21q deletions
-
Lindstrand A., Malmgren H., Sahlén S., Schoumans J., Nordgren A., Ergander U., et al. Detailed molecular and clinical characterization of three patients with 21q deletions. Clin Genet 2010, 77:145-154.
-
(2010)
Clin Genet
, vol.77
, pp. 145-154
-
-
Lindstrand, A.1
Malmgren, H.2
Sahlén, S.3
Schoumans, J.4
Nordgren, A.5
Ergander, U.6
-
29
-
-
78651400015
-
Genomic analysis of partial 21q monosomies with variable phenotypes
-
Roberson E.D.O., Wohler E.S., Hoover-Fong J.E., Lisi E., Stevens E.L., Thomas G.H., et al. Genomic analysis of partial 21q monosomies with variable phenotypes. Eur J Hum Genet 2011, 19:235-238.
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 235-238
-
-
Roberson, E.D.O.1
Wohler, E.S.2
Hoover-Fong, J.E.3
Lisi, E.4
Stevens, E.L.5
Thomas, G.H.6
-
30
-
-
76149091554
-
Holoprosencephaly: an update on cytogenetic abnormalities
-
Bendavid C., Dupé V., Rochard L., Gicquel I., Dubourg C., David V. Holoprosencephaly: an update on cytogenetic abnormalities. Am J Med Genet C Semin Med Genet 2010, 154C:86-92.
-
(2010)
Am J Med Genet C Semin Med Genet
, vol.154 C
, pp. 86-92
-
-
Bendavid, C.1
Dupé, V.2
Rochard, L.3
Gicquel, I.4
Dubourg, C.5
David, V.6
-
31
-
-
0023133743
-
A male infant with holoprosencephaly, associated with ring chromosome 21
-
Aronson D.C., Jansweijer M.C., Hoovers J.M., Barth P.G. A male infant with holoprosencephaly, associated with ring chromosome 21. Clin Genet 1987, 31:48-52.
-
(1987)
Clin Genet
, vol.31
, pp. 48-52
-
-
Aronson, D.C.1
Jansweijer, M.C.2
Hoovers, J.M.3
Barth, P.G.4
-
32
-
-
0023412991
-
Holoprosencephaly associated with ring chromosome 21
-
Hoovers J.M.N., Jansweijer M.C.E. Holoprosencephaly associated with ring chromosome 21. Clin Genet 1987, 32:207-208.
-
(1987)
Clin Genet
, vol.32
, pp. 207-208
-
-
Hoovers, J.M.N.1
Jansweijer, M.C.E.2
-
33
-
-
0025372493
-
Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3)
-
Estabrooks L.L., Rao K.W., Donahue R.P., Aylsworth A.S. Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3). Am J Med Genet 1990, 36:306-309.
-
(1990)
Am J Med Genet
, vol.36
, pp. 306-309
-
-
Estabrooks, L.L.1
Rao, K.W.2
Donahue, R.P.3
Aylsworth, A.S.4
-
34
-
-
77956115904
-
Identification of genomic loci contributing to agenesis of the corpus callosum
-
O'Driscoll M.C., Black G.C.M., Clayton-Smith J., Sherr E.H., Dobyns W.B. Identification of genomic loci contributing to agenesis of the corpus callosum. Am J Med Genet 2010, 152A:2145-2159.
-
(2010)
Am J Med Genet
, vol.152 A
, pp. 2145-2159
-
-
O'Driscoll, M.C.1
Black, G.C.M.2
Clayton-Smith, J.3
Sherr, E.H.4
Dobyns, W.B.5
-
35
-
-
11144272564
-
De novo satellited 21q associated with corpus callosum dysgenesis, colpocephaly, a concealed penis, congenital heart defects, and developmental delay
-
Chen C.-P., Lin S.-P., Chern S.-R., Lee C.-C., Huang J.-K., Wang W., et al. De novo satellited 21q associated with corpus callosum dysgenesis, colpocephaly, a concealed penis, congenital heart defects, and developmental delay. Genet Couns 2004, 15:437-442.
-
(2004)
Genet Couns
, vol.15
, pp. 437-442
-
-
Chen, C.-P.1
Lin, S.-P.2
Chern, S.-R.3
Lee, C.-C.4
Huang, J.-K.5
Wang, W.6
-
36
-
-
0021894019
-
Duplication 12q24-qter in an infant with Dandy-Walker syndrome
-
MacDonald E.A., Holden J.J. Duplication 12q24-qter in an infant with Dandy-Walker syndrome. J Neurogenet 1985, 2:123-129.
-
(1985)
J Neurogenet
, vol.2
, pp. 123-129
-
-
MacDonald, E.A.1
Holden, J.J.2
-
37
-
-
29244446270
-
Ring chromosome 15: characterization by array CGH
-
Glass I.A., Rauen K.A., Chen E., Parkes J., Alberston D.G., Pinkel D., et al. Ring chromosome 15: characterization by array CGH. Hum Genet 2006, 118:611-617.
-
(2006)
Hum Genet
, vol.118
, pp. 611-617
-
-
Glass, I.A.1
Rauen, K.A.2
Chen, E.3
Parkes, J.4
Alberston, D.G.5
Pinkel, D.6
-
38
-
-
34247639066
-
Ring chromosome formation as a novel escape mechanism in a patient with inverted duplication terminal deletion
-
Knijnenburg J., van Haeringen A., Hansson K.B.M., Lankester A., Smit M.J.M., Belfroid R.D., et al. Ring chromosome formation as a novel escape mechanism in a patient with inverted duplication terminal deletion. Eur J Hum Genet 2007, 15:548-555.
-
(2007)
Eur J Hum Genet
, vol.15
, pp. 548-555
-
-
Knijnenburg, J.1
van Haeringen, A.2
Hansson, K.B.M.3
Lankester, A.4
Smit, M.J.M.5
Belfroid, R.D.6
-
39
-
-
40649085830
-
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation
-
Rossi E., Riegel M., Messa J., Gimelli S., Maraschio P., Ciccone R., et al. Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. J Med Genet 2008, 45:147-154.
-
(2008)
J Med Genet
, vol.45
, pp. 147-154
-
-
Rossi, E.1
Riegel, M.2
Messa, J.3
Gimelli, S.4
Maraschio, P.5
Ciccone, R.6
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