-
2
-
-
0023617756
-
Partial deletion 21: Case report with biochemical studies and review
-
Carpenter NJ, Mayes JS, Say B, Wilsop DP (1986): Partial deletion 21: case report with biochemical studies and review. J Med Genet 24:706-709.
-
(1986)
J Med Genet
, vol.24
, pp. 706-709
-
-
Carpenter, N.J.1
Mayes, J.S.2
Say, B.3
Wilsop, D.P.4
-
3
-
-
0028277332
-
Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies
-
Courtens W, Peterson MB, Noel JC, Flament-Durand J, Van Regemorter N, Delneste D, Cochaux P, Verschraegen-Spae MR, Van Roy N, Speleman F, Koenig U, Vamos E (1994): Proximal deletion of chromosome 21 confirmed by In situ hybridization and molecular studies. Am J Med Genet 51:260-265.
-
(1994)
Am J Med Genet
, vol.51
, pp. 260-265
-
-
Courtens, W.1
Peterson, M.B.2
Noel, J.C.3
Flament-Durand, J.4
Van Regemorter, N.5
Delneste, D.6
Cochaux, P.7
Verschraegen-Spae, M.R.8
Van Roy, N.9
Speleman, F.10
Koenig, U.11
Vamos, E.12
-
5
-
-
0026750771
-
A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11
-
Driscoll D, Budarf ML, Emanuel BS (1992): A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11. Am J Hum Genet 50:924-933.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 924-933
-
-
Driscoll, D.1
Budarf, M.L.2
Emanuel, B.S.3
-
6
-
-
0026662962
-
Deletions and microdeletions of 22 q11.2: A genetic etiology for velo-cardio-facial syndrome
-
Driscoll DA, Spinner NB, Budarf ML, McDonald-McGinn DM, Zackai EH, Goldberg RB, Shprintzen RJ, Saal HM, Zonana J, Jones MC, Mascarello JT, Emanuel BS (1992): Deletions and microdeletions of 22 q11.2: A genetic etiology for velo-cardio-facial syndrome. Am J Med Genet 44:261-268.
-
(1992)
Am J Med Genet
, vol.44
, pp. 261-268
-
-
Driscoll, D.A.1
Spinner, N.B.2
Budarf, M.L.3
McDonald-McGinn, D.M.4
Zackai, E.H.5
Goldberg, R.B.6
Shprintzen, R.J.7
Saal, H.M.8
Zonana, J.9
Jones, M.C.10
Mascarello, J.T.11
Emanuel, B.S.12
-
7
-
-
0026321397
-
Report of the Committee on the Genetic Constitution of Chromosome 22
-
Emanuel BS, Budarf ML, Seizinger BR (1991): Report of the Committee on the Genetic Constitution of Chromosome 22. Cytogenet Cell Genet 58: 1-26.
-
(1991)
Cytogenet Cell Genet
, vol.58
, pp. 1-26
-
-
Emanuel, B.S.1
Budarf, M.L.2
Seizinger, B.R.3
-
8
-
-
0017895388
-
De novo simultaneous translocation and deletion
-
Fried K, Mundel G, Rosenblatt M (1978): De novo simultaneous translocation and deletion. J Med Genet 15:152-164.
-
(1978)
J Med Genet
, vol.15
, pp. 152-164
-
-
Fried, K.1
Mundel, G.2
Rosenblatt, M.3
-
9
-
-
0025092046
-
Analysis of human chromosome 21: Correlation of physical and cytogenetic maps:gene and CpG island distribution
-
Gardiner K, Horisberger M, Klaus J, Tantravahi U, Korenberg J, Rao V, Reddy S, Patterson D (1990): Analysis of human chromosome 21: Correlation of physical and cytogenetic maps:gene and CpG island distribution. EMBO J 9:25-34.
-
(1990)
EMBO J
, vol.9
, pp. 25-34
-
-
Gardiner, K.1
Horisberger, M.2
Klaus, J.3
Tantravahi, U.4
Korenberg, J.5
Rao, V.6
Reddy, S.7
Patterson, D.8
-
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
-
-
0021153338
-
Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high resolution chromosome banding
-
Ikeuchi T (1984): Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high resolution chromosome banding. Cytogenet Cell Genet 38:56-61.
-
(1984)
Cytogenet Cell Genet
, vol.38
, pp. 56-61
-
-
Ikeuchi, T.1
-
12
-
-
0025780858
-
Deletion of chromosome 21 and normal intelligence: Molecular definition of the lesion
-
Korenberg JK, Kalousek DK, Anneren G, Pulst SM, Hall JG, Epstein CE, Cox DR (1991): Deletion of chromosome 21 and normal intelligence: Molecular definition of the lesion. Hum Genet 87:112-118.
-
(1991)
Hum Genet
, vol.87
, pp. 112-118
-
-
Korenberg, J.K.1
Kalousek, D.K.2
Anneren, G.3
Pulst, S.M.4
Hall, J.G.5
Epstein, C.E.6
Cox, D.R.7
-
13
-
-
0028341315
-
Down syndrome phenotypes: The consequences of chromosomal imbalance
-
Korenberg JR, Chen X-N, Schipper R, Sun Z, Gonsky R, Gerwehr S, Carpenter N, Daumer C, Dignan P, Disteche C, Graham Jr. JM, Hugdins L, McGillivray B, Miyazaki K, Ogasawara N, Park JP, Pagon R, Pueschel S, Sack G, Say B, Schuffenhauer S, Soukup S, Yamanaka T (1994): Down syndrome phenotypes: The consequences of chromosomal imbalance. Proc Natl Acad Sci USA 91:4997-5001.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 4997-5001
-
-
Korenberg, J.R.1
Chen, X.-N.2
Schipper, R.3
Sun, Z.4
Gonsky, R.5
Gerwehr, S.6
Carpenter, N.7
Daumer, C.8
Dignan, P.9
Disteche, C.10
Graham Jr., J.M.11
Hugdins, L.12
McGillivray, B.13
Miyazaki, K.14
Ogasawara, N.15
Park, J.P.16
Pagon, R.17
Pueschel, S.18
Sack, G.19
Say, B.20
Schuffenhauer, S.21
Soukup, S.22
Yamanaka, T.23
more..
-
14
-
-
0028958734
-
De Novo tandem duplication of chromosome segment 22q11-q12: Clinical, cytogenetic, and molecular characterization
-
Lindsay EA, Shaffer LG, Carrozzo R, Greenberg F, Baldini A (1995): De Novo tandem duplication of chromosome segment 22q11-q12: Clinical, cytogenetic, and molecular characterization. Am J Med Genet 56:296-299.
-
(1995)
Am J Med Genet
, vol.56
, pp. 296-299
-
-
Lindsay, E.A.1
Shaffer, L.G.2
Carrozzo, R.3
Greenberg, F.4
Baldini, A.5
-
15
-
-
0020431163
-
Interstitial deletion of chromosome 21
-
Modi N, Buckton KE (1982): Interstitial deletion of chromosome 21. Clin Genet 22:215-219.
-
(1982)
Clin Genet
, vol.22
, pp. 215-219
-
-
Modi, N.1
Buckton, K.E.2
-
16
-
-
0029033626
-
Molecular definition of the 22q11 deletions in Velo-Cardio-Facial syndrome
-
Morrow B, Goldberg R, Carlson C, Gupta RD, Sirotkin H, Collins J, Dunham I, O'Donnell H, Scambler P, Shprintzen K, Kucherlapi R (1995): Molecular definition of the 22q11 deletions in Velo-Cardio-Facial syndrome. Am J Hum Genet 56:1391-1403.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1391-1403
-
-
Morrow, B.1
Goldberg, R.2
Carlson, C.3
Gupta, R.D.4
Sirotkin, H.5
Collins, J.6
Dunham, I.7
O'Donnell, H.8
Scambler, P.9
Shprintzen, K.10
Kucherlapi, R.11
-
17
-
-
0023198288
-
Free proximal trisomy without the Down syndrome
-
Park JP, Wurster-Hill DH, Andrews, PA, Cooley WC, Graham, JM (1987): Free proximal trisomy without the Down syndrome. Clin Genet 32: 342-348.
-
(1987)
Clin Genet
, vol.32
, pp. 342-348
-
-
Park, J.P.1
Wurster-Hill, D.H.2
Andrews, P.A.3
Cooley, W.C.4
Graham, J.M.5
-
18
-
-
0028965152
-
Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion
-
Prasher VP, Roberts E, Norman A, Butler AC, Krishnan VHR, McMullan DJ (1995): Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion. J Med Genet 32:306-308.
-
(1995)
J Med Genet
, vol.32
, pp. 306-308
-
-
Prasher, V.P.1
Roberts, E.2
Norman, A.3
Butler, A.C.4
Krishnan, V.H.R.5
McMullan, D.J.6
-
19
-
-
0021918837
-
De novo 21q deletion in a retarded boy with ulno-fibular dysostosis
-
Reynolds JF, Wyandt HE, Kelly TE (1985): De novo 21q deletion in a retarded boy with ulno-fibular dysostosis. Am J Med Genet 20:173-180.
-
(1985)
Am J Med Genet
, vol.20
, pp. 173-180
-
-
Reynolds, J.F.1
Wyandt, H.E.2
Kelly, T.E.3
-
20
-
-
0025280887
-
A familial interstitial deletion of the long arm of chromosome 21
-
Roland B, Cox DM, Hoar DI, Fowlow SB, Robertson AS (1990): A familial interstitial deletion of the long arm of chromosome 21. Clin Genet 37:423-428.
-
(1990)
Clin Genet
, vol.37
, pp. 423-428
-
-
Roland, B.1
Cox, D.M.2
Hoar, D.I.3
Fowlow, S.B.4
Robertson, A.S.5
-
21
-
-
0025796855
-
Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome
-
Scambler PJ, Carey AH, Wyse RK, Roach S, Dumanski JP, Nordenskjold M, Williamson R (1991): Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics 10:201-206.
-
(1991)
Genomics
, vol.10
, pp. 201-206
-
-
Scambler, P.J.1
Carey, A.H.2
Wyse, R.K.3
Roach, S.4
Dumanski, J.P.5
Nordenskjold, M.6
Williamson, R.7
-
22
-
-
0026511084
-
Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus
-
Scambler PJ, Kelly D, Lindsay E, Williamson R, Goldberg R, Shprintzen R, Wilson DI, Goodship JA, Cross IE, Burn J (1992): Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet 339:1138-1139.
-
(1992)
Lancet
, vol.339
, pp. 1138-1139
-
-
Scambler, P.J.1
Kelly, D.2
Lindsay, E.3
Williamson, R.4
Goldberg, R.5
Shprintzen, R.6
Wilson, D.I.7
Goodship, J.A.8
Cross, I.E.9
Burn, J.10
-
23
-
-
0017821181
-
A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo-cardio-facial syndrome
-
Shprintzen RJ, Goldberg RB, Lewin ML, Sidoti EJ, Berkman MD, Argamass RV, Young D (1978): A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J 15:56-62.
-
(1978)
Cleft Palate J
, vol.15
, pp. 56-62
-
-
Shprintzen, R.J.1
Goldberg, R.B.2
Lewin, M.L.3
Sidoti, E.J.4
Berkman, M.D.5
Argamass, R.V.6
Young, D.7
-
24
-
-
0002528624
-
Genetic risks of familial reciprocal and Robertsonian translocation carriers
-
Daniel A (ed): New York: Alan Liss
-
Stene J, Stengel-Rutkowski S (1988): Genetic risks of familial reciprocal and Robertsonian translocation carriers. In Daniel A (ed): "The Cytogenetics of Mammalian Autosomal Rearrangements." New York: Alan Liss, pp 3-72.
-
(1988)
The Cytogenetics of Mammalian Autosomal Rearrangements.
, pp. 3-72
-
-
Stene, J.1
Stengel-Rutkowski, S.2
-
25
-
-
0026758737
-
Putative monosomy 21 in two patients: Clinical findings and investigation using fluorescence in situ hybridization
-
Viljoen DL, Speleman F, Smart R, Van Roy N, du Toit J, Leroy J (1992): Putative monosomy 21 in two patients: Clinical findings and investigation using fluorescence in situ hybridization. Clin Genet 42:105-109.
-
(1992)
Clin Genet
, vol.42
, pp. 105-109
-
-
Viljoen, D.L.1
Speleman, F.2
Smart, R.3
Van Roy, N.4
Du Toit, J.5
Leroy, J.6
|