-
1
-
-
0025008535
-
Clinical diagnosis of partial duplication 7q
-
Bartsch O, Kalbe U, Ngo TK, Lettau R, Schwinger E. 1990. Clinical diagnosis of partial duplication 7q. Am J Med Genet 37: 254-257.
-
(1990)
Am J Med Genet
, vol.37
, pp. 254-257
-
-
Bartsch, O.1
Kalbe, U.2
Ngo, T.K.3
Lettau, R.4
Schwinger, E.5
-
2
-
-
0003849372
-
Multiple congenital anomalies and ambiguous genitalia in a child with trisomy 7q
-
Begleiter ML, Zalles C, Schwartz ID, Harris DJ, Pasztor LM. 1995. Multiple congenital anomalies and ambiguous genitalia in a child with trisomy 7q. Am J Hum Genet 57: A107.
-
(1995)
Am J Hum Genet
, vol.57
-
-
Begleiter, M.L.1
Zalles, C.2
Schwartz, I.D.3
Harris, D.J.4
Pasztor, L.M.5
-
3
-
-
0026090304
-
A malformed child with a recombinant chromosome 7, rec (7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36)
-
Delicado A, Escribano E, Pajares IL, Bustamante D, Carrasc A. 1991. A malformed child with a recombinant chromosome 7, rec (7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36). J Med Genet 28: 126-127.
-
(1991)
J Med Genet
, vol.28
, pp. 126-127
-
-
Delicado, A.1
Escribano, E.2
Pajares, I.L.3
Bustamante, D.4
Carrasc, A.5
-
4
-
-
0023707601
-
The phenotype of partial dup(7q) reconsidered: A report of five new cases
-
Forabosco A, Baroncini A, Dalpra L, Chessa L, Giannotti A. Maccagnam F, Dallapiccola B. 1988. The phenotype of partial dup(7q) reconsidered: a report of five new cases. Clin Genet 34: 48-59.
-
(1988)
Clin Genet
, vol.34
, pp. 48-59
-
-
Forabosco, A.1
Baroncini, A.2
Dalpra, L.3
Chessa, L.4
Giannotti, A.5
Maccagnam, F.6
Dallapiccola, B.7
-
5
-
-
0021839541
-
Minor Xp21 chromosome deletion in a male associated with expression of duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome
-
Francke U, Ochs HD, deMartinville B, Giacalone J, Lindgren V. Disteche C, Pagon RA, Hofker MH, Ommen GJBV, Pearson PL, Wedgwood RF. 1985. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet 37: 250.
-
(1985)
Am J Hum Genet
, vol.37
, pp. 250
-
-
Francke, U.1
Ochs, H.D.2
DeMartinville, B.3
Giacalone, J.4
Lindgren, V.5
Disteche, C.6
Pagon, R.A.7
Hofker, M.H.8
Ommen, G.J.B.V.9
Pearson, P.L.10
Wedgwood, R.F.11
-
6
-
-
0031772358
-
Inherited duplication Xq27-qter at Xp22.3 in severely affected males: Molecular cytogenetic evaluation and clinical description in three unrelated families
-
Goodman BK, Shaffer LG, Rutberg JR, Leppert M, Harum K, Gagos S, Ray JH, Bialer MG, Zhou X, Pletcher BA, Shapira SK, Geraghty MT. 1998. Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families. Am J Med Genet 80: 377-384.
-
(1998)
Am J Med Genet
, vol.80
, pp. 377-384
-
-
Goodman, B.K.1
Shaffer, L.G.2
Rutberg, J.R.3
Leppert, M.4
Harum, K.5
Gagos, S.6
Ray, J.H.7
Bialer, M.G.8
Zhou, X.9
Pletcher, B.A.10
Shapira, S.K.11
Geraghty, M.T.12
-
7
-
-
0026451619
-
De novo inverted duplication of chromosome 7q
-
Haslam JS, Norman AM. 1992. De novo inverted duplication of chromosome 7q. J Med Genet 29: 837-838.
-
(1992)
J Med Genet
, vol.29
, pp. 837-838
-
-
Haslam, J.S.1
Norman, A.M.2
-
8
-
-
0020451792
-
Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion
-
Hoo JJ, Lorenz R, Fischer A, Fuhrmann W. 1982. Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion. Hum Genet 62: 113-116.
-
(1982)
Hum Genet
, vol.62
, pp. 113-116
-
-
Hoo, J.J.1
Lorenz, R.2
Fischer, A.3
Fuhrmann, W.4
-
9
-
-
0030691898
-
Case report of rec(7)dup(7q)inv(7)(p22q22) and a review of the recombinants resulting from parental pericentric inversions on any chromosomes
-
Ishii F, Fujita H, Nagai A, Ogihara T, Kim H-S, Okamoto R, Mino M. 1997. Case report of rec(7)dup(7q)inv(7)(p22q22) and a review of the recombinants resulting from parental pericentric inversions on any chromosomes. Am J Med Genet 73: 290-295.
-
(1997)
Am J Med Genet
, vol.73
, pp. 290-295
-
-
Ishii, F.1
Fujita, H.2
Nagai, A.3
Ogihara, T.4
Kim, H.-S.5
Okamoto, R.6
Mino, M.7
-
10
-
-
0021710068
-
Pericentric inversion: Problems and significance for clinical genetics
-
Kaiser P. 1984. Pericentric inversion: problems and significance for clinical genetics. Hum Genet 68: 1-47.
-
(1984)
Hum Genet
, vol.68
, pp. 1-47
-
-
Kaiser, P.1
-
11
-
-
0002413867
-
De novo duplication of chromosome 7q
-
Kardon NB, Pollack L, Davis JG, Broekman A, Krauss M. 1980. De novo duplication of chromosome 7q. Am J Hum Genet 32: 75A.
-
(1980)
Am J Hum Genet
, vol.32
-
-
Kardon, N.B.1
Pollack, L.2
Davis, J.G.3
Broekman, A.4
Krauss, M.5
-
12
-
-
0020306096
-
Partial trisomy for the long arm of chromosome 7. Case report and review
-
Novales MA, Fernandez-Novoa C, Hevia A, San Martin V, Galera H. 1982. Partial trisomy for the long arm of chromosome 7. Case report and review. Hum Genet 62: 378-381.
-
(1982)
Hum Genet
, vol.62
, pp. 378-381
-
-
Novales, M.A.1
Fernandez-Novoa, C.2
Hevia, A.3
San Martin, V.4
Galera, H.5
-
13
-
-
0022446922
-
Cytogenetic analysis using quantitative, high sensitivity, fluorescence hybridization
-
Pinkel D, Straume T, Gray JW. 1986. Cytogenetic analysis using quantitative, high sensitivity, fluorescence hybridization. Proc Nat Acad Sci U S A 83: 2934-2938.
-
(1986)
Proc Nat Acad Sci U S A
, vol.83
, pp. 2934-2938
-
-
Pinkel, D.1
Straume, T.2
Gray, J.W.3
-
14
-
-
0025754749
-
Malformations in a child with dup(7pter-p15.1) and del(7q36-qter) as a result of familial pericentric inversion
-
Ramer JC, Mowrey PN, Ladda RL. 1991. Malformations in a child with dup(7pter-p15.1) and del(7q36-qter) as a result of familial pericentric inversion. Clin Genet 39: 442-450.
-
(1991)
Clin Genet
, vol.39
, pp. 442-450
-
-
Ramer, J.C.1
Mowrey, P.N.2
Ladda, R.L.3
-
15
-
-
0025101075
-
Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosme 7
-
Romain DR, Cairney H, Stewart D, Columbano-Green LM, Garry M, Parslow MI, Parfitt R, Smythe RH, Chapman CJ. 1990. Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosme 7. J Med Genet 27: 109-113.
-
(1990)
J Med Genet
, vol.27
, pp. 109-113
-
-
Romain, D.R.1
Cairney, H.2
Stewart, D.3
Columbano-Green, L.M.4
Garry, M.5
Parslow, M.I.6
Parfitt, R.7
Smythe, R.H.8
Chapman, C.J.9
-
16
-
-
0029932866
-
Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion
-
Shashi V, Golden WL, Allinson PS, Blanton SH, Kap-Herr CV, Kelly TE. 1996. Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion. Am J Hum Genet 58: 1231-1238.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1231-1238
-
-
Shashi, V.1
Golden, W.L.2
Allinson, P.S.3
Blanton, S.H.4
Kap-Herr, C.V.5
Kelly, T.E.6
-
17
-
-
0031031423
-
A paternally derived inverted duplication of 7q with evidence of a telomeric deletion
-
Stetten G, Charity L, Kasch L, Scott AF, Berman CL, Pressman E, Blakemore KJ. 1997. A paternally derived inverted duplication of 7q with evidence of a telomeric deletion. Am J Med Genet 68: 76-81.
-
(1997)
Am J Med Genet
, vol.68
, pp. 76-81
-
-
Stetten, G.1
Charity, L.2
Kasch, L.3
Scott, A.F.4
Berman, C.L.5
Pressman, E.6
Blakemore, K.J.7
-
18
-
-
0027312645
-
Interstitial duplication of 7(q22-q34)
-
Stratton RF, DuPont BR, Mattern VL, Schelonka RL, Moore C. 1993. Interstitial duplication of 7(q22-q34). Am J Med Genet 47: 380-382.
-
(1993)
Am J Med Genet
, vol.47
, pp. 380-382
-
-
Stratton, R.F.1
DuPont, B.R.2
Mattern, V.L.3
Schelonka, R.L.4
Moore, C.5
-
19
-
-
0026589393
-
Tandem duplication of the terminal band of the long arm of chromosome 7 (dir dup (7)(q36→qter))
-
Verma RS, Conte RA, Pitter JH. 1992. Tandem duplication of the terminal band of the long arm of chromosome 7 (dir dup (7)(q36→qter)). J Med Genet 29: 344-345.
-
(1992)
J Med Genet
, vol.29
, pp. 344-345
-
-
Verma, R.S.1
Conte, R.A.2
Pitter, J.H.3
-
20
-
-
0017876964
-
Meiotic analysis of a pericentric inversion, inv(7)(p22q32), in the father of a child with a duplication-deletion of chromosome 7
-
Winsor EJT, Palmer CG, Ellis PM, Hunter JLP, Ferguson-Smith MA. 1978. Meiotic analysis of a pericentric inversion, inv(7)(p22q32), in the father of a child with a duplication-deletion of chromosome 7. Cytogenet Cell Genet 20: 169-184.
-
(1978)
Cytogenet Cell Genet
, vol.20
, pp. 169-184
-
-
Winsor, E.J.T.1
Palmer, C.G.2
Ellis, P.M.3
Hunter, J.L.P.4
Ferguson-Smith, M.A.5
|