-
1
-
-
0017758429
-
"Complete 5p" trisomy: 1 Case and 19 translocation carriers in 6 generations
-
Brimblecombe FSW, Lewis FJ, Vowles M. 1977. "Complete 5p" trisomy: 1 case and 19 translocation carriers in 6 generations. J Med Genet 14: 271-274.
-
(1977)
J Med Genet
, vol.14
, pp. 271-274
-
-
Brimblecombe, F.S.W.1
Lewis, F.J.2
Vowles, M.3
-
2
-
-
0020378360
-
A clinical syndrome associated with dup (5p)
-
Carnevale A, Hernandez M, Limon-Toledo I, Frias S, Castillo J, del Castillo V. 1982. A clinical syndrome associated with dup (5p). Am J Med Genet 13:277-283.
-
(1982)
Am J Med Genet
, vol.13
, pp. 277-283
-
-
Carnevale, A.1
Hernandez, M.2
Limon-Toledo, I.3
Frias, S.4
Castillo, J.5
Del Castillo, V.6
-
3
-
-
0028911610
-
De novo dup (5p) in a patient with congenital hypoplasia of the adrenal gland
-
Chen H, Hoffman WH, Kusyk CJ, Tuck-Muller CM, Hoffman MG, Davis LS. 1995. De novo dup (5p) in a patient with congenital hypoplasia of the adrenal gland. J Med Genet 55:489-493.
-
(1995)
J Med Genet
, vol.55
, pp. 489-493
-
-
Chen, H.1
Hoffman, W.H.2
Kusyk, C.J.3
Tuck-Muller, C.M.4
Hoffman, M.G.5
Davis, L.S.6
-
4
-
-
0023103270
-
A case report of a de novo tandem duplication (5p)(p14-pter)
-
Chia NL, Bousfield LR, Johnson BH. 1987. A case report of a de novo tandem duplication (5p)(p14-pter). Clin Genet 31:65-69.
-
(1987)
Clin Genet
, vol.31
, pp. 65-69
-
-
Chia, N.L.1
Bousfield, L.R.2
Johnson, B.H.3
-
5
-
-
0027185655
-
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
-
Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, Stock AD, Leppert M, Keating MT. 1993. Hemizygosity at the elastin locus in a developmental disorder, Williams Syndrome. Nat Genet 5:11-16.
-
(1993)
Nat Genet
, vol.5
, pp. 11-16
-
-
Ewart, A.K.1
Morris, C.A.2
Atkinson, D.3
Jin, W.4
Sternes, K.5
Spallone, P.6
Stock, A.D.7
Leppert, M.8
Keating, M.T.9
-
6
-
-
0028234224
-
A new case of "complete" trisomy 5p with isochromosome 5p associated with a de novo translocation t(5;8)(q11;p23)
-
Fujita M, Flori E, Lemaire F, Casanova R, Astruc D. 1994. A new case of "complete" trisomy 5p with isochromosome 5p associated with a de novo translocation t(5;8)(q11;p23). Clin Genet 45:305-307.
-
(1994)
Clin Genet
, vol.45
, pp. 305-307
-
-
Fujita, M.1
Flori, E.2
Lemaire, F.3
Casanova, R.4
Astruc, D.5
-
7
-
-
0028001095
-
Identification of cryptic sites of DNA sequence amplification in human breast cancer by chromosome microdissection
-
Guan XY, Meltzer PS, Dalton WS, Trent JM. 1994. Identification of cryptic sites of DNA sequence amplification in human breast cancer by chromosome microdissection. Nat Genet 8:155-161.
-
(1994)
Nat Genet
, vol.8
, pp. 155-161
-
-
Guan, X.Y.1
Meltzer, P.S.2
Dalton, W.S.3
Trent, J.M.4
-
8
-
-
0023821552
-
Familial partial trisomy 5p resulting from segregation of an insertional translocation
-
Gustavson KH, Lundberg PO, Nicol P. 1988. Familial partial trisomy 5p resulting from segregation of an insertional translocation. Clin Genet 33:404-409.
-
(1988)
Clin Genet
, vol.33
, pp. 404-409
-
-
Gustavson, K.H.1
Lundberg, P.O.2
Nicol, P.3
-
9
-
-
0032169814
-
Partial tetrasomy with triplicaiton of chromosome (5) (p14-p15.33) in a patient with severe multiple congenital anomalies
-
Harrison KJ, Teshima IE, Silver MM, Jay V, Unger S, Robinson WP, James A, Levin A, Chitayat D. 1998. Partial tetrasomy with triplicaiton of chromosome (5) (p14-p15.33) in a patient with severe multiple congenital anomalies. Am J Med Genet 79:103-107.
-
(1998)
Am J Med Genet
, vol.79
, pp. 103-107
-
-
Harrison, K.J.1
Teshima, I.E.2
Silver, M.M.3
Jay, V.4
Unger, S.5
Robinson, W.P.6
James, A.7
Levin, A.8
Chitayat, D.9
-
10
-
-
0023221034
-
Trisomy of the short arm of chromosome 5: Autopsy data in a malformed newborn with inv dup (5)(p13.1-p15.3)
-
Kleczkowska A, Fryns JP, Moerman P, Vanden berghe K, Vandenberghe H. 1987. Trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with inv dup (5)(p13.1-p15.3). Clin Genet 32:49-56.
-
(1987)
Clin Genet
, vol.32
, pp. 49-56
-
-
Kleczkowska, A.1
Fryns, J.P.2
Moerman, P.3
Vanden Berghe, K.4
Vandenberghe, H.5
-
12
-
-
0344226428
-
Totale trisomie 5p bei mütterlicher balancierter translocation: 46, xx inv ins (1;5)(p32 oder 34;pter p11)
-
Stuttgart: Thieme
-
Kunze J, Johs R, Tolksdorf M. 1980. Totale Trisomie 5p bei mütterlicher balancierter Translocation: 46, XX inv ins (1;5)(p32 oder 34;pter p11). Klinische Genetik in der Pädiatrie 2. Stuttgart: Thieme. p. 201-202.
-
(1980)
Klinische Genetik in der Pädiatrie
, vol.2
, pp. 201-202
-
-
Kunze, J.1
Johs, R.2
Tolksdorf, M.3
-
13
-
-
0025785932
-
Apparent Opitz BBBG syndrome with a partial duplication of 5p
-
Leichtman LG, Werner A, Bass WT, Smith D, Brothman AR. 1991. Apparent Opitz BBBG syndrome with a partial duplication of 5p. Am J Med Genet 40:173-176.
-
(1991)
Am J Med Genet
, vol.40
, pp. 173-176
-
-
Leichtman, L.G.1
Werner, A.2
Bass, W.T.3
Smith, D.4
Brothman, A.R.5
-
14
-
-
75949134950
-
Ségrégation familiale d'une translocation 5-13 determinant une monosomie et une trisomie partielles du bras court du chromosome 5: Maladie de cri du chat et sa réciproque
-
Lejeune J, Lafourcade J, Berger R, Turpin R. 1964. Ségrégation familiale d'une translocation 5-13 determinant une monosomie et une trisomie partielles du bras court du chromosome 5: maladie de cri du chat et sa réciproque. CR Acad Sci (III)258:5767-5770.
-
(1964)
CR Acad Sci (III)
, vol.258
, pp. 5767-5770
-
-
Lejeune, J.1
Lafourcade, J.2
Berger, R.3
Turpin, R.4
-
15
-
-
0018734363
-
Complete trisomy 5p: De novo translocation t(2;5)(q36;p11) with isochromosome 5p
-
Leschot NJ, Lim KS. 1979. Complete trisomy 5p: De novo translocation t(2;5)(q36;p11) with isochromosome 5p. Hum Genet 46:271-278.
-
(1979)
Hum Genet
, vol.46
, pp. 271-278
-
-
Leschot, N.J.1
Lim, K.S.2
-
16
-
-
0031033840
-
Proximal partial 5p trisomy resulting from a maternal (19;5) insertion
-
Lorda-Sanchez I, Urioste M, Villa A, del Carmen Carrascosa M, Socorro Vazquez M, Martinez A, Martinez-Frias ML. 1997. Proximal partial 5p trisomy resulting from a maternal (19;5) insertion. Am J Med Genet 68:476-480.
-
(1997)
Am J Med Genet
, vol.68
, pp. 476-480
-
-
Lorda-Sanchez, I.1
Urioste, M.2
Villa, A.3
Del Carmen Carrascosa, M.4
Socorro Vazquez, M.5
Martinez, A.6
Martinez-Frias, M.L.7
-
17
-
-
0026849710
-
Rapid generation of region specific probes by chromosome microdissection and their application
-
Meltzer PS, Guan XY, Burgess A, Trent JM. 1992. Rapid generation of region specific probes by chromosome microdissection and their application. Nat Genet 1:24-28.
-
(1992)
Nat Genet
, vol.1
, pp. 24-28
-
-
Meltzer, P.S.1
Guan, X.Y.2
Burgess, A.3
Trent, J.M.4
-
18
-
-
0020506651
-
Complete trisomy 5p owing to de novo translocation, t(5;22)(q11;p11) with a familial pericentric inversion of chromosome 2, inv 2 (p21q11)
-
Orye E, Benoit Y, Van Mele B. 1983. Complete trisomy 5p owing to de novo translocation, t(5;22)(q11;p11) with a familial pericentric inversion of chromosome 2, inv 2 (p21q11). J Med Genet 20:394-395.
-
(1983)
J Med Genet
, vol.20
, pp. 394-395
-
-
Orye, E.1
Benoit, Y.2
Van Mele, B.3
-
19
-
-
0024345806
-
Pure partial triaomy of the short arm of chromosome 5
-
Rethoré MO, DeBlois MC, Peeters M, Popowski P, Pangalos C, Lejeune J. 1989. Pure partial triaomy of the short arm of chromosome 5. Hum Genet 82:296-298.
-
(1989)
Hum Genet
, vol.82
, pp. 296-298
-
-
Rethoré, M.O.1
Deblois, M.C.2
Peeters, M.3
Popowski, P.4
Pangalos, C.5
Lejeune, J.6
-
20
-
-
0021324278
-
Trisomy 5p: A second case occurring in a previously described kindred
-
Vowles M, McDermott A, Janota I. 1984. Trisomy 5p: a second case occurring in a previously described kindred. J Med Genet 21:144-156.
-
(1984)
J Med Genet
, vol.21
, pp. 144-156
-
-
Vowles, M.1
McDermott, A.2
Janota, I.3
-
21
-
-
0025941775
-
De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints
-
Warburton D. 1991. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 49:995-1013.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 995-1013
-
-
Warburton, D.1
-
22
-
-
0015752932
-
Karyotype with chromosomal abnormality with various inherited defects in the offspring (recombinant aneusomy)
-
Waiter S, Ruch JV, Lehmann M. 1973. Karyotype with chromosomal abnormality with various inherited defects in the offspring (recombinant aneusomy). Hum Genet 20:355-359.
-
(1973)
Hum Genet
, vol.20
, pp. 355-359
-
-
Waiter, S.1
Ruch, J.V.2
Lehmann, M.3
-
23
-
-
0023734798
-
Duplication of a small segment of 5p due to maternal recombination within a paracentric shift
-
Webb GC, Voullaire LE, Rogers JG. 1988. Duplication of a small segment of 5p due to maternal recombination within a paracentric shift. Am J Med Genet 30:875-881.
-
(1988)
Am J Med Genet
, vol.30
, pp. 875-881
-
-
Webb, G.C.1
Voullaire, L.E.2
Rogers, J.G.3
-
24
-
-
0017888702
-
Partial trisomy for short and long arm of chromosome n°5. Two cases of two possible syndromes
-
Zabel B, Baumann JG, Conrad G. 1978. Partial trisomy for short and long arm of chromosome n°5. Two cases of two possible syndromes. J Med Genet 15:143-147.
-
(1978)
J Med Genet
, vol.15
, pp. 143-147
-
-
Zabel, B.1
Baumann, J.G.2
Conrad, G.3
-
25
-
-
0027421992
-
Inverted duplication of chromosome 5p14-p15.3 confirmed with in situ hybridization
-
Zenger-Hain JL, Vandyke DL, Wiktor A, Walker H, Feldman GL. 1993. Inverted duplication of chromosome 5p14-p15.3 confirmed with in situ hybridization. Am J Med Genet 47:1198-1201.
-
(1993)
Am J Med Genet
, vol.47
, pp. 1198-1201
-
-
Zenger-Hain, J.L.1
Vandyke, D.L.2
Wiktor, A.3
Walker, H.4
Feldman, G.L.5
-
26
-
-
0028968777
-
Characterization of an unbalanced de novo rearrangement by microsatellite polymorphism typing and by fluorescent in situ hybridization
-
Zhao J, Gordon PL, Wilroy RS Jr, Martens PR, Tarleton J, Shulman LP, Simpson JL, Elias S, Tharapel AT. 1995. Characterization of an unbalanced de novo rearrangement by microsatellite polymorphism typing and by fluorescent in situ hybridization. Am J Med Genet 56:398-402.
-
(1995)
Am J Med Genet
, vol.56
, pp. 398-402
-
-
Zhao, J.1
Gordon, P.L.2
Wilroy R.S., Jr.3
Martens, P.R.4
Tarleton, J.5
Shulman, L.P.6
Simpson, J.L.7
Elias, S.8
Tharapel, A.T.9
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