-
1
-
-
0022570280
-
Probable involvement of immunoglobulin superfamily genes in most recurrent chromosoaml rearrangements from ataxia telangiectasia
-
Aurias A, Dutrillaux B. 1986. Probable involvement of immunoglobulin superfamily genes in most recurrent chromosoaml rearrangements from ataxia telangiectasia. Hum Genet 72:210-214.
-
(1986)
Hum Genet
, vol.72
, pp. 210-214
-
-
Aurias, A.1
Dutrillaux, B.2
-
2
-
-
0018289523
-
Partial trisomy 6p
-
Bernheim A, Berger R, Vaugier G, Thieffry JC, Matet Y. 1979. Partial trisomy 6p. Hum Genet 48:13-16.
-
(1979)
Hum Genet
, vol.48
, pp. 13-16
-
-
Bernheim, A.1
Berger, R.2
Vaugier, G.3
Thieffry, J.C.4
Matet, Y.5
-
3
-
-
0017640477
-
Partial trisomy 6p due to familial translocation t(6;20)(p21;p13). A new syndrome?
-
Breuning MH, Bulsma JB, DeFrance HF. 1977. Partial trisomy 6p due to familial translocation t(6;20)(p21;p13). A new syndrome? Hum Genet 38:7-13.
-
(1977)
Hum Genet
, vol.38
, pp. 7-13
-
-
Breuning, M.H.1
Bulsma, J.B.2
DeFrance, H.F.3
-
5
-
-
0028206379
-
Premature ovarian failure and ovarian dysgenesis associated with balanced and unbalanced X-6 translocations, respectively: Implications for the investigation of ovarian failure
-
Center JR, McElduff A, Roberts CG. 1994. Premature ovarian failure and ovarian dysgenesis associated with balanced and unbalanced X-6 translocations, respectively: Implications for the investigation of ovarian failure. Aust N Z J Obstet Gynaecol 34:185-188.
-
(1994)
Aust N Z J Obstet Gynaecol
, vol.34
, pp. 185-188
-
-
Center, J.R.1
McElduff, A.2
Roberts, C.G.3
-
6
-
-
0020568750
-
Partial trisomy 14(q23 → qter) via segregation of a 14/X translocation
-
Cohen MM, Chrrow J, Balkin NE, Harris CJ. 1983. Partial trisomy 14(q23 → qter) via segregation of a 14/X translocation. Am J Hum Genet 35:635-644.
-
(1983)
Am J Hum Genet
, vol.35
, pp. 635-644
-
-
Cohen, M.M.1
Chrrow, J.2
Balkin, N.E.3
Harris, C.J.4
-
7
-
-
0022397472
-
Partial trisomy 6p and partial monosomy 9p from a de novo translocation 46,XY,-9,+der(9)t (6;9)(p21.1;p24)
-
Eden MS, Thelin JW, Michalski K, Mitchell JA. 1985. Partial trisomy 6p and partial monosomy 9p from a de novo translocation 46,XY,-9,+der(9)t (6;9)(p21.1;p24). Clin Genet 28:375-384.
-
(1985)
Clin Genet
, vol.28
, pp. 375-384
-
-
Eden, M.S.1
Thelin, J.W.2
Michalski, K.3
Mitchell, J.A.4
-
8
-
-
0025770440
-
Balanced reciprocal translocation Mosaicism: New cases and a literature review
-
Farrell SA. 1991. Balanced reciprocal translocation Mosaicism: New cases and a literature review. Am J Med Genet 40:345-347.
-
(1991)
Am J Med Genet
, vol.40
, pp. 345-347
-
-
Farrell, S.A.1
-
9
-
-
0026594565
-
Common sequence motif at the rearrangement sites of a constitutional X/autosome translocation and associated deletion
-
Giacalone JP, Franck U. 1992. Common sequence motif at the rearrangement sites of a constitutional X/autosome translocation and associated deletion. Am J Hum Genet 50:725-741.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 725-741
-
-
Giacalone, J.P.1
Franck, U.2
-
10
-
-
1842367311
-
Expand long PCR for fragile X mutation detection
-
Hećimović S, Barišić I, Muller A, Petković I, Barić I, Ligutić I, Pavelić K. 1997. Expand long PCR for fragile X mutation detection. Clin Genet 52:147-154.
-
(1997)
Clin Genet
, vol.52
, pp. 147-154
-
-
Hećimović, S.1
Barišić, I.2
Muller, A.3
Petković, I.4
Barić, I.5
Ligutić, I.6
Pavelić, K.7
-
11
-
-
33646213713
-
H4 acetylation, Xist mRNA and replication timing coincident molecular cytogenetic markers for t(X;6)(p11.2;p21.1) translocation boundary but do not allow accurate prediction of the phenotype
-
Jonathan W, Barlow A, Keohane A, Cole T, Bourn D, Turner B. 1999. H4 acetylation, Xist mRNA and replication timing coincident molecular cytogenetic markers for t(X;6)(p11.2;p21.1) translocation boundary but do not allow accurate prediction of the phenotype. Cytogenet Cell Genet 85:10-11.
-
(1999)
Cytogenet Cell Genet
, vol.85
, pp. 10-11
-
-
Jonathan, W.1
Barlow, A.2
Keohane, A.3
Cole, T.4
Bourn, D.5
Turner, B.6
-
12
-
-
0032929080
-
H4 acetylation, XIST RNA and replication timing are coincident and define x;autosome boundaries in two abnormal X chromosomes
-
Keohane AM, Barlow AL, Waters J, Bourn D, Turner BM. 1999. H4 acetylation, XIST RNA and replication timing are coincident and define x;autosome boundaries in two abnormal X chromosomes. Hum Mol Genet 8:377-383.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 377-383
-
-
Keohane, A.M.1
Barlow, A.L.2
Waters, J.3
Bourn, D.4
Turner, B.M.5
-
13
-
-
0025364687
-
On the variable effect of mosaic normal/balanced chromosomal rearrangements in man
-
Kleczkowska A, Fryns JP, Van den Berghe H. 1990. On the variable effect of mosaic normal/balanced chromosomal rearrangements in man. J Med Genet 27:505-507.
-
(1990)
J Med Genet
, vol.27
, pp. 505-507
-
-
Kleczkowska, A.1
Fryns, J.P.2
Van den Berghe, H.3
-
14
-
-
0033818049
-
Paternal meiotic origin of the der(21;21) (q10;q10) mosaicism [46,XX/46,XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome
-
Kotzot D, Schinzel A. 2000. Paternal meiotic origin of the der(21;21) (q10;q10) mosaicism [46,XX/46,XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome. Eur J Hum Genet 8:709-712.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 709-712
-
-
Kotzot, D.1
Schinzel, A.2
-
15
-
-
0024491537
-
Duplication 6p and deletion 9p
-
Lytle C, Wade J, Farrier A, Flohreschutz F, Hecht B, Allanson J. 1989. Duplication 6p and deletion 9p. J Med Genet 26:64-66.
-
(1989)
J Med Genet
, vol.26
, pp. 64-66
-
-
Lytle, C.1
Wade, J.2
Farrier, A.3
Flohreschutz, F.4
Hecht, B.5
Allanson, J.6
-
16
-
-
0035500889
-
Molecularly defined interstitial tandem duplication 6p case with mild manifestations
-
Ng D, Mowrey P, Ragoussis J, Mirza G, Coll E, Di Fazio MP, Turner C, Levin SW. 2001. Molecularly defined interstitial tandem duplication 6p case with mild manifestations. Am J Med Genet 103:320-325.
-
(2001)
Am J Med Genet
, vol.103
, pp. 320-325
-
-
Ng, D.1
Mowrey, P.2
Ragoussis, J.3
Mirza, G.4
Coll, E.5
Di Fazio, M.P.6
Turner, C.7
Levin, S.W.8
-
17
-
-
0026695710
-
Cytogenetic analysis in ataxia telangiesctasia with malignant lymphoma
-
Petković I, Ligutić I, Dominis M, Loffler-Badžak D, Ćepulić M, Nakić M. 1992. Cytogenetic analysis in ataxia telangiesctasia with malignant lymphoma. Cancer Genet Cytogenet 60:158-163.
-
(1992)
Cancer Genet Cytogenet
, vol.60
, pp. 158-163
-
-
Petković, I.1
Ligutić, I.2
Dominis, M.3
Loffler-Badžak, D.4
Ćepulić, M.5
Nakić, M.6
-
18
-
-
0027497877
-
Unbalanced mosaic karyotypes with different structural abnormalities involving a common chromosome region: Report of two cases
-
Pettenati MJ, Teot LA, Smith C, Hayworth R, Thomas IT, Veille JC, Rao PN. 1993. Unbalanced mosaic karyotypes with different structural abnormalities involving a common chromosome region: Report of two cases. Am J Med Genet 45:365-369.
-
(1993)
Am J Med Genet
, vol.45
, pp. 365-369
-
-
Pettenati, M.J.1
Teot, L.A.2
Smith, C.3
Hayworth, R.4
Thomas, I.T.5
Veille, J.C.6
Rao, P.N.7
-
20
-
-
0023775790
-
Meiotic analysis of two human reciprocal X-autosome translocations
-
Quack B, Speed RM, Luciani JM, Noel B, Guichaoua M, Chandley AC. 1988. Meiotic analysis of two human reciprocal X-autosome translocations. Cytogenet Cell Genet 48:43-47.
-
(1988)
Cytogenet Cell Genet
, vol.48
, pp. 43-47
-
-
Quack, B.1
Speed, R.M.2
Luciani, J.M.3
Noel, B.4
Guichaoua, M.5
Chandley, A.C.6
-
21
-
-
0344654747
-
"Essentially pur" partial trisomy (6)(p23 → pter) in two brother due to maternal t(6;17) (p23;p13.3)
-
Rothlisberger B, Kotzot D, Gnehm HE, Schinzel A. 1999. "Essentially pur" partial trisomy (6)(p23 → pter) in two brother due to maternal t(6;17) (p23;p13.3). Am J Med Genet 85:389-394.
-
(1999)
Am J Med Genet
, vol.85
, pp. 389-394
-
-
Rothlisberger, B.1
Kotzot, D.2
Gnehm, H.E.3
Schinzel, A.4
-
22
-
-
0022593197
-
Partial trisomy 6p and partial trisomy 22 from 3:1 meiotic disjunction of maternal (6p;22q) translocation
-
Scarbrough PR, Carroll AJ, Finley SC, Hamerick K. 1986. Partial trisomy 6p and partial trisomy 22 from 3:1 meiotic disjunction of maternal (6p;22q) translocation. J Med Genet 23:185-187.
-
(1986)
J Med Genet
, vol.23
, pp. 185-187
-
-
Scarbrough, P.R.1
Carroll, A.J.2
Finley, S.C.3
Hamerick, K.4
-
24
-
-
0016825907
-
Attraction between centromeric heterochromatin of human chromosomes
-
Schmid M, Vogel W, Krone W. 1975. Attraction between centromeric heterochromatin of human chromosomes. Cytogenet Cell Genet 15:66-80.
-
(1975)
Cytogenet Cell Genet
, vol.15
, pp. 66-80
-
-
Schmid, M.1
Vogel, W.2
Krone, W.3
-
25
-
-
0017061852
-
Cytological demonstration of mitotic crossing-over in man
-
Therman E, Kuhn M. 1976. Cytological demonstration of mitotic crossing-over in man. Cytogenet Cell Genet 17:254-267.
-
(1976)
Cytogenet Cell Genet
, vol.17
, pp. 254-267
-
-
Therman, E.1
Kuhn, M.2
-
26
-
-
0025315275
-
The similarity of phenotypic effects cause by Xp and Xq deletions in the human female: A hypothesis
-
Therman E, Susman B. 1990. The similarity of phenotypic effects cause by Xp and Xq deletions in the human female: A hypothesis. Hum Genet 85:175-183.
-
(1990)
Hum Genet
, vol.85
, pp. 175-183
-
-
Therman, E.1
Susman, B.2
-
27
-
-
0034723723
-
Interstitial tandem duplication of 6p: A case with partial trisomy (6)(p12p21.3)
-
Villa A, Gomez EG, Rodriguez L, Rastrollo RH, Martinez Tallo ME, Martinez-Frias ML. 2000. Interstitial tandem duplication of 6p: A case with partial trisomy (6)(p12p21.3). Am J Med Genet 90:369-375.
-
(2000)
Am J Med Genet
, vol.90
, pp. 369-375
-
-
Villa, A.1
Gomez, E.G.2
Rodriguez, L.3
Rastrollo, R.H.4
Martinez Tallo, M.E.5
Martinez-Frias, M.L.6
-
28
-
-
0027428757
-
Application of fluorescence in situ hybridization for early prenatal diagnosis of parental trisomy 6p/monosomy 6q due to a familial pericentric inversion
-
Wauters JG, Bossuyt PJ, Roelen L, Vanroy B, Dumon J. 1993. Application of fluorescence in situ hybridization for early prenatal diagnosis of parental trisomy 6p/monosomy 6q due to a familial pericentric inversion. Clin Genet 44:262-269.
-
(1993)
Clin Genet
, vol.44
, pp. 262-269
-
-
Wauters, J.G.1
Bossuyt, P.J.2
Roelen, L.3
Vanroy, B.4
Dumon, J.5
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