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1
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0017227904
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Trisomie 15q partielle par translocation maternelle t(7;15)(q35;q14)
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Castel Y, Riviere D, Boncly JY, Toudic L. Trisomie 15q partielle par translocation maternelle t(7;15)(q35;q14). Ann Genet 1976: 19: 75-79.
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(1976)
Ann Genet
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, pp. 75-79
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Castel, Y.1
Riviere, D.2
Boncly, J.Y.3
Toudic, L.4
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2
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0027231008
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Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome
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Clayton-Smith J, Webb T, Cheng XJ, Pembrey ME, Malcolm S. Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. J Med Genet 1993: 30: 529-531.
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(1993)
J Med Genet
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, pp. 529-531
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Clayton-Smith, J.1
Webb, T.2
Cheng, X.J.3
Pembrey, M.E.4
Malcolm, S.5
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3
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0023949366
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The fetal phenotype in 15q2 duplication
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Fryns JP, Kleczkowska, Moerman Ph, Vandenberghe K, Vandenberghe H. The fetal phenotype in 15q2 duplication. Ann Genet 1988: 31: 123-125.
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(1988)
Ann Genet
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Fryns, J.P.1
Kleczkowska2
Moerman, Ph.3
Vandenberghe, K.4
Vandenberghe, H.5
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4
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0016348185
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Inherited partial duplication of chromosome 15
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Fujimoto A, Towner JW, Ebbin AJ, Kahlstrom EJ, Wilson NG. Inherited partial duplication of chromosome 15. J Med Genet 1974: 11: 287-291.
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(1974)
J Med Genet
, vol.11
, pp. 287-291
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Fujimoto, A.1
Towner, J.W.2
Ebbin, A.J.3
Kahlstrom, E.J.4
Wilson, N.G.5
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5
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0022413066
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Trisomy 15q23→qter due to a de novo t(11;15)(q25;q23) and assignment of the critical segment
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Garcia-Cruz D, Garcia-Esquivel L, Rivera H, Vaca G, Rolon A, Cantu JM. Trisomy 15q23→qter due to a de novo t(11;15)(q25;q23) and assignment of the critical segment. Ann Genet 1985: 28: 193-196.
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(1985)
Ann Genet
, vol.28
, pp. 193-196
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Garcia-Cruz, D.1
Garcia-Esquivel, L.2
Rivera, H.3
Vaca, G.4
Rolon, A.5
Cantu, J.M.6
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6
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0021051739
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De novo interstitial direct duplication of 15q: 46,XY,dir dup(15) (pter→q24:-:q14→q21.1::q24→qter)
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Herr HM, Scott Jr CI, Horton SJ. De novo interstitial direct duplication of 15q: 46,XY,dir dup(15) (pter→q24:-:q14→q21.1::q24→qter). J Med Genet 1983: 20: 473-475.
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(1983)
J Med Genet
, vol.20
, pp. 473-475
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Herr, H.M.1
Scott Jr., C.I.2
Horton, S.J.3
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7
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0023232927
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Chromosomal polymorphisms of 1, 9, 16, and Y in 4 major ethnic groups: A large prenatal study
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Hsu LY, Benn PA, Tannenbaum HL, Perlis TE, Carlson AD. Chromosomal polymorphisms of 1, 9, 16, and Y in 4 major ethnic groups: a large prenatal study. Am J Med Genet 1987: 26: 95-101.
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(1987)
Am J Med Genet
, vol.26
, pp. 95-101
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Hsu, L.Y.1
Benn, P.A.2
Tannenbaum, H.L.3
Perlis, T.E.4
Carlson, A.D.5
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9
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0021252272
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Partial trisomy 15(q25qter) in two brothers
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Kristoffersson U, Bergwall B. Partial trisomy 15(q25qter) in two brothers. Hereditas 1984: 100: 7-10.
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(1984)
Hereditas
, vol.100
, pp. 7-10
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Kristoffersson, U.1
Bergwall, B.2
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10
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0023130925
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Duplication of distal 15q: Report of five new cases from two different translocation kindreds
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Lacro RV, Jones KL, Mascarello JT, Jones OW, Wilson N, Jones MC. Duplication of distal 15q: report of five new cases from two different translocation kindreds. Am J Med Genet 1987: 26: 719-728.
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(1987)
Am J Med Genet
, vol.26
, pp. 719-728
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Lacro, R.V.1
Jones, K.L.2
Mascarello, J.T.3
Jones, O.W.4
Wilson, N.5
Jones, M.C.6
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11
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0028902039
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A mutation in FBN1 disrupts profibrillin processing and results in isolate skeletal features of the Marfan syndrome
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Milewicz DM, Grossfield J, Cao SN, Kielty C, Covitz W, Jewett T. A mutation in FBN1 disrupts profibrillin processing and results in isolate skeletal features of the Marfan syndrome. J Clin Invest 1995: 95: 2373-2378.
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(1995)
J Clin Invest
, vol.95
, pp. 2373-2378
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Milewicz, D.M.1
Grossfield, J.2
Cao, S.N.3
Kielty, C.4
Covitz, W.5
Jewett, T.6
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12
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0030043609
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Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant
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Milunsky JM, Wyandt HE, Huang XL, Kang XZ, Elias ER, Milunsky A. Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant. Am J Med Genet 1996: 61: 269-273.
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(1996)
Am J Med Genet
, vol.61
, pp. 269-273
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Milunsky, J.M.1
Wyandt, H.E.2
Huang, X.L.3
Kang, X.Z.4
Elias, E.R.5
Milunsky, A.6
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13
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0022485326
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Phenotype-karyotype correlation in patients trisomie for various segments of chromosome 13
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Tharapel SA, Lewandowski RC, Tharapel AT, Wilroy Jr RS. Phenotype-karyotype correlation in patients trisomie for various segments of chromosome 13. J Med Genet 1986: 23: 310-315.
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(1986)
J Med Genet
, vol.23
, pp. 310-315
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Tharapel, S.A.1
Lewandowski, R.C.2
Tharapel, A.T.3
Wilroy Jr., R.S.4
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15
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15644362640
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Two familial cases with trisomy 15q distal due to a rep (5:15)(p14;q21)
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Tzancheva M, Krachounova M, Damjanova Z. Two familial cases with trisomy 15q distal due to a rep (5:15)(p14;q21). Hum Genet 1981: 56: 5-7.
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(1981)
Hum Genet
, vol.56
, pp. 5-7
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Tzancheva, M.1
Krachounova, M.2
Damjanova, Z.3
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16
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0019917239
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A de novo tandem duplication 15(q21→qter) mosaic
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Yip MY, Parson A, Hulten M. A de novo tandem duplication 15(q21→qter) mosaic. Clin Genet 1982: 2: 1-6.
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(1982)
Clin Genet
, vol.2
, pp. 1-6
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Yip, M.Y.1
Parson, A.2
Hulten, M.3
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17
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0017731460
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Trisomie partielle pour la partie distale du bras long de chromosome 15 par translocation X/15 maternelle
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Zabel B, Baumann W. Trisomie partielle pour la partie distale du bras long de chromosome 15 par translocation X/15 maternelle. Ann Genet 1977: 20: 285-289.
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(1977)
Ann Genet
, vol.20
, pp. 285-289
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Zabel, B.1
Baumann, W.2
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