-
1
-
-
18344407254
-
Pure terminal duplication of the short arm of chromosome 19 in a boy with mild microcephaly
-
Andies S, Sartenaer D, Rack K, Rombout S, Tuerlinckx D, Gillerot Y, Van Maldergem L. 2002. Pure terminal duplication of the short arm of chromosome 19 in a boy with mild microcephaly. J Med Genet 39:e60.
-
(2002)
J Med Genet
, vol.39
-
-
Andies, S.1
Sartenaer, D.2
Rack, K.3
Rombout, S.4
Tuerlinckx, D.5
Gillerot, Y.6
Van Maldergem, L.7
-
2
-
-
38849085346
-
Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation
-
DOI 10.1542/peds.2007-0929
-
Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC. 2008. Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics 121:404-410. (Pubitemid 351198468)
-
(2008)
Pediatrics
, vol.121
, Issue.2
, pp. 404-410
-
-
Battaglia, A.1
Hoyme, H.E.2
Dallapiccola, B.3
Zackai, E.4
Hudgins, L.5
McDonald-McGinn, D.6
Bahi-Buisson, N.7
Romano, C.8
Williams, C.A.9
Braley, L.L.10
Zuberi, S.M.11
Carey, J.C.12
-
3
-
-
17744362866
-
Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL
-
DOI 10.1038/sj.ejhg.5200545
-
Brown J, Horsley SW, Jung C, Saracoglu K, Janssen B, Brough M, Daschner M, Beedgen B, Guido K, Elils R, Harris PC, Jauch A, Kearney L. 2000. Identification of subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL. Eur J Hum Genet 8:903-910. (Pubitemid 32094340)
-
(2000)
European Journal of Human Genetics
, vol.8
, Issue.12
, pp. 903-910
-
-
Brown, J.1
Horsley, S.W.2
Jung, C.3
Saracoglu, K.4
Janssen, B.5
Brough, M.6
Daschner, M.7
Beedgen, B.8
Kerkhoffs, G.9
Eils, R.10
Harris, P.C.11
Jauch, A.12
Kearney, L.13
-
4
-
-
0842324579
-
Partial trisomy 19p
-
Byrne JLB, Korn GA, Dewv VG, Bunch GM, Brooks K, Friedman JM, Harrod MJE. 1980. Partial trisomy 19p. Am J Hum Genet 32:64A.
-
(1980)
Am J Hum Genet
, vol.32
-
-
Byrne, J.L.B.1
Korn, G.A.2
Dewv, V.G.3
Bunch, G.M.4
Brooks, K.5
Friedman, J.M.6
Harrod, M.J.E.7
-
6
-
-
0032561502
-
A physical map of 30,000 human genes
-
DOI 10.1126/science.282.5389.744
-
Deloukas P, Schuler GD, Gyapay G, Beasley EM, Soderlund C, Rodriguez-Tome P, Hui L, Matise TC, McKusick KB, Beckman JS, Bentolila S, Bihoreau M-T, Birren BB, Browne J, Butler A, Castle AB, Chiannikulchai N, Clee C, Day PJR, Dehejia A, Dibling T, Drout N, Duprat S, Fizames C, Fox S, Gelling S, Green L, Harrison P, Hocking R, Holloway E, Hunt S, Keil S, Lijnzaad P, Louis-Dit-Sully C, MaJ, Medis A, Miller J, Morissette J, Muselet D, Nusbaum HC, Peck A, Rozen S, Simon D, Slonim DK, Staples R, Stein LD, Stewart EA, Suchard MA, Thangarajah T, Vega-Czarny N, Webber C, Wu X, Auffray JC, Nomura N, Sikela JM, Polymeropoulos MH, James MR, Lander ES, Hudson TJ, Myers RM, Cox DR, Weissenbach J, Boguski MS, Bentley DR. 1998. A physical map of 30,000 human genes. Science 282:744-746. (Pubitemid 28489386)
-
(1998)
Science
, vol.282
, Issue.5389
, pp. 744-746
-
-
Deloukas, P.1
Schuler, G.D.2
Gyapay, G.3
Beasley, E.M.4
Soderlund, C.5
Rodriguez-Tome, P.6
Hui, L.7
Matise, T.C.8
McKusick, K.B.9
Beckmann, J.S.10
Bentolila, S.11
Bihoreau, M.-T.12
Birren, B.B.13
Browne, J.14
Butler, A.15
Castle, A.B.16
Chiannilkulchai, N.17
Clee, C.18
Day, P.J.R.19
Dehejia, A.20
Dibling, T.21
Drouot, N.22
Duprat, S.23
Fizames, C.24
Fox, S.25
Gelling, S.26
Green, L.27
Harrison, P.28
Hocking, R.29
Holloway, E.30
Hunt, S.31
Keil, S.32
Lijnzaad, P.33
Louis-Dit-Sully, C.34
Ma, J.35
Mendis, A.36
Miller, J.37
Morissette, J.38
Muselet, D.39
Nusbaum, H.C.40
Peck, A.41
Rozen, S.42
Simon, D.43
Slonim, D.K.44
Staples, R.45
Stein, L.D.46
Stewart, E.A.47
Suchard, M.A.48
Thangarajah, T.49
Vega-Czarny, N.50
Webber, C.51
Wu, X.52
Hudson, J.53
Auffray, C.54
Nomura, N.55
Sikela, J.M.56
Polymeropoulos, M.H.57
James, M.R.58
Lander, E.S.59
Hudson, T.J.60
Myers, R.M.61
Cox, D.R.62
Weissenbach, J.63
Boguski, M.S.64
Bentley, D.R.65
more..
-
7
-
-
0035101844
-
Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation [5]
-
Giraudeau F, Taine L, Biancalana V, Delobel B, Journel H, Missirian C, Lacombe D, Bonneau D, Parent P, Aubert D, Hauck Y, Croquette MF, Toutain A, Mattei MG, Loiseau HA, David A, Vergnaud G. 2001. Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletion in large collection of patients with idiopathic mental retardation. J Med Genet 38:121-125. (Pubitemid 32171347)
-
(2001)
Journal of Medical Genetics
, vol.38
, Issue.2
, pp. 121-125
-
-
Giraudeau, F.1
Taine, L.2
Biancalana, V.3
Delobel, B.4
Journel, H.5
Missirian, C.6
Lacombe, D.7
Bonneau, D.8
Parent, P.9
Aubert, D.10
Hauck, Y.11
Croquette, M.F.12
Toutain, A.13
Mattei, M.G.14
Loiseau, H.A.15
David, A.16
Vergnaud, G.17
-
8
-
-
0842305735
-
Subtelomicroscopic deletion 9(q34.3) and duplication 19(p13.3): Identified by subtelomere specific FISH probe
-
Quigley DI, Kaiser-Rogers K, Aylsworth AS, Rao KW. 2004. Subtelomicroscopic deletion 9(q34.3) and duplication 19(p13.3): Identified by subtelomere specific FISH probe. Am J Med Genet Part A 125A:67-72.
-
(2004)
Am J Med Genet Part A
, vol.125 A
, pp. 67-72
-
-
Quigley, D.I.1
Kaiser-Rogers, K.2
Aylsworth, A.S.3
Rao, K.W.4
-
9
-
-
0019519554
-
Sur un cas de trisomie 19 en mosaique
-
Rethore M, Debray P, Guesne M, Amedee-Manesme O, Iris L, Lejeune J. 1981. Sur un cas de trisomie 19 en mosaique. Ann Genet 24:34-36.
-
(1981)
Ann Genet
, vol.24
, pp. 34-36
-
-
Rethore, M.1
Debray, P.2
Guesne, M.3
Amedee-Manesme, O.4
Iris, L.5
Lejeune, J.6
-
10
-
-
0026535308
-
Partial trisomy 19p: Case report and natural history
-
Salbert BA, Solomon M, Spence JE, Jackson-Cook C, Brown J, Bodurtha J. 1992. Partial trisomy 19p: Case report and natural history. Clin Genet 41:143-146.
-
(1992)
Clin Genet
, vol.41
, pp. 143-146
-
-
Salbert, B.A.1
Solomon, M.2
Spence, J.E.3
Jackson-Cook, C.4
Brown, J.5
Bodurtha, J.6
-
12
-
-
0030870848
-
Chromosome 1p36 deletions: The clinical phenotype and molecular characterization of a common newly delineated syndrome
-
Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FF, Sutton VR, Korenberg JR, Greenberg F, Shaffer LG. 1997. Chromosome 1p36 deletions: The clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet 61:642-650. (Pubitemid 27418406)
-
(1997)
American Journal of Human Genetics
, vol.61
, Issue.3
, pp. 642-650
-
-
Shapira, S.K.1
McCaskill, C.2
Northrup, H.3
Spikes, A.S.4
Elder, F.F.B.5
Sutton, V.R.6
Korenberg, J.R.7
Greenberg, F.8
Shaffer, L.G.9
-
14
-
-
0029012349
-
Interstitial duplication 19p
-
Stratton RF, DuPont BR, Olsen AS, Fetitta A, Hoyer M, Moore CM. 1995. Interstitial duplication 19p. Am J Med Genet 57:562-564.
-
(1995)
Am J Med Genet
, vol.57
, pp. 562-564
-
-
Stratton, R.F.1
Dupont, B.R.2
Olsen, A.S.3
Fetitta, A.4
Hoyer, M.5
Moore, C.M.6
|