-
1
-
-
0032231460
-
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: Implications for imprint switch models, genetic counseling and prenatal diagnosis
-
Buiting K, Dittrich B, Gross S, Lich C, Fäber C, Buchholz T, Smith E, Reis A, Bürger J, Nöthen MM, Barth-Witte U, Janssen B, Abeliovich D, Lerer I, Ouweland AMW van den, Halley D, Schrander-Stumpel C, Smeets H, Meinecke P, Malcolm S, Gardner A, Lalande M, Nicholls R, Friend K, Schulze A, Matthijs G, Kokkonen H, Hilbert P, Maldergem L van, Glover G, Carbonell P, Willems P, Gillessen-Kaesbach G, Horsthemke B (1998) Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint switch models, genetic counseling and prenatal diagnosis. Am J Hum Genet 63:170-180
-
(1998)
Am J Hum Genet
, vol.63
, pp. 170-180
-
-
Buiting, K.1
Dittrich, B.2
Gross, S.3
Lich, C.4
Fäber, C.5
Buchholz, T.6
Smith, E.7
Reis, A.8
Bürger, J.9
Nöthen, M.M.10
Barth-Witte, U.11
Janssen, B.12
Abeliovich, D.13
Lerer, I.14
Van Den Ouweland, A.M.W.15
Halley, D.16
Schrander-Stumpel, C.17
Smeets, H.18
Meinecke, P.19
Malcolm, S.20
Gardner, A.21
Lalande, M.22
Nicholls, R.23
Friend, K.24
Schulze, A.25
Matthijs, G.26
Kokkonen, H.27
Hilbert, P.28
Van Maldergem, L.29
Glover, G.30
Carbonell, P.31
Willems, P.32
Gillessen-Kaesbach, G.33
Horsthemke, B.34
more..
-
2
-
-
0029868661
-
Familial cryptic translocation resulting in Angelman syndrome: Implications for imprinting or location of the Angelman gene?
-
Burke LW, Wiley JE, Glenn CC, Driscoll DJ, Loud KM, Smith AJ, Kushnick T (1996) Familial cryptic translocation resulting in Angelman syndrome: implications for imprinting or location of the Angelman gene? Am J Hum Genet 58:777-784
-
(1996)
Am J Hum Genet
, vol.58
, pp. 777-784
-
-
Burke, L.W.1
Wiley, J.E.2
Glenn, C.C.3
Driscoll, D.J.4
Loud, K.M.5
Smith, A.J.6
Kushnick, T.7
-
3
-
-
0032939631
-
The spectrum of mutations in UBE3A causing Angelman syndrome
-
Fang P, Lev-Lehman E, Tsai T-F, Matsuura T, Benton CS, Sutcliffe JS, Christian SL, Kubota T, Halley DJ, Meijers-Heijboer H, Langlois S, Graham JM Jr, Beuten J, Willems PJ, Ledbetter DH, Beaudet AL (1999) The spectrum of mutations in UBE3A causing Angelman syndrome. Hum Mol Genet 8:129-135
-
(1999)
Hum Mol Genet
, vol.8
, pp. 129-135
-
-
Fang, P.1
Lev-Lehman, E.2
Tsai, T.-F.3
Matsuura, T.4
Benton, C.S.5
Sutcliffe, J.S.6
Christian, S.L.7
Kubota, T.8
Halley, D.J.9
Meijers-Heijboer, H.10
Langlois, S.11
Graham J.M., Jr.12
Beuten, J.13
Willems, P.J.14
Ledbetter, D.H.15
Beaudet, A.L.16
-
4
-
-
0030789040
-
Counselling dilemmas associated with the molecular characterisaton of two Angelman syndrome families
-
Gilbert HL, Buxton JL, Chan CTJ, McKay T, Cottrell S, Ramsden S, Winter RM, Pembrey ME, Malcom S (1997) Counselling dilemmas associated with the molecular characterisaton of two Angelman syndrome families. J Med Genet 34:651-655
-
(1997)
J Med Genet
, vol.34
, pp. 651-655
-
-
Gilbert, H.L.1
Buxton, J.L.2
Chan, C.T.J.3
McKay, T.4
Cottrell, S.5
Ramsden, S.6
Winter, R.M.7
Pembrey, M.E.8
Malcom, S.9
-
5
-
-
0033358742
-
Genetics of Angelman syndrome
-
Jiang Y, Lev-Lehman E, Bressler J, Tsai T, Beudet L (1999) Genetics of Angelman syndrome. Am J Hum Genet 65:1-6
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1-6
-
-
Jiang, Y.1
Lev-Lehman, E.2
Bressler, J.3
Tsai, T.4
Beudet, L.5
-
6
-
-
0029021151
-
A molecular and cytogenetic study in Finnish Prader-Willi patients
-
Kokkonen H. Kähkönen M, Leisti J (1995) A molecular and cytogenetic study in Finnish Prader-Willi patients. Hum Genet 95:568-571
-
(1995)
Hum Genet
, vol.95
, pp. 568-571
-
-
Kokkonen, H.1
Kähkönen, M.2
Leisti, J.3
-
7
-
-
0033070151
-
Molecular mechanism of Angelman syndrome in two large families involves an imprinting mutation
-
Ohta T, Buiting K, Kokkonen H, McCandless S, Heeger S, Leisti H, Driscoll DJ, Cassidy SB, Horsthemke B, Nicholls RD (1999) Molecular mechanism of Angelman syndrome in two large families involves an imprinting mutation. Am J Hum Genet 64:385-396
-
(1999)
Am J Hum Genet
, vol.64
, pp. 385-396
-
-
Ohta, T.1
Buiting, K.2
Kokkonen, H.3
McCandless, S.4
Heeger, S.5
Leisti, H.6
Driscoll, D.J.7
Cassidy, S.B.8
Horsthemke, B.9
Nicholls, R.D.10
-
8
-
-
0026500579
-
3- subunit gene
-
3- subunit gene. Lancet 339:366-367
-
(1992)
Lancet
, vol.339
, pp. 366-367
-
-
Saitoh, S.1
Kubota, T.2
Ohta, T.3
Jinno, Y.4
Niikawa, N.5
Sugimoto, T.6
Wagstaff, J.7
Lalande, M.8
-
9
-
-
0026566594
-
Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15
-
Smeets DFCM, Hamel BCJ, Nelen MR, Smeets HJM, Bollen JHM, Smith APT, Ropers HH, Oost B van (1992) Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15. N Engl J Med 326:807-811
-
(1992)
N Engl J Med
, vol.326
, pp. 807-811
-
-
Smeets, D.F.C.M.1
Hamel, B.C.J.2
Nelen, M.R.3
Smeets, H.J.M.4
Bollen, J.H.M.5
Smith, A.P.T.6
Ropers, H.H.7
Van Oost, B.8
-
10
-
-
0032574634
-
Genetic counseling in Angelman syndrome: The challenges of multiple causes
-
Stalker HJ, Williams C A (1998) Genetic counseling in Angelman syndrome: the challenges of multiple causes. Am J Med Genet 77:54-59
-
(1998)
Am J Med Genet
, vol.77
, pp. 54-59
-
-
Stalker, H.J.1
Williams, C.A.2
-
11
-
-
0027064979
-
Angelman syndrome with a chromosomal inversion 15inv(p11q13) accompanied by a deletion in 15q11-q13
-
Webb T, Clayton-Smith J, Cheng XJ, Knoll JHM, Lalande M, Pembrey ME, Malcom S (1992) Angelman syndrome with a chromosomal inversion 15inv(p11q13) accompanied by a deletion in 15q11-q13. J Med Genet 29:921-924
-
(1992)
J Med Genet
, vol.29
, pp. 921-924
-
-
Webb, T.1
Clayton-Smith, J.2
Cheng, X.J.3
Knoll, J.H.M.4
Lalande, M.5
Pembrey, M.E.6
Malcom, S.7
-
12
-
-
0028969404
-
Angelman syndrome: Consensus for diagnostic criteria
-
Williams CA, Angelman H, Claytopn-Smith J, Driscoll DJ, Hendrickson JE, Knoll JHM, Magenis RE, Schinzel A, Wagstaff J, Whidden EM, Zori RT (1995) Angelman syndrome: consensus for diagnostic criteria. Am J Med Genet 56:237-238
-
(1995)
Am J Med Genet
, vol.56
, pp. 237-238
-
-
Williams, C.A.1
Angelman, H.2
Claytopn-Smith, J.3
Driscoll, D.J.4
Hendrickson, J.E.5
Knoll, J.H.M.6
Magenis, R.E.7
Schinzel, A.8
Wagstaff, J.9
Whidden, E.M.10
Zori, R.T.11
-
13
-
-
0031946632
-
Germ line mosaicism
-
Zlotogora J (1998) Germ line mosaicism. Hum Genet 102:381-386
-
(1998)
Hum Genet
, vol.102
, pp. 381-386
-
-
Zlotogora, J.1
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