-
1
-
-
0018939994
-
A new genetic concept: Uniparental disomy and its potential effect, isodisomy
-
(1980)
Am J Med Genet
, vol.6
, pp. 137-143
-
-
Engel, E.1
-
3
-
-
0023897290
-
Uniparental disomy as a mechanism for human genetic disease
-
(1988)
Am J Hum Genet
, vol.42
, pp. 217-226
-
-
Spence, J.E.1
Perciaccante, R.G.2
Greig, G.M.3
Willard, H.F.4
Ledbetter, D.H.5
Hejtmancik, J.F.6
Pollack, M.S.7
O'Brien, W.E.8
Beaudet, A.L.9
-
7
-
-
0027474269
-
Uniparental disomy for chromosome 16 in humans
-
(1993)
Am J Hum Genet
, vol.52
, pp. 8-16
-
-
Kalousek, D.K.1
Langlois, S.2
Barrett, I.3
Yam, I.4
Wilson, D.R.5
Howard-Peebles, P.N.6
Johnson, M.P.7
Giorgiutti, E.8
-
9
-
-
0033613977
-
Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15
-
(1999)
Am J Med Genet
, vol.82
, pp. 265-274
-
-
Kotzot, D.1
-
11
-
-
0029658702
-
Cytogenetic and age-dependent risk factors associated with uniparental disomy 15
-
(1996)
Prenat Diagn
, vol.16
, pp. 837-844
-
-
Robinson, W.P.1
Langlois, S.2
Schuffenhauer, S.3
Horsthemke, B.4
Michaelis, R.C.5
Christian, S.6
Ledbetter, D.H.7
Schinzel, A.8
-
12
-
-
15844378207
-
Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism
-
(1996)
Prenat Diagn
, vol.16
, pp. 323-332
-
-
Christian, S.L.1
Smith, A.C.M.2
Macha, M.3
Black, S.H.4
Elder, F.F.B.5
Johnson, J.M.-P.6
Resta, R.G.7
Surti, U.8
Suslak, L.9
Verp, M.S.10
Ledbetter, D.H.11
-
13
-
-
0032932423
-
Trisomy 15 CPM: Probable origins, pregnancy outcome and risk for fetal UPD
-
(1999)
Prenat Diagn
, vol.19
, pp. 29-35
-
-
-
14
-
-
0029867499
-
ASHG/ACMG report. Diagnostic testing for Prader-Willi and Angelman syndromes. Report of the ASHG/ACMG Test and Technology Transfer Committee
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1085-1088
-
-
Cassidy, S.B.1
Beaudet, A.L.2
Knoll, J.H.M.3
Ledbetter, D.H.4
Nicholls, R.D.5
Schwartz, S.6
Butler, M.G.7
Watson, M.8
-
15
-
-
0026753976
-
Genetic mapping of four dinucleotide repeat loci, DXS453, DXS458, DXS454, and DXS424, on the X chromosome using multiplex polymerase chain reaction
-
(1992)
Genomics
, vol.13
, pp. 375-380
-
-
Huang, T.H.1
Cottingham, R.W.2
Ledbetter, D.H.3
Zoghbi, H.Y.4
-
18
-
-
0029794055
-
Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1117-1121
-
-
Temple, I.K.1
Gardner, R.J.2
Robinson, D.O.3
Kibirige, M.S.4
Ferguson, A.W.5
Baum, J.D.6
Barber, J.C.7
James, R.S.8
Shield, J.P.9
-
21
-
-
0032912699
-
Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus
-
(1999)
J Pediatr
, vol.134
, pp. 42-46
-
-
Christian, S.L.1
Rich, B.H.2
Loebl, C.3
Israel, J.4
Vasa, R.5
Kittikamron, K.6
Spiro, R.7
Rosenfield, R.8
Ledbetter, D.H.9
-
22
-
-
0034639657
-
The cell cycle control gene ZAC/PLAGL1 is imprinted: A strong candidate gene for transient neonatal diabetes
-
(2000)
Hum Mol Genet
, vol.9
, pp. 453-460
-
-
Kamiya, M.1
Judson, H.2
Okazaki, Y.3
Kusakabe, M.4
Muramatsu, M.5
Takada, S.6
Takagi, N.7
Arima, T.8
Wake, N.9
Kamimura, K.10
Satomura, K.11
Hermann, R.12
Bonthron, D.T.13
Hayashizaki, Y.14
-
24
-
-
0000771975
-
A syndrome of intrauterine dwarfism recognizable at birth with craniofacial dysostosis, disproportionate short arms and other anomalies
-
(1954)
Proc R Soc Med
, vol.47
, pp. 1040-1044
-
-
Russell, A.1
-
25
-
-
0028914364
-
Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation
-
(1995)
Hum Mol Genet
, vol.4
, pp. 583-587
-
-
Kotzot, D.1
Schmitt, S.2
Bernasconi, F.3
Robinson, W.P.4
Lurie, I.W.5
Ilyina, H.6
Mehes, K.7
Hamel, B.C.J.8
Otten, B.J.9
Hergersberg, M.10
Werder, E.11
Schoenle, E.12
Schinzel, A.13
-
30
-
-
0033940412
-
Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome
-
(2000)
Am J Hum Genet
, vol.66
, pp. 36-46
-
-
Monk, D.1
Wakeling, E.L.2
Proud, V.3
Hitchins, M.4
Abu-Amero, S.5
Stanier, P.6
Preece, M.A.7
Moore, G.E.8
-
31
-
-
0033854339
-
Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome
-
(2000)
Am J Hum Genet
, vol.67
, pp. 476-482
-
-
Yoshihashi, H.1
Maeyama, K.2
Kosaki, R.3
Ogata, T.4
Tsukahara, M.5
Goto, Y.-I.6
Hata, J.-I.7
Matsuo, N.8
Smith, R.J.9
Kosaki, K.10
-
35
-
-
0027793754
-
Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: A post-fertilization event
-
(1993)
Eur J Hum Genet
, vol.1
, pp. 19-29
-
-
Henry, I.1
Puech, A.2
Riesewijk, A.3
Ahnine, L.4
Mannens, M.5
Beldjord, C.6
Bitoun, P.7
Tournada, M.-F.8
Landrieu, P.9
Junien, C.10
-
36
-
-
0030988472
-
Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome
-
(1997)
J Med Genet
, vol.34
, pp. 353-359
-
-
Catchpoole, D.1
Lam, W.W.2
Valler, D.3
Temple, I.K.4
Joyce, J.A.5
Reik, W.6
Schofield, P.N.7
Maher, E.R.8
-
39
-
-
16044364516
-
KIP2 is mutated in Beckwith-Wiedemann syndrome
-
(1996)
Nat Genet
, vol.14
, pp. 171-173
-
-
Hatada, I.1
Ohashi, H.2
Fukushima, Y.3
Kaneko, Y.4
Inoue, M.5
Komoto, Y.6
Okada, A.7
Ohishi, S.8
Nabetani, A.9
Morisaki, H.10
Nakayama, M.11
Niikawa, N.12
Mukai, T.13
-
40
-
-
0033609117
-
Loss of imprinting of a paternally expressed transcripts, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 5203-5208
-
-
Lee, M.P.1
DeBaun, M.R.2
Mitsuya, K.3
Galonek, H.L.4
Brandenburg, S.5
Oshimura, M.6
Feinberg, A.P.7
-
41
-
-
0034726689
-
A search for imprinted regions on chromosome 14: Comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion
-
(2000)
Am J Med Genet
, vol.93
, pp. 381-387
-
-
Sutton, V.R.1
Shaffer, L.G.2
|