-
2
-
-
0026741249
-
Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies
-
Hsu L, Kaffe S, Jenkins E, Alonso L, Benn P, David K, Hirschhorn K, Lieber E, Shanske A, Shapiro L. 1992. Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies. Prenat Diagn 12:555-573.
-
(1992)
Prenat Diagn
, vol.12
, pp. 555-573
-
-
Hsu, L.1
Kaffe, S.2
Jenkins, E.3
Alonso, L.4
Benn, P.5
David, K.6
Hirschhorn, K.7
Lieber, E.8
Shanske, A.9
Shapiro, L.10
-
3
-
-
0030973681
-
Rare trisomy mosaicism diagnosed in amniocytes involving an autosome other than 13, 18, 20, and 21: Karyotype/phenotype correlations
-
Hsu L, Yu M, Neu R, Van Dyke D, Benn P, Bradshaw C, Shaffer L, Higgins R, Khodr G, Morton C, Wang H, Brothman A, Chadwick D, Dieteche C, Jenkins L, Kalousek D, Pantzar T, Wyatt P. 1997. Rare trisomy mosaicism diagnosed in amniocytes involving an autosome other than 13, 18, 20, and 21: Karyotype/phenotype correlations. Prenat Diagn 17:201-242.
-
(1997)
Prenat Diagn
, vol.17
, pp. 201-242
-
-
Hsu, L.1
Yu, M.2
Neu, R.3
Van Dyke, D.4
Benn, P.5
Bradshaw, C.6
Shaffer, L.7
Higgins, R.8
Khodr, G.9
Morton, C.10
Wang, H.11
Brothman, A.12
Chadwick, D.13
Dieteche, C.14
Jenkins, L.15
Kalousek, D.16
Pantzar, T.17
Wyatt, P.18
-
4
-
-
0029852041
-
Trisomy 7 CVS mosaicism: Pregnancy outcome, placental and DNA analysis in 14 cases
-
Kalousek D, Langlois S, Robinson W, Telenius A, Bernard L, Barrett I, Howard-Peebles P, Wilson R. 1996. Trisomy 7 CVS mosaicism: Pregnancy outcome, placental and DNA analysis in 14 cases. Am J Med Genet 65:348-352.
-
(1996)
Am J Med Genet
, vol.65
, pp. 348-352
-
-
Kalousek, D.1
Langlois, S.2
Robinson, W.3
Telenius, A.4
Bernard, L.5
Barrett, I.6
Howard-Peebles, P.7
Wilson, R.8
-
5
-
-
0034113750
-
Maternal uniparental disomy 7 - Review and further delineation of phenotype
-
Kotzot D, Balmer A, Baumer K, Chzanowska K, Hamel B, Ilyina H, Krajewska-Walasek M, Lurie I, Otten BJ, Schoenle E, Tariverdian G, Schinzel A. 2000. Maternal uniparental disomy 7 - review and further delineation of phenotype. Eur J Pediatr 159:247-256.
-
(2000)
Eur J Pediatr
, vol.159
, pp. 247-256
-
-
Kotzot, D.1
Balmer, A.2
Baumer, K.3
Chzanowska, K.4
Hamel, B.5
Ilyina, H.6
Krajewska-Walasek, M.7
Lurie, I.8
Otten, B.J.9
Schoenle, E.10
Tariverdian, G.11
Schinzel, A.12
-
6
-
-
0028867372
-
Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7
-
Langlois S, Young S, Wilson R, Kwong L, Kalousek D. 1995. Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7. J Med Genet 32:871-875.
-
(1995)
J Med Genet
, vol.32
, pp. 871-875
-
-
Langlois, S.1
Young, S.2
Wilson, R.3
Kwong, L.4
Kalousek, D.5
-
7
-
-
0034119613
-
Formation of uniparental disomy delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature
-
Mergenthaler S, Wollman H, Burger B, Eggerman K, Kaiser P, Ranke M, Schwanitz G, Eggerman T. 2000. Formation of uniparental disomy delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature. Annales de Genetique 43:15-21.
-
(2000)
Annales de Genetique
, vol.43
, pp. 15-21
-
-
Mergenthaler, S.1
Wollman, H.2
Burger, B.3
Eggerman, K.4
Kaiser, P.5
Ranke, M.6
Schwanitz, G.7
Eggerman, T.8
-
8
-
-
0031036341
-
Maternal uniparental disomy in Russell-Silver syndrome
-
Preece M, Price S, Davies V, Clough L, Stanier P, Trembath R, Moore G. 1997. Maternal uniparental disomy in Russell-Silver syndrome. Med Genet 34:6-9.
-
(1997)
Med Genet
, vol.34
, pp. 6-9
-
-
Preece, M.1
Price, S.2
Davies, V.3
Clough, L.4
Stanier, P.5
Trembath, R.6
Moore, G.7
-
9
-
-
0026749549
-
Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COLIA2 locus
-
Spotila L, Sereda L, Prockop D. 1992. Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COLIA2 locus. Am J Hum Genet 51:1386-1405.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1386-1405
-
-
Spotila, L.1
Sereda, L.2
Prockop, D.3
-
10
-
-
0024463137
-
Isodisomy of chromosome 7 in a patient with cystic fibrosis: Could uniparental disomy be common in humans?
-
Voss R, Ben-Simon E, Avital A, Godfrey S, Zlotogora J, Dagan J, Tikochinski Y, Hillel J. 1989. Isodisomy of chromosome 7 in a patient with cystic fibrosis: Could uniparental disomy be common in humans? Am J Hum Genet 45:373-380.
-
(1989)
Am J Hum Genet
, vol.45
, pp. 373-380
-
-
Voss, R.1
Ben-Simon, E.2
Avital, A.3
Godfrey, S.4
Zlotogora, J.5
Dagan, J.6
Tikochinski, Y.7
Hillel, J.8
|