-
1
-
-
0035659420
-
A rare case: Mosaic trisomy 22
-
Basaran N, Berkil H, Ay N, Durak B, Ataman C, Ozdemir M, Ozon YH, Kaya I. 2001. A rare case: Mosaic trisomy 22. Ann Genet 44:183-186.
-
(2001)
Ann Genet
, vol.44
, pp. 183-186
-
-
Basaran, N.1
Berkil, H.2
Ay, N.3
Durak, B.4
Ataman, C.5
Ozdemir, M.6
Ozon, Y.H.7
Kaya, I.8
-
2
-
-
0031977584
-
Prenatal confirmation of true fetal trisomy 22 mosaicism by fetal skin biopsy following normal fetal blood sampling
-
Berghella V, Wapner RJ, Yang-Feng T, Mahoney MJ. 1998. Prenatal confirmation of true fetal trisomy 22 mosaicism by fetal skin biopsy following normal fetal blood sampling. Prenat Diagn 18:384-389.
-
(1998)
Prenat Diagn
, vol.18
, pp. 384-389
-
-
Berghella, V.1
Wapner, R.J.2
Yang-Feng, T.3
Mahoney, M.J.4
-
3
-
-
0030752675
-
Mosaic trisomy 22: A case presentation and literature review of trisomy 22 phenotypes
-
Crowe CA, Schwartz S, Black CJ, Jaswaney V. 1997. Mosaic trisomy 22: A case presentation and literature review of trisomy 22 phenotypes. Am J Med Genet 71:406-413.
-
(1997)
Am J Med Genet
, vol.71
, pp. 406-413
-
-
Crowe, C.A.1
Schwartz, S.2
Black, C.J.3
Jaswaney, V.4
-
4
-
-
0031023227
-
Maternal uniparental disomy for chromosome 22 in a child with generalized mosaicism for trisomy 22
-
de Pater JM, Schuring-Blom GH, van den Bogaard R, van der Sijs-Bos CJ, Christiaens GC, Stoutenbeek P, Leschot NJ. 1997. Maternal uniparental disomy for chromosome 22 in a child with generalized mosaicism for trisomy 22. Prenat Diagn 17:81-86.
-
(1997)
Prenat Diagn
, vol.17
, pp. 81-86
-
-
de Pater, J.M.1
Schuring-Blom, G.H.2
van den Bogaard, R.3
van der Sijs-Bos, C.J.4
Christiaens, G.C.5
Stoutenbeek, P.6
Leschot, N.J.7
-
5
-
-
0019854434
-
Unilateral radial aplasia and trisomy 22 mosaicism
-
Dulitzky F, Shabtal F, Zlotogora J, Halbrecht I, Elian E. 1981. Unilateral radial aplasia and trisomy 22 mosaicism. J Med Genet 18:473-476.
-
(1981)
J Med Genet
, vol.18
, pp. 473-476
-
-
Dulitzky, F.1
Shabtal, F.2
Zlotogora, J.3
Halbrecht, I.4
Elian, E.5
-
6
-
-
11844255395
-
Mosaic trisomy 22: Report of a patient with normal intelligence
-
Florez L, Lacassie Y. 2005. Mosaic trisomy 22: Report of a patient with normal intelligence. Am J Med Genet Part A 132A:223-225.
-
(2005)
Am J Med Genet
, vol.132 A
, Issue.PART A
, pp. 223-225
-
-
Florez, L.1
Lacassie, Y.2
-
7
-
-
33744815237
-
Interstitial 1q43-q43 deletion with left ventricular noncompaction myocardium
-
Kanemoto N, Horigome H, Nakayama J, Ichida F, Xing Y, Buonadonna AL, Kanemoto K, Gentile M. 2006. Interstitial 1q43-q43 deletion with left ventricular noncompaction myocardium. Eur J Med Genet 49:247-253.
-
(2006)
Eur J Med Genet
, vol.49
, pp. 247-253
-
-
Kanemoto, N.1
Horigome, H.2
Nakayama, J.3
Ichida, F.4
Xing, Y.5
Buonadonna, A.L.6
Kanemoto, K.7
Gentile, M.8
-
8
-
-
0033613977
-
Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15
-
Kotzot D. 1999. Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15. Am J Med Genet 82:265-274.
-
(1999)
Am J Med Genet
, vol.82
, pp. 265-274
-
-
Kotzot, D.1
-
9
-
-
0029162269
-
Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis
-
Ledbetter DH, Engel E. 1995. Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 4:1757-1764.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1757-1764
-
-
Ledbetter, D.H.1
Engel, E.2
-
10
-
-
0023807569
-
Trisomy 22 mosaicism with normal blood chromosomes. Case report with literature review
-
Lessick ML, Szego K, Wong PW. 1988. Trisomy 22 mosaicism with normal blood chromosomes. Case report with literature review. Clin Pediatr (Phila) 27:451-454.
-
(1988)
Clin Pediatr (Phila)
, vol.27
, pp. 451-454
-
-
Lessick, M.L.1
Szego, K.2
Wong, P.W.3
-
11
-
-
0025295061
-
Trisomy 22 mosaicism limited to skin fibroblasts in a mentally retarded, dysmorphic girl
-
Lund HT, Tranebjaerg L. 1990. Trisomy 22 mosaicism limited to skin fibroblasts in a mentally retarded, dysmorphic girl. Acta Paediatr Scand 79:714-718.
-
(1990)
Acta Paediatr Scand
, vol.79
, pp. 714-718
-
-
Lund, H.T.1
Tranebjaerg, L.2
-
12
-
-
29344441240
-
Left ventricular non-compaction cardiomyopathy in association with trisomy 13
-
McMahon CJ, Chang AC, Pignatelli RH, Miller-Hance WC, Eble BK, Towbin JA, Denfield SW. 2005. Left ventricular non-compaction cardiomyopathy in association with trisomy 13. Pediatr Cardiol 26:477-479.
-
(2005)
Pediatr Cardiol
, vol.26
, pp. 477-479
-
-
McMahon, C.J.1
Chang, A.C.2
Pignatelli, R.H.3
Miller-Hance, W.C.4
Eble, B.K.5
Towbin, J.A.6
Denfield, S.W.7
-
15
-
-
0018340524
-
Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes
-
Pagon RA, Hall JG, Davenport SL, Aase J, Norwood TH, Hoehn HW. 1979. Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes. Am J Hum Genet 31:54-61.
-
(1979)
Am J Hum Genet
, vol.31
, pp. 54-61
-
-
Pagon, R.A.1
Hall, J.G.2
Davenport, S.L.3
Aase, J.4
Norwood, T.H.5
Hoehn, H.W.6
-
16
-
-
0032771725
-
Ventricular noncompaction and distal chromosome 5q deletion
-
Pauli RM, Scheib-Wixted S, Cripe L, Izumo S, Sekhon GS. 1999. Ventricular noncompaction and distal chromosome 5q deletion. Am J Med Genet 85:419-423.
-
(1999)
Am J Med Genet
, vol.85
, pp. 419-423
-
-
Pauli, R.M.1
Scheib-Wixted, S.2
Cripe, L.3
Izumo, S.4
Sekhon, G.S.5
-
18
-
-
18744382409
-
Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism
-
Robinson WP, McFadden DE, Barrett IJ, Kuchinka B, Penaherrera MS, Bruyere H, Best RG, Pedreira DAL, Langlois S, Kalousek DK. 2002. Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism. Prenat Diagn 22:1076-1085.
-
(2002)
Prenat Diagn
, vol.22
, pp. 1076-1085
-
-
Robinson, W.P.1
McFadden, D.E.2
Barrett, I.J.3
Kuchinka, B.4
Penaherrera, M.S.5
Bruyere, H.6
Best, R.G.7
Pedreira, D.A.L.8
Langlois, S.9
Kalousek, D.K.10
-
20
-
-
2942516016
-
Novel gene locus for autosomal dominant left ventricular non-compaction maps to chromosome 11p15
-
Sasse-Klaassen S, Probst S, Gerull B, Oechslin E, Nurnberg P, Heuser A, Jenni R, Hennies HC, Thierfelder L. 2004. Novel gene locus for autosomal dominant left ventricular non-compaction maps to chromosome 11p15. Circulation 109:2720-2723.
-
(2004)
Circulation
, vol.109
, pp. 2720-2723
-
-
Sasse-Klaassen, S.1
Probst, S.2
Gerull, B.3
Oechslin, E.4
Nurnberg, P.5
Heuser, A.6
Jenni, R.7
Hennies, H.C.8
Thierfelder, L.9
-
21
-
-
0019422087
-
Incomplete trisomy 22.III. Mosaic-trisomy 22 and the problem of full trisomy 22
-
Schinzel A. 1981. Incomplete trisomy 22.III. Mosaic-trisomy 22 and the problem of full trisomy 22. Hum Genet 56:269-273.
-
(1981)
Hum Genet
, vol.56
, pp. 269-273
-
-
Schinzel, A.1
-
23
-
-
34248578027
-
Left-ventricular non-compaction in a patient with monosomy 1p36
-
Thienpont B, Mertens L, Buyse G, Vermeesch JR, Devriendt K. 2007. Left-ventricular non-compaction in a patient with monosomy 1p36. Eur J Med Genet 50:233-236.
-
(2007)
Eur J Med Genet
, vol.50
, pp. 233-236
-
-
Thienpont, B.1
Mertens, L.2
Buyse, G.3
Vermeesch, J.R.4
Devriendt, K.5
-
24
-
-
1942422638
-
Ocular manifestations of mosaic trisomy 22: A case report and review of the literature
-
Thomas S, Parker M, Tan J, Duckett D, Woodruff G. 2004. Ocular manifestations of mosaic trisomy 22: A case report and review of the literature. Ophthalmic Genet 25:53-56.
-
(2004)
Ophthalmic Genet
, vol.25
, pp. 53-56
-
-
Thomas, S.1
Parker, M.2
Tan, J.3
Duckett, D.4
Woodruff, G.5
-
26
-
-
0022508825
-
Trisomy 22 mosaicism syndrome and Ullrich-Turner stigmata
-
Wertelecki W, Breg WR, Graham JM Jr, Iinuma K, Puck SM, Sergovich FR. 1986. Trisomy 22 mosaicism syndrome and Ullrich-Turner stigmata. Am J Med Genet 23:739-749.
-
(1986)
Am J Med Genet
, vol.23
, pp. 739-749
-
-
Wertelecki, W.1
Breg, W.R.2
Graham Jr, J.M.3
Iinuma, K.4
Puck, S.M.5
Sergovich, F.R.6
-
27
-
-
0028094709
-
Asymmetry and skin pigmentary anomalies in chromosome mosaicism
-
Woods CG, Bankier A, Curry J, Sheffield LJ, Slaney SF, Smith K, Voullaire L, Wellesley D. 1994. Asymmetry and skin pigmentary anomalies in chromosome mosaicism. J Med Genet 31:694-701.
-
(1994)
J Med Genet
, vol.31
, pp. 694-701
-
-
Woods, C.G.1
Bankier, A.2
Curry, J.3
Sheffield, L.J.4
Slaney, S.F.5
Smith, K.6
Voullaire, L.7
Wellesley, D.8
-
28
-
-
33646058879
-
Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity
-
Xing Y, Ichida F, Matsuoka T, Isobe T, Ikemoto Y, Higaki T, Tsuji T, Haneda N, Kuwabara A, Chen R, Futatani T, Tsubata S, Watanabe S, Watanabe K, Hirono K, Uese K, Miyawaki T, Bowles KR, Bowles NE, Towbin JA. 2006. Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity. Mol Genet Metab 88:71-77.
-
(2006)
Mol Genet Metab
, vol.88
, pp. 71-77
-
-
Xing, Y.1
Ichida, F.2
Matsuoka, T.3
Isobe, T.4
Ikemoto, Y.5
Higaki, T.6
Tsuji, T.7
Haneda, N.8
Kuwabara, A.9
Chen, R.10
Futatani, T.11
Tsubata, S.12
Watanabe, S.13
Watanabe, K.14
Hirono, K.15
Uese, K.16
Miyawaki, T.17
Bowles, K.R.18
Bowles, N.E.19
Towbin, J.A.20
more..
-
29
-
-
0021637660
-
Mosaicism or pseudomosaicism: The problem of hypermodal cells in amniotic fluid cell culture
-
Zhang YJ, Garver KL, Marchese SG, Diggans GR, Muracca-Clemens M, Flecker D. 1984. Mosaicism or pseudomosaicism: The problem of hypermodal cells in amniotic fluid cell culture. Prenat Diagn 4:99-108.
-
(1984)
Prenat Diagn
, vol.4
, pp. 99-108
-
-
Zhang, Y.J.1
Garver, K.L.2
Marchese, S.G.3
Diggans, G.R.4
Muracca-Clemens, M.5
Flecker, D.6
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