-
1
-
-
0020609713
-
Duplication 9q34 syndrome
-
Allderdice PW, Eales B, Onyett H, Sprague W, Henderson K, Lefeuvre PA, Pal G (1983): Duplication 9q34 syndrome. Am J Hum Genet 35:1005-1019.
-
(1983)
Am J Hum Genet
, vol.35
, pp. 1005-1019
-
-
Allderdice, P.W.1
Eales, B.2
Onyett, H.3
Sprague, W.4
Henderson, K.5
Lefeuvre, P.A.6
Pal, G.7
-
2
-
-
0021131817
-
European collaborative study on prenatal diagnosis: Mosaicism, pseudomosaicism and single abnormal cells in amniotic fluid cell cultures
-
Bui T-H, Iselius L, Lindsten J (1984): European collaborative study on prenatal diagnosis: Mosaicism, pseudomosaicism and single abnormal cells in amniotic fluid cell cultures. Prenat Diagn 4:145-162.
-
(1984)
Prenat Diagn
, vol.4
, pp. 145-162
-
-
Bui, T.-H.1
Iselius, L.2
Lindsten, J.3
-
3
-
-
0023942233
-
Cytogenetic analysis of 688 couples experiencing multiple spontaneous abortions
-
Castle D, Bernstein R (1988): Cytogenetic analysis of 688 couples experiencing multiple spontaneous abortions. Am J Med Genet 29:549-556.
-
(1988)
Am J Med Genet
, vol.29
, pp. 549-556
-
-
Castle, D.1
Bernstein, R.2
-
4
-
-
0025770440
-
Balanced reciprocal translocation mosaicism: New cases and a literature review
-
Farrell SA (1991): Balanced reciprocal translocation mosaicism: New cases and a literature review. Am J Med Genet 40:345-347.
-
(1991)
Am J Med Genet
, vol.40
, pp. 345-347
-
-
Farrell, S.A.1
-
5
-
-
0028125704
-
Mosaicism with a normal cell line and an autosomal structural rearrangement
-
Gardner RJM, Dockery HE, Fitzgerald PH, Parfitt RG, Romain DR, Scobie N, Shaw RL, Tumewu P, Watt AJ (1994): Mosaicism with a normal cell line and an autosomal structural rearrangement. J Med Genet 31:108-114.
-
(1994)
J Med Genet
, vol.31
, pp. 108-114
-
-
Gardner, R.J.M.1
Dockery, H.E.2
Fitzgerald, P.H.3
Parfitt, R.G.4
Romain, D.R.5
Scobie, N.6
Shaw, R.L.7
Tumewu, P.8
Watt, A.J.9
-
6
-
-
0018289163
-
Complex de novo rearrangement of chromosome 9 with clinical features of monosomy 9p syndrome
-
Hoo JJ, Parslow MI, Shaw RL, Veale AMO (1979): Complex de novo rearrangement of chromosome 9 with clinical features of monosomy 9p syndrome. Clin Genet 16:151-155.
-
(1979)
Clin Genet
, vol.16
, pp. 151-155
-
-
Hoo, J.J.1
Parslow, M.I.2
Shaw, R.L.3
Veale, A.M.O.4
-
7
-
-
0017347991
-
Exclusion of chromosomal mosaicism: Tables of 90%, 95%, and 99% confidence limits, and comments on use
-
Hook EB (1977): Exclusion of chromosomal mosaicism: Tables of 90%, 95%, and 99% confidence limits, and comments on use. Am J Hum Genet 29:94-97.
-
(1977)
Am J Hum Genet
, vol.29
, pp. 94-97
-
-
Hook, E.B.1
-
8
-
-
0023117124
-
Rates of mutant and inherited structural cytogenetic abnormalities detected at amniocentesis: Results on about 63,000 fetuses
-
Hook EB, Cross PK (1987): Rates of mutant and inherited structural cytogenetic abnormalities detected at amniocentesis: Results on about 63,000 fetuses. Am J Hum Genet 51:27-55.
-
(1987)
Am J Hum Genet
, vol.51
, pp. 27-55
-
-
Hook, E.B.1
Cross, P.K.2
-
9
-
-
16944364034
-
Distal 9q trisomy syndrome: Report of the first Oriental case and literature review
-
Houdou S, Yorifugi T, Tsuruta S, Hashida K, Ohta S, Ieshima A (1987): Distal 9q trisomy syndrome: Report of the first Oriental case and literature review. Acta Neonatal Jpn 23:347-352.
-
(1987)
Acta Neonatal Jpn
, vol.23
, pp. 347-352
-
-
Houdou, S.1
Yorifugi, T.2
Tsuruta, S.3
Hashida, K.4
Ohta, S.5
Ieshima, A.6
-
10
-
-
0021634135
-
United States survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis
-
Hsu LYF, Perlis TE (1984): United States survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis. Prenat Diagn 4:97-130.
-
(1984)
Prenat Diagn
, vol.4
, pp. 97-130
-
-
Hsu, L.Y.F.1
Perlis, T.E.2
-
11
-
-
13344294391
-
Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: A collaborative study
-
Hsu LYF, Yu M-T, Richkind KE, Van Dyke DL, Crandall BF, Saxe DF, Khodr GS, Mennuti M, Stetten G, Miller WA, Priest JH (1996): Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: A collaborative study. Prenat Diagn 16:1-28.
-
(1996)
Prenat Diagn
, vol.16
, pp. 1-28
-
-
Hsu, L.Y.F.1
Yu, M.-T.2
Richkind, K.E.3
Van Dyke, D.L.4
Crandall, B.F.5
Saxe, D.F.6
Khodr, G.S.7
Mennuti, M.8
Stetten, G.9
Miller, W.A.10
Priest, J.H.11
-
12
-
-
0025364687
-
On the variable effect of mosaic normal/balanced chromosomal rearrangements in man
-
Kleczkowska A, Fryns JP, Van den Berghe H (1990): On the variable effect of mosaic normal/balanced chromosomal rearrangements in man. J Med Genet 27:505-507.
-
(1990)
J Med Genet
, vol.27
, pp. 505-507
-
-
Kleczkowska, A.1
Fryns, J.P.2
Van Den Berghe, H.3
-
13
-
-
0018840498
-
Pericentric inversion, inv(9) (p22 q32), in the father of a child with a duplication-deletion of chromosome 9 and gene dosage effect for adenylate kinase-1
-
Mattei JF, Mattei MG, Ardissone JP, Taramasco H, Giraud F (1980): Pericentric inversion, inv(9) (p22 q32), in the father of a child with a duplication-deletion of chromosome 9 and gene dosage effect for adenylate kinase-1. Clin Genet 17:129-136.
-
(1980)
Clin Genet
, vol.17
, pp. 129-136
-
-
Mattei, J.F.1
Mattei, M.G.2
Ardissone, J.P.3
Taramasco, H.4
Giraud, F.5
-
14
-
-
0024328057
-
Partial trisomy of distal 8q derived from mother with mosaic 8q23.3→24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I
-
Naritomi K, Hirayama K (1989): Partial trisomy of distal 8q derived from mother with mosaic 8q23.3→24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I. Hum Genet 82:199-201.
-
(1989)
Hum Genet
, vol.82
, pp. 199-201
-
-
Naritomi, K.1
Hirayama, K.2
-
16
-
-
33750390462
-
Isochromosome 9q in an infant exposed to ethanol prenatally
-
Sanders KJ, Gardner LI, Coplan J, Kalinowski DP, Mitter NS (1984): Isochromosome 9q in an infant exposed to ethanol prenatally. Am J Hum Genet [Suppl] 36:73.
-
(1984)
Am J Hum Genet [Suppl]
, vol.36
, pp. 73
-
-
Sanders, K.J.1
Gardner, L.I.2
Coplan, J.3
Kalinowski, D.P.4
Mitter, N.S.5
-
17
-
-
0023505007
-
Abnormal phenotype in a child with a "balanced" translocation 8/12 in mosaic state
-
Saura R, Longy M, Serville F, Chokairi O, Froute MF (1987): Abnormal phenotype in a child with a "balanced" translocation 8/12 in mosaic state. Am J Med Genet 28:1021-1023.
-
(1987)
Am J Med Genet
, vol.28
, pp. 1021-1023
-
-
Saura, R.1
Longy, M.2
Serville, F.3
Chokairi, O.4
Froute, M.F.5
-
18
-
-
0026129390
-
9p deletion and distal 9q duplication due to a paternal pericentric inversion 9(p22q32)
-
Sonoda T, Ohba K, Ohdo S, Sameshima K (1991): 9p deletion and distal 9q duplication due to a paternal pericentric inversion 9(p22q32). Jinrui Idengaku Zasshi 36:111-116.
-
(1991)
Jinrui Idengaku Zasshi
, vol.36
, pp. 111-116
-
-
Sonoda, T.1
Ohba, K.2
Ohdo, S.3
Sameshima, K.4
-
19
-
-
0027339968
-
Duplication 9q34→qter identified by chromosome painting
-
Spinner NB, Lucas JN, Poggensee M, Jaequette M, Schneider A (1993): Duplication 9q34→qter identified by chromosome painting. Am J Med Genet 45:609-613.
-
(1993)
Am J Med Genet
, vol.45
, pp. 609-613
-
-
Spinner, N.B.1
Lucas, J.N.2
Poggensee, M.3
Jaequette, M.4
Schneider, A.5
-
20
-
-
0021135603
-
A Canadian collaborative study of mosaicism in amniotic fluid cell culture
-
Worton RG, Stern R (1984): A Canadian collaborative study of mosaicism in amniotic fluid cell culture. Prenat Diagn 4:131-144.
-
(1984)
Prenat Diagn
, vol.4
, pp. 131-144
-
-
Worton, R.G.1
Stern, R.2
-
21
-
-
0027381005
-
Clinical, cytogenetic, and molecular evidence for an infant with Srnith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion
-
Zori RT, Lupski JR, Heju Z, Greenberg F, Killian JM, Gray BA, Driscoll DJ, Patel PI, Zackowski JL (1993): Clinical, cytogenetic, and molecular evidence for an infant with Srnith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. Am J Med Genet 47:504-511.
-
(1993)
Am J Med Genet
, vol.47
, pp. 504-511
-
-
Zori, R.T.1
Lupski, J.R.2
Heju, Z.3
Greenberg, F.4
Killian, J.M.5
Gray, B.A.6
Driscoll, D.J.7
Patel, P.I.8
Zackowski, J.L.9
|