-
1
-
-
0026574505
-
Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding
-
Jacobs P.A., Browne C., Gregson N., Joyce C., White H. Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. J Med Genet 1992, 29:103-108.
-
(1992)
J Med Genet
, vol.29
, pp. 103-108
-
-
Jacobs, P.A.1
Browne, C.2
Gregson, N.3
Joyce, C.4
White, H.5
-
2
-
-
79953783581
-
Unbalanced reciprocal translocations at amniocentesis
-
Chen C.P., Lin C.J., Chern S.R., Tsai F.J., Lee C.C., Town D.D., et al. Unbalanced reciprocal translocations at amniocentesis. Taiwan J Obstet Gynecol 2011, 50:48-57.
-
(2011)
Taiwan J Obstet Gynecol
, vol.50
, pp. 48-57
-
-
Chen, C.P.1
Lin, C.J.2
Chern, S.R.3
Tsai, F.J.4
Lee, C.C.5
Town, D.D.6
-
3
-
-
78650632807
-
Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis
-
Hillman S.C., Pretlove S., Coomarasamy A., McMullan D.J., Davison E.V., Maher E.R., et al. Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 2011, 37:6-14.
-
(2011)
Ultrasound Obstet Gynecol
, vol.37
, pp. 6-14
-
-
Hillman, S.C.1
Pretlove, S.2
Coomarasamy, A.3
McMullan, D.J.4
Davison, E.V.5
Maher, E.R.6
-
4
-
-
84866314652
-
Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies
-
Epub ahead of print
-
Lee C.N., Lin S.Y., Lin C.H., Shih J.C., Lin T.H., Su Y.N. Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies. BJOG 2012 Feb 7, Epub ahead of print.
-
(2012)
BJOG
-
-
Lee, C.N.1
Lin, S.Y.2
Lin, C.H.3
Shih, J.C.4
Lin, T.H.5
Su, Y.N.6
-
5
-
-
84873984274
-
Array comparative genomic hybridization characterization of prenatally detected de novo appraently balanced reciprocal translocatios with or without genomic imbalanced in other chromosomes
-
in press.
-
Chen CP, Ma GC, Su YN, Ko TM, Lin YH, Wang W. Array comparative genomic hybridization characterization of prenatally detected de novo appraently balanced reciprocal translocatios with or without genomic imbalanced in other chromosomes. J Chin Med Assoc, in press.
-
J Chin Med Assoc
-
-
Chen, C.P.1
Ma, G.C.2
Su, Y.N.3
Ko, T.M.4
Lin, Y.H.5
Wang, W.6
-
6
-
-
84855220271
-
Wolf-Hirschhorn (4p-) syndrome: prenatal diagnosis, molecular cytogenetic characterization and association with a 1.2-Mb microduplication at 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with an apparently pure 4p deletion
-
Chen C.P., Su Y.N., Chen Y.Y., Su J.W., Chern S.R., Chen Y.T., et al. Wolf-Hirschhorn (4p-) syndrome: prenatal diagnosis, molecular cytogenetic characterization and association with a 1.2-Mb microduplication at 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with an apparently pure 4p deletion. Taiwan J Obstet Gynecol 2011, 50:506-511.
-
(2011)
Taiwan J Obstet Gynecol
, vol.50
, pp. 506-511
-
-
Chen, C.P.1
Su, Y.N.2
Chen, Y.Y.3
Su, J.W.4
Chern, S.R.5
Chen, Y.T.6
-
7
-
-
79951810239
-
Phenotypic manifestations of copy number variation in chromosome 16p13.11
-
Nagamani S.C., Erez A., Bader P., Lalani S.R., Scott D.A., Scaglia F., et al. Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet 2011, 19:280-286.
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 280-286
-
-
Nagamani, S.C.1
Erez, A.2
Bader, P.3
Lalani, S.R.4
Scott, D.A.5
Scaglia, F.6
-
8
-
-
65949097704
-
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
-
Hannes F.D., Sharp A.J., Mefford H.C., de Ravel T., Ruivenkamp C.A., Breuning M.H., et al. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet 2009, 46:223-232.
-
(2009)
J Med Genet
, vol.46
, pp. 223-232
-
-
Hannes, F.D.1
Sharp, A.J.2
Mefford, H.C.3
de Ravel, T.4
Ruivenkamp, C.A.5
Breuning, M.H.6
-
9
-
-
79955468664
-
Clinical report: AN INTERSTITIAL deletion of 16p13.11 detected by array CGH in a patient with infantile spasms
-
Balasubramanian M., Smith K., Mordekar S.R., Parker M.J. Clinical report: AN INTERSTITIAL deletion of 16p13.11 detected by array CGH in a patient with infantile spasms. Eur J Med Genet 2011, 54:314-318.
-
(2011)
Eur J Med Genet
, vol.54
, pp. 314-318
-
-
Balasubramanian, M.1
Smith, K.2
Mordekar, S.R.3
Parker, M.J.4
-
10
-
-
33745226965
-
Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
-
Ravnan J.B., Tepperberg J.H., Papenhausen P., Lamb A.N., Hedrick J., Eash D., et al. Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 2006, 43:478-489.
-
(2006)
J Med Genet
, vol.43
, pp. 478-489
-
-
Ravnan, J.B.1
Tepperberg, J.H.2
Papenhausen, P.3
Lamb, A.N.4
Hedrick, J.5
Eash, D.6
-
11
-
-
33748528078
-
Oesophageal atresia with a terminal deletion of chromosome 2q37.1
-
Masumoto K., Suita S., Taguchi T. Oesophageal atresia with a terminal deletion of chromosome 2q37.1. Clin Dysmorphol 2006, 15:213-216.
-
(2006)
Clin Dysmorphol
, vol.15
, pp. 213-216
-
-
Masumoto, K.1
Suita, S.2
Taguchi, T.3
-
12
-
-
0031981781
-
Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome
-
Viot-Szoboszlai G., Amiel J., Doz F., Prieur M., Couturier J., Zucker J.N., et al. Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome. Clin Genet 1998, 53:278-280.
-
(1998)
Clin Genet
, vol.53
, pp. 278-280
-
-
Viot-Szoboszlai, G.1
Amiel, J.2
Doz, F.3
Prieur, M.4
Couturier, J.5
Zucker, J.N.6
-
13
-
-
0029038024
-
Clinical phenotype associated with terminal 2q37 deletion
-
Conrad B., Dewald G., Christensen E., Lopez M., Higgins J., Pierpont M.E. Clinical phenotype associated with terminal 2q37 deletion. Clin Genet 1995, 48:134-139.
-
(1995)
Clin Genet
, vol.48
, pp. 134-139
-
-
Conrad, B.1
Dewald, G.2
Christensen, E.3
Lopez, M.4
Higgins, J.5
Pierpont, M.E.6
-
14
-
-
36348989543
-
Chromosome 2q37 deletion: clinical and molecular aspects
-
Falk R.E., Casas K.A. Chromosome 2q37 deletion: clinical and molecular aspects. Am J Med Genet C Semin Med Genet 2007, 145C:357-371.
-
(2007)
Am J Med Genet C Semin Med Genet
, vol.145 C
, pp. 357-371
-
-
Falk, R.E.1
Casas, K.A.2
-
15
-
-
0035341275
-
Holoprosencephaly associated with an apparent isolated 2q37.1-->2q37.3 deletion
-
Lehman N.L., Zaleski D.H., Sanger W.G., Adickes E.D. Holoprosencephaly associated with an apparent isolated 2q37.1-->2q37.3 deletion. Am J Med Genet 2001, 100:179-181.
-
(2001)
Am J Med Genet
, vol.100
, pp. 179-181
-
-
Lehman, N.L.1
Zaleski, D.H.2
Sanger, W.G.3
Adickes, E.D.4
-
16
-
-
77954733555
-
Deletion 2q37.3->qter and duplication 15q24.3->qter characterized by array CGH in a girl with epilepsy and dysmorphic features
-
Chen C.P., Lin S.P., Chern S.R., Tsai F.J., Wu P.C., Lee C.C., et al. Deletion 2q37.3->qter and duplication 15q24.3->qter characterized by array CGH in a girl with epilepsy and dysmorphic features. Genet Couns 2010, 21:263-267.
-
(2010)
Genet Couns
, vol.21
, pp. 263-267
-
-
Chen, C.P.1
Lin, S.P.2
Chern, S.R.3
Tsai, F.J.4
Wu, P.C.5
Lee, C.C.6
-
17
-
-
0026733359
-
Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy
-
Lin S.P., Petty E.M., Gibson L.H., Inserra J., Seashore M.R., Yang-Feng T.L. Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy. Am J Med Genet 1992, 44:500-502.
-
(1992)
Am J Med Genet
, vol.44
, pp. 500-502
-
-
Lin, S.P.1
Petty, E.M.2
Gibson, L.H.3
Inserra, J.4
Seashore, M.R.5
Yang-Feng, T.L.6
-
18
-
-
7444262409
-
Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals
-
Casas K.A., Mononen T.K., Mikail C.N., Hassed S.J., Li S., Mulvihill J.J., et al. Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals. Am J Med Genet A 2004, 130A:331-339.
-
(2004)
Am J Med Genet A
, vol.130 A
, pp. 331-339
-
-
Casas, K.A.1
Mononen, T.K.2
Mikail, C.N.3
Hassed, S.J.4
Li, S.5
Mulvihill, J.J.6
-
19
-
-
17944369777
-
Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus
-
Stankiewicz P., Thiele H., Baldermann C., Krüger A., Giannakudis I., Dörr S., et al. Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus. Am J Med Genet 2001, 103:56-62.
-
(2001)
Am J Med Genet
, vol.103
, pp. 56-62
-
-
Stankiewicz, P.1
Thiele, H.2
Baldermann, C.3
Krüger, A.4
Giannakudis, I.5
Dörr, S.6
-
20
-
-
0024418101
-
Emerging phenotype of duplication (7p): a report of three cases and review of the literature
-
Milunsky J.M., Wyandt H.E., Milunsky A. Emerging phenotype of duplication (7p): a report of three cases and review of the literature. Am J Med Genet 1989, 33:364-368.
-
(1989)
Am J Med Genet
, vol.33
, pp. 364-368
-
-
Milunsky, J.M.1
Wyandt, H.E.2
Milunsky, A.3
-
21
-
-
0028072102
-
Borderline intelligence and discrete craniofacial dysmorphism in an adolescent female with partial trisomy 7p due to a de novo tandem duplication 7 (p15.1-->p21.3)
-
Kleczkowska A., Decock P., van den Berghe H., Fryns J.P. Borderline intelligence and discrete craniofacial dysmorphism in an adolescent female with partial trisomy 7p due to a de novo tandem duplication 7 (p15.1-->p21.3). Genet Couns 1994, 5:393-397.
-
(1994)
Genet Couns
, vol.5
, pp. 393-397
-
-
Kleczkowska, A.1
Decock, P.2
van den Berghe, H.3
Fryns, J.P.4
-
22
-
-
0028899546
-
Trisomy 7p resulting from isochromosome formation and whole-arm translocation
-
Lurie I.W., Schwartz M.F., Schwartz S., Cohen M.M. Trisomy 7p resulting from isochromosome formation and whole-arm translocation. Am J Med Genet 1995, 55:62-66.
-
(1995)
Am J Med Genet
, vol.55
, pp. 62-66
-
-
Lurie, I.W.1
Schwartz, M.F.2
Schwartz, S.3
Cohen, M.M.4
-
23
-
-
0029840784
-
Further delineation of 7p trisomy. Case report and review of literature
-
Pallotta R., Dalprà L., Fusilli P., Zuffardi O. Further delineation of 7p trisomy. Case report and review of literature. Ann Genet 1996, 39:152-158.
-
(1996)
Ann Genet
, vol.39
, pp. 152-158
-
-
Pallotta, R.1
Dalprà, L.2
Fusilli, P.3
Zuffardi, O.4
-
24
-
-
78149395472
-
Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3-->pter) and partial monosomy 13q (13q33.3-->qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly
-
Chen C.P., Chen M., Su Y.N., Tsai F.J., Chern S.R., Hsu C.Y., et al. Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3-->pter) and partial monosomy 13q (13q33.3-->qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly. Taiwan J Obstet Gynecol 2010, 49:320-326.
-
(2010)
Taiwan J Obstet Gynecol
, vol.49
, pp. 320-326
-
-
Chen, C.P.1
Chen, M.2
Su, Y.N.3
Tsai, F.J.4
Chern, S.R.5
Hsu, C.Y.6
-
25
-
-
29544438985
-
Spectral karyotyping, fluorescence in situ hybridization and molecular genetic analysis of de novo partial trisomy 7p (7p15.1 --> pter) and partial monosomy 9p (9p22 --> pter)
-
Chen C.P., Lin S.P., Lin C.C., Li Y.C., Hsieh L.J., Chern S.R., et al. Spectral karyotyping, fluorescence in situ hybridization and molecular genetic analysis of de novo partial trisomy 7p (7p15.1 --> pter) and partial monosomy 9p (9p22 --> pter). Prenat Diagn 2005, 25:1170-1172.
-
(2005)
Prenat Diagn
, vol.25
, pp. 1170-1172
-
-
Chen, C.P.1
Lin, S.P.2
Lin, C.C.3
Li, Y.C.4
Hsieh, L.J.5
Chern, S.R.6
-
26
-
-
0034531625
-
Trisomy 7p: report of 2 patients and literature review
-
Arens Y.H., Toutain A., Engelen J.J., Offermans J.P., Hamers A.J., Schrander J.J., et al. Trisomy 7p: report of 2 patients and literature review. Genet Couns 2000, 11:347-354.
-
(2000)
Genet Couns
, vol.11
, pp. 347-354
-
-
Arens, Y.H.1
Toutain, A.2
Engelen, J.J.3
Offermans, J.P.4
Hamers, A.J.5
Schrander, J.J.6
-
27
-
-
0034709210
-
Trisomy 7p resulting from 7p15;9p24 translocation: report of a new case and review of associated medical complications
-
Kozma C., Haddad B.R., Meck J.M. Trisomy 7p resulting from 7p15;9p24 translocation: report of a new case and review of associated medical complications. Am J Med Genet 2000, 91:286-290.
-
(2000)
Am J Med Genet
, vol.91
, pp. 286-290
-
-
Kozma, C.1
Haddad, B.R.2
Meck, J.M.3
-
28
-
-
0030044465
-
Duplication of 7p: further delineation of the phenotype and restriction of the critical region to the distal part of the short arm
-
Reish O., Berry S.A., Dewald G., King R.A. Duplication of 7p: further delineation of the phenotype and restriction of the critical region to the distal part of the short arm. Am J Med Genet 1996, 61:21-25.
-
(1996)
Am J Med Genet
, vol.61
, pp. 21-25
-
-
Reish, O.1
Berry, S.A.2
Dewald, G.3
King, R.A.4
-
29
-
-
34247157202
-
Prenatal diagnosis of a fetus with partial trisomy 7p
-
Ozgun M.T., Batukan C., Basbug M., Akgun H., Caglayan O., Dundar M. Prenatal diagnosis of a fetus with partial trisomy 7p. Fetal Diagn Ther 2007, 22:229-232.
-
(2007)
Fetal Diagn Ther
, vol.22
, pp. 229-232
-
-
Ozgun, M.T.1
Batukan, C.2
Basbug, M.3
Akgun, H.4
Caglayan, O.5
Dundar, M.6
-
30
-
-
33750101826
-
Spectral karyotyping and fluorescence in situ hybridization analysis of de novo partial trisomy 7p (7p21.2-->pter) and partial monosomy 12q (12q24.33-->qter)
-
Chen C.P., Lin S.P., Lin C.C., Li Y.C., Hsieh L.J., Huang J.K., et al. Spectral karyotyping and fluorescence in situ hybridization analysis of de novo partial trisomy 7p (7p21.2-->pter) and partial monosomy 12q (12q24.33-->qter). Genet Couns 2006, 17:57-63.
-
(2006)
Genet Couns
, vol.17
, pp. 57-63
-
-
Chen, C.P.1
Lin, S.P.2
Lin, C.C.3
Li, Y.C.4
Hsieh, L.J.5
Huang, J.K.6
-
31
-
-
0025372495
-
De novo direct tandem duplication of the short arm of chromosome 7(p21.1-p14.2)
-
Debiec-Rychter M., Overhauser J., Kałuźewski B., Jakubowski L., Truszczak B., Wilson W., et al. De novo direct tandem duplication of the short arm of chromosome 7(p21.1-p14.2). Am J Med Genet 1990, 36:316-320.
-
(1990)
Am J Med Genet
, vol.36
, pp. 316-320
-
-
Debiec-Rychter, M.1
Overhauser, J.2
Kałuźewski, B.3
Jakubowski, L.4
Truszczak, B.5
Wilson, W.6
-
32
-
-
0035078623
-
Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes
-
Megarbane A., Le Lorc'H M., Elghezal H., Joly G., Gosset P., Souraty N., et al. Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes. J Med Genet 2001, 38:178-182.
-
(2001)
J Med Genet
, vol.38
, pp. 178-182
-
-
Megarbane, A.1
Le Lorc'H, M.2
Elghezal, H.3
Joly, G.4
Gosset, P.5
Souraty, N.6
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