-
1
-
-
0027422825
-
Molecular analysis of the 18q-syndrome and correlation with phenotype
-
Kline AD, White ME, Wapner R, et al. Molecular analysis of the 18q-syndrome and correlation with phenotype. Am J Hum Genet 1993, 52:895-906.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 895-906
-
-
Kline, A.D.1
White, M.E.2
Wapner, R.3
-
2
-
-
0028987089
-
The 18q-syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2
-
Silverman GA, Schneider SS, Massa HF, et al. The 18q-syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2. Am J Hum Genet 1995, 56:926-937.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 926-937
-
-
Silverman, G.A.1
Schneider, S.S.2
Massa, H.F.3
-
3
-
-
0028871377
-
Analysis of clinical variation seen in patients with 18q terminal deletions
-
Strathdee G, Zackai EH, Shapiro R, Kamholz J, Overhauser J Analysis of clinical variation seen in patients with 18q terminal deletions. Am J Med Genet 1995, 59:476-483.
-
(1995)
Am J Med Genet
, vol.59
, pp. 476-483
-
-
Strathdee, G.1
Zackai, E.H.2
Shapiro, R.3
Kamholz, J.4
Overhauser, J.5
-
4
-
-
0001441096
-
Délétion partielle du bras long du chromosome 18
-
de Grouchy J, Royer P, Salmon C, Lamy M Délétion partielle du bras long du chromosome 18. Pathol Biol 1964, 12:579-582.
-
(1964)
Pathol Biol
, vol.12
, pp. 579-582
-
-
de Grouchy, J.1
Royer, P.2
Salmon, C.3
Lamy, M.4
-
5
-
-
0001543372
-
Chromosome 18, monosomy 18q
-
Blackwell Scientific Publications, Cambridge, M.L. Buyse (Ed.)
-
Greenberg F Chromosome 18, monosomy 18q. Birth Defect Encyclopedia 1990, 382-383. Blackwell Scientific Publications, Cambridge. M.L. Buyse (Ed.).
-
(1990)
Birth Defect Encyclopedia
, pp. 382-383
-
-
Greenberg, F.1
-
6
-
-
0031008140
-
Prenatal diagnosis of a deletion of 18q in a fetus associated with multiple-maker screen positive results
-
Chen CP, Chern SR, Liu FF, Jan SW, Lee CC, Chang YC, Yue CT Prenatal diagnosis of a deletion of 18q in a fetus associated with multiple-maker screen positive results. Prenat Diagn 1997, 17:571-576.
-
(1997)
Prenat Diagn
, vol.17
, pp. 571-576
-
-
Chen, C.P.1
Chern, S.R.2
Liu, F.F.3
Jan, S.W.4
Lee, C.C.5
Chang, Y.C.6
Yue, C.T.7
-
7
-
-
0344406925
-
Prenatal diagnosis of de novo mosaic distal 18q deletion associated with congenital anomalies
-
Chen CP, Tzen CY, Chang TY, et al. Prenatal diagnosis of de novo mosaic distal 18q deletion associated with congenital anomalies. Ultrasound Obstet Gynecol 2003, 21:202-204.
-
(2003)
Ultrasound Obstet Gynecol
, vol.21
, pp. 202-204
-
-
Chen, C.P.1
Tzen, C.Y.2
Chang, T.Y.3
-
8
-
-
33344464033
-
Prenatal diagnosis of pure distal 18q deletion
-
Chen CP, Chern SR, Hung FY, et al. Prenatal diagnosis of pure distal 18q deletion. Prenat Diagn 2006, 26:184-185.
-
(2006)
Prenat Diagn
, vol.26
, pp. 184-185
-
-
Chen, C.P.1
Chern, S.R.2
Hung, F.Y.3
-
9
-
-
33748283545
-
Direct transmission of the 18q-syndrome from mother to daughter
-
Chen CP, Lin SP, Chern SR, Lee CC, Huang JK, Wang W Direct transmission of the 18q-syndrome from mother to daughter. Genet Counsel 2006, 17:185-189.
-
(2006)
Genet Counsel
, vol.17
, pp. 185-189
-
-
Chen, C.P.1
Lin, S.P.2
Chern, S.R.3
Lee, C.C.4
Huang, J.K.5
Wang, W.6
-
10
-
-
0030950952
-
Preferential loss of the paternal alleles in the 18q-syndrome
-
Cody JD, Pierce JF, Brkanac Z, Plaetke R, Ghidoni PD, Kaye CI, Leach RJ Preferential loss of the paternal alleles in the 18q-syndrome. Am J Med Genet 1997, 69:280-286.
-
(1997)
Am J Med Genet
, vol.69
, pp. 280-286
-
-
Cody, J.D.1
Pierce, J.F.2
Brkanac, Z.3
Plaetke, R.4
Ghidoni, P.D.5
Kaye, C.I.6
Leach, R.J.7
-
11
-
-
0033609907
-
Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q
-
Cody JD, Ghidoni PD, Dupont BR, et al. Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q. Am J Med Genet 1999, 85:455-462.
-
(1999)
Am J Med Genet
, vol.85
, pp. 455-462
-
-
Cody, J.D.1
Ghidoni, P.D.2
Dupont, B.R.3
-
12
-
-
34547615984
-
Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map
-
Feenstra I, Vissers LELM, Orsel M, et al. Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map. Am J Med Genet 2007, 143A:1858-1867.
-
(2007)
Am J Med Genet
, vol.143 A
, pp. 1858-1867
-
-
Feenstra, I.1
Vissers, L.E.L.M.2
Orsel, M.3
-
14
-
-
0034987246
-
Prenatal diagnosis of partial monosomy 18p (18p11.2→pter) and trisomy 21q (21q22.3→qter) with alobar holoprosencephaly and pre-maxilary agenesis
-
Chen CP, Chern SR, Wang W, et al. Prenatal diagnosis of partial monosomy 18p (18p11.2→pter) and trisomy 21q (21q22.3→qter) with alobar holoprosencephaly and pre-maxilary agenesis. Prenat Diagn 2001, 21:346-350.
-
(2001)
Prenat Diagn
, vol.21
, pp. 346-350
-
-
Chen, C.P.1
Chern, S.R.2
Wang, W.3
-
15
-
-
33744829020
-
Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation
-
Wester U, Bondeson ML, Edeby C, Annerén G Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation. Am J Med Genet 2006, 140A:1164-1171.
-
(2006)
Am J Med Genet
, vol.140 A
, pp. 1164-1171
-
-
Wester, U.1
Bondeson, M.L.2
Edeby, C.3
Annerén, G.4
-
16
-
-
0035399675
-
Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18
-
Stankiewicz P, Brozek I, Hélias-Rodzewicz Z, et al. Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18. Am J Med Genet 2001, 101:226-239.
-
(2001)
Am J Med Genet
, vol.101
, pp. 226-239
-
-
Stankiewicz, P.1
Brozek, I.2
Hélias-Rodzewicz, Z.3
-
17
-
-
77949498680
-
22q11.2 microdeletion in a fetus with double-outlet right ventricle, pulmonary stenosis and a ventricular septal defect: prenatal diagnosis by array comparative ge-nomic hybridization
-
Chen CP, Su YN, Chang TY, Chern SR, Tsai FJ, Hwang JK, Wang W 22q11.2 microdeletion in a fetus with double-outlet right ventricle, pulmonary stenosis and a ventricular septal defect: prenatal diagnosis by array comparative ge-nomic hybridization. Taiwan J Obstet Gynecol 2009, 48:437-440.
-
(2009)
Taiwan J Obstet Gynecol
, vol.48
, pp. 437-440
-
-
Chen, C.P.1
Su, Y.N.2
Chang, T.Y.3
Chern, S.R.4
Tsai, F.J.5
Hwang, J.K.6
Wang, W.7
-
18
-
-
77949498196
-
Terminal 2q deletion and distal 15q duplication: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes
-
Chen C-P, Su Y-N, Tsai F-J, et al. Terminal 2q deletion and distal 15q duplication: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes. Taiwan J Obstet Gynecol 2009, 48:441-445.
-
(2009)
Taiwan J Obstet Gynecol
, vol.48
, pp. 441-445
-
-
Chen, C.-P.1
Su, Y.-N.2
Tsai, F.-J.3
-
19
-
-
33845274890
-
Detection of low-level mosaicism by array CGH in routine diagnostic specimens
-
Ballif BC, Rorem EA, Sundin K, et al. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet 2006, 140A:2757-2767.
-
(2006)
Am J Med Genet
, vol.140 A
, pp. 2757-2767
-
-
Ballif, B.C.1
Rorem, E.A.2
Sundin, K.3
-
20
-
-
33746167778
-
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
-
Shaffer LG, Kashork CD, Saleki R, Rorem E, Sundin K, Ballif BC, Bejjani BA Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 2006, 149:98-102.
-
(2006)
J Pediatr
, vol.149
, pp. 98-102
-
-
Shaffer, L.G.1
Kashork, C.D.2
Saleki, R.3
Rorem, E.4
Sundin, K.5
Ballif, B.C.6
Bejjani, B.A.7
-
21
-
-
67349168266
-
The 18q deletion syndrome and analysis of the critical region for orofacial cleft at 18q22.3
-
Dostal A, Nemeckova J, Gaillyova R The 18q deletion syndrome and analysis of the critical region for orofacial cleft at 18q22.3. J Craniomaxillofac Surg 2009, 37:272-275.
-
(2009)
J Craniomaxillofac Surg
, vol.37
, pp. 272-275
-
-
Dostal, A.1
Nemeckova, J.2
Gaillyova, R.3
-
22
-
-
0028889260
-
Physical mapping of the holoprosencephaly critical region in 18p11.3
-
Overhauser J, Mitchell HF, Zackai EH, Tick DB, Rojas K, Muenke M Physical mapping of the holoprosencephaly critical region in 18p11.3. Am J Hum Genet 1995, 57:1080-1085.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1080-1085
-
-
Overhauser, J.1
Mitchell, H.F.2
Zackai, E.H.3
Tick, D.B.4
Rojas, K.5
Muenke, M.6
-
23
-
-
0002145385
-
Mutations in the transcription factor TGIF in holoprosencephaly
-
Gripp KW, Edwards MC, Mowat D, et al. Mutations in the transcription factor TGIF in holoprosencephaly. Am J Hum Genet 1998, 63:A32.
-
(1998)
Am J Hum Genet
, vol.63
-
-
Gripp, K.W.1
Edwards, M.C.2
Mowat, D.3
-
24
-
-
34548446469
-
Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients
-
Portnoï MF, Gruchy N, Marlin S, et al. Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients. Clin Dysmorphol 2007, 16:247-252.
-
(2007)
Clin Dysmorphol
, vol.16
, pp. 247-252
-
-
Portnoï, M.F.1
Gruchy, N.2
Marlin, S.3
-
25
-
-
0032732443
-
The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant portion of autosomal dominant holoprosencephaly
-
Nanni L, Ming JE, Bocian M, et al. The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant portion of autosomal dominant holoprosencephaly. Hum Mol Genet 1999, 8:2479-2488.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2479-2488
-
-
Nanni, L.1
Ming, J.E.2
Bocian, M.3
-
26
-
-
0026485539
-
Prenatal diagnosis of monosomy 18 and ring chromosome 18 mosaicism
-
Eiben B, Unger M, Stoltenberg G, et al. Prenatal diagnosis of monosomy 18 and ring chromosome 18 mosaicism. Prenat Diagn 1992, 12:945-950.
-
(1992)
Prenat Diagn
, vol.12
, pp. 945-950
-
-
Eiben, B.1
Unger, M.2
Stoltenberg, G.3
-
27
-
-
0034924452
-
Complete karyotype discrepancy between placental and fetal cells in a case of ring chromosome 18
-
Fischer W, Dermitzel A, Osmers R, Pruggmayer M Complete karyotype discrepancy between placental and fetal cells in a case of ring chromosome 18. Prenat Diagn 2001, 21:481-483.
-
(2001)
Prenat Diagn
, vol.21
, pp. 481-483
-
-
Fischer, W.1
Dermitzel, A.2
Osmers, R.3
Pruggmayer, M.4
-
28
-
-
35549002130
-
Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18
-
Carreira IM, Mascarenhas A, Matoso E, et al. Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18. J Histochem Cytochem 2007, 55:1123-1128.
-
(2007)
J Histochem Cytochem
, vol.55
, pp. 1123-1128
-
-
Carreira, I.M.1
Mascarenhas, A.2
Matoso, E.3
-
29
-
-
56149089821
-
Clinical course of a 20-month-old child diagnosed prenatally with mosaic ring chromosome 18 and monosomy 18
-
331
-
Mello AL, Crotwell PL, Flanagan JD, et al. Clinical course of a 20-month-old child diagnosed prenatally with mosaic ring chromosome 18 and monosomy 18. S D Med 2008, 61:327-329. 331.
-
(2008)
S D Med
, vol.61
, pp. 327-329
-
-
Mello, A.L.1
Crotwell, P.L.2
Flanagan, J.D.3
|