Publications

 Aerts I, Lumbroso-Le RL, Gauthier-Villars M, Brisse H, et al. (2006). Retinoblastoma. Orphanet J. Rare Dis. 1: 31.http://dx.doi.org/10.1186/1750-1172-1-31PMid:16934146 PMCid:1586012 Antonelli CBG, Steinhorst F, Ribeiro KCB and Erwenne CM (2003). Evolução da terapêutica do retinoblastoma. Arq. Bras. Oftalmol. 66: 401-408.http://dx.doi.org/10.1590/S0004-27492003000400002 Chen D, Gallie BL and Squire JA (2001). Minimal regions of chromosomal imbalance in retinoblastoma detected by comparative genomic hybridization. Cancer Genet. Cytogenet. 129: 57-63.http://dx.doi.org/10.1016/S0165-4608(01)00427-7 Chintagumpala M, Chevez-Barrios P, Paysse EA, Plon SE, et al. (2007). Retinoblastoma: review of current management. Oncologist 12: 1237-1246.http://dx.doi.org/10.1634/theoncologist.12-10-1237PMid:17962617 Daly HA, Davison EV, Pearson AD, Reid MM, et al. (1987). Chromosomes of metastatic retinoblastoma. Arch. Dis. Child 62: 410-411.http://dx.doi.org/10.1136/adc.62.4.410PMid:3592733 PMCid:1778336 Erwenne CM, Antonelli CBG, Marback EF and Novaes PE (2003). Tratamento conservador em retinoblastoma intra-ocular. Arq. Bras. Oftalmol. 66: 791-795.http://dx.doi.org/10.1590/S0004-27492003000700011 Inoue S, Ravindranath Y, Ottenbreit MJ, Thompson RI, et al. (1974). Chromosomal analysis of metastatic retinoblastoma cells. Humangenetik 25: 111-118.http://dx.doi.org/10.1007/BF00283311PMid:4442883 Khurshid I, Naeem S, Bashir F and Lone A (2004). Retinoblastoma; Bone marrow infiltration - A study of 30 cases. Ann. King Edwar. Med. Coll. 10: 194-196. Linn MA (2005). Intraocular retinoblastoma: the case for a new group classification. Ophthalmol. Clin. North Am. 18: 41-53, viii.http://dx.doi.org/10.1016/j.ohc.2004.11.003PMid:15763190 Mairal A, Pinglier E, Gilbert E, Peter M, et al. (2000). Detection of chromosome imbalances in retinoblastoma by parallel karyotype and CGH analyses. Genes Chromosomes Cancer 28: 370-379.http://dx.doi.org/10.1002/1098-2264(200008)28:4<370::AID-GCC2>3.0.CO;2-8 Melamud A, Palekar R and Singh A (2006). Retinoblastoma. Am. Fam. Physician 73: 1039-1044.PMid:16570739 Oliveros O and Yunis E (1995). Chromosome evolution in retinoblastoma. Cancer Genet. Cytogenet. 82: 155-160.http://dx.doi.org/10.1016/0165-4608(94)00212-T Paderova J, Orlic-Milacic M, Yoshimoto M, da Cunha SG, et al. (2007). Novel 6p rearrangements and recurrent translocation breakpoints in retinoblastoma cell lines identified by spectral karyotyping and mBAND analyses. Cancer Genet. Cytogenet. 179: 102-111.http://dx.doi.org/10.1016/j.cancergencyto.2007.08.014PMid:18036396 

Beke A, Joo JG, Csaba A, Lazar L, et al. (2009). Incidence of chromosomal abnormalities in the presence of fetal subcutaneous oedema, such as nuchal oedema, cystic hygroma and non-immune hydrops. Fetal Diagn. Ther. 25: 83-92. http://dx.doi.org/10.1159/000201946 PMid:19218808   Bonioli E, Crisalli M, Monteverde R and Vianello MG (1981). Karyotype-phenotype correlation in partial trisomy 13. Report of a case due to maternal translocation. Am. J. Dis. Child 135: 1115-1117. PMid:7315808   Bourthoumieu S, Esclaire F, Terro F, Fiorenza M, et al. (2004). Two unusual chromosome aberrations ascertained by sonographic anomalies. Prenat. Diagn. 24: 219-223. http://dx.doi.org/10.1002/pd.839 PMid:15057957   Brown S, Gersen S, Anyane-Yeboa K and Warburton D (1993). Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am. J. Med. Genet. 45: 52-59. http://dx.doi.org/10.1002/ajmg.1320450115 PMid:8418661   Cekada S, Kilvain S, Brajenovic-Milic B, Brecevic L, et al. (1999). Partial trisomy 13q22→qter and monosomy 18q21→qter as a result of familial translocation. Acta Paediatr. 88: 675-678. http://dx.doi.org/10.1111/j.1651-2227.1999.tb00022.x PMid:10419257   Chen CP, Chern SR, Lee CC, Town DD, et al. (1999). Bilateral renal agenesis and fetal ascites in association with partial trisomy 13 and partial trisomy 16 due to a 3:1 segregation of maternal reciprocal translocation t(13;16)(q12.3; p13.2). Prenat. Diagn. 19: 783-786. http://dx.doi.org/10.1002/(SICI)1097-0223(199908)19:8<783::AID-PD635>3.0.CO;2-3   Chen CP, Chern SR, Hsu CY, Lee CC, et al. (2005a). Prenatal diagnosis of de novo partial trisomy 13q (13q22→qter) and partial monosomy 8p (8p23.3→pter) associated with holoprosencephaly, premaxillary agenesis, hexadactyly, and a hypoplastic left heart. Prenat. Diagn. 25: 334-336. http://dx.doi.org/10.1002/pd.1126 PMid:15849788   Chen CP, Lin SP, Lee CC, Chen WL, et al. (2005b). Perinatal findings of partial trisomy 13q (13q14.1→qter) resulting from paternal pericentric inversion of chromosome 13. Prenat. Diagn. 25: 527-528. http://dx.doi.org/10.1002/pd.1177 PMid:15966041   Chu TW, Teebi AS, Gibson L, Breg WR, et al. (1994). FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype. Am. J. Med. Genet. 52: 92-96. http://dx.doi.org/10.1002/ajmg.1320520118 PMid:7977471   Di Bella MA, Cali F, Seidita G, Mirisola M, et al. (2006). Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation. Am. J. Med. Genet. B Neuropsychiatr. Genet. 141B: 584-590. http://dx.doi.org/10.1002/ajmg.b.30328 PMid:16823807   Dries D, Baca K, Truss L and Dobin S (2003). Interstitial deletion of 13q and a 13;X chromosome translocation results in partial trisomy 13 and bilateral retinoblastoma. Ophthalmic Genet. 24: 175-180. http://dx.doi.org/10.1076/opge.24.3.175.15612 PMid:12868036   Greenberg F, Carpenter RJ and Ledbetter DH (1983). Cystic hygroma and hydrops fetalis in a fetus with trisomy 13. Clin. Genet. 24: 389-391. http://dx.doi.org/10.1111/j.1399-0004.1983.tb00091.x PMid:6652950   Hall HE, Chan ER, Collins A, Judis L, et al. (2007). The origin of trisomy 13. Am. J. Med. Genet. A 143A: 2242-2248. http://dx.doi.org/10.1002/ajmg.a.31913 PMid:17853475   Jones LA, Taysi K, Strauss AW and Hartmann AF (1979). Partial trisomy 13 as a result of de novo (6p;13q) translocation. Hum. Genet. 48: 245-249. http://dx.doi.org/10.1007/BF00286911 PMid:457146   Jotterand M and Juillard E (1976). A new case of trisomy for the distal part of 13q due to maternal translocation, t(9;13) (p21;q21). Hum. Genet. 33: 213-222. http://dx.doi.org/10.1007/BF00286845 PMid:964983   Kirchhoff M, Bisgaard AM, Stoeva R, Dimitrov B, et al. (2009). Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter. Am. J. Med. Genet. A 149A: 894-905. http://dx.doi.org/10.1002/ajmg.a.32814 PMid:19363806   Landrum BG, Johnson DE, Ferrara B, Boros SJ, et al. (1986). Hydrops fetalis and chromosomal trisomies. Am. J. Obstet. Gynecol. 154: 1114-1115. PMid:2939722   Lin HY, Lin SP, Chen YJ, Hsu CH, et al. (2007). Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985-2004. Pediatr. Int. 49: 380-386. http://dx.doi.org/10.1111/j.1442-200X.2007.02377.x PMid:17532840   Lukusa T, van den Berghe L, Smeets E and Fryns JP (1999). Proximal trisomy 13q and distal monosomy 8p in a dysmorphic and mentally retarded patient with an isodicentric chromosome 13q and a 13q/8p translocation chromosome. Ann. Genet. 42: 215-220. PMid:10674161   Marszal E, Jamroz E, Pilch J, Kluczewska E, et al. (2000). Agenesis of corpus callosum: clinical description and etiology. J. Child Neurol. 15: 401-405. http://dx.doi.org/10.1177/088307380001500609 PMid:10868784   Martin-Lucas MA, Perez-Castillo A, Abrisqueta JA, de Torres ML, et al. (1982). Partial trisomy 13 due to maternal translocation t(7;13)(p22q14). Ann. Genet. 25: 172-178. PMid:6982670   Mitchell JA, Packman S, Loughman WD, Fineman RM, et al. (1981). Deletions of different segments of the long arm of chromosome 4. Am. J. Med. Genet. 8: 73-89. http://dx.doi.org/10.1002/ajmg.1320080110 PMid:7246608   Nikolis J, Ivanovic K and Diklic V (1991). Partial trisomy 13q resulting from a paternal reciprocal Yq;13q translocation. J. Med. Genet. 28: 425-426. http://dx.doi.org/10.1136/jmg.28.6.425 PMid:1870103 PMCid:1016915   Nyberg DA, Mahony BS, Hegge FN, Hickok D, et al. (1991). Enlarged cisterna magna and the Dandy-Walker malformation: factors associated with chromosome abnormalities. Obstet. Gynecol. 77: 436-442. PMid:1992413   Quadrelli R, Quadrelli A, Milunsky A, Zou YS, et al. (2009). A 14-year follow-up of a case detected prenatally of partial trisomy 13q21.32-qter and monosomy 18q22.3-qter as a result of a maternal complex chromosome rearrangement involving chromosomes 6, 13, and 18. Genet. Test. Mol. Biomarkers 13: 387-393. http://dx.doi.org/10.1089/gtmb.2008.0120 PMid:19473082   Rao VV, Carpenter NJ, Gucsavas M, Coldwell J, et al. (1995). Partial trisomy 13q identified by sequential fluorescence in situ hybridization. Am. J. Med. Genet. 58: 50-53. http://dx.doi.org/10.1002/ajmg.1320580111 PMid:7573156   Ribacoba R, Menendez-Gonzalez M, Hernando I, Salas J, et al. (2008). Partial trisomy 13q22-qter associated to leukoencephalopathy and late onset generalised epilepsy. Int. Arch. Med. 1: 5. http://dx.doi.org/10.1186/1755-7682-1-5 PMid:18471271 PMCid:2391148   Rivas F, Rivera H, Plascencia ML, Ibarra B, et al. (1984). The phenotype in partial 13q trisomies, apropos of a familial (13;15)(q22;q26) translocation. Hum. Genet. 67: 86-93. http://dx.doi.org/10.1007/BF00270563 PMid:6745930   Rodriguez de Alba M, Sanz R, Lorda-Sanchez I, Férnandez-Moya JM, et al. (1999). Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation. Prenat. Diagn. 19: 884-886. http://dx.doi.org/10.1002/(SICI)1097-0223(199909)19:9<884::AID-PD655>3.0.CO;2-W   Russell Z, Kontopoulos EV, Quintero RA, DeBauche DM, et al. (2008). Prenatal diagnosis of a 4q33-4qter deletion in a fetus with hydrops. Fetal Diagn. Ther. 24: 250-253. http://dx.doi.org/10.1159/000151671 PMid:18765938   Tharapel SA, Lewandowski RC, Tharapel AT and Wilroy RS Jr (1986). Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13. J. Med. Genet. 23: 310-315. http://dx.doi.org/10.1136/jmg.23.4.310 PMid:3746829 PMCid:1049695   Williamson EM, Miller JF and Seabright M (1980). Pericentric inversion (13) with two different recombinants in the same family. J. Med. Genet. 17: 309-312. http://dx.doi.org/10.1136/jmg.17.4.309 PMid:7205907 PMCid:1048576   Yu J, Wu JM, Lin SJ and Tzeng CC (1995). Congenital isolated absence of pulmonary valve in a neonate with partial trisomy 13q. Zhonghua Min Guo. Xiao. Er. Ke. Yi. Xue. Hui. Za Zhi. 36: 214-216. PMid:7618474