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Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood.

Urology

Caputo M, Mele C, Zavattaro M, Samà MT, Giordano M, Umari P, Volpe A, Aimaretti G, Prodam F.
PMID: 31005658
Urology. 2019 Jul;129:68-70. doi: 10.1016/j.urology.2019.04.008. Epub 2019 Apr 18.

A 53-year-old male referred to our centre because of hypergonadotropic hypogonadism detected during urological follow-up for urethral lithiasis. Physical examination showed short stature, micropenis, ambiguous external genitalia, and normal secondary sexual characteristics. Karyotype: 45 × 0/46XY. Abdominal MRI revealed...

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Caputo M, Mele C, Zavattaro M, et al. Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood. Urology. 2019;129:68-70doi: 10.1016/j.urology.2019.04.008.
Caputo, M., Mele, C., Zavattaro, M., Samà, M. T., Giordano, M., Umari, P., Volpe, A., Aimaretti, G., & Prodam, F. (2019). Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood. Urology, 12968-70. https://doi.org/10.1016/j.urology.2019.04.008
Caputo, Marina, et al. "Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood." Urology vol. 129 (2019): 68-70. doi: https://doi.org/10.1016/j.urology.2019.04.008
Caputo M, Mele C, Zavattaro M, Samà MT, Giordano M, Umari P, Volpe A, Aimaretti G, Prodam F. Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood. Urology. 2019 Jul;129:68-70. doi: 10.1016/j.urology.2019.04.008. Epub 2019 Apr 18. PMID: 31005658.
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The karyotype of Adenia and the origin of the base number x = 12 in Passifloroideae (Passifloraceae).

Anais da Academia Brasileira de Ciencias

Melo NF, Guerra M.
PMID: 34614089
An Acad Bras Cienc. 2021 Sep 29;93:e20201852. doi: 10.1590/0001-3765202120201852. eCollection 2021.

Adenia is an Old World genus of Passifloroideae closely related to Passiflora. The two genera comprise the large majority of Passifloroideae species, although most studies are concentrated on Passiflora. Cytological analyses reveal that changes in chromosome numbers played an...

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Melo NF, Guerra M. The karyotype of Adenia and the origin of the base number x = 12 in Passifloroideae (Passifloraceae). An Acad Bras Cienc. 2021;93:e20201852doi: 10.1590/0001-3765202120201852.
Melo, N. F., & Guerra, M. (2021). The karyotype of Adenia and the origin of the base number x = 12 in Passifloroideae (Passifloraceae). Anais da Academia Brasileira de Ciencias, 93e20201852. https://doi.org/10.1590/0001-3765202120201852
Melo, Natoniel Franklin DE, and Guerra, Marcelo. "The karyotype of Adenia and the origin of the base number x = 12 in Passifloroideae (Passifloraceae)." Anais da Academia Brasileira de Ciencias vol. 93 (2021): e20201852. doi: https://doi.org/10.1590/0001-3765202120201852
Melo NF, Guerra M. The karyotype of Adenia and the origin of the base number x = 12 in Passifloroideae (Passifloraceae). An Acad Bras Cienc. 2021 Sep 29;93:e20201852. doi: 10.1590/0001-3765202120201852. eCollection 2021. PMID: 34614089.
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Array-comparative genomic hybridization characterization of human pluripotent stem cells.

Methods in molecular biology (Clifton, N.J.)

Elliott AM, Elliott KA, Kammesheidt A.
PMID: 22528361
Methods Mol Biol. 2012;873:261-7. doi: 10.1007/978-1-61779-794-1_17.

During culture adaptation, human embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs) tend to acquire chromosomal aberrations. Generally, stem cell lines are screened for large-scale chromosomal changes using low resolution karyotype analysis. Recent studies characterizing human stem...

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Elliott AM, Elliott KA, Kammesheidt A. Array-comparative genomic hybridization characterization of human pluripotent stem cells. Methods Mol Biol. 2012;873:261-7doi: 10.1007/978-1-61779-794-1_17.
Elliott, A. M., Elliott, K. A., & Kammesheidt, A. (2012). Array-comparative genomic hybridization characterization of human pluripotent stem cells. Methods in molecular biology (Clifton, N.J.), 873261-7. https://doi.org/10.1007/978-1-61779-794-1_17
Elliott, Aaron M, et al. "Array-comparative genomic hybridization characterization of human pluripotent stem cells." Methods in molecular biology (Clifton, N.J.) vol. 873 (2012): 261-7. doi: https://doi.org/10.1007/978-1-61779-794-1_17
Elliott AM, Elliott KA, Kammesheidt A. Array-comparative genomic hybridization characterization of human pluripotent stem cells. Methods Mol Biol. 2012;873:261-7. doi: 10.1007/978-1-61779-794-1_17. PMID: 22528361.
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Ovotesticular disorder of sex development with unusual karyotype: patient report.

Journal of pediatric endocrinology & metabolism : JPEM

Paula GB, Ribeiro Andrade JG, Guaragna-Filho G, Sewaybricker LE, Miranda ML, Maciel-Guerra AT, Guerra-Júnior G.
PMID: 25514326
J Pediatr Endocrinol Metab. 2015 May;28(5):677-80. doi: 10.1515/jpem-2014-0328.

BACKGROUND: Ovotesticular disorder of sex development (OT-DSD) (true hermaphroditism) is an anatomopathological diagnosis based on the findings of testicular and ovarian tissues in the same subject, in the same gonad (ovotestis), or in separate gonads. OT-DSD is a rare...

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Paula GB, Ribeiro Andrade JG, Guaragna-Filho G, et al. Ovotesticular disorder of sex development with unusual karyotype: patient report. J Pediatr Endocrinol Metab. 2015;28(5):677-80doi: 10.1515/jpem-2014-0328.
Paula, G. B., Ribeiro Andrade, J. G., Guaragna-Filho, G., Sewaybricker, L. E., Miranda, M. L., Maciel-Guerra, A. T., & Guerra-Júnior, G. (2015). Ovotesticular disorder of sex development with unusual karyotype: patient report. Journal of pediatric endocrinology & metabolism : JPEM, 28(5), 677-80. https://doi.org/10.1515/jpem-2014-0328
Paula, Georgette Beatriz, et al. "Ovotesticular disorder of sex development with unusual karyotype: patient report." Journal of pediatric endocrinology & metabolism : JPEM vol. 28,5 (2015): 677-80. doi: https://doi.org/10.1515/jpem-2014-0328
Paula GB, Ribeiro Andrade JG, Guaragna-Filho G, Sewaybricker LE, Miranda ML, Maciel-Guerra AT, Guerra-Júnior G. Ovotesticular disorder of sex development with unusual karyotype: patient report. J Pediatr Endocrinol Metab. 2015 May;28(5):677-80. doi: 10.1515/jpem-2014-0328. PMID: 25514326.
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Genome-Wide Array Analysis Reveals Novel Genomic Regions and Candidate Gene for Intellectual Disability.

Molecular diagnosis & therapy

Chen X, Li H, Chen C, Zhou L, Xu X, Xiang Y, Tang S.
PMID: 30259421
Mol Diagn Ther. 2018 Dec;22(6):749-757. doi: 10.1007/s40291-018-0358-4.

INTRODUCTION: Intellectual disability (ID) is often sporadic, and its complex etiology makes clinical diagnosis extremely difficult.OBJECTIVE: The aims of this study were to detect copy number variations (CNVs) in patients with ID and to analyze the correlation between pathogenic...

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Chen X, Li H, Chen C, et al. Genome-Wide Array Analysis Reveals Novel Genomic Regions and Candidate Gene for Intellectual Disability. Mol Diagn Ther. 2018;22(6):749-757doi: 10.1007/s40291-018-0358-4.
Chen, X., Li, H., Chen, C., Zhou, L., Xu, X., Xiang, Y., & Tang, S. (2018). Genome-Wide Array Analysis Reveals Novel Genomic Regions and Candidate Gene for Intellectual Disability. Molecular diagnosis & therapy, 22(6), 749-757. https://doi.org/10.1007/s40291-018-0358-4
Chen, Xiangnan, et al. "Genome-Wide Array Analysis Reveals Novel Genomic Regions and Candidate Gene for Intellectual Disability." Molecular diagnosis & therapy vol. 22,6 (2018): 749-757. doi: https://doi.org/10.1007/s40291-018-0358-4
Chen X, Li H, Chen C, Zhou L, Xu X, Xiang Y, Tang S. Genome-Wide Array Analysis Reveals Novel Genomic Regions and Candidate Gene for Intellectual Disability. Mol Diagn Ther. 2018 Dec;22(6):749-757. doi: 10.1007/s40291-018-0358-4. PMID: 30259421.
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Reconstruction of evolutionary trajectories of chromosomes unraveled independent genomic repatterning between Triticeae and Brachypodium.

BMC genomics

Wang Z, Wang J, Pan Y, Lei T, Ge W, Wang L, Zhang L, Li Y, Zhao K, Liu T, Song X, Zhang J, Yu J, Hu J, Wang X.
PMID: 30845910
BMC Genomics. 2019 Mar 07;20(1):180. doi: 10.1186/s12864-019-5566-8.

BACKGROUND: After polyploidization, a genome may experience large-scale genome-repatterning, featuring wide-spread DNA rearrangement and loss, and often chromosome number reduction. Grasses share a common tetraploidization, after which the originally doubled chromosome numbers reduced to different chromosome numbers among them....

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Wang Z, Wang J, Pan Y, et al. Reconstruction of evolutionary trajectories of chromosomes unraveled independent genomic repatterning between Triticeae and Brachypodium. BMC Genomics. 2019;20(1):180doi: 10.1186/s12864-019-5566-8.
Wang, Z., Wang, J., Pan, Y., Lei, T., Ge, W., Wang, L., Zhang, L., Li, Y., Zhao, K., Liu, T., Song, X., Zhang, J., Yu, J., Hu, J., & Wang, X. (2019). Reconstruction of evolutionary trajectories of chromosomes unraveled independent genomic repatterning between Triticeae and Brachypodium. BMC genomics, 20(1), 180. https://doi.org/10.1186/s12864-019-5566-8
Wang, Zhenyi, et al. "Reconstruction of evolutionary trajectories of chromosomes unraveled independent genomic repatterning between Triticeae and Brachypodium." BMC genomics vol. 20,1 (2019): 180. doi: https://doi.org/10.1186/s12864-019-5566-8
Wang Z, Wang J, Pan Y, Lei T, Ge W, Wang L, Zhang L, Li Y, Zhao K, Liu T, Song X, Zhang J, Yu J, Hu J, Wang X. Reconstruction of evolutionary trajectories of chromosomes unraveled independent genomic repatterning between Triticeae and Brachypodium. BMC Genomics. 2019 Mar 07;20(1):180. doi: 10.1186/s12864-019-5566-8. PMID: 30845910; PMCID: PMC6407190.
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ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation.

PloS one

Sante T, Vergult S, Volders PJ, Kloosterman WP, Trooskens G, De Preter K, Dheedene A, Speleman F, De Meyer T, Menten B.
PMID: 25503062
PLoS One. 2014 Dec 12;9(12):e113800. doi: 10.1371/journal.pone.0113800. eCollection 2014.

Structural genomic variations play an important role in human disease and phenotypic diversity. With the rise of high-throughput sequencing tools, mate-pair/paired-end/single-read sequencing has become an important technique for the detection and exploration of structural variation. Several analysis tools exist...

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Sante T, Vergult S, Volders PJ, et al. ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation. PLoS One. 2014;9(12):e113800doi: 10.1371/journal.pone.0113800.
Sante, T., Vergult, S., Volders, P. J., Kloosterman, W. P., Trooskens, G., De Preter, K., Dheedene, A., Speleman, F., De Meyer, T., & Menten, B. (2014). ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation. PloS one, 9(12), e113800. https://doi.org/10.1371/journal.pone.0113800
Sante, Tom, et al. "ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation." PloS one vol. 9,12 (2014): e113800. doi: https://doi.org/10.1371/journal.pone.0113800
Sante T, Vergult S, Volders PJ, Kloosterman WP, Trooskens G, De Preter K, Dheedene A, Speleman F, De Meyer T, Menten B. ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation. PLoS One. 2014 Dec 12;9(12):e113800. doi: 10.1371/journal.pone.0113800. eCollection 2014. PMID: 25503062; PMCID: PMC4264741.
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Showing 1 to 7 of 7 entries