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Showing 1 to 12 of 843 entries
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Non-invasive prenatal diagnosis using massively parallel sequencing - first experience in Germany.

Molecular cytogenetics

Wegner RD, Stumm M, Hofmann W.
PMID: 24955117
Mol Cytogenet. 2014 Jan 21;7:I14. doi: 10.1186/1755-8166-7-S1-I14. eCollection 2014.

No abstract available.

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Wegner RD, Stumm M, Hofmann W. Non-invasive prenatal diagnosis using massively parallel sequencing - first experience in Germany. Mol Cytogenet. 2014;7:I14doi: 10.1186/1755-8166-7-S1-I14.
Wegner, R. D., Stumm, M., & Hofmann, W. (2014). Non-invasive prenatal diagnosis using massively parallel sequencing - first experience in Germany. Molecular cytogenetics, 7I14. https://doi.org/10.1186/1755-8166-7-S1-I14
Wegner, Rolf-Dieter, et al. "Non-invasive prenatal diagnosis using massively parallel sequencing - first experience in Germany." Molecular cytogenetics vol. 7 (2014): I14. doi: https://doi.org/10.1186/1755-8166-7-S1-I14
Wegner RD, Stumm M, Hofmann W. Non-invasive prenatal diagnosis using massively parallel sequencing - first experience in Germany. Mol Cytogenet. 2014 Jan 21;7:I14. doi: 10.1186/1755-8166-7-S1-I14. eCollection 2014. PMID: 24955117; PMCID: PMC4045148.
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Unlocking the chemistry of bile acids for cancer therapeutics.

Molecular cytogenetics

Bajaj A.
PMID: 24955124
Mol Cytogenet. 2014 Jan 21;7:I48. doi: 10.1186/1755-8166-7-S1-I48. eCollection 2014.

No abstract available.

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Bajaj A. Unlocking the chemistry of bile acids for cancer therapeutics. Mol Cytogenet. 2014;7:I48doi: 10.1186/1755-8166-7-S1-I48.
Bajaj, A. (2014). Unlocking the chemistry of bile acids for cancer therapeutics. Molecular cytogenetics, 7I48. https://doi.org/10.1186/1755-8166-7-S1-I48
Bajaj, Avinash. "Unlocking the chemistry of bile acids for cancer therapeutics." Molecular cytogenetics vol. 7 (2014): I48. doi: https://doi.org/10.1186/1755-8166-7-S1-I48
Bajaj A. Unlocking the chemistry of bile acids for cancer therapeutics. Mol Cytogenet. 2014 Jan 21;7:I48. doi: 10.1186/1755-8166-7-S1-I48. eCollection 2014. PMID: 24955124; PMCID: PMC4045198.
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Challenges in prenatal and pre-implantation genetic diagnosis studies.

Molecular cytogenetics

Madon P.
PMID: 24955125
Mol Cytogenet. 2014 Jan 21;7:I50. doi: 10.1186/1755-8166-7-S1-I50. eCollection 2014.

No abstract available.

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Madon P. Challenges in prenatal and pre-implantation genetic diagnosis studies. Mol Cytogenet. 2014;7:I50doi: 10.1186/1755-8166-7-S1-I50.
Madon, P. (2014). Challenges in prenatal and pre-implantation genetic diagnosis studies. Molecular cytogenetics, 7I50. https://doi.org/10.1186/1755-8166-7-S1-I50
Madon, Prochi. "Challenges in prenatal and pre-implantation genetic diagnosis studies." Molecular cytogenetics vol. 7 (2014): I50. doi: https://doi.org/10.1186/1755-8166-7-S1-I50
Madon P. Challenges in prenatal and pre-implantation genetic diagnosis studies. Mol Cytogenet. 2014 Jan 21;7:I50. doi: 10.1186/1755-8166-7-S1-I50. eCollection 2014. PMID: 24955125; PMCID: PMC4045598.
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STR Markers in clinics: a rapid prenatal diagnosis by quantitative fluorescent-pcr for aneuploidies.

Molecular cytogenetics

Agarwal S, Srinivasan M, Phadke S.
PMID: 24955126
Mol Cytogenet. 2014 Jan 21;7:I58. doi: 10.1186/1755-8166-7-S1-I58. eCollection 2014.

No abstract available.

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Agarwal S, Srinivasan M, Phadke S. STR Markers in clinics: a rapid prenatal diagnosis by quantitative fluorescent-pcr for aneuploidies. Mol Cytogenet. 2014;7:I58doi: 10.1186/1755-8166-7-S1-I58.
Agarwal, S., Srinivasan, M., & Phadke, S. (2014). STR Markers in clinics: a rapid prenatal diagnosis by quantitative fluorescent-pcr for aneuploidies. Molecular cytogenetics, 7I58. https://doi.org/10.1186/1755-8166-7-S1-I58
Agarwal, Sarita, et al. "STR Markers in clinics: a rapid prenatal diagnosis by quantitative fluorescent-pcr for aneuploidies." Molecular cytogenetics vol. 7 (2014): I58. doi: https://doi.org/10.1186/1755-8166-7-S1-I58
Agarwal S, Srinivasan M, Phadke S. STR Markers in clinics: a rapid prenatal diagnosis by quantitative fluorescent-pcr for aneuploidies. Mol Cytogenet. 2014 Jan 21;7:I58. doi: 10.1186/1755-8166-7-S1-I58. eCollection 2014. PMID: 24955126; PMCID: PMC4045118.
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An empirical assay for assessing genomic sensitivity and for improving cancer diagnostics.

Molecular cytogenetics

Anderson D.
PMID: 24955127
Mol Cytogenet. 2014 Jan 21;7:I7. doi: 10.1186/1755-8166-7-S1-I7. eCollection 2014.

No abstract available.

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Anderson D. An empirical assay for assessing genomic sensitivity and for improving cancer diagnostics. Mol Cytogenet. 2014;7:I7doi: 10.1186/1755-8166-7-S1-I7.
Anderson, D. (2014). An empirical assay for assessing genomic sensitivity and for improving cancer diagnostics. Molecular cytogenetics, 7I7. https://doi.org/10.1186/1755-8166-7-S1-I7
Anderson, Diana. "An empirical assay for assessing genomic sensitivity and for improving cancer diagnostics." Molecular cytogenetics vol. 7 (2014): I7. doi: https://doi.org/10.1186/1755-8166-7-S1-I7
Anderson D. An empirical assay for assessing genomic sensitivity and for improving cancer diagnostics. Mol Cytogenet. 2014 Jan 21;7:I7. doi: 10.1186/1755-8166-7-S1-I7. eCollection 2014. PMID: 24955127; PMCID: PMC4045592.
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Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data.

Molecular cytogenetics

Yao R, Zhang C, Yu T, Li N, Hu X, Wang X, Wang J, Shen Y.
PMID: 28852425
Mol Cytogenet. 2017 Aug 23;10:30. doi: 10.1186/s13039-017-0333-5. eCollection 2017.

BACKGROUND: Whole exome sequencing (WES) has been widely accepted as a robust and cost-effective approach for clinical genetic testing of small sequence variants. Detection of copy number variants (CNV) within WES data have become possible through the development of...

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Yao R, Zhang C, Yu T, et al. Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data. Mol Cytogenet. 2017;10:30doi: 10.1186/s13039-017-0333-5.
Yao, R., Zhang, C., Yu, T., Li, N., Hu, X., Wang, X., Wang, J., & Shen, Y. (2017). Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data. Molecular cytogenetics, 1030. https://doi.org/10.1186/s13039-017-0333-5
Yao, Ruen, et al. "Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data." Molecular cytogenetics vol. 10 (2017): 30. doi: https://doi.org/10.1186/s13039-017-0333-5
Yao R, Zhang C, Yu T, Li N, Hu X, Wang X, Wang J, Shen Y. Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data. Mol Cytogenet. 2017 Aug 23;10:30. doi: 10.1186/s13039-017-0333-5. eCollection 2017. PMID: 28852425; PMCID: PMC5569469.
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The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability.

Molecular cytogenetics

Ha K, Shen Y, Graves T, Kim CH, Kim HG.
PMID: 27708714
Mol Cytogenet. 2016 Sep 29;9:74. doi: 10.1186/s13039-016-0286-0. eCollection 2016.

BACKGROUND: 1q21 microdeletion syndrome is a rare contiguous gene deletion disorder with CASE PRESENTATION: Here we describe two siblings carrying either a chromosome 1q21 microdeletion or a chromosome Xq28 duplication. Using a comparative genomic hybridization (CGH) array, we identified...

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Ha K, Shen Y, Graves T, et al. The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability. Mol Cytogenet. 2016;9:74doi: 10.1186/s13039-016-0286-0.
Ha, K., Shen, Y., Graves, T., Kim, C. H., & Kim, H. G. (2016). The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability. Molecular cytogenetics, 974. https://doi.org/10.1186/s13039-016-0286-0
Ha, Kyungsoo, et al. "The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability." Molecular cytogenetics vol. 9 (2016): 74. doi: https://doi.org/10.1186/s13039-016-0286-0
Ha K, Shen Y, Graves T, Kim CH, Kim HG. The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability. Mol Cytogenet. 2016 Sep 29;9:74. doi: 10.1186/s13039-016-0286-0. eCollection 2016. PMID: 27708714; PMCID: PMC5041540.
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12p deletion spectrum syndrome: a new case report reinforces the evidence regarding the potential relationship to autism spectrum disorder and related developmental impairments.

Molecular cytogenetics

Leyser M, Dias BL, Coelho AL, Vasconcelos M, Nascimento OJ.
PMID: 27708715
Mol Cytogenet. 2016 Oct 04;9:75. doi: 10.1186/s13039-016-0278-0. eCollection 2016.

BACKGROUND: Autism Spectrum Disorders (ASD) now encompass a broad heterogeneous group of people who present in the early developmental years with a wide range of social and communication deficits, which are typically also associated with complex repetitive behaviors and...

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Leyser M, Dias BL, Coelho AL, et al. 12p deletion spectrum syndrome: a new case report reinforces the evidence regarding the potential relationship to autism spectrum disorder and related developmental impairments. Mol Cytogenet. 2016;9:75doi: 10.1186/s13039-016-0278-0.
Leyser, M., Dias, B. L., Coelho, A. L., Vasconcelos, M., & Nascimento, O. J. (2016). 12p deletion spectrum syndrome: a new case report reinforces the evidence regarding the potential relationship to autism spectrum disorder and related developmental impairments. Molecular cytogenetics, 975. https://doi.org/10.1186/s13039-016-0278-0
Leyser, Marcio, et al. "12p deletion spectrum syndrome: a new case report reinforces the evidence regarding the potential relationship to autism spectrum disorder and related developmental impairments." Molecular cytogenetics vol. 9 (2016): 75. doi: https://doi.org/10.1186/s13039-016-0278-0
Leyser M, Dias BL, Coelho AL, Vasconcelos M, Nascimento OJ. 12p deletion spectrum syndrome: a new case report reinforces the evidence regarding the potential relationship to autism spectrum disorder and related developmental impairments. Mol Cytogenet. 2016 Oct 04;9:75. doi: 10.1186/s13039-016-0278-0. eCollection 2016. PMID: 27708715; PMCID: PMC5050589.
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Importance of biomarkers in glioblastomas patients receiving local BCNU wafer chemotherapy.

Molecular cytogenetics

Urbschat S, Sippl C, Engelhardt J, Kammers K, Oertel J, Ketter R.
PMID: 28484518
Mol Cytogenet. 2017 May 04;10:16. doi: 10.1186/s13039-017-0317-5. eCollection 2017.

BACKGROUND: To assess the influence of molecular markers with potential prognostic value to groups of patients with newly diagnosed glioblastoma patients were examined: group A with 36 patients (surgical resection plus standard combined chemoradiotherapy) and group B with 36...

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Urbschat S, Sippl C, Engelhardt J, et al. Importance of biomarkers in glioblastomas patients receiving local BCNU wafer chemotherapy. Mol Cytogenet. 2017;10:16doi: 10.1186/s13039-017-0317-5.
Urbschat, S., Sippl, C., Engelhardt, J., Kammers, K., Oertel, J., & Ketter, R. (2017). Importance of biomarkers in glioblastomas patients receiving local BCNU wafer chemotherapy. Molecular cytogenetics, 1016. https://doi.org/10.1186/s13039-017-0317-5
Urbschat, Steffi, et al. "Importance of biomarkers in glioblastomas patients receiving local BCNU wafer chemotherapy." Molecular cytogenetics vol. 10 (2017): 16. doi: https://doi.org/10.1186/s13039-017-0317-5
Urbschat S, Sippl C, Engelhardt J, Kammers K, Oertel J, Ketter R. Importance of biomarkers in glioblastomas patients receiving local BCNU wafer chemotherapy. Mol Cytogenet. 2017 May 04;10:16. doi: 10.1186/s13039-017-0317-5. eCollection 2017. PMID: 28484518; PMCID: PMC5418867.
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14q32.3-qter trisomic segment: a case report and literature review.

Molecular cytogenetics

Villa N, Scatigno A, Redaelli S, Conconi D, Cianci P, Farina C, Fossati C, Dalprà L, Maitz S, Selicorni A.
PMID: 27499811
Mol Cytogenet. 2016 Aug 05;9:60. doi: 10.1186/s13039-016-0265-5. eCollection 2016.

BACKGROUND: Segmental duplication of the long arm of chromosome 14 (14q) has commonly been reported to affect the proximal segment of 14q, while distal duplication is a rare condition and often associated with segmental monosomy of other chromosomes.CASE PRESENTATION:...

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Villa N, Scatigno A, Redaelli S, et al. 14q32.3-qter trisomic segment: a case report and literature review. Mol Cytogenet. 2016;9:60doi: 10.1186/s13039-016-0265-5.
Villa, N., Scatigno, A., Redaelli, S., Conconi, D., Cianci, P., Farina, C., Fossati, C., Dalprà, L., Maitz, S., & Selicorni, A. (2016). 14q32.3-qter trisomic segment: a case report and literature review. Molecular cytogenetics, 960. https://doi.org/10.1186/s13039-016-0265-5
Villa, Nicoletta, et al. "14q32.3-qter trisomic segment: a case report and literature review." Molecular cytogenetics vol. 9 (2016): 60. doi: https://doi.org/10.1186/s13039-016-0265-5
Villa N, Scatigno A, Redaelli S, Conconi D, Cianci P, Farina C, Fossati C, Dalprà L, Maitz S, Selicorni A. 14q32.3-qter trisomic segment: a case report and literature review. Mol Cytogenet. 2016 Aug 05;9:60. doi: 10.1186/s13039-016-0265-5. eCollection 2016. PMID: 27499811; PMCID: PMC4974715.
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Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.

Molecular cytogenetics

Selenti N, Tzetis M, Braoudaki M, Giannikou K, Kitsiou-Tzeli S, Fryssira H.
PMID: 26430469
Mol Cytogenet. 2015 Sep 30;8:73. doi: 10.1186/s13039-015-0174-z. eCollection 2015.

[This corrects the article DOI: 10.1186/s13039-015-0169-9.].

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Selenti N, Tzetis M, Braoudaki M, et al. Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4. Mol Cytogenet. 2015;8:73doi: 10.1186/s13039-015-0174-z.
Selenti, N., Tzetis, M., Braoudaki, M., Giannikou, K., Kitsiou-Tzeli, S., & Fryssira, H. (2015). Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4. Molecular cytogenetics, 873. https://doi.org/10.1186/s13039-015-0174-z
Selenti, Nikoletta, et al. "Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4." Molecular cytogenetics vol. 8 (2015): 73. doi: https://doi.org/10.1186/s13039-015-0174-z
Selenti N, Tzetis M, Braoudaki M, Giannikou K, Kitsiou-Tzeli S, Fryssira H. Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4. Mol Cytogenet. 2015 Sep 30;8:73. doi: 10.1186/s13039-015-0174-z. eCollection 2015. PMID: 26430469; PMCID: PMC4589913.
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Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.

Molecular cytogenetics

Carreira IM, Ferreira SI, Matoso E, Pires LM, Ferrão J, Jardim A, Mascarenhas A, Pinto M, Lavoura N, Pais C, Paiva P, Simões L, Caramelo F, Ramos L, Venâncio M, Ramos F, Beleza A, Sá J, Saraiva J, de Melo JB.
PMID: 26719768
Mol Cytogenet. 2015 Dec 30;8:103. doi: 10.1186/s13039-015-0202-z. eCollection 2015.

BACKGROUND: Array-based comparative genomic hybridization has been assumed to be the first genetic test offered to detect genomic imbalances in patients with unexplained intellectual disability with or without dysmorphisms, multiple congenital anomalies, learning difficulties and autism spectrum disorders. Our...

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Carreira IM, Ferreira SI, Matoso E, et al. Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients. Mol Cytogenet. 2015;8:103doi: 10.1186/s13039-015-0202-z.
Carreira, I. M., Ferreira, S. I., Matoso, E., Pires, L. M., Ferrão, J., Jardim, A., Mascarenhas, A., Pinto, M., Lavoura, N., Pais, C., Paiva, P., Simões, L., Caramelo, F., Ramos, L., Venâncio, M., Ramos, F., Beleza, A., Sá, J., Saraiva, J., & de Melo, J. B. (2015). Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients. Molecular cytogenetics, 8103. https://doi.org/10.1186/s13039-015-0202-z
Carreira, Isabel Marques, et al. "Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients." Molecular cytogenetics vol. 8 (2015): 103. doi: https://doi.org/10.1186/s13039-015-0202-z
Carreira IM, Ferreira SI, Matoso E, Pires LM, Ferrão J, Jardim A, Mascarenhas A, Pinto M, Lavoura N, Pais C, Paiva P, Simões L, Caramelo F, Ramos L, Venâncio M, Ramos F, Beleza A, Sá J, Saraiva J, de Melo JB. Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients. Mol Cytogenet. 2015 Dec 30;8:103. doi: 10.1186/s13039-015-0202-z. eCollection 2015. PMID: 26719768; PMCID: PMC4696247.
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Showing 1 to 12 of 843 entries