Genomic landscape of childhood acute lymphoblastic leukemia in Malaysia: insights from array-CGH

Συγγραφείς: Ismail, Azli^Aff1, Ahid, Fadly^{Aff2, IDs13039025007094_cor1}, Moi, Wong Nyuk^{Aff3, Aff4}, Kamaluddin, Nor Rizan, Esa, Ezalia, Yusoff, Yuslina Mat, Seman, Zahidah Abu, Mohammed, Muhammad Asyraff, George, Elizabeth, Isa, Asmida, Zakaria, Zubaidah

Πηγή: Molecular Cytogenetics. 18(1)

A family case of a rare Xq28 duplication

Συγγραφείς: A. E. Kopytova, E. N. Tolmacheva, D. A. Emelina, O. S. Glotov, V. V. Miroshnikova, T. S. Usenko, O. Yu. Vasilyeva, E. D. Kasyanov, E. A. Fonova, I. V. Makarov, A. D. Lobanov, G. E. Mazo, S. N. Pchelina, I. N. Lebedev

Πηγή: Вавиловский журнал генетики и селекции, Vol 29, Iss 5, Pp 636-643 (2025)

Θεματικοί όροι: xq28 duplication syndrome, array-based comparative genomic hybridization, copy number variations (cnvs), intellectual disability, rab39b, clic2, Genetics, QH426-470

Περιγραφή αρχείου: electronic resource

Relation: https://vavilov.elpub.ru/jour/article/view/4746; https://doaj.org/toc/2500-3259

Σύνδεσμος πρόσβασης: https://doaj.org/article/2bdfa20943e6442cbd178acb1a9c6abc

Distinct copy number signatures between residual benign and transformed areas of carcinoma ex pleomorphic adenoma

Συγγραφείς: João Figueira Scarini, Wellington Lima Sabino, Reydson Alcides de Lima-Souza, Erika Said Abu Egal, Alfio José Tincani, Rogério Gondak, Luiz Paulo Kowalski, Ana Cristina Victorino Krepischi, Albina Altemani, Fernanda Viviane Mariano

Πηγή: Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)

Θεματικοί όροι: Array-based comparative genomic hybridization, Copy number alteration, Gene, Carcinoma ex pleomorphic adenoma, Pleomorphic adenoma, Medicine, Science

Περιγραφή αρχείου: electronic resource

Relation: https://doaj.org/toc/2045-2322

Σύνδεσμος πρόσβασης: https://doaj.org/article/9fecbf6d187a46cfb30afe45b209fe40

18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency

Συγγραφείς: Hashiguchi, Sho, Tomomasa, Dan, Nishikawa, Takuro^{Aff3, IDs10875024017514_cor3}, Ishikawa, Shuji, Akaike, Harumi, Kobae, Hidehiko, Shirai, Tsuyoshi, Nagao, Toshikage, Noma, Kosuke, Okada, Satoshi, Kamuro, Kazuhiro, Okamoto, Yasuhiro, Kanegane, Hirokazu^{Aff7, IDs10875024017514_cor13}

Πηγή: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 44(7)

Deletion of 4q13.2q21.1 chromosome and autism spectrum disorder

Συγγραφείς: Posar A., Visconti P., Magini P., Ambrosini E., Severi G., Seri M.

Πηγή: Journal of Pediatric Neurosciences. 17:131-134

Θεματικοί όροι: 03 medical and health sciences, 0302 clinical medicine, Array-based comparative genomic hybridization, autism spectrum disorder, genetics, intellectual disability

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: https://journals.lww.com/jopn/fulltext/2022/17020/deletion_of_4q13_2q21_1_chromosome_and_autism.6.aspx
https://hdl.handle.net/11585/1011199
https://doi.org/10.4103/jpn.JPN_98_21

Nexus between genome-wide copy number variations and autism spectrum disorder in Northeast Han Chinese population

Συγγραφείς: Shuang Qiu, Yingjia Qiu, Yong Li, Xiaojuan Zhu, Yunkai Liu, Yichun Qiao, Yi Cheng, Yawen Liu

Πηγή: BMC Psychiatry, Vol 23, Iss 1, Pp 1-14 (2023)

Θεματικοί όροι: Autism spectrum disorder, Copy number variations, MicroRNAs, Array-based comparative genomic hybridization, Psychiatry, RC435-571

Περιγραφή αρχείου: electronic resource

Relation: https://doaj.org/toc/1471-244X

Σύνδεσμος πρόσβασης: https://doaj.org/article/f79946588fc949578cdfac810da25882

Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability

Συγγραφείς: Türkyılmaz A, Geckinli BB, Tekin E, Ates EA, Yarali O, Cebi AH, Arman A

Πηγή: Balkan J Med Genet
Balkan Journal of Medical Genetics, Vol 24, Iss 2, Pp 15-24 (2022)

Θεματικοί όροι: array-based comparative genomic hybridization (acgh), copy number variations (cnv), developmental delay, 0301 basic medicine, 0303 health sciences, 03 medical and health sciences, dysmorphic facial features, intellectual disability, Genetics, Original Article, genotype-phenotype correlation, QH426-470

Σύνδεσμος πρόσβασης: https://pubmed.ncbi.nlm.nih.gov/36249514
https://doaj.org/article/b4c8addd46594dddad739bcf0d55ca5e

Prenatal sonographic and cytogenetic/molecular findings of 22q11.2 microdeletion syndrome in 48 confirmed cases in a single tertiary center

Συγγραφείς: Sarac Sivrikoz, Tugba^{Aff1, IDs00404021061254_cor1}, Basaran, Seher^{Aff2, Aff3}, Has, Recep, Karaman, Birsen^{Aff2, Aff4}, Kalelioglu, Ibrahim Halil, Kirgiz, Melike, Altunoglu, Umut, Yuksel, Atil

Πηγή: Archives of Gynecology and Obstetrics. 305(2):323-342

Effects of Copy Number Variations on Developmental Aspects of Children With Delayed Development

Συγγραφείς: Kee-Boem Park, Kyung Eun Nam, Ah-Ra Cho, Woori Jang, Myungshin Kim, Joo Hyun Park

Πηγή: Ann Rehabil Med
Annals of Rehabilitation Medicine, Vol 43, Iss 2, Pp 215-223 (2019)

Θεματικοί όροι: Developmental disabilities, DNA copy number variations, 0301 basic medicine, 0303 health sciences, 03 medical and health sciences, Array-based comparative genomic hybridization, Motor skills, Medicine, Hypotonia, Original Article

Σύνδεσμος πρόσβασης: http://www.e-arm.org/upload/pdf/arm-2019-43-2-215.pdf
https://pubmed.ncbi.nlm.nih.gov/31072088
https://doaj.org/article/b281ea3da5cf42c490812198175f122d
http://www.e-arm.org/upload/pdf/arm-2019-43-2-215.pdf
http://www.ncbi.nlm.nih.gov/pubmed/31072088
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6509583
https://www.e-arm.org/journal/view.php?number=4085
https://kmbase.medric.or.kr/Main.aspx?menu=01&d=KMBASE&m=VIEW&i=1140920190430020215
https://www.kci.go.kr/kciportal/ci/sereArticleSearch/ciSereArtiView.kci?sereArticleSearchBean.artiId=ART002460559

Runs of homozygosity in spontaneous abortions from families with recurrent pregnancy loss

Συγγραφείς: N. A. Skryabin, S. A. Vasilyev, T. V. Nikitina, D. I. Zhigalina, R. R. Savchenko, N. P. Babushkina, M. E. Lopatkina, A. A. Kashevarova, I. N. Lebedev

Πηγή: Вавиловский журнал генетики и селекции, Vol 23, Iss 2, Pp 244-249 (2019)

Θεματικοί όροι: 0301 basic medicine, runs of homozygosity, 0303 health sciences, 03 medical and health sciences, recurrent pregnancy loss, spontaneous abortions, Genetics, QH426-470, array-based comparative genomic hybridization, genomic imprinting

Σύνδεσμος πρόσβασης: https://doaj.org/article/baac6f4e959c4f66ba4e0f71b76dcf5c
https://vavilov.elpub.ru/jour/article/download/1943/1207
https://vavilov.elpub.ru/jour/article/view/1943

The Precise Breakpoint Mapping in Paracentric Inversion 10q22.2q23.3 by Comprehensive Cytogenomic Analysis, Multicolor Banding, and Single-Copy Chromosome Sequencing

Συγγραφείς: Tatyana V. Karamysheva, Tatyana A. Gayner, Eugeny A. Elisaphenko, Vladimir A. Trifonov, Elvira G. Zakirova, Konstantin E. Orishchenko, Mariya A. Prokhorovich, Maria E. Lopatkina, Nikolay A. Skryabin, Igor N. Lebedev, Nikolay B. Rubtsov

Πηγή: Biomedicines, Vol 10, Iss 3255, p 3255 (2022)

Θεματικοί όροι: paracentric inversion, inv(10), breakpoint mapping, array-based comparative genomic hybridization, chromosomal microdissection, multicolor banding, Biology (General), QH301-705.5

Relation: https://www.mdpi.com/2227-9059/10/12/3255; https://doaj.org/toc/2227-9059; https://doaj.org/article/4ab33a10696a4c2fab8f87b1b0f92652

Διαθεσιμότητα: https://doi.org/10.3390/biomedicines10123255
https://doaj.org/article/4ab33a10696a4c2fab8f87b1b0f92652

Angewandte genetische Diagnostik in der Pädiatrie

Applied genetic diagnostics in pediatrics: Advantages and disadvantages of modern sequencing methods

Συγγραφείς: Olbrich, H., Omran, H.^{Aff1, IDs00112019008159_cor2}

Πηγή: Monatsschrift Kinderheilkunde: Zeitschrift für Kinder- und Jugendmedizin. :1-11

Clinical Applications of Chromosomal Microarray Testing in Myeloid Malignancies

Συγγραφείς: Ronaghy, Arash, Yang, Richard K., Khoury, Joseph D., Kanagal-Shamanna, Rashmi^{Aff1, IDs11899020005781_cor4}

Πηγή: Current Hematologic Malignancy Reports. 15(3):194-202

Smoothing Spline Estimation of Variance Functions

Συγγραφείς: Liu, Anna, Tong, Tiejun, Wang, Yuedong

Πηγή: Journal of Computational and Graphical Statistics, 2007 Jun 01. 16(2), 312-329.

Σύνδεσμος πρόσβασης: https://www.jstor.org/stable/27594245

A Versatile Statistical Analysis Algorithm to Detect Genome Copy Number Variation

Συγγραφείς: Daruwala, Raoul-Sam, Rudra, Archisman, Ostrer, Harry, Lucito, Robert, Wigler, Michael, Mishra, Bud, Schwartz, Jacob T.

Πηγή: Proceedings of the National Academy of Sciences of the United States of America, 2004 Nov . 101(46), 16292-16297.

Σύνδεσμος πρόσβασης: https://www.jstor.org/stable/3373811

The presence of genomic imbalances is associated with poor outcome in patients with burkitt lymphoma treated with dose‐intensive chemotherapy including rituximab

Συγγραφείς: Lourdes Escoda, Carlos Grande, Pere Barba, Mar Tormo, Luis A. Corchete-Sánchez, Cristina Robledo, Jordi Ribera, Estrella Carrillo, Jesus M Hernández-Sánchez, Rocío Benito, Eva Lumbreras, Jesús M. Hernández-Rivas, María Hernández-Sánchez, Maribel Forero-Castro, Josep-Maria Ribera, Javier Menárguez, Juan Luis García, Alfonso García de Coca, C. Olivier

Συνεισφορές: Universidad Complutense de Madrid, Fundación Castellano Leonesa de Hematología y Hemoterapia, Junta de Castilla y León, Red Temática de Investigación Cooperativa en Cáncer (España), European Commission, Sociedad Española de Hematología y Hemoterapia, Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), Universidad Pedagógica y Tecnológica de Colombia, Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]

Πηγή: BRITISH JOURNAL OF HAEMATOLOGY
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
instname
Docta Complutense
British Journal of Haematology
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
RISalud-ANDALUCIA. Repositorio Institucional de Salud de Andalucía
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)

Θεματικοί όροι: Adult, Male, 0301 basic medicine, 24 Ciencias de la Vida, Adolescent, array-based comparative genomic hybridization (aCGH), Kaplan-Meier Estimate, Next-generation sequencing, outcome, Young Adult, 03 medical and health sciences, rituximab, Antineoplastic Combined Chemotherapy Protocols, Humans, Outcome, Aged, Chromosome Aberrations, Comparative Genomic Hybridization, 0303 health sciences, Genome, Array-based comparative genomic hybridization, Burkitt lymphoma, High-Throughput Nucleotide Sequencing, Middle Aged, Prognosis, Burkitt Lymphoma, 3. Good health, Array-based comparative genomic hybridization (aCGH), Treatment Outcome, Ciencias Biomédicas, outcome, Next-generation sequencing, next-generation sequencing, Female, Rituximab

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/bjh.13849
https://pubmed.ncbi.nlm.nih.gov/26567765
https://www.fundanet.incliva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=3248
https://hdl.handle.net/20.500.14352/93287
https://incliva.fundanetsuite.com/publicaciones/ProdCientif/PublicacionFrw.aspx?id=3248
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9740
http://hdl.handle.net/10668/9621
http://hdl.handle.net/10261/168756
https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.13849
https://digital.csic.es/handle/10261/168756
http://onlinelibrary.wiley.com/doi/10.1111/bjh.13849/full
http://europepmc.org/abstract/MED/26567765
https://onlinelibrary.wiley.com/doi/10.1111/bjh.13849
https://onlinelibrary.wiley.com/doi/10.1111/bjh.13849/full
https://hdl.handle.net/10668/9621

Сomparative genomic hybridization in prenatal diagnosis ; Опыт применения сравнительной геномной гибридизации в пренатальной диагностике

Συγγραφείς: V. A. Gnetetskaya, J. A. Tarasova, E. S. Kuznetsova, M. A. Ermakova, V. L. Izhevskaya, В. А. Гнетецкая, Ю. А. Тарасова, Е. С. Кузнецова, М. А. Ермакова, В. Л. Ижевская

Πηγή: Medical Genetics; Том 19, № 3 (2020); 60-61 ; Медицинская генетика; Том 19, № 3 (2020); 60-61 ; 2073-7998

Θεματικοί όροι: microduplication, молекулярное кариотипирование, сравнительная геномная гибридизация, микроперестройки, prenatal diagnosis, array-based comparative genomic hybridization, microdeletion

Περιγραφή αρχείου: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/833/505

Διαθεσιμότητα: https://www.medgen-journal.ru/jour/article/view/833
https://doi.org/10.25557/2073-7998.2020.03.60-61

2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis

Συγγραφείς: Eun-Kyung Cho, Jinsup Kim, Aram Yang, Sung Yoon Cho, Dong-Kyu Jin

Πηγή: Annals of Pediatric Endocrinology & Metabolism, Vol 22, Iss 2, Pp 129-132 (2017)

Θεματικοί όροι: Chromosome 2q37 deletion syndrome, Albright's hereditary osteodystrophy, Brachydactyly, Dilated cardiomyopathy, Array based comparative genomic hybridization, Pediatrics, RJ1-570

Περιγραφή αρχείου: electronic resource

Relation: http://e-apem.org/upload/pdf/apem-22-129.pdf; https://doaj.org/toc/2287-1012; https://doaj.org/toc/2287-1292

Σύνδεσμος πρόσβασης: https://doaj.org/article/ab139c07dc1c4ad1a96fb07955d3d1dd

Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing

Συγγραφείς: Igor N. Lebedev, Tatyana V. Karamysheva, Eugeny A. Elisaphenko, Alexey I. Makunin, Daria I. Zhigalina, Maria E. Lopatkina, Gleb V. Drozdov, Aleksander D. Cheremnykh, Natalia B. Torkhova, Gulnara N. Seitova, Stanislav A. Vasilyev, Anna A. Kashevarova, Ludmila P. Nazarenko, Nikolay B. Rubtsov

Πηγή: Biomedicines, Vol 9, Iss 8, p 1030 (2021)

Θεματικοί όροι: array-based comparative genomic hybridization, chromosomal microdissection, single-copy chromosome sequencing, small supernumerary marker chromosome, ring chromosome, prenatal diagnosis, Biology (General), QH301-705.5

Περιγραφή αρχείου: electronic resource

Relation: https://www.mdpi.com/2227-9059/9/8/1030; https://doaj.org/toc/2227-9059

Σύνδεσμος πρόσβασης: https://doaj.org/article/fc2a27e1d0084a8dabf6292e7be10799

DNA copy number profiling reveals different patterns of chromosomal instability within colorectal cancer according to the age of onset: CHROMOSOMAL INSTABILITY IN COLON CANCER

Συγγραφείς: Ricard Sánchez, Miguel Urioste, Lucía Inglada-Pérez, Daniel Rueda, José Perea, Jessica Pérez, Jesús M. Hernández, Yolanda Rodríguez, Edurne Álvaro, Tamara Fernández, Juan Luis García, Rogelio González-Sarmiento, María Arriba, Javier Benitez, Irene Osorio

Συνεισφορές: Ministerio de Sanidad, Consumo y Bienestar Social (España), Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]

Πηγή: Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
instname

Θεματικοί όροι: 0301 basic medicine, Adult, Aged, 80 and over, Male, 2. Zero hunger, 0303 health sciences, Comparative Genomic Hybridization, Adolescent, DNA Copy Number Variations, Array-based comparative genomic hybridization, Early-onset colorectal cancer, 3. Good health, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Chromosomal Instability, Humans, Female, Age of Onset, Late-onset colorectal cancer, Colorectal Neoplasms, 10. No inequality, Aged

Σύνδεσμος πρόσβασης: https://pubmed.ncbi.nlm.nih.gov/25808986
http://hdl.handle.net/10261/168501
https://digital.csic.es/handle/10261/168501
https://pubmed.ncbi.nlm.nih.gov/25808986/
http://onlinelibrary.wiley.com/doi/10.1002/mc.22315/abstract
https://onlinelibrary.wiley.com/doi/abs/10.1002/mc.22315