المؤلفون: Spreafico, Filippo, Ciceri, Sara, Gamba, Beatrice, Torri, Federica, Terenziani, Monica, Collini, Paola, Macciardi, Fabio, Radice, Paolo, Perotti, Daniela

المصدر: Oncotarget. 7(8)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Cancer, Clinical Research, Rare Diseases, Human Genome, Genetics, Biomarkers, Tumor, Child, Child, Preschool, Chromosome Aberrations, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 3, Female, High-Throughput Nucleotide Sequencing, Homeodomain Proteins, Humans, Infant, Kidney Neoplasms, Male, Mutation, Neoplasm Recurrence, Local, Neoplasm Staging, Prognosis, RNA, Messenger, Real-Time Polymerase Chain Reaction, Reverse Transcriptase Polymerase Chain Reaction, Ribonuclease III, Survival Rate, Wilms Tumor, Wilms tumor, recurrence, chromosomal anomalies, SIX1, miRNA processor genes, Oncology and carcinogenesis

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5rq8s395Test

المؤلفون: Girirajan, Santhosh, Rosenfeld, Jill A, Cooper, Gregory M, Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E, Baker, Carl, Mefford, Heather C, Kidd, Jeffrey M, Browning, Sharon R, Browning, Brian L, Dickel, Diane E, Levy, Deborah L, Ballif, Blake C, Platky, Kathryn, Farber, Darren M, Gowans, Gordon C, Wetherbee, Jessica J, Asamoah, Alexander, Weaver, David D, Mark, Paul R, Dickerson, Jennifer, Garg, Bhuwan P, Ellingwood, Sara A, Smith, Rosemarie, Banks, Valerie C, Smith, Wendy, McDonald, Marie T, Hoo, Joe J, French, Beatrice N, Hudson, Cindy, Johnson, John P, Ozmore, Jillian R, Moeschler, John B, Surti, Urvashi, Escobar, Luis F, El-Khechen, Dima, Gorski, Jerome L, Kussmann, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M, Zackai, Elaine H, Deardorff, Matthew A, Shaikh, Tamim H, Haan, Eric, Friend, Kathryn L, Fichera, Marco, Romano, Corrado, Gécz, Jozef, DeLisi, Lynn E, Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G, Eichler, Evan E

المصدر: Nature genetics. 42(3)

مصطلحات موضوعية: Chromosomes, Human, Pair 16, Humans, Chromosome Deletion, Recurrence, Oligonucleotide Array Sequence Analysis, Severity of Illness Index, Case-Control Studies, Pedigree, Family, Developmental Disabilities, Gene Frequency, Phenotype, Polymorphism, Single Nucleotide, Models, Genetic, Adult, Child, Child, Preschool, Infant, Comparative Genomic Hybridization, Chromosomes, Human, Pair 16, Polymorphism, Single Nucleotide, Models, Genetic, Preschool, Developmental Biology, Medical and Health Sciences, Biological Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/89w1x55xTest

المؤلفون: Lengyel, Anna, Pinti, Éva, Pikó, Henriett, Jávorszky, Eszter, David, Dezső, Tihanyi, Mariann, Gönczi, Éva, Kiss, Eszter, Tóth, Zsuzsa, Tory, Kálmán, Fekete, György, Haltrich, Irén

مصطلحات موضوعية: Abnormalities, Multiple, Autism Spectrum Disorder, Brain, Child, Preschool, Chromosome Aberrations, Chromosomes, Human, Pair 16, DNA Copy Number Variations, Developmental Disabilities, Female, Gene Ontology, Genetic Association Studies, Humans, Hungary, In Situ Hybridization, Fluorescence, Infant, Intellectual Disability, Magnetic Resonance Imaging, Male, Microarray Analysis, Obesity, Phenotype, Segmental Duplications, Genomic, Sequence Deletion, Tomography Scanners

العلاقة: https://www.sciencedirect.com/science/article/pii/S1769721220300112?via%3DihubTest; Eur J Med Genet. 2020 Oct;63(10):104027. doi:10.1016/j.ejmg.2020.104027. Epub 2020 Aug 3.; http://hdl.handle.net/10400.18/7650Test

الإتاحة: https://doi.org/10.1016/j.ejmg.2020.104027Test
http://hdl.handle.net/10400.18/7650Test

المساهمون: Jun Eun Park, O Kyu Noh, Yonghee Lee, Hyoung Soo Choi, Jung Woo Han, Seung Min Hahn, Chuhl Joo Lyu, Ji Won Lee, Keon Hee Yoo, Hong Hoe Koo, Seon-Yong Jeong, Ki Woong Sung, Lyu, Chuhl Joo

مصطلحات موضوعية: Child, Preschool, Chromosomes, Human, Pair 16 / genetics, Female, Humans, Infant, Newborn, Loss of Heterozygosity, Male, Prognosis, Republic of Korea, Survival Analysis, Wilms Tumor / genetics, Wilms Tumor / metabolism, Wilms Tumor / mortality, 16q, 1p, Survival, Wilms tumor

وصف الملف: application/pdf

العلاقة: CANCER RESEARCH AND TREATMENT; J00453; OAK-2020-07733; https://ir.ymlib.yonsei.ac.kr/handle/22282913/181425Test; T202005670; CANCER RESEARCH AND TREATMENT, Vol.52(2) : 438-445, 2020-04; 67513

الإتاحة: https://doi.org/10.4143/crt.2019.313Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/181425Test

المؤلفون: Smith, Moyra, Sperling, Donald

المصدر: American Journal of Medical Genetics. 84(4)

مصطلحات موضوعية: Genetics, Pediatric, Rare Diseases, Brain Disorders, Heart Disease, Tuberous Sclerosis, Cardiovascular, Aetiology, 2.1 Biological and endogenous factors, Base Sequence, Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 9, Exons, Gene Duplication, Heart Neoplasms, Humans, Infant, Newborn, Male, Molecular Sequence Data, Polymerase Chain Reaction, Proteins, Rhabdomyoma, Tuberous Sclerosis Complex 1 Protein, Tumor Suppressor Proteins, cardiac rhabdomyoma, tuberous sclerosis, mutation analysis, TSC1, hamartin, base pair duplication, Cardiac rhabdomyoma, Hamartin, Mutation analysis, Tuberous sclerosis, DNA, article, base pairing, case report, chromosome 16p, chromosome 9q, crossing over, DNA sequence, exon, gene duplication, gene mutation, heart tumor, human, hypomelanosis, infant, priority journal, rhabdomyoma, Clinical Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/50d208chTest

المؤلفون: Zollino, M.

المساهمون: Loviglio, M. N., Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., Van Der Werf, I., Waszak, S. M., Zazhytska, M., Roberts-Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A. M., Zollino, Marcella, Van Dijck, A., Kooy, R. F., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., Andrieux, J., Marshall, C., Scherer, S. W., Shen, Y., Gusella, J. F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E. T., Deplancke, B., Beckmann, J. S., Rougemont, J., Jacquemont, S., Reymond, A.

مصطلحات موضوعية: Adolescent, Adult, Aged, Autism Spectrum Disorder, Autistic Disorder, Body Mass Index, Child, Preschool, Chromatin, Chromosome Deletion, Chromosome Duplication, Chromosome Mapping, Chromosomes, Human, Pair 16, DNA Copy Number Variation, Female, In Situ Hybridization, Fluorescence, Infant, Intellectual Disability, Male, Megalencephaly, Microcephaly, Middle Aged, Obesity, Phenotype, Molecular Biology, Psychiatry and Mental Health, Cellular and Molecular Neuroscience

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27240531; info:eu-repo/semantics/altIdentifier/wos/WOS:000401702800007; volume:22; issue:6; firstpage:836; lastpage:849; numberofpages:14; issueyear:2017; journal:MOLECULAR PSYCHIATRY; http://hdl.handle.net/10807/114664Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84973140920; http://www.nature.com/mp/index.htmlTest

الإتاحة: https://doi.org/10.1038/mp.2016.84Test
http://hdl.handle.net/10807/114664Test
http://www.nature.com/mp/index.htmlTest

المؤلفون: Smol, Thomas, Collonge-Rame, Marie-Agnès

المساهمون: Laboratoire de Génétique biologique, Histologie et BDR, CHU de Besançon (France)

مصطلحات موضوعية: t(8, 16)(p11, p13), KAT6A, CREBBP, Leukaemia Section, Humans, Male, Aged, Adult, Middle Aged, Chromosomes, Human, Pair 8, Translocation, Genetic, Adolescent, Prognosis, Karyotyping, Pair 8/*genetics, Pair 16, 80 and over, Genetic/*genetics, Infant, Newborn, Histone Acetyltransferases/*genetics, Pair 16/*genetics, Child, Acute Disease

العلاقة: Atlas of Genetics and Cytogenetics in Oncology and Haematology; http://AtlasGeneticsOncology.org/Anomalies/t0816ID1018.txtTest; Thomas, Smol; Marie-Agnès, Collonge-Rame. t(8;16)(p11;p13) KAT6A/CREBBP. Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2015, 7, p. 476-480; http://hdl.handle.net/2042/62192Test; https://doi.org/10.4267/2042/62192Test

الإتاحة: https://doi.org/10.4267/2042/62192Test
http://hdl.handle.net/2042/62192Test

المؤلفون: Cheng, Chi-Keung, Li, Libby, Cheng, Suk-Hang, Lau, Kin-Mang, Chan, Natalie P. H., Wong, Raymond S. M., Shing, Matthew M. K., Li, Chi-Kong, Ng, Margaret H. L.

المساهمون: Department of Anatomical and Cellular Pathology, Graduate School of Biomedical Sciences

المصدر: Blood ; 112 ; 8 ; 3391-402

مصطلحات موضوعية: Adolescent, Adult, Aged, 80 and over, Child, Preschool, Chromosomes, Human, Pair 16, Pair 21, Pair 8, Core Binding Factor Alpha 3 Subunit, Female, Humans, Infant, Leukemia, Myeloid, Acute, Male, Middle Aged, Transcription, Genetic, Translocation, Life Sciences, Medicine and Health Sciences

العلاقة: Link to Article in PubMed; http://dx.doi.org/10.1182/blood-2008-02-137083Test; Blood. 2008 Oct 15;112(8):3391-402. Epub 2008 Jul 28. Link to article on publisher's site; 1528-0020 (Electronic); http://hdl.handle.net/20.500.14038/33022Test; https://escholarship.umassmed.edu/gsbs_sp/1570Test; 740109; gsbs_sp/1570

الإتاحة: https://doi.org/10.1182/blood-2008-02-137083Test
https://doi.org/20.500.14038/33022Test
https://hdl.handle.net/20.500.14038/33022Test
https://escholarship.umassmed.edu/gsbs_sp/1570Test

المؤلفون: Griffin, Nicole G, Cronin, Kenneth D, Walley, Nicole M, Hulette, Christine M, Grant, Gerald A, Mikati, Mohamad A, LaBreche, Heather G, Rehder, Catherine W, Allen, Andrew S, Crino, Peter B, Heinzen, Erin L

مصطلحات موضوعية: Brain, Chromosomes, Human, Pair 16, Humans, Uniparental Disomy, DNA, DNA Methylation, Genomic Imprinting, Genotype, Alleles, Child, Preschool, Infant, Female, Hemimegalencephaly

وصف الملف: application/pdf

العلاقة: Cold Spring Harbor molecular case studies; mcs.a001735; https://hdl.handle.net/10161/25902Test

الإتاحة: https://hdl.handle.net/10161/25902Test

المؤلفون: Zamecnikova, Adriana, Al Bahar, Soad

المساهمون: Kuwait Cancer Control Center, Department of Hematology

مصطلحات موضوعية: chromosome 1, chromosome 10, hematologic malignancies, multiple myeloma, myeloid malignancies, Leukaemia Section, Aged, Chromosome Banding, Chromosomes, Human, Pair 1/*genetics, Pair 14/genetics, Female, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Myelodysplastic Syndromes/etiology/*genetics, Time Factors, Translocation, Genetic, Adolescent, Adult, Child, Preschool, Pair 16/*genetics, Pair 8/*genetics, Infant, Newborn

العلاقة: Atlas of Genetics and Cytogenetics in Oncology and Haematology; http://AtlasGeneticsOncology.org/Anomalies/der0110q10p10ID1650.htmlTest; Adriana, Zamecnikova; Soad, Al Bahar. Unbalanced whole-arm translocation der(1;10)(q10-q11;p10-p12). Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2016, 9, p. 494-495; http://hdl.handle.net/2042/66074Test; https://doi.org/10.4267/2042/66074Test

الإتاحة: https://doi.org/10.4267/2042/66074Test
http://hdl.handle.net/2042/66074Test