المؤلفون: Green, AJ, Smith, M, Yates, JR

المصدر: Nature genetics. 6(2)

مصطلحات موضوعية: Chromosomes, Human, Pair 9, Chromosomes, Human, Pair 16, Humans, Hamartoma, Tuberous Sclerosis, Angiomyolipoma, Astrocytoma, Kidney Neoplasms, DNA, Neoplasm, Genetic Markers, Pedigree, Gene Deletion, Heterozygote, Alleles, Genes, Tumor Suppressor, Female, Male, Chromosomes, Human, Pair 9, Pair 16, DNA, Neoplasm, Genes, Tumor Suppressor, dna marker, tumor marker, angiomyolipoma, article, astrocytoma, autosomal dominant disorder, chromosome 16p, chromosome 9q, gene mapping, genetic linkage, hamartoma, heterozygosity, human, polymerase chain reaction, priority journal, rhabdomyoma, tuberous sclerosis, tumor suppressor gene, Medical and Health Sciences, Biological Sciences, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5gx0c96qTest

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: Alsop, Amber E., Taylor, Karen J., Zhang, Jieqing, Gabra, Hani, Paige, Adam J.W., Edwards, Paul A.W.

المساهمون: University of Cambridge

مصطلحات موضوعية: Base Sequence, Cell Line, Tumor, Chromosomes, Human, Pair 16, Colonic Neoplasms, DNA Primers, Exons, Gene Deletion, Homozygote, Humans, Mutation, Oxidoreductases, Polymerase Chain Reaction, RNA, Messenger, Translocation, Genetic, Tumor Suppressor Proteins

العلاقة: http://www.ncbi.nlm.nih.gov/pubmed/18273838Test; Alsop, A.E. et al (2008) 'Homozygous deletions may be markers of nearby heterozygous mutations: The complex deletion at FRA16D in the HCT116 colon cancer cell line removes exons of WWOX' Genes Chromosomes Cancer 47 (5):437-447; http://hdl.handle.net/10547/228926Test; Genes, chromosomes & cancer

الإتاحة: https://doi.org/10.1002/gcc.20548Test
http://hdl.handle.net/10547/228926Test

المؤلفون: Naomi Porret, Ekkehard Hewer, Ulrike Bacher, Johanna Flach, Myriam Legros, Jacqueline Schoumans, Joelle Tchinda, Urban Novak, Evgenii Shumilov, Thomas Pabst, Ilaria Scarpelli, Raphael Joncourt

المصدر: Genes, chromosomescancerREFERENCES. 59(4)

مصطلحات موضوعية: Male, Cancer Research, medicine.medical_specialty, Oncogene Proteins, Fusion, Chromosomes, Human, Pair 21, Chromosomal translocation, Biology, DNA sequencing, Translocation, Genetic, law.invention, Fusion gene, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, law, hemic and lymphatic diseases, Cell Line, Tumor, Genetics, medicine, Biomarkers, Tumor, Humans, Polymerase chain reaction, Genetic Association Studies, In Situ Hybridization, Fluorescence, Aged, Gene Rearrangement, medicine.diagnostic_test, Cytogenetics, Myeloid leukemia, High-Throughput Nucleotide Sequencing, Repressor Proteins, Leukemia, Myeloid, Acute, RUNX1, chemistry, 030220 oncology & carcinogenesis, embryonic structures, Core Binding Factor Alpha 2 Subunit, Cancer research, Chromosomes, Human, Pair 16, Fluorescence in situ hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::794dfbe995da7554b1fdfacf88ab060eTest
https://pubmed.ncbi.nlm.nih.gov/31756777Test

المؤلفون: Amanda M, Harbison, Jenny Ngoc Tran, Nguyen

المصدر: Methods in molecular biology (Clifton, N.J.). 1606

مصطلحات موضوعية: Polymorphism, Genetic, Genotyping Techniques, Alu Elements, Humans, Polymerase Chain Reaction, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::4a308e64a725ed045b4ed6900bfe0be2Test
https://pubmed.ncbi.nlm.nih.gov/28502002Test

المؤلفون: Juan, Li, Yu, Ding, Guoying, Chang, Qing, Cheng, Xin, Li, Jian, Wang, Xiumin, Wang, Yiping, Shen

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 34(1)

مصطلحات موضوعية: Family Health, Male, Heterozygote, Base Sequence, Micrognathism, Origin Recognition Complex, Patella, Sequence Analysis, DNA, Uniparental Disomy, Polymerase Chain Reaction, Fathers, Mutation, Humans, Child, Chromosomes, Human, Pair 16, Growth Disorders, Congenital Microtia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::17a9bfdff69cec49717ff6b9802a2306Test
https://pubmed.ncbi.nlm.nih.gov/28186598Test

المؤلفون: Mitsuru Miyachi, Takao Yoshihara, Waka Hatano, Hiroyuki Ishida, Akiyo Furutani, Hajime Hosoi, Daisuke Asai, Kunihiko Tsuchiya, Tomoko Iehara, Toshihiko Imamura, Shinichi Tamura, Atsushi Fujiki, Yoshifumi Hirashima

المصدر: Journal of Pediatric Hematology/Oncology. 34:402-405

مصطلحات موضوعية: Oncology, medicine.medical_specialty, Neoplasm, Residual, Adolescent, Oncogene Proteins, Fusion, Transcription, Genetic, medicine.medical_treatment, Therapy-Related Acute Myeloid Leukemia, Translocation, Genetic, law.invention, law, hemic and lymphatic diseases, Internal medicine, Humans, Medicine, RNA, Messenger, Polymerase chain reaction, Chemotherapy, Reverse Transcriptase Polymerase Chain Reaction, business.industry, Neoplasms, Second Primary, Hematology, Minimal residual disease, Reverse transcriptase, Transplantation, Leukemia, Myeloid, Acute, medicine.anatomical_structure, Fusion transcript, Pediatrics, Perinatology and Child Health, Female, Bone marrow, business, Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 8

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9904e846aeb888fb40309a58e9790f25Test
https://doi.org/10.1097/mph.0b013e318238818fTest

المؤلفون: Jianyong Li, Xiaotang Ma, Zefeng Xu, Yingchang Mi, Zhijian Xiao, Tiejun Qin, Liang Liu, Yue Zhang, Lin Yang, Jianxiang Wang

المصدر: Leukemia Research. 35:1020-1026

مصطلحات موضوعية: Adult, Male, Oncology, Cancer Research, medicine.medical_specialty, Myeloid, Adolescent, Genotype, Oncogene Proteins, Fusion, Chromosomal translocation, Biology, Bioinformatics, Polymerase Chain Reaction, Translocation, Genetic, Young Adult, XRCC3, Internal medicine, medicine, MYH11, Humans, Child, Survival rate, Aged, Retrospective Studies, Aged, 80 and over, Polymorphism, Genetic, Case-control study, Myeloid leukemia, DNA, Neoplasm, Hematology, Middle Aged, medicine.disease, DNA-Binding Proteins, Survival Rate, Leukemia, Myeloid, Acute, Leukemia, Treatment Outcome, medicine.anatomical_structure, Case-Control Studies, Child, Preschool, Chromosome Inversion, Female, Rad51 Recombinase, Chromosomes, Human, Pair 16, Polymorphism, Restriction Fragment Length, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::caced318a836d2573a7fd8aa799774e4Test
https://doi.org/10.1016/j.leukres.2011.01.014Test

المؤلفون: Bauke Ylstra, Maria Nesterova, Peter Heutink, Linda Den Van Berg, Henriette Delemarre Van De Waal, Constantine A. Stratakis, Paul P. Eijk, Joan C. Han

المساهمون: Pathology, Human genetics, NCA - Addictive Behavior, CCA - Innovative therapy

المصدر: American Journal of Medical Genetics Part A, 152A(3), 630-637. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 152A(3), 630-637
van den Berg, L, Delemarre-van d Waal, H A, Han, J C, Ylstra, B, Eijk, P, Nesterova, M, Heutink, P & Stratakis, C A 2010, ' Investigation of a Patient With a Partial Trisomy 16q Including the Fat Mass and Obesity Associated Gene (FTO): Fine Mapping and FTO Gene Expression Study ', American Journal of Medical Genetics Part A, vol. 152A, no. 3, pp. 630-637 . https://doi.org/10.1002/ajmg.a.33229Test

مصطلحات موضوعية: Adult, BBS2, endocrine system diseases, Gene Dosage, 16q duplication obesity FTO CGH qPCR imprinting SLC6A2 ADHD BBS2 in-situ hybridization interstitial duplication prenatal-diagnosis adult obesity variants microarray resolution childhood anomalies infant, Alpha-Ketoglutarate-Dependent Dioxygenase FTO, Gene Expression, Trisomy, Single-nucleotide polymorphism, Biology, Polymerase Chain Reaction, FTO gene, Gene dosage, Article, Gene mapping, Gene duplication, Genetics, Humans, Breast, Lymphocytes, Obesity, Genetics (clinical), DNA Primers, Oligonucleotide Array Sequence Analysis, Comparative Genomic Hybridization, Base Sequence, Chromosome Mapping, Proteins, nutritional and metabolic diseases, pathological conditions, signs and symptoms, Phenotype, Female, Chromosomes, Human, Pair 16, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70f46e752164c3da883784c653412d42Test
https://hdl.handle.net/1871/46131Test

المؤلفون: R Billström, Claes Malm, Pierre Åman, Felix Mitelman, Stig Lenhoff, Börje Johansson, Ioannis Panagopoulos

المصدر: Europe PubMed Central

مصطلحات موضوعية: Adult, Male, Neuroblastoma RAS viral oncogene homolog, Myeloid, Chromosomes, Human, Pair 21, Molecular Sequence Data, Chromosomal translocation, Biology, Trisomy 8, medicine.disease_cause, Polymerase Chain Reaction, Translocation, Genetic, Bone Marrow, medicine, Humans, Point Mutation, Allele, Cells, Cultured, Aged, DNA Primers, Chromosomal inversion, Aged, 80 and over, Mutation, Base Sequence, Hematology, General Medicine, biochemical phenomena, metabolism, and nutrition, Hematopoietic Stem Cells, medicine.disease, Molecular biology, medicine.anatomical_structure, Leukemia, Myeloid, Acute Disease, Chromosome Inversion, Female, Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 8

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2de0e4e7096b41a66e6d35fd29b698bdTest
https://doi.org/10.1111/j.1600-0609.1996.tb00297.xTest