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1. A Subset of Retinoblastoma Lacking RB1 Gene Mutations have High-level MYCN Gene Amplification
by Yee, Stephanie
06/2010
Retinoblastoma is the prototype genetic cancer caused by mutations disrupting the RB1 tumor suppressor gene. Following loss of RB1, retinoblastoma acquires... 
MYCN | Genetics | Retinoblastoma | aCGH
Dissertation
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2. Full Text 31. CHROMOSOMAL MOSAICISM AS A RISK FACTOR FOR INCORRECT RESULTS OF PGT-A
by Kaimonov, V and Musatova, E and Khryapenkova, T and Zinina, J and Ilyin, K and Pomerantseva, E
Reproductive BioMedicine Online, ISSN 1472-6483, 08/2019, Volume 39, pp. e45 - e46
PGT-A | aCGH | mosaicism
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3. Full Text Comparison of different platforms for preimplantation genetic testing in IVF cycle
by Bikanov, R and Kaimonov, V and Mironova, I and Musatova, E and Libman, N and Pomerantseva, E
Reproductive BioMedicine Online, ISSN 1472-6483, 04/2019, Volume 38, pp. e58 - e58
PGS | aCGH | NGS
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4. Full Text Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency sydnrome
by Ivanova, Nevyana and Peycheva, Valentina and Kamenarova, Kunka and Kancheva, Dalia and Tsekova, Irina and Aleksandrova, Iliana and Hristova, Dimitrina and Litvinenko, Ivan and Todorova, Diana and Sarailieva, Gergana and Dimova, Petya and Tomov, Veselin and Bozhinova, Veneta and Mitev, Vanio and Kaneva, Radka and Jordanova, Albena
Seizure, ISSN 1059-1311, 01/2018, Volume 54, pp. 41 - 44
Purpose GLUT1-deficiency syndrome (GLUT1-DS) is a metabolic brain disorder with a great clinical heterogeneity underlined by various mutations in the SLC2A1... 
GLUT1-DS | SLC2A1 mutations | aCGH analysis
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5. Full Text IMPACT OF INTRODUCTION OF NIPT ON UPTAKE OF GENETIC TESTING IN FETUSES WITH CNS ANOMALIES
by Altoukhi, Samar and Chitayat, David and Keunen, Johannes and Roifman, Maian and Seaward, Gareth and Windrim, Rory and Ryan, Greg and Van Mieghem, Tim
Journal of Obstetrics and Gynaecology Canada, ISSN 1701-2163, 05/2019, Volume 41, Issue 5, pp. 708 - 708
cffDNA | amniocentesis | microarray | neurosonogram | aCGH
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6. Full Text Application of dual-genome oligonucleotidearray-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes
by Chinault, A Craig and Shaw, Chad A and Brundage, Ellen K and Tang, Lin-Ya and Wong, Lee-Jun C
Genetics in Medicine, ISSN 1098-3600, 07/2009, Volume 11, Issue 7, pp. 518 - 526
Dual genome disorder | ACGH diagnosis of mitochondrial disorders | Mitochondrial DNA deletion | MtDNA depletion | Oligonucleotide aCGH
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7. Full Text Preimplantation genetic testing: method and two case studies of familial three-way complex translocations
by Staykova, Slavyana Yaneva and Staneva, Rada and Stamenov, Georgi and Pancheva, Maria and Serafimova, Maria and Nikolova, Kristina and Toncheva, Draga and Hadjidekova, Savina
Biotechnology & Biotechnological Equipment, ISSN 1310-2818, 01/2019, Volume 33, Issue 1, pp. 1663 - 1670
Preimplantation genetic testing (PGT) is presently the only option available for detecting genetic conditions in embryos created through in vitro fertilization... 
translocations | PGT | complex chromosomal rearrangements | aCGH
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8. Prenatal diagnosis of a complex chromosomal rearrangement involving five chromosomes
by Wang, Bo and Lu, Dan and Shi, Zuliang and Ke, Jian and Zhao, Qi and Li, Hongjun
Clinical and Experimental Obstetrics and Gynecology, ISSN 0390-6663, 2018, Volume 45, Issue 5, pp. 797 - 799
Prenatal diagnosis | Reciprocal translocation | Karyotype analysis | ACGH
Journal Article
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9. Full Text aCGH Analysis of Predictive Biomarkers for Response to Bevacizumab plus Oxaliplatin‐ or Irinotecan‐Based Chemotherapy in Patients with Metastatic Colorectal Cancer
by Fujita, Yoshihiko and Taguri, Masataka and Yamazaki, Kentaro and Tsurutani, Junji and Sakai, Kazuko and Tsushima, Takahiro and Nagase, Michitaka and Tamagawa, Hiroshi and Ueda, Shinya and Tamura, Takao and Tsuji, Yasushi and Murata, Kohei and Taira, Koichi and Denda, Tadamichi and Moriwaki, Toshikazu and Funai, Sadao and Nakajima, Takako Eguchi and Muro, Kei and Tsuji, Akihito and Yoshida, Motoki and Suyama, Koichi and Kurimoto, Takuya and Sugimoto, Naotoshi and Baba, Eishi and Seki, Nobuhiko and Sato, Mikio and Shimura, Takaya and Boku, Narikazu and Hyodo, Ichinosuke and Yamanaka, Takeharu and Nishio, Kazuto
The Oncologist, ISSN 1083-7159, 03/2019, Volume 24, Issue 3, pp. 327 - 337
Background The randomized phase III study (WJOG4407G) showed equivalent efficacy between FOLFOX and FOLFIRI in combination with bevacizumab as the first‐line... 
Irinotecan | Oxaliplatin | aCGH analysis | Colorectal cancer | Bevacizumab | MIR29 | EFFICACY | ONCOLOGY | MYC | GENES
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10. Full Text Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: A case report 06 Biological Sciences 0604 Genetics
by Vado, Yerai and Vado, Yerai and Errea-Dorronsoro, Javier and Errea-Dorronsoro, Javier and Llano-Rivas, Isabel and Llano-Rivas, Isabel and Gorria, Nerea and Gorria, Nerea and Pereda, Arrate and Pereda, Arrate and Gener, Blanca and Gener, Blanca and Garcia-Naveda, Laura and Garcia-Naveda, Laura and Perez De Nanclares, Guiomar and Perez de Nanclares, Guiomar
BMC medical genomics, 12/2018, Volume 11, Issue 1, p. 124
Deletion | Cri-du-chat syndrome | aCGH | Silver-Russell syndrome
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11. Full Text Neuroarray, a custom CGH microarray to decipher copy number variants in alzheimer’s disease
by Cuccaro, Denis and Guarnaccia, Maria and Iemmolo, Rosario and D’Agata, Velia and Cavallaro, Sebastiano
Current Genomics, ISSN 1389-2029, 2018, Volume 19, Issue 6, pp. 499 - 504
Diagnosis | Alzheimer’s disease | ACGH | NeuroArray | Genomics | Copy number variants | aCGH
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12. Full Text Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders
by Campbell, Ian M and Yuan, Bo and Robberecht, Caroline and Pfundt, Rolph and Szafranski, Przemyslaw and McEntagart, Meriel E and Nagamani, Sandesh C.S and Erez, Ayelet and Bartnik, Magdalena and Wiśniowiecka-Kowalnik, Barbara and Plunkett, Katie S and Pursley, Amber N and Kang, Sung-Hae L and Bi, Weimin and Lalani, Seema R and Bacino, Carlos A and Vast, Mala and Marks, Karen and Patton, Michael and Olofsson, Peter and Patel, Ankita and Veltman, Joris A and Cheung, Sau Wai and Shaw, Chad A and Vissers, Lisenka E.L.M and Vermeesch, Joris R and Lupski, James R and Stankiewicz, Paweł
The American Journal of Human Genetics, ISSN 0002-9297, 08/2014, Volume 95, Issue 2, pp. 173 - 182
New human mutations are thought to originate in germ cells, thus making a recurrence of the same mutation in a sibling exceedingly rare. However, increasing... 
ORIGIN | MUTATION | GENETICS & HEREDITY | DETECTABLE CLONAL MOSAICISM | ACGH | AGE | DELETION | Recurrence | Gametogenesis - genetics | Prospective Studies | Genomics | Humans | Genetic Diseases, Inborn - genetics | Male | Risk | DNA Copy Number Variations - genetics | Sex Characteristics | Germ-Line Mutation - genetics | Smith-Magenis Syndrome - genetics | Pedigree | Cell Division | Female | Mosaicism | Germ Cells - cytology | Models, Genetic | Mutation | Research | Gene mutations | Analysis
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13. Full Text Chromosomal and miRNA Expression Patterns Reveal Biologically Distinct Subgroups of 11q− Neuroblastoma
by Buckley, Patrick G and Alcock, Leah and Bryan, Kenneth and Bray, Isabella and Schulte, Johannes H and Schramm, Alexander and Eggert, Angelika and Mestdagh, Pieter and De Preter, Katleen and Vandesompele, Jo and Speleman, Frank and Stallings, Raymond L
Clinical cancer research : an official journal of the American Association for Cancer Research, ISSN 1078-0432, 6/2010, Volume 16, Issue 11, pp. 2971 - 2978
neuroblastoma | miRNA | MYCN | aCGH
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14. Full Text MiRNA expression profiles in myelodysplastic syndromes reveal EpsteinBarr virus miR-BART13 dysregulation
by Borze, Ioana and Scheinin, Ilari and Siitonen, Sanna and Elonen, Erkki and Juvonen, Eeva and Knuutila, Sakari
Leukemia and Lymphoma, ISSN 1042-8194, 08/2011, Volume 52, Issue 8, pp. 1567 - 1573
miRNA array | MDS | bone marrow smear | aCGH
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15. Full Text A first comparative map of copy number variations in the sheep genome
by Fontanesi, L and Beretti, F and Martelli, P.L and Colombo, M and Dall'Olio, S and Occidente, M and Portolano, B and Casadio, R and Matassino, D and Russo, V
Genomics, ISSN 0888-7543, 2011, Volume 97, Issue 3, pp. 158 - 165
We carried out a cross species cattle–sheep array comparative genome hybridization experiment to identify copy number variations (CNVs) in the sheep genome... 
Sheep breeds | Copy number variation | Ovis aries | Comparative map | aCGH | Ruminants | ACGH | LINKAGE MAP | DNA-SEQUENCES | DIFFERENT COAT COLORS | RADIATION HYBRID PANEL | MAJOR HISTOCOMPATIBILITY COMPLEX | ARRAY CGH DATA | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | SIGNALING PROTEIN ASIP | GENETICS & HEREDITY | GENE-EXPRESSION | FAMILY BOVIDAE | STRUCTURAL VARIATION | Animals | Oligonucleotide Array Sequence Analysis | Cattle | Chromosomes - genetics | Chromosome Mapping | DNA Copy Number Variations - genetics | Comparative Genomic Hybridization - methods | Genome | Sheep - genetics | Comparative analysis | Sheep | Genomics | DNA microarrays | Dairies | DNA probes | copy number | Chromosomes
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16. Full Text 16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders
by Ramalingam, Arivudainambi and Zhou, Xin-Gang and Fiedler, Stephanie D and Brawner, Sarah J and Joyce, Julie M and Liu, Hong-Yu and Yu, Shihui
Journal of Human Genetics, ISSN 1434-5161, 07/2011, Volume 56, Issue 7, pp. 541 - 544
The chromosome 16p13.11 heterozygous deletion is associated with a diverse array of neuropsychiatric disorders including intellectual disabilities, autism,... 
neuropsychiatric disorders | deletion | chromosome 16p13.11 | duplication; microarray-based comparative genomic hybridization (aCGH) | MICRODELETION | AUTISM | VARIANTS | RARE CHROMOSOMAL DELETIONS | SCHIZOPHRENIA | duplication | DISEASE | GENETICS & HEREDITY | microarray-based comparative genomic hybridization (aCGH) | COMPARATIVE GENOMIC HYBRIDIZATION | PREDISPOSE | ARRAY CGH | CEREBRAL CORTICAL SIZE | Autistic Disorder - genetics | Gene Duplication | Sequence Deletion | Seizures - genetics | Comparative Genomic Hybridization | Humans | Risk Factors | Developmental Disabilities - genetics | Abnormalities, Multiple - genetics | Chromosomes, Human, Pair 16 - genetics
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17. Full Text American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
by Kearney, Hutton M and Thorland, Erik C and Brown, Kerry K and Quintero-Rivera, Fabiola and South, Sarah T and ACMG Lab Quality Assurance Comm and Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee
Genetics in Medicine, ISSN 1098-3600, 07/2011, Volume 13, Issue 7, pp. 680 - 685
Genomic microarrays used to assess DNA copy number are now recommended as first-tier tests for the postnatal evaluation of individuals with intellectual... 
copy number variant | microarray | CNV | CMA | aCGH | MICRODELETION | DIAGNOSIS | INTERSTITIAL DELETION | CHROMOSOME | HUMAN GENOME | DISEASE | GENETICS & HEREDITY | MUTATIONS | SCALE | STRUCTURAL VARIATION | Autistic Disorder - genetics | Microarray Analysis - methods | Clinical Laboratory Techniques - statistics & numerical data | Gene Dosage - genetics | Genetics, Medical - methods | Genetics, Medical - standards | Humans | Developmental Disabilities - genetics | Clinical Laboratory Techniques - standards | Microarray Analysis - statistics & numerical data | Genetics, Medical - statistics & numerical data | Genome, Human - genetics | Intellectual Disability - genetics | Genetic Variation | Clinical Laboratory Techniques - methods | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Microarray Analysis - standards | Autistic Disorder - diagnosis | Child | Developmental Disabilities - diagnosis | Abnormalities, Multiple - genetics | Autism | genomics | Genomes | copy number | Congenital defects | Mental retardation
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18. Full Text The presence of genomic imbalances is associated with poor outcome in patients with burkitt lymphoma treated with dose‐intensive chemotherapy including rituximab
by Forero‐Castro, Maribel and Robledo, Cristina and Lumbreras, Eva and Benito, Rocio and Hernández‐Sánchez, Jesús M and Hernández‐Sánchez, María and García, Juan L and Corchete‐Sánchez, Luis A and Tormo, Mar and Barba, Pere and Menárguez, Javier and Ribera, Jordi and Grande, Carlos and Escoda, Lourdes and Olivier, Carmen and Carrillo, Estrella and García de Coca, Alfonso and Ribera, Josep‐María and Hernández‐Rivas, Jesús M
British Journal of Haematology, ISSN 0007-1048, 02/2016, Volume 172, Issue 3, pp. 428 - 438
Summary The introduction of Rituximab has improved the outcome and survival rates of Burkitt lymphoma (BL). However, early relapse and refractoriness are... 
rituximab | next‐generation sequencing | outcome | Burkitt lymphoma | array‐based comparative genomic hybridization (aCGH) | Rituximab | Next-generation sequencing | Outcome | Array-based comparative genomic hybridization (aCGH) | SURVIVAL | next-generation sequencing | ABNORMALITIES | FOLLICULAR LYMPHOMA | HYBRIDIZATION | TP53 MUTATIONS | CHROMOSOMAL ALTERATIONS | array-based comparative genomic hybridization (aCGH) | B-CELL LYMPHOMA | HIGH-RESOLUTION | NON-HODGKINS-LYMPHOMA | HEMATOLOGY | EXPRESSION | Prognosis | Humans | Middle Aged | Kaplan-Meier Estimate | Male | Treatment Outcome | Comparative Genomic Hybridization - methods | Rituximab - administration & dosage | Young Adult | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | Adolescent | Chromosome Aberrations | Burkitt Lymphoma - genetics | Adult | Female | Aged | Genome | High-Throughput Nucleotide Sequencing - methods | Burkitt Lymphoma - drug therapy | Antimitotic agents | Care and treatment | Chemotherapy | Patient outcomes | Analysis | Cytogenetics | Genetic aspects | Tumor proteins | Antineoplastic agents | Burkitt's lymphoma | Cancer
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19. 17p13.3 duplication as a cause of psychomotor developmental delay in an infant - a further case of a new syndrome
by Przybylska-Kruszewska, Amanda and Kutkowska-Kaźmierczak, Anna and Krzywdzińska, Amanda and Smyk, Marta and Nowakowska, Beata and Gryglicka, Halina and Obersztyn, Ewa and Hozyasz, Kamil K
Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego, ISSN 1426-9686, 04/2016, Volume 40, Issue 238, pp. 255 - 259
psychomotor delay | chromosomal aberrations | 17p13.3 duplication | aCGH
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20. Full Text Clinical genetic testing for patients with autism spectrum disorders
by Shen, Yiping and Dies, Kira A and Holm, Ingrid A and Bridgemohan, Carolyn and Sobeih, Magdi M and Caronna, Elizabeth B and Miller, Karen J and Frazier, Jean A and Silverstein, Iris and Picker, Jonathan and Weissman, Laura and Raffalli, Peter and Jeste, Shafali and Demmer, Laurie A and Peters, Heather K and Brewster, Stephanie J and Kowalczyk, Sara J.J and Rosen-Sheidley, Beth and McGowan, Caroline and Duda III, Andrew W and Lincoln, Sharyn A and Lowe, Kathryn R and Schonwald, Alison and Robbins, Michael and Hisama, Fuki and Wolff, Robert and Becker, Ronald and Nasir, Ramzi and Urion, David K and Milunsky, Jeff M and Rappaport, Leonard and Gusella, James F and Walsh, Christopher A and Wu, Bai-Lin and Miller, David T and Autism Consortium Clinical and Autism Consortium Clinical Genetics/DNA Diagnostics Collaboration and on behalf of the Autism Consortium Clinical Genetics/DNA Diagnostics Collaboration
Pediatrics, ISSN 0031-4005, 04/2010, Volume 125, Issue 4, pp. e727 - e735
BACKGROUND: Multiple lines of evidence indicate a strong genetic contribution to autism spectrum disorders (ASDs). Current guidelines for clinical genetic... 
Microdeletion | ASD | Neuropsychiatric disorders | Language delay | Array CGH | ACGH | Autism spectrum disorder | Microduplication | array CGH | MENTAL-RETARDATION | MICROARRAY | microdeletion | FISH ANALYSIS | IMBALANCES | aCGH | PERVASIVE DEVELOPMENTAL DISORDERS | CHROMOSOMAL REARRANGEMENTS | CHILDREN | language delay | microduplication | COPY-NUMBER | ARRAY-CGH | neuropsychiatric disorders | PEDIATRICS | autism spectrum disorder | COMPARATIVE GENOMIC HYBRIDIZATION | Microarray Analysis - methods | Humans | Child, Preschool | Infant | Male | Genetic Testing - methods | Karyotyping - methods | Young Adult | Child Development Disorders, Pervasive - genetics | Adolescent | Child Development Disorders, Pervasive - diagnosis | Female | Child | Cohort Studies | Autism | Genetic testing | Clinical medicine | Patients | Chromosomes | Deoxyribonucleic acid--DNA
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