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1. Full Text Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
by Oetjens, M. T and Kelly, M. A and Sturm, A. C and Martin, C. L and Ledbetter, D. H
Nature communications, ISSN 2041-1723, 10/2019, Volume 10, Issue 1, pp. 4897 - 10
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Rare Diseases - genetics | Receptor, Melanocortin, Type 4 - deficiency | Humans | Middle Aged | Male | Chromosome Duplication - genetics | Sex Chromosome Disorders of Sex Development - genetics | Multifactorial Inheritance | Obesity - genetics | Intellectual Disability - genetics | Klinefelter Syndrome - genetics | Sex Chromosome Aberrations | Cholesterol, LDL - blood | Female | Hypobetalipoproteinemias - genetics | Chromosomes, Human, Pair 16 - genetics | Autistic Disorder - genetics | Body Mass Index | Chromosome Deletion | Receptors, LDL - genetics | Chromosomes, Human, X - genetics | Apolipoproteins B - genetics | Proprotein Convertase 9 - genetics | Receptor, Melanocortin, Type 4 - genetics | Body Height - genetics | Cholesterol, LDL - genetics | Trisomy - genetics | XYY Karyotype - genetics | Turner Syndrome - genetics | Chromosome Disorders - genetics | Hyperlipoproteinemia Type II - genetics | Sex chromosomes | Genetic disorders | Disease | Disorders | Health risks | Melanocortin | Melanocortin MC4 receptors | Cholesterol | Hypercholesterolemia | Predictions | Lipoprotein (low density) receptors | Chromosomes | Polygenic inheritance | Index Medicus
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2. Full Text Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory
by Petersen, Andrea K and Cheung, Sau Wai and Smith, Janice L and Bi, Weimin and Ward, Patricia A and Peacock, Sandra and Braxton, Alicia and Van Den Veyver, Ignatia B and Breman, Amy M
American journal of obstetrics and gynecology, ISSN 0002-9378, 12/2017, Volume 217, Issue 6, pp. 691.e1 - 691.e6
amniocentesis | trisomy 13 | trisomy 21 | 47,XXY | noninvasive prenatal testing | noninvasive prenatal screening | 47,XXX | 47,XYY | cell-free DNA | NIPT | prenatal diagnosis | microdeletion syndrome | trisomy 18 | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Chromosome Disorders - blood | Predictive Value of Tests | Turner Syndrome - blood | Cri-du-Chat Syndrome - diagnosis | Humans | Angelman Syndrome - diagnosis | Sex Chromosome Disorders of Sex Development - genetics | Turner Syndrome - diagnosis | Sex Chromosome Disorders of Sex Development - blood | Trisomy 18 Syndrome - diagnosis | Cri-du-Chat Syndrome - genetics | Klinefelter Syndrome - blood | Klinefelter Syndrome - genetics | Sex Chromosome Aberrations | Microarray Analysis | Karyotyping | Down Syndrome - blood | Angelman Syndrome - genetics | Chorionic Villi Sampling | Chromosome Disorders - diagnosis | Prader-Willi Syndrome - genetics | Female | Down Syndrome - diagnosis | Amniocentesis | Prader-Willi Syndrome - diagnosis | Trisomy 13 Syndrome - genetics | Chromosomes, Human, X - genetics | Prader-Willi Syndrome - blood | Prenatal Diagnosis | In Situ Hybridization, Fluorescence | Cri-du-Chat Syndrome - blood | Pregnancy | Trisomy 18 Syndrome - blood | Sex Chromosome Disorders of Sex Development - diagnosis | Trisomy - diagnosis | Trisomy - genetics | Trisomy 13 Syndrome - blood | Cell-Free Nucleic Acids - blood | Trisomy 18 Syndrome - genetics | Down Syndrome - genetics | Klinefelter Syndrome - diagnosis | Turner Syndrome - genetics | Angelman Syndrome - blood | Trisomy 13 Syndrome - diagnosis | Chromosome Disorders - genetics | DNA microarrays | Medical screening | Pregnant women | Chromosomes | Analysis | Index Medicus | Abridged Index Medicus
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3. Full Text A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome
by Pereira, Patricia Lopes and Magnol, Laetitia and Sahún, Ignasi and Brault, Véronique and Duchon, Arnaud and Prandini, Paola and Gruart, Agnès and Bizot, Jean-Charles and Chadefaux-Vekemans, Bernadette and Deutsch, Samuel and Trovero, Fabrice and Delgado-García, José María and Antonarakis, Stylianos E and Dierssen, Mara and Herault, Yann
Human molecular genetics, ISSN 0964-6906, 12/2009, Volume 18, Issue 24, pp. 4756 - 4769
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Chromosome aberrations | Exploratory Behavior | Gene Duplication | ATP Binding Cassette Transporter, Sub-Family G, Member 1 | Genetic Code | Lipoproteins - genetics | Humans | Memory | Gene Dosage | Learning | Motor Activity - genetics | Splicing Factor U2AF | Anxiety - genetics | Animals | Trisomy - genetics | ATP-Binding Cassette Transporters - genetics | Electrical Synapses - physiology | Mice, Mutant Strains | Gene Deletion | Down Syndrome - genetics | Ribonucleoproteins - genetics | Mice | Nuclear Proteins - genetics | Disease Models, Animal | Index Medicus
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4. Full Text Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype
by Hadj Amor, Meriam and Dimassi, Sarra and Taj, Amel and Slimani, Wafa and Hannachi, Hanene and Mlika, Adnene and Ben Helel, Khaled and Saad, Ali and Mougou-Zerelli, Soumaya
BMC medical genetics, ISSN 1471-2350, 02/2020, Volume 21, Issue 1, pp. 26 - 26
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Contactins - genetics | Neurons - pathology | Cell Adhesion Molecules - genetics | Lissencephaly - diagnosis | Microtubule-Associated Proteins - genetics | Humans | Child, Preschool | Cell Movement - genetics | Chromosomes, Human, Pair 17 - genetics | 1-Alkyl-2-acetylglycerophosphocholine Esterase - genetics | Lissencephaly - physiopathology | Female | Neurons - metabolism | 14-3-3 Proteins - genetics | Chromosome Deletion | Gene Dosage - genetics | Classical Lissencephalies and Subcortical Band Heterotopias - genetics | Genetic Association Studies | Classical Lissencephalies and Subcortical Band Heterotopias - diagnosis | In Situ Hybridization, Fluorescence | Classical Lissencephalies and Subcortical Band Heterotopias - physiopathology | Meiosis - genetics | Phenotype | Trisomy - genetics | Comparative Genomic Hybridization | Lissencephaly - genetics | Chromosomes, Human, Pair 3 - genetics | Translocation, Genetic - genetics | Translocation (Genetics) | Health aspects | Gene dosage | Phenotypes | Leukocyte migration | Chromosome deletion | Meiosis | Genomes | Hybridization | Chromosome 3 | Patients | Genotype & phenotype | Miller-Dieker syndrome | Magnetic resonance imaging | Lissencephaly | Gene rearrangement | Fluorescence in situ hybridization | Cytogenetics | Chromosomes | Deoxyribonucleic acid--DNA | Cell migration | Index Medicus | Partial trisomy 17p13.3 | CHL1 | Miller-Dieker syndrome critical region | Partial monosomy 3p26.2 | PAFAH1B1
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5. Full Text The clinical significance of NOTCH1 and SF3B1 mutations in the UK LRF CLL4 trial
by Oscier, David G and Rose-Zerilli, Matthew J. J and Winkelmann, Nils and De Castro, David Gonzalez and Gomez, Belen and Forster, Jade and Parker, Helen and Parker, Anton and Gardiner, Anne and Collins, Andrew and Else, Monica and Cross, Nicholas C. P and Catovsky, Daniel and Strefford, Jonathan C
Blood, ISSN 0006-4971, 01/2013, Volume 121, Issue 3, pp. 468 - 475
Life Sciences & Biomedicine | Hematology | Science & Technology | Education, Medical, Continuing | Prognosis | Chlorambucil - therapeutic use | Humans | Middle Aged | Male | Leukemia, Lymphocytic, Chronic, B-Cell - genetics | Cyclophosphamide - therapeutic use | Tumor Suppressor Protein p53 - genetics | Incidence | Ribonucleoprotein, U2 Small Nuclear - genetics | Aged, 80 and over | Adult | Female | Chromosomes, Human, Pair 12 - genetics | ADP-ribosyl Cyclase 1 - genetics | Risk Factors | RNA Splicing Factors | Vidarabine - analogs & derivatives | Phosphoproteins - genetics | Vidarabine - therapeutic use | Membrane Glycoproteins - genetics | Antineoplastic Agents, Alkylating - therapeutic use | Trisomy - genetics | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | Immunoglobulin Variable Region - genetics | Aged | Biomarkers, Tumor - genetics | Leukemia, Lymphocytic, Chronic, B-Cell - mortality | Leukemia, Lymphocytic, Chronic, B-Cell - drug therapy | Receptor, Notch1 - genetics | Immunoglobulin Heavy Chains - genetics | Index Medicus | Abridged Index Medicus
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6. Full Text A distinct epigenetic program underlies the 1;7 translocation in myelodysplastic syndromes
by Fernandez, Anair Graciela Lema and Crescenzi, Barbara and Pierini, Valentina and Di Battista, Valeria and Barba, Gianluca and Pellanera, Fabrizia and Di Giacomo, Danika and Roti, Giovanni and Piazza, Rocco and Adelman, Emmalee R and Figueroa, Maria E and Mecucci, Cristina
Leukemia, ISSN 0887-6924, 2019, Volume 33, Issue 10, pp. 2481 - 2494
Oncology | Life Sciences & Biomedicine | Hematology | Science & Technology | Humans | Middle Aged | Male | Binding Sites - genetics | Monosomy - genetics | Down-Regulation - genetics | Karyotyping - methods | Trisomy - genetics | Epigenomics - methods | Epigenesis, Genetic - genetics | Aged, 80 and over | Adult | Female | Aged | Myelodysplastic Syndromes - genetics | Retrospective Studies | Transcription, Genetic - genetics | Chromosome Disorders - genetics | Translocation, Genetic - genetics | Epigenetic inheritance | Care and treatment | Genetic aspects | Translocation (Genetics) | Health aspects | Myelodysplastic syndromes | Translocation | Therapy | Deregulation | Trisomy | p53 Protein | Genes | Disorders | Lipids | Ribonucleic acid--RNA | Gene expression | Myelodysplastic syndrome | Subgroups | Neoplasms | Chromosome 1 | Enhancers | Genetic analysis | Epigenetics | Cytogenetics | Binding sites | Monosomy | Index Medicus
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7. Full Text The presence of extra chromosomes leads to genomic instability
by Passerini, Verena and Ozeri-Galai, Efrat and De Pagter, Mirjam S and Donnelly, Neysan and Schmalbrock, Sarah and Kloosterman, Wigard P and Kerem, Batsheva and Storchová, Zuzana
Nature communications, ISSN 2041-1723, 02/2016, Volume 7, Issue 1, pp. 10754 - 10754
Chemistry(all) | Biochemistry, Genetics and Molecular Biology(all) | Research Support, Non-U.S. Gov't | Journal Article | Physics and Astronomy(all) | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Cell Cycle - genetics | Cell Line | Chromosomes, Human, Pair 8 - genetics | Oligonucleotide Array Sequence Analysis | HCT116 Cells | Humans | Minichromosome Maintenance Proteins - metabolism | Aneuploidy | Chromosomes, Human, Pair 21 - genetics | Sequence Analysis, DNA | Microscopy, Confocal | Trisomy - genetics | Comparative Genomic Hybridization | Metaphase - genetics | Neoplasms - genetics | Fluorescent Antibody Technique | DNA - biosynthesis | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Tetrasomy - genetics | Chromosomes, Human, Pair 3 - genetics | Genomic Instability - genetics | Chromosomes, Human, Pair 5 - genetics | Index Medicus
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8. Full Text Tumour angiogenesis is reduced in the Tc1 mouse model of Down's syndrome
by Jones, Tania A and Joffre, Carine and Adams, Ralf and Watson, Alan R and Martino-Echarri, Estefanía and Hodivala-Dilke, Kairbaan M and Tybulewicz, Victor L. J and Hart, Ian R and D'Amico, Gabriela and Robinson, Stephen D and Sheer, Denise and Baker, Marianne and Rodriguez-Manzaneque, Juan Carlos and Garrido-Urbani, Sarah and McCabe, Christopher J and Dagna-Bricarelli, Franca and Fisher, Elizabeth M. C and Turnell, Andrew S and Kermorgant, Stephanie and Reynolds, Louise E and Aurrand-Lions, Michel and Nizetic, Dean and Imhof, Beat A
Nature, ISSN 0028-0836, 06/2010, Volume 465, Issue 7299, pp. 813 - 817
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Transcriptional Regulator ERG | Neoplasm Transplantation | Oncogene Proteins - genetics | Cell Adhesion Molecules - genetics | Chromosomes, Mammalian - genetics | Humans | Cell Adhesion Molecules - antagonists & inhibitors | Male | Down Syndrome - physiopathology | Vascular Endothelial Growth Factor A - metabolism | Immunoglobulins - genetics | Vascular Endothelial Growth Factor A - antagonists & inhibitors | Carcinoma, Lewis Lung - blood supply | Neovascularization, Pathologic - pathology | Immunoglobulins - metabolism | Carcinoma, Lewis Lung - complications | Proto-Oncogene Protein c-ets-2 - genetics | Down Syndrome - complications | Female | Proto-Oncogene Protein c-ets-2 - metabolism | Vascular Endothelial Growth Factor A - pharmacology | ADAMTS1 Protein | Disease Models, Animal | Gene Dosage - genetics | Melanoma, Experimental - blood supply | Oncogene Proteins - metabolism | Melanoma, Experimental - complications | Melanoma, Experimental - pathology | Vascular Endothelial Growth Factor Receptor-2 - metabolism | Cell Adhesion Molecules - metabolism | Carrier Proteins - genetics | ADAM Proteins - metabolism | Animals | Carcinoma, Lewis Lung - genetics | Carrier Proteins - metabolism | Melanoma, Experimental - genetics | Trisomy - genetics | Down Syndrome - genetics | Carcinoma, Lewis Lung - pathology | Neovascularization, Pathologic - genetics | Mice | Transcription Factors | ADAM Proteins - genetics | Complications and side effects | Physiological aspects | Development and progression | Genetic aspects | Down syndrome | Neovascularization | Research | Risk factors | Tumors | Proteins | Studies | Angiogenesis | Genotype & phenotype | Rodents | Blood vessels | Genetic engineering | Gene therapy | Vascular endothelial growth factor | Index Medicus
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