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1. Full Text Failure of neuronal homeostasis results in common neuropsychiatric phenotypes
by Ramocki, Melissa B and Zoghbi, Huda Y
Nature (London), ISSN 0028-0836, 10/2008, Volume 455, Issue 7215, pp. 912 - 918
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Mental Disorders - genetics | Animals | Synapses - metabolism | Humans | Gene Expression Regulation | Cytoskeleton - metabolism | Neurons - metabolism | Homeostasis - genetics | Mental Disorders - physiopathology | Homeostasis | Physiological aspects | Development and progression | Research | Neurons | Mental illness | Proteins | Molecules | Autism | Disease | Protein synthesis | Social interaction | Rodents | Genetics | Behavior | Index Medicus
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2. Full Text Replicative mechanisms for CNV formation are error prone
by Carvalho, Claudia M B and Pehlivan, Davut and Ramocki, Melissa B and Fang, Ping and Alleva, Benjamin and Franco, Luis M and Belmont, John W and Hastings, P J and Lupski, James R
Nature genetics, ISSN 1061-4036, 09/2013, Volume 45, Issue 11, pp. 1319 - 1327
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Variation | Sequence Deletion | Frameshift Mutation | Base Sequence | Humans | DNA Breaks | DNA Replication - genetics | Genotype | DNA Copy Number Variations - genetics | DNA Repair - genetics | Gene Rearrangement - genetics | Sequence Analysis, DNA | Chromosome replication | Copy number variations | Observations | Identification and classification | Genetic screening | Methods | Standards | Genomes | Mutation | Genetic testing | Gene expression | Genomics | Deoxyribonucleic acid--DNA | Index Medicus | MECP2 | triplication | CNVs | complex rearrangements | MMBIR | FoSTeS | duplication
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3. Full Text Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes
by Carvalho, Claudia M.B and Vasanth, Shivakumar and Shinawi, Marwan and Russell, Chad and Ramocki, Melissa B and Brown, Chester W and Graakjaer, Jesper and Skytte, Anne-Bine and Vianna-Morgante, Angela M and Krepischi, Ana C.V and Patel, Gayle S and Immken, LaDonna and Aleck, Kyrieckos and Lim, Cynthia and Cheung, Sau Wai and Rosenberg, Carla and Katsanis, Nicholas and Lupski, James R
American journal of human genetics, ISSN 0002-9297, 11/2014, Volume 95, Issue 5, pp. 565 - 578
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Immunohistochemistry | Microcephaly - genetics | Microtubule-Associated Proteins - genetics | Chromosome Breakpoints | Humans | Molecular Sequence Data | Chromosomes, Human, Pair 17 - genetics | Intellectual Disability - genetics | Flow Cytometry | Base Sequence | Retrospective Studies | Smith-Magenis Syndrome | Dishevelled Proteins | Abnormalities, Multiple - genetics | Chromosome Deletion | Cell Line | Gene Dosage - genetics | Asialoglycoprotein Receptor - genetics | Acyl-CoA Dehydrogenase, Long-Chain - genetics | Zebrafish | Phosphoproteins - genetics | Sequence Analysis, DNA | Syndrome | Animals | Adaptor Proteins, Signal Transducing - genetics | Genetic research | Genetic aspects | Research | Genetic variation | Mental retardation | Genotype & phenotype | Genetic disorders | Genomics | Genes | Index Medicus
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4. Full Text Altered neuronal network and rescue in a human MECP2 duplication model
by Nageshappa, S and Carromeu, C and Trujillo, C.A and Mesci, P and Espuny-Camacho, I and Pasciuto, E and Vanderhaeghen, P and Verfaillie, C.M and Raitano, S and Kumar, A and Carvalho, C.M.B and Bagni, C and Ramocki, M.B and Araujo, B.H.S and Torres, L.B and Lupski, J.R and Van Esch, H and Muotri, A.R
Molecular psychiatry, ISSN 1359-4184, 02/2016, Volume 21, Issue 2, pp. 178 - 188
Biochemistry & Molecular Biology | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Science & Technology | Dendrites - metabolism | Gene Dosage - physiology | Genetic Association Studies | Neurons | Humans | Male | Neurogenesis | Methyl-CpG-Binding Protein 2 - genetics | Methyl-CpG-Binding Protein 2 - physiology | Nerve Net - metabolism | Gene Duplication - genetics | Cell Differentiation | Induced Pluripotent Stem Cells | Epigenetic inheritance | Medical colleges | Nervous system diseases | Analysis | Stem cells | Health aspects | Protein binding | Care and treatment | Research | Risk factors | Genetic disorders | Gene mutations | Development and progression | Genetic aspects | Diagnosis | Neurological research | Index Medicus | MeCP2 | duplication syndrome | drug screening | disease modeling | epigenetic drugs | multi-electrode arrays | induced pluripotent stem cells | HDAC inhibitors | NCH-51
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5. Full Text 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort
by Steinman, Kyle J and Spence, Sarah J and Ramocki, Melissa B and Proud, Monica B and Kessler, Sudha K and Marco, Elysa J and Green Snyder, LeeAnne and D'Angelo, Debra and Chen, Qixuan and Chung, Wendy K and Sherr, Elliott H and Simons VIP Consortium and on behalf of the Simons VIP Consortium
American journal of medical genetics. Part A, ISSN 1552-4825, 11/2016, Volume 170, Issue 11, pp. 2943 - 2955
epilepsy | microcephaly | associations, genotype–phenotype | tremor | macrocephaly | hypotonia | 16p11.2 deletion | manifestations, neurogical | 16p11.2 duplication | incoordination | copy number variants, DNA | articulation disorders, developmental | sacral dimple | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Chromosome Duplication | Humans | Middle Aged | Child, Preschool | Genotype | Infant | Male | Electroencephalography | Epilepsy - diagnosis | Young Adult | Phenotype | Adolescent | Chromosomes, Human, Pair 16 | Chromosome Disorders - diagnosis | Adult | Epilepsy - genetics | Female | Child | Chromosome Disorders - genetics | Cohort Studies | Autism | Development and progression | Genetic aspects | Index Medicus
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6. Full Text Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome
by Carvalho, Claudia M. B and Ramocki, Melissa B and Pehlivan, Davut and Franco, Luis M and Gonzaga-Jauregui, Claudia and Fang, Ping and McCall, Alanna and Pivnick, Eniko Karman and Hines-Dowell, Stacy and Seaver, Laurie H and Friehling, Linda and Lee, Sansan and Smith, Rosemarie and Del Gaudio, Daniela and Withers, Marjorie and Liu, Pengfei and Cheung, Sau Wai and Belmont, John W and Zoghbi, Huda Y and Hastings, P.J and Lupski, James R
Nature genetics, ISSN 1061-4036, 11/2011, Volume 43, Issue 11, pp. 1074 - 1081
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Diverse techniques | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Phenotype | Gene Rearrangement | Humans | Repetitive Sequences, Nucleic Acid | Polymorphism, Single Nucleotide | Genome, Human | Methyl-CpG-Binding Protein 2 - genetics | Studies | Haplotypes | Genotype & phenotype | Genetics | Genomes | Genomics | Index Medicus
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7. Full Text Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
by Carvalho, Claudia M.B and Zhang, Feng and Liu, Pengfei and Patel, Ankita and Sahoo, Trilochan and Bacino, Carlos A and Shaw, Chad and Peacock, Sandra and Pursley, Amber and Tavyev, Y. Jane and Ramocki, Melissa B and Nawara, Magdalena and Obersztyn, Ewa and Vianna-Morgante, Angela M and Stankiewicz, Pawel and Zoghbi, Huda Y and Cheung, Sau Wai and Lupski, James R
Human molecular genetics, ISSN 0964-6906, 6/2009, Volume 18, Issue 12, pp. 2188 - 2203
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Gene Duplication | Humans | Templates, Genetic | Male | Methyl-CpG-Binding Protein 2 - genetics | DNA Repair | Gene Rearrangement | DNA Breaks | Female | Genetic Diseases, X-Linked - genetics | Transcription, Genetic | Inverted Repeat Sequences | Cohort Studies | Index Medicus
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8. Full Text The MECP2 duplication syndrome
by Ramocki, Melissa B and Tavyev, Y. Jane and Peters, Sarika U
American journal of medical genetics. Part A, ISSN 1552-4825, 05/2010, Volume 152A, Issue 5, pp. 1079 - 1088
MECP2 | epilepsy | mental retardation | recurrent infections | IRAK1 | Xq28 | FLNA | autism | Autism | Epilepsy | Recurrent infections | Mental retardation | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autistic Disorder - genetics | Gene Duplication | Abnormalities, Multiple - diagnosis | Humans | Abnormalities, Multiple - epidemiology | Abnormalities, Multiple - genetics | Methyl-CpG-Binding Protein 2 - genetics | Syndrome | Index Medicus
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