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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, ISSN 0028-0836, 10/2008, Volume 455, Issue 7215, pp. 912 - 918
Failure of normal brain development leads to mental retardation or autism in about 3% of children. Many genes integral to pathways by which synaptic... 
MESSENGER-RNAS | SMITH-MAGENIS-SYNDROME | GENE COPY-NUMBER | RETT-SYNDROME | SEVERE MENTAL-RETARDATION | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | FRAGILE-X-SYNDROME | EXPRESSIVE-LANGUAGE DELAY | WILLIAMS-BEUREN-SYNDROME | DELETION SYNDROME | 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
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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
We investigated 67 breakpoint junctions of gene copy number gains in 31 unrelated subjects. We observed a strikingly high frequency of small deletions and... 
HUMAN MUTATION | INSTABILITY | GENOMIC REARRANGEMENTS | COMPLEX REARRANGEMENTS | DNA | SLIPPAGE | COPY NUMBER | INVERTED REPEATS | GENETICS & HEREDITY | STRUCTURAL VARIATION | BREAK-INDUCED REPLICATION | 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 | MECP2 | triplication | CNVs | complex rearrangements | MMBIR | FoSTeS | duplication
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3. Full Text A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
by Zufferey, Flore and Sherr, Elliott H and Beckmann, Noam D and Hanson, Ellen and Maillard, Anne M and Hippolyte, Loyse and Macé, Aurélien and Ferrari, Carina and Kutalik, Zoltán and Andrieux, Joris and Aylward, Elizabeth and Barker, Mandy and Bernier, Raphael and Bouquillon, Sonia and Conus, Philippe and Delobel, Bruno and Faucett, W Andrew and Goin-Kochel, Robin P and Grant, Ellen and Harewood, Louise and Hunter, Jill V and Lebon, Sébastien and Ledbetter, David H and Martin, Christa Lese and Männik, Katrin and Martinet, Danielle and Mukherjee, Pratik and Ramocki, Melissa B and Spence, Sarah J and Steinman, Kyle J and Tjernagel, Jennifer and Spiro, John E and Reymond, Alexandre and Beckmann, Jacques S and Chung, Wendy K and Jacquemont, Sébastien and Simons VIP Consortium and 16P11-2 European Consortium and 16p11.2 European Consortium and on behalf of the Simons VIP Consortium and on behalf of the 16p11.2 European Consortium
Journal of Medical Genetics, ISSN 0022-2593, 10/2012, Volume 49, Issue 10, pp. 660 - 668
Background The recurrent ∼600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related... 
MICRODELETION | INDIVIDUALS | DE-NOVO | OBESITY | AUTISM | GENETICS & HEREDITY | PHENOTYPES | SPECTRUM | REARRANGEMENTS | ASSOCIATION | COPY-NUMBER VARIATION | Body Mass Index | Chromosome Deletion | Humans | Male | Developmental Disabilities - genetics | Intelligence Tests | Syndrome | Young Adult | Phenotype | Child Development Disorders, Pervasive - genetics | Adolescent | Child Development Disorders, Pervasive - diagnosis | Chromosomes, Human, Pair 16 | Adult | Female | Heterozygote | Child | Developmental Disabilities - diagnosis | Gene Order | Life Sciences | Obesity | Clinical genetics | 1506 | Psychiatry | Complex traits | Copy-Number Variation
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4. 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
In this review, we detail the history, molecular diagnosis, epidemiology, and clinical features of the MECP2 duplication syndrome, including considerations for... 
MECP2 | epilepsy | mental retardation | recurrent infections | IRAK1 | Xq28 | FLNA | autism | Autism | Epilepsy | Recurrent infections | Mental retardation | RETT-SYNDROME | SEVERE MENTAL-RETARDATION | CLINICAL VARIABILITY | REARRANGEMENTS | CODING SEQUENCE | GENE | COPY-NUMBER | GENETICS & HEREDITY | MUTATIONS | STRUCTURAL VARIATION | FILAMIN-A | Autistic Disorder - genetics | Gene Duplication | Abnormalities, Multiple - diagnosis | Humans | Abnormalities, Multiple - epidemiology | Abnormalities, Multiple - genetics | Methyl-CpG-Binding Protein 2 - genetics | Syndrome
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5. Failure of neuronal homeostasis results in common neuropsychiatric phenotypes
by Ramocki, Melissa B and Zoghbi, Huda Y
Nature, ISSN 0028-0836, 10/2008, Volume 455, Issue 7215, pp. 912 - 918
Failure of normal brain development leads to mental retardation or autism in about 3% of children. Many genes integral to pathways by which synaptic... 
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6. 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
Chromosome 16p11.2 deletions and duplications are among the most frequent genetic etiologies of autism spectrum disorder (ASD) and other neurodevelopmental... 
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 | MICRODELETION | FREQUENT | AUTISM | BEHAVIOR | ANGELMAN-SYNDROME | SYMPTOMS | MECP2 | MICRODUPLICATION | GENETICS & HEREDITY | COMMON | associations, genotype-phenotype | SHANK3 | 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
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7. 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
Increased dosage of methyl-CpG-binding protein-2 (MeCP2) results in a dramatic neurodevelopmental phenotype with onset at birth. We generated induced... 
RETT-SYNDROME | PSYCHIATRY | BIOCHEMISTRY & MOLECULAR BIOLOGY | MATURATION | NEUROSCIENCES | PLURIPOTENT STEM-CELLS | DENDRITIC SPINES | OVEREXPRESSION | BINDING PROTEIN MECP2 | MOUSE MODEL | MICE | EXPRESSION | BRAIN | 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 | Nervous system diseases | Care and treatment | Stem cells | Research | Risk factors | Protein binding | MeCP2 | duplication syndrome | drug screening | disease modeling | epigenetic drugs | multi-electrode arrays | induced pluripotent stem cells | HDAC inhibitors | NCH-51
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8. Full Text Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome
by Ramocki, Melissa B and Peters, Sarika U and Tavyev, Y. Jane and Zhang, Feng and Carvalho, Claudia M. B and Schaaf, Christian P and Richman, Ronald and Fang, Ping and Glaze, Daniel G and Lupski, James R and Zoghbi, Huda Y
Annals of Neurology, ISSN 0364-5134, 12/2009, Volume 66, Issue 6, pp. 771 - 782
Objective There have been no objective assessments to determine whether boys with MECP2 duplication have autism or whether female carriers manifest phenotypes.... 
LINKED MENTAL-RETARDATION | RETT-SYNDROME | GENE | RECURRENT INFECTIONS | XQ28 | COPY NUMBER | TRANSCRIPTION | DISORDER | PHENOTYPE | MALES | NEUROSCIENCES | CLINICAL NEUROLOGY | Autistic Disorder - genetics | Gene Duplication | Genetic Predisposition to Disease | Autistic Disorder - physiopathology | Interleukin-1 Receptor-Associated Kinases - genetics | X Chromosome Inactivation - genetics | Autistic Disorder - metabolism | Humans | RNA, Messenger - genetics | Methyl-CpG-Binding Protein 2 - metabolism | Child, Preschool | Family Health | Male | Sex Characteristics | Methyl-CpG-Binding Protein 2 - genetics | Intellectual Disability - genetics | Intellectual Disability - metabolism | Chromosomes, Human, X | Intellectual Disability - physiopathology | Neuropsychological Tests | Adolescent | Female | Child
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9. 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
We identified complex genomic rearrangements consisting of intermixed duplications and triplications of genomic segments at the MECP2 and PLP1 loci. These... 
MECP2 DUPLICATION SYNDROME | X-CHROMOSOME | MENTAL-RETARDATION | MECHANISM | GENETICS & HEREDITY | PELIZAEUS-MERZBACHER-DISEASE | MUTATIONS | INVERSION | GENE COPY NUMBER | INTRACHROMOSOMAL TRIPLICATIONS | BREAK-INDUCED REPLICATION | 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
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10. Full Text Erratum: MECP2 duplications in six patients with complex sex chromosome rearrangements
by Breman, Amy M and Ramocki, Melissa B and Kang, Sung-Hae L and Williams, Misti and Freedenberg, Debra and Patel, Ankita and Bader, Patricia I and Cheung, Sau Wai
European Journal of Human Genetics, ISSN 1018-4813, 10/2011, Volume 19, Issue 10, pp. 1110 - 1110
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11. Full Text Clinical phenotype of the recurrent 1q21.1 copy-number variant
by Bernier, Raphael and Steinman, Kyle J and Reilly, Beau and Wallace, Arianne Stevens and Sherr, Elliott H and Pojman, Nicholas and Mefford, Heather C and Gerdts, Jennifer and Earl, Rachel and Hanson, Ellen and Goin-Kochel, Robin P and Berry, Leandra and Kanne, Stephen and Snyder, Leeanne Green and Spence, Sarah and Ramocki, Melissa B and Evans, David W and Spiro, John E and Martin, Christa L and Ledbetter, David H and Chung, Wendy K and Alupay, H and Aaronson, B and Ackerman, S and Ankenmann, K and Atwell, C and Aylward, E and Beaudet, A and Benedetti, M and Berman, J and Bernier, R and Bibb, A and Blaskey, L and Brewton, C and Buckner, R and Bukshpun, P and Burko, J and Cerban, B and Chen, Q and Cheong, M and Chu, Z and Dale, C and Dempsey, A and Elgin, J and Olson, J and Evans, Y and Faucett, W.A and Fischbach, G and Garza, S and Gerdts, J and Gobuty, S and Goin-Kochel, R and Grant, P.E and Snyder, L. Green and Greenup, M and Hanson, E and Hines, K and Hinkley, L and Hunter, J and Jeremy, R and Johnson, K and Kanne, S and Kessler, S and Khan, S and Laakman, A and Lasala, M and Ledbetter, D and Lee, H and Martin, C. Lese and Cavanagh, A. Lian and Llorens, A and Luks, T and Marco, E and Martin, A and Marzano, G and McGovern, K and Keehn, R. McNally and Miller, D and Miller, F and Moss, T and Mukherjee, P and Nagarajan, S and Nowell, K and Owen, J and Paal, A and Packer, A and Page, P and Paul, B and Pojman, N and Proud, M and Qasmieh, S and Ramocki, M and Reilly, Beau and Roberts, T and Shaw, D and Sherr, E and Sinha, T and Smith-Packard, B and Snow, A and Spence, S and ... and Simons VIP Consortium and Simons VIP consortium and on behalf of the Simons VIP consortium
Genetics in Medicine, ISSN 1098-3600, 04/2016, Volume 18, Issue 4, pp. 341 - 349
Purpose: To characterize the clinical phenotype of the recurrent copy-number variation (CNV) at 1q21.1, we assessed the psychiatric and medical phenotypes of... 
1q21.1 duplication | 1q21.1 deletion | autism spectrum disorder | developmental disability | copy-number variation | AUTISM | SIZE | SCHIZOPHRENIA | DISORDERS | GENETICS & HEREDITY | SPECTRUM | ASSOCIATION | HEAD CIRCUMFERENCE | Chromosome Deletion | Chromosome Duplication | Humans | Middle Aged | Child, Preschool | Male | DNA Copy Number Variations | Neuropsychological Tests | Young Adult | Phenotype | Chromosomes, Human, Pair 1 | Chromosome Disorders - diagnosis | Adult | Female | Registries | Child | Chromosome Disorders - genetics
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12. 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
Duplication at the Xq28 band including the MECP2 gene is one of the most common genomic rearrangements identified in neurodevelopmentally delayed males. Such... 
SERIAL REPLICATION SLIPPAGE | GENE COPY-NUMBER | SEVERE MENTAL-RETARDATION | RECURRENT INFECTIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | PELIZAEUS-MERZBACHER-DISEASE | CLINICAL VARIABILITY | COMPARATIVE GENOMIC HYBRIDIZATION | STRUCTURAL FEATURES | BREAK-INDUCED REPLICATION | HUMAN COLOR-VISION | 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
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