isomethyleugenol has been researched along with Deficiency, Mental in 43 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 2 (4.65) | 18.7374 |
| 1990's | 15 (34.88) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 19 (44.19) | 24.3611 |
| 2020's | 7 (16.28) | 2.80 |
| Authors | Studies |
|---|---|
| Angelova, MT; Brazane, M; Carré, C; Da Silva, B; Delatycki, M; Dimitrova, DG; Dudding-Byth, T; Gecz, J; Hassan, BA; Marchand, V; Motorin, Y; Paolantoni, C; Pigeon, J; Piton, A; Plaçais, PY; Préat, T; Roignant, JY; Schaefer, E; Stark, Z; Teysset, L; Ye, T | 1 |
| Alders, M; D'haenens, E; Kerkhof, J; Kumps, C; McConkey, H; Sadikovic, B; Vanakker, OM | 1 |
| Cai, S; Chong, SS; Faradz, SMH; Guan, M; Sihombing, NRB; Winarni, TI; Wong, DPW | 1 |
| Bonefas, KM; Collette, KM; Dou, Y; Garay, PM; Iwase, S; Keegan, CE; Porter, RS; Raines, B; Seo, YA; Tronson, NC; Vallianatos, CN; Wu, MC | 1 |
| Chen, PR; Dong, H; Li, H; Li, J; Liu, RJ; Liu, YP; Long, T; Nie, Y; Wang, ED; Wang, YN; Xu, BS; Zhou, M | 1 |
| Hayashi, T; Kato, Y; Nagai, M; Nakamura, M; Sano, A; Sasaki, N; Tomiyasu, A; Tomiyasu, Y; Ueno, SI; Umehara, H; Yokotsuka-Ishida, S | 1 |
| Lioi, MB; Miano, MG; Padula, A; Poeta, L; van Bokhoven, H | 1 |
| Anderson, PJ; Andrieux, J; Brasch-Andersen, C; Brunner, HG; Chambon, P; Craigen, WJ; de Vries, BBA; Douglas, E; Farach, L; Frengen, E; Friedman, J; Gabriele, M; Gecz, J; Germain, PL; Gilissen, C; Haan, E; Kjaergaard, S; Koolen, DA; Kosaki, K; Kumar, R; Lelieveld, S; Lynch, SA; McLean, SD; Misceo, D; Morton, J; Nicholl, J; Nillesen, WM; Nugent, KM; Patrier, S; Pedurupillay, CRJ; Pfundt, R; Powis, Z; Rauch, A; Rodriguez-Buritica, D; Ronan, A; Rosenfeld, JA; Schaaf, CP; Schuurs-Hoeijmakers, JHM; Shao, Y; Steindl, K; Stray-Pedersen, A; Stromme, P; Takenouchi, T; Testa, G; Thulin, P; Tørring, PM; van Bon, BWM; van Haeringen, A; Vissers, LELM; Vitriolo, A; Vulto-van Silfhout, AT | 1 |
| Shimura, C; Shinkai, Y; Yamada, A | 1 |
| Benevento, M; Dubos, A; Feil, R; Habibi, E; Herault, Y; Iacono, G; Kasri, NN; Kleefstra, T; Mandoli, A; Méziane, H; Riet, F; Selloum, M; Stunnenberg, HG; van Bokhoven, H; Zhou, H | 1 |
| Afenjar, A; Bienvenu, T; Billuart, P; Giurgea, I; Goldenberg, A; Hamroune, J; Lebrun, N; Mietton, L; Saintpierre, B | 1 |
| Birnbaum, R; Gur, H; Kidron, D; Lerman-Sagie, T; Lev, D; Malinger, G; Yanoov-Sharav, M; Yosha-Orpaz, N; Yosovich, K | 1 |
| Barco, A; Scandaglia, M | 1 |
| Bansal, D; Frye, M; Garone, C; Gleeson, JG; Kim, JS; Lee, SY; McCann, BJ; Minczuk, M; Miska, EA; Powell, CA; Rhee, HW; Shin, S; Van Haute, L; Vasiliauskaitė, L | 1 |
| Barco, A; Lopez-Atalaya, JP; Parkel, S | 1 |
| Abuzenadah, A; Al Balwi, M; Al Qahtani, M; Al-Quaiti, M; Bassiouni, R; Chaudhary, AG; Gari, M; Hussein, IR; Lary, S; Sogaty, S | 1 |
| Brookes, E; Carroll, R; Field, M; Gecz, J; Laurent, B; Moeschler, JB; Õunap, K; Schwartz, CE; Shi, Y | 1 |
| Iwase, S; Vallianatos, CN | 1 |
| Cheillan, D; Dessein, AF; Dobbelaere, D; Fontaine, M; Joncquel-Chevalier Curt, M; Mention-Mulliez, K; Porchet, N; Soto-Ares, G; Vamecq, J; Voicu, PM | 1 |
| Agarwal, S; Badeaux, AI; Brookes, E; Chen, C; Egan, B; Gu, L; Ito, H; Iwase, S; Kasza, T; Kwan, KY; Lin, G; Sartor, MA; Shi, Y; Thompson, A; Tomassy, GS; Vallianatos, CN; Xu, J | 1 |
| Ba, W; Benevento, M; Frega, M; Iacono, G; Keller, J; Kleefstra, T; Lewerissa, E; Mancini, R; Nadif Kasri, N; Oudakker, A; Selten, M; Stunnenberg, HG; van Bokhoven, H; Zhou, H | 1 |
| Agarwal, S; Deng, X; Disteche, C; Iwase, S; Wei, G; Xu, J | 1 |
| Greengard, P; Schaefer, A; Tarakhovsky, A | 1 |
| Fischer, A; Stilling, RM | 1 |
| Allis, CD; Cochrane, JC; Ghosh, S; Iwase, S; Lewis, PW; Li, H; Patel, DJ; Picketts, DJ; Ren, T; Shi, Y; Xiang, B | 1 |
| Cambi, F; Haziza, S; Hershkovitz, E; Houtz, R; Magen, S; Magnani, R; Parvari, R | 1 |
| Abrams, MT; Denckla, MB; Freund, L; Greenlaw, R; Reiss, AL | 1 |
| Bakker, PL; de Graaff, E; de Vries, BB; Deelen, WH; Halley, DJ; Niermeijer, MF; Oostra, BA; van den Ouweland, AM; van Hemel, JO | 1 |
| Gahmberg, N; Peippo, M; Salo, A; Salonen, R; von Koskull, H | 1 |
| Der Kaloustian, VM; Robb, LJ; Rouillard, P; Rousseau, F | 1 |
| Bates, G; Lehrach, H | 1 |
| Curfs, PM; de Die-Smulders, CE; de Graaff, E; Engelen, JJ; Fryns, JP; Jongbloed, RJ; Meijer, H; Merckx, DM; Oostra, BA | 1 |
| Barnicoat, A; Campbell, L; Christodoulou, Z; Flannery, AV; Hirst, MC; Knight, SJ; Middleton-Price, HR; Pembrey, ME; Phelps, SR; Pointon, J | 1 |
| Badenas, C; Castellví-Bel, S; Estivill, X; Giné, R; Milà, M; Sánchez, A; Vazquez, C | 1 |
| Hoogeveen, AT; Oostra, BA | 1 |
| Ai, LS; Hsieh, M; Li, C; Lin, CH | 1 |
| Avidano, KM; Driscoll, DJ; Glenn, CC; Nicholls, RD; Waters, MF; Williams, CA; Zori, RT | 1 |
| Heitz, D; Kretz, C; Mandel, JL; Oberlé, I; Petit, C; Vincent, A | 1 |
| Camerino, G; Goodfellow, P | 1 |
| Biancalana, V; Blumenfeld, S; Boué, J; Croquette, MF; DeLozier-Blanchet, C; Heitz, D; Kretz, C; Rousseau, F; Tommerup, N; Van Der Hagen, C | 1 |
| Bell, MV; Flint, TJ; Froster-Iskenius, U; Hirst, MC; Jacobs, PA; MacKinnon, RN; Nakahori, Y; Roche, A; Tommerup, N; Tranebjaerg, L | 1 |
| de Bree, PK; Haverkamp, J; van der Heiden, C; van Gennip, AH; Vliegenthart, JF; Wadman, SK | 1 |
| Connolly, P; Dulaney, JT; Moser, HW; Sugita, M | 1 |
8 review(s) available for isomethyleugenol and Deficiency, Mental
| Article | Year |
|---|---|
Contribution of spurious transcription to intellectual disability disorders.
Topics: Chromatin; Chromatin Assembly and Disassembly; DNA Methylation; Ectopic Gene Expression; Epigenesis, Genetic; Genetic Association Studies; Genetic Predisposition to Disease; Genomic Instability; Histones; Humans; Intellectual Disability; Methylation; Mutation; Neurons; Transcription, Genetic | 2019 |
Histone H3 lysine methylation in cognition and intellectual disability disorders.
Topics: Animals; Cognition Disorders; Epigenesis, Genetic; Histones; Humans; Intellectual Disability; Lysine; Methylation; Protein Processing, Post-Translational | 2013 |
Disrupted intricacy of histone H3K4 methylation in neurodevelopmental disorders.
Topics: Child Development Disorders, Pervasive; Developmental Disabilities; Histone Demethylases; Histone-Lysine N-Methyltransferase; Histones; Humans; Intellectual Disability; Methylation; Mutation; Schizophrenia | 2015 |
Creatine biosynthesis and transport in health and disease.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; AMP-Activated Protein Kinases; Animals; Biological Transport, Active; Brain Diseases, Metabolic, Inborn; Creatine; Developmental Disabilities; Energy Metabolism; Guanidinoacetate N-Methyltransferase; Gyrate Atrophy; Humans; Hyperammonemia; Intellectual Disability; Language Development Disorders; Mental Retardation, X-Linked; Methylation; Mitochondrial Membrane Transport Proteins; Movement Disorders; Mutation; Nerve Tissue Proteins; Ornithine; Plasma Membrane Neurotransmitter Transport Proteins; Prenatal Diagnosis; S-Adenosylmethionine; Speech Disorders; Urea Cycle Disorders, Inborn | 2015 |
Epigenetic mechanisms of mental retardation.
Topics: Acetylation; DNA Methylation; Epigenesis, Genetic; Histones; Humans; Intellectual Disability; Lysine; Methylation; Phosphorylation | 2011 |
Trinucleotide repeat expansions and human genetic disease.
Topics: Adult; Age of Onset; Base Sequence; Child; Embryonic and Fetal Development; Fragile X Syndrome; Genetic Diseases, Inborn; Humans; Huntington Disease; Infant, Newborn; Intellectual Disability; Male; Methylation; Middle Aged; Molecular Sequence Data; Muscular Atrophy, Spinal; Myotonic Dystrophy; Repetitive Sequences, Nucleic Acid; Spermatozoa; Spinocerebellar Degenerations | 1994 |
Animal model for fragile X syndrome.
Topics: Animals; Carrier Proteins; Codon; Cytosine; Disease Models, Animal; Fragile X Mental Retardation Protein; Fragile X Syndrome; Gene Expression Regulation; Guanine; Humans; Intellectual Disability; Methylation; Mice; Mice, Knockout; Mice, Transgenic; Nerve Tissue Proteins; Phenotype; Polymorphism, Genetic; Promoter Regions, Genetic; Protein Biosynthesis; Repetitive Sequences, Nucleic Acid; RNA-Binding Proteins; RNA, Messenger | 1997 |
A fragile understanding.
Topics: 5-Methylcytosine; Brain; Cytosine; Female; Fetal Diseases; Fragile X Syndrome; Gene Expression Regulation; Genetic Carrier Screening; Humans; Intellectual Disability; Male; Meiosis; Methylation; Models, Genetic; Organ Specificity; Prenatal Diagnosis; Repetitive Sequences, Nucleic Acid; X Chromosome | 1991 |
35 other study(ies) available for isomethyleugenol and Deficiency, Mental
| Article | Year |
|---|---|
The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance.
Topics: Humans; Intellectual Disability; Methylation; Methyltransferases; Neurons; Nuclear Proteins; Ribose; RNA, Transfer | 2023 |
Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown-Rahman syndrome.
Topics: Abnormalities, Multiple; Adult; DNA (Cytosine-5-)-Methyltransferases; DNA Methylation; Humans; Intellectual Disability; Methylation | 2023 |
Repeat expansion and methylation-sensitive triplet-primed polymerase chain reaction for fragile X mental retardation 1 gene screening in institutionalised intellectually disabled individuals.
Topics: Fragile X Mental Retardation Protein; Fragile X Syndrome; Humans; Intellectual Disability; Methylation; Mutation; Polymerase Chain Reaction | 2021 |
Mutually suppressive roles of KMT2A and KDM5C in behaviour, neuronal structure, and histone H3K4 methylation.
Topics: Abnormalities, Multiple; Aggression; Animals; Craniofacial Abnormalities; Dendritic Spines; Disease Models, Animal; Growth Disorders; Histone Demethylases; Histone-Lysine N-Methyltransferase; Histones; Hypertrichosis; Intellectual Disability; Male; Mental Retardation, X-Linked; Methylation; Mice; Myeloid-Lymphoid Leukemia Protein | 2020 |
Intellectual disability-associated gene ftsj1 is responsible for 2'-O-methylation of specific tRNAs.
Topics: Codon; Humans; Intellectual Disability; Methylation; Methyltransferases; Nuclear Proteins; RNA, Transfer; tRNA Methyltransferases | 2020 |
Positional cloning and comprehensive mutation analysis identified a novel KDM2B mutation in a Japanese family with minor malformations, intellectual disability, and schizophrenia.
Topics: Cloning, Molecular; DNA Mutational Analysis; Exome; Exome Sequencing; F-Box Proteins; Female; Genetic Linkage; Genetic Predisposition to Disease; Haplotypes; Histone Demethylases; Histones; Humans; Intellectual Disability; Japan; Jumonji Domain-Containing Histone Demethylases; Male; Marfan Syndrome; Methylation; Mutation; Pedigree; Schizophrenia | 2021 |
Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures.
Topics: Animals; Autism Spectrum Disorder; Cell Line, Tumor; DNA-Binding Proteins; Epilepsy; Gene Expression; Gene Expression Regulation; Genes, Homeobox; Genes, X-Linked; Histone Demethylases; Histones; Homeodomain Proteins; Humans; Intellectual Disability; Methylation; Mice; Mutation; Neurodevelopmental Disorders; Transcription Factors; Transcriptome | 2021 |
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Topics: Acetylation; Adolescent; Base Sequence; Child, Preschool; Chromatin; Chromatin Immunoprecipitation; Cohort Studies; Enhancer Elements, Genetic; Female; Gene Ontology; Haploinsufficiency; Haplotypes; Hemizygote; Histones; Humans; Intellectual Disability; Lymphocytes; Male; Methylation; Models, Molecular; Mutation, Missense; Protein Binding; Protein Domains; Transcription, Genetic; YY1 Transcription Factor | 2017 |
Biochemical validation of EHMT1 missense mutations in Kleefstra syndrome.
Topics: Amino Acid Substitution; Animals; Chromosome Deletion; Chromosomes, Human, Pair 9; Craniofacial Abnormalities; Disease Models, Animal; Embryonic Stem Cells; Female; Heart Defects, Congenital; Histocompatibility Antigens; Histone-Lysine N-Methyltransferase; Histones; Humans; Intellectual Disability; Methylation; Mice; Mice, Knockout; Models, Molecular; Mutation, Missense; Protein Binding; Protein Conformation; Protein Multimerization; Structure-Activity Relationship | 2018 |
Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome.
Topics: Animals; Animals, Newborn; Cadherins; Chromosome Deletion; Chromosomes, Human, Pair 9; Cognitive Dysfunction; Craniofacial Abnormalities; Disease Models, Animal; Gene Expression Regulation; Heart Defects, Congenital; Hippocampus; Histone-Lysine N-Methyltransferase; Histones; Intellectual Disability; Lysine; Male; Methylation; Mice, Knockout | 2018 |
RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome.
Topics: Adolescent; Adult; Child; Female; Fibroblasts; Gene Expression Regulation; Histone-Lysine N-Methyltransferase; Histones; Humans; Hypertrichosis; Intellectual Disability; Loss of Function Mutation; Lysine; Male; Methylation; Middle Aged; Myeloid-Lymphoid Leukemia Protein; Nitric Oxide Synthase Type III; Rare Diseases; Sequence Analysis, RNA; Signal Transduction; Syndrome; Transcription, Genetic; Young Adult | 2018 |
Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations.
Topics: Arginine; Astrocytoma; Brachydactyly; Developmental Disabilities; Female; Fetal Growth Retardation; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Methylation; Muscle Hypotonia; Mutation; Orbital Neoplasms; Pregnancy; Protein-Arginine N-Methyltransferases | 2019 |
NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs.
Topics: 5-Methylcytosine; Animals; CRISPR-Cas Systems; Eczema; Facies; Fibroblasts; Gene Editing; Gene Knockout Techniques; Growth Disorders; HEK293 Cells; Humans; Intellectual Disability; Methylation; Methyltransferases; Mice; Mice, Knockout; Microcephaly; Mitochondria; Nucleic Acid Conformation; Oxidative Phosphorylation; Primary Cell Culture; Protein Transport; RNA Processing, Post-Transcriptional; RNA, Messenger; RNA, Mitochondrial; RNA, Transfer | 2019 |
Molecular diagnosis of fragile X syndrome using methylation sensitive techniques in a cohort of patients with intellectual disability.
Topics: Adolescent; Adult; Blotting, Southern; Child; Child, Preschool; Cohort Studies; DNA Mutational Analysis; Family; Female; Fragile X Mental Retardation Protein; Fragile X Syndrome; Humans; Infant; Intellectual Disability; Male; Methylation; Molecular Diagnostic Techniques; Polymerase Chain Reaction; Promoter Regions, Genetic; Trinucleotide Repeats; Young Adult | 2014 |
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.
Topics: Adolescent; Adult; Aged; Child; Chromatin; Enzyme Stability; Female; Genes, X-Linked; Histone Demethylases; Histones; Humans; Infant; Intellectual Disability; Male; Methylation; Mutation; Young Adult | 2015 |
A Mouse Model of X-linked Intellectual Disability Associated with Impaired Removal of Histone Methylation.
Topics: Aggression; Animals; Brain; CpG Islands; Dendritic Spines; Disease Models, Animal; Gene Expression Regulation; Genes, X-Linked; Histone Demethylases; Histones; Intellectual Disability; Lysine; Memory; Methylation; Mice, Knockout; Oxidoreductases, N-Demethylating; Promoter Regions, Genetic; Social Behavior; Transcription, Genetic | 2016 |
Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling.
Topics: Animals; Brain-Derived Neurotrophic Factor; Chromosome Deletion; Chromosomes, Human, Pair 9; Craniofacial Abnormalities; Heart Defects, Congenital; Hippocampus; Histone-Lysine N-Methyltransferase; Histones; Homeostasis; Intellectual Disability; Methylation; Mice, Transgenic; Neuronal Plasticity; Patch-Clamp Techniques; Synapses | 2016 |
Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells.
Topics: Animals; Cell Line, Tumor; Cells, Cultured; Down-Regulation; Female; Histone Demethylases; Histones; Intellectual Disability; Male; Methylation; Mice; Mice, Inbred C57BL; Mutation; Nerve Tissue Proteins; Netrins; Neuronal Outgrowth; Oxidoreductases, N-Demethylating; Protein Processing, Post-Translational | 2016 |
A Drosophila model for the role of epigenetics in brain function and development.
Topics: Animals; Brain; Drosophila; Drosophila Proteins; Epigenesis, Genetic; Epigenomics; Gene Expression Regulation, Developmental; Genome-Wide Association Study; Histocompatibility Antigens; Histone-Lysine N-Methyltransferase; Histones; Humans; Intellectual Disability; Methylation; Models, Animal; Sequence Homology, Amino Acid | 2011 |
ATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndrome.
Topics: Amino Acid Sequence; Binding Sites; DNA Helicases; Heterochromatin; Histones; Humans; Intellectual Disability; Methylation; Models, Molecular; Molecular Sequence Data; Nuclear Proteins; Protein Interaction Mapping; Protein Structure, Tertiary; Sequence Alignment; X-linked Nuclear Protein | 2011 |
Human calmodulin methyltransferase: expression, activity on calmodulin, and Hsp90 dependence.
Topics: Amino Acid Sequence; Animals; Base Sequence; Benzoquinones; Calmodulin; Cell Line; Chromosome Deletion; Chromosomes, Human, Pair 21; Craniofacial Abnormalities; Cystinuria; Green Fluorescent Proteins; HSP90 Heat-Shock Proteins; Humans; Intellectual Disability; Lactams, Macrocyclic; Methylation; Methyltransferases; Mice; Mice, Inbred ICR; Mitochondrial Diseases; Molecular Sequence Data; Muscle Hypotonia; Protein Binding; Protein Stability; Protein Structure, Tertiary; Protein Transport; Proteolysis; Recombinant Fusion Proteins; Subcellular Fractions; Transcription, Genetic | 2012 |
Neurodevelopmental effects of the FMR-1 full mutation in humans.
Topics: Adolescent; Adult; Age Factors; Brain; Child; Child, Preschool; Diseases in Twins; DNA; Female; Fragile X Mental Retardation Protein; Fragile X Syndrome; Humans; Intellectual Disability; Intelligence; Magnetic Resonance Imaging; Male; Matched-Pair Analysis; Methylation; Mutation; Nerve Tissue Proteins; RNA-Binding Proteins; Sex Factors; Twins, Monozygotic | 1995 |
DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene.
Topics: Blotting, Southern; Child, Preschool; Chromosome Aberrations; Cloning, Molecular; Dinucleoside Phosphates; DNA Mutational Analysis; DNA Probes; Female; Fragile X Syndrome; Gene Dosage; Humans; Intellectual Disability; Male; Methylation; Polymerase Chain Reaction; Repetitive Sequences, Nucleic Acid; Suppression, Genetic | 1994 |
FRAXA locus in fragile X diagnosis: family studies, prenatal diagnosis, and diagnosis of sporadic cases of mental retardation.
Topics: Amniocentesis; Chorionic Villi Sampling; Chromosome Fragility; Diagnosis, Differential; Dinucleoside Phosphates; DNA Mutational Analysis; DNA Probes; Female; Fragile X Syndrome; Genetic Carrier Screening; Humans; Intellectual Disability; Male; Methylation; Mosaicism; Predictive Value of Tests; Prenatal Diagnosis; X Chromosome | 1994 |
No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.
Topics: Adult; Child; DNA; Female; Fragile X Mental Retardation Protein; Fragile X Syndrome; Genetic Carrier Screening; Humans; Intellectual Disability; Leukocytes; Male; Methylation; Nerve Tissue Proteins; Pedigree; Phenotype; RNA-Binding Proteins; Spermatozoa | 1994 |
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.
Topics: Alleles; Base Sequence; Child, Preschool; Female; Fragile X Mental Retardation Protein; Fragile X Syndrome; Gene Expression; Genes; Humans; Intellectual Disability; Male; Methylation; Molecular Sequence Data; Nerve Tissue Proteins; Pedigree; Phenotype; Polymerase Chain Reaction; Promoter Regions, Genetic; Repetitive Sequences, Nucleic Acid; RNA-Binding Proteins; Sequence Deletion | 1994 |
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.
Topics: Base Sequence; Fragile X Syndrome; Gene Amplification; Humans; Intellectual Disability; Methylation; Molecular Sequence Data; Pedigree; Repetitive Sequences, Nucleic Acid; X Chromosome | 1993 |
A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion.
Topics: Adult; Atlantic Islands; Chromosome Mapping; Female; Fragile X Mental Retardation Protein; Fragile X Syndrome; Genetic Carrier Screening; Humans; Intellectual Disability; Male; Methylation; Mutation; Nerve Tissue Proteins; Pedigree; Reference Values; RNA-Binding Proteins; Trinucleotide Repeats; X Chromosome | 1996 |
Arginine methylation of a glycine and arginine rich peptide derived from sequences of human FMRP and fibrillarin.
Topics: Amino Acid Sequence; Animals; Arginine; Brain; Chromatography, High Pressure Liquid; Chromosomal Proteins, Non-Histone; Fragile X Mental Retardation Protein; Fragile X Syndrome; Glycine; Histidine; Humans; Intellectual Disability; Methylation; Mutation, Missense; Nerve Tissue Proteins; Peptide Fragments; Rats; RNA-Binding Proteins | 1999 |
A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes.
Topics: Blotting, Southern; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 15; DNA; DNA Probes; Female; Humans; Intellectual Disability; Male; Methylation; Movement Disorders; Parents; Prader-Willi Syndrome; Sex Factors; Syndrome | 1992 |
Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis.
Topics: DNA Probes; Electrophoresis, Agar Gel; Female; Fragile X Syndrome; Humans; Intellectual Disability; Male; Methylation; Polymorphism, Restriction Fragment Length; Restriction Mapping; X Chromosome | 1991 |
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.
Topics: Blotting, Southern; DNA; DNA Probes; Female; Fragile X Syndrome; Genetic Carrier Screening; Heterozygote; Humans; Intellectual Disability; Intelligence; Male; Methylation; Pedigree; Retrospective Studies; X Chromosome | 1991 |
Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome.
Topics: Cell Line; Chromosome Mapping; DNA; Fragile X Syndrome; Genetic Carrier Screening; Genetic Linkage; Humans; Intellectual Disability; Male; Methylation; Restriction Mapping; X Chromosome | 1991 |
Urinary excretion of 3 -methylxanthine and related compounds in children.
Topics: Adolescent; Adult; Cacao; Caffeine; Child; Child, Preschool; Chromatography, Ion Exchange; Chromatography, Paper; Coffee; Diet; Humans; Infant; Intellectual Disability; Mass Spectrometry; Methylation; Neuromuscular Diseases; Spectrophotometry, Ultraviolet; Stereoisomerism; Tea; Theobromine; Theophylline; Xanthines | 1973 |
Fatty acid composition of free ceramides of kidney and cerebellum from a patient with Farber's disease.
Topics: Ceramides; Cerebellum; Child, Preschool; Chromatography; Chromatography, Gas; Chromatography, Thin Layer; Esters; Fatty Acids; Fatty Alcohols; Humans; Hydrogen-Ion Concentration; Hydrolases; Infant, Newborn; Intellectual Disability; Joint Diseases; Kidney; Lipidoses; Male; Methanol; Methylation; Pigmentation Disorders; Respiratory Distress Syndrome, Newborn; Silicon | 1973 |