Found: 66
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Balanced translocations in mental retardation.
- Published in:
- Human Genetics, 2009, v. 126, n. 1, p. 133, doi. 10.1007/s00439-009-0661-6
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- Publication type:
- Article
Towards Kinase Inhibitor Therapies for Fragile X Syndrome: Tweaking Twists in the Autism Spectrum Kinase Signaling Network.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 8, p. 1325, doi. 10.3390/cells11081325
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- Publication type:
- Article
High-throughput screening identifies histone deacetylase inhibitors that modulate GTF2I expression in 7q11.23 microduplication autism spectrum disorder patient-derived cortical neurons.
- Published in:
- Molecular Autism, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13229-020-00387-6
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- Publication type:
- Article
2‐Aroyl quinazolinone: Synthesis and in vitro anti‐parasitic activity.
- Published in:
- Chemical Biology & Drug Design, 2023, v. 102, n. 4, p. 763, doi. 10.1111/cbdd.14284
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- Publication type:
- Article
6‐Nitro‐1‐benzylquinolones exhibiting specific antitubercular activity.
- Published in:
- Chemical Biology & Drug Design, 2020, v. 96, n. 6, p. 1387, doi. 10.1111/cbdd.13747
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- Publication type:
- Article
The Use of Bio-Guided Fractionation to Explore the Use of Leftover Biomass in Dutch Flower Bulb Production as Allelochemicals against Weeds.
- Published in:
- Molecules, 2013, v. 18, n. 4, p. 4510, doi. 10.3390/molecules18044510
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- Publication type:
- Article
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 4, p. 1106, doi. 10.1093/hmg/ddu523
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- Publication type:
- Article
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2590, doi. 10.1093/hmg/ddt107
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- Publication type:
- Article
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 10, p. 1960, doi. 10.1093/hmg/ddt043
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- Publication type:
- Article
The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings.
- Published in:
- 2017
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- Publication type:
- Case Study
Gaps in Current Autism Research: The Thoughts of the Autism Research Editorial Board and Associate Editors.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2019, v. 12, n. 5, p. 700, doi. 10.1002/aur.2101
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- Publication type:
- Article
Haploinsufficiency of CMIP in a Girl With Autism Spectrum Disorder and Developmental Delay due to a De Novo Deletion on Chromosome 16q23.2.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2012, v. 5, n. 4, p. 277, doi. 10.1002/aur.1240
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- Publication type:
- Article
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 803, doi. 10.1038/ejhg.2014.173
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- Publication type:
- Article
Craniofacial characteristics of fragile X syndrome in mouse and man.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 816, doi. 10.1038/ejhg.2012.265
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- Publication type:
- Article
Reduced serum levels of pro-inflammatory chemokines in fragile X syndrome.
- Published in:
- 2020
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- Publication type:
- journal article
CNV-WebStore: Online CNV Analysis, Storage and Interpretation.
- Published in:
- BMC Bioinformatics, 2011, v. 12, n. 1, p. 1, doi. 10.1186/1471-2105-12-4
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- Publication type:
- Article
A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation.
- Published in:
- 2005
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- Publication type:
- Letter
Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-65608-x
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- Publication type:
- Article
Expanding the Phenotype of B3GALNT2-Related Disorders.
- Published in:
- Genes, 2022, v. 13, n. 4, p. 694, doi. 10.3390/genes13040694
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- Publication type:
- Article
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 395, doi. 10.1038/sj.ejhg.5201975
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- Publication type:
- Article
TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 10, p. 1090, doi. 10.1038/sj.ejhg.5201674
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- Publication type:
- Article
Brain studies of mouse models for neurogenetic disorders using in vivo magnetic resonance imaging (MRI).
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 3, p. 153, doi. 10.1038/sj.ejhg.5200606
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- Publication type:
- Article
Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 526, doi. 10.1038/sj.ejhg.5200348
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- Publication type:
- Article
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
- Published in:
- Nature Genetics, 2006, v. 38, n. 9, p. 999, doi. 10.1038/ng1853
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- Publication type:
- Article
FRA2A Is a CGG Repeat Expansion Associated with Silencing of <i>AFF3</i>.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 4, p. 1, doi. 10.1371/journal.pgen.1004242
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- Publication type:
- Article
The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 3, p. 315, doi. 10.1002/ajmg.c.31413
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- Publication type:
- Article
Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 8, p. 1049, doi. 10.1002/ajmg.b.32473
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- Publication type:
- Article
In vitro and ex vivo experimental models for evaluation of intranasal systemic drug delivery as well as direct nose‐to‐brain drug delivery.
- Published in:
- Biopharmaceutics & Drug Disposition, 2023, v. 44, n. 1, p. 94, doi. 10.1002/bdd.2348
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- Publication type:
- Article
Influence of Drought and Heat Stress on Mineral Content, Antioxidant Activity and Bioactive Compound Accumulation in Four African Amaranthus Species.
- Published in:
- Plants (2223-7747), 2023, v. 12, n. 4, p. 953, doi. 10.3390/plants12040953
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- Publication type:
- Article
ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel–Van der Aa syndrome autopsy case.
- Published in:
- Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01743-w
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- Publication type:
- Article
Single-Cell and Neuronal Network Alterations in an In Vitro Model of Fragile X Syndrome.
- Published in:
- Cerebral Cortex, 2020, v. 30, n. 1, p. 31, doi. 10.1093/cercor/bhz068
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- Publication type:
- Article
Synthesis of the Antimycobacterial Naphthoquinone, 7-Methyljuglone and its Dimer, Neodiospyrin.
- Published in:
- South African Journal of Chemistry, 2006, v. 59, p. 60
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- Publication type:
- Article
Unravelling the link between neurodevelopmental disorders and short tandem CGG-repeat expansions.
- Published in:
- Emerging Topics in Life Sciences, 2023, v. 7, n. 3, p. 265, doi. 10.1042/ETLS20230021
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- Publication type:
- Article
De novo mutations, genetic mosaicism and human disease.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.983668
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- Publication type:
- Article
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.
- Published in:
- Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-019-0804-0
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- Publication type:
- Article
Vineland Adaptive Behavior Scale in a Cohort of Four ADNP Syndrome Patients Implicates Age-Dependent Developmental Delays with Increased Impact of Activities of Daily Living.
- Published in:
- Journal of Molecular Neuroscience, 2022, v. 72, n. 8, p. 1531, doi. 10.1007/s12031-022-02048-0
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- Publication type:
- Article
Renewable energy from Cyanobacteria: energy production optimization by metabolic pathway engineering.
- Published in:
- Applied Microbiology & Biotechnology, 2011, v. 91, n. 3, p. 471, doi. 10.1007/s00253-011-3394-0
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- Publication type:
- Article
Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82050-5
- By:
- Publication type:
- Article
VariantDB: A flexible annotation and filtering portal for next generation sequencing data.
- Published in:
- Genome Medicine, 2014, v. 6, n. 10, p. 1, doi. 10.1186/s13073-014-0074-6
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- Publication type:
- Article
Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 343, doi. 10.1002/ajmg.a.33810
- By:
- Publication type:
- Article
TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.
- Published in:
- BMC Medical Genetics, 2004, v. 5, p. 22, doi. 10.1186/1471-2350-5-22
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- Publication type:
- Article
Subtelomeric imbalances in phenotypically normal individuals.
- Published in:
- Human Mutation, 2007, v. 28, n. 10, p. 958, doi. 10.1002/humu.20537
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- Publication type:
- Article
Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardation.
- Published in:
- Human Mutation, 2007, v. 28, n. 2, p. 177, doi. 10.1002/humu.20421
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- Publication type:
- Article
Subtelomeric rearrangements in the mentally retarded: A comparison of detection methods.
- Published in:
- Human Mutation, 2005, v. 25, n. 6, p. 513, doi. 10.1002/humu.20185
- By:
- Publication type:
- Article
Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA) (Communicated by Ulf Landegren).
- Published in:
- Human Mutation, 2004, v. 23, n. 1, p. 17, doi. 10.1002/humu.10300
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- Publication type:
- Article
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: Is there a need for routine screening?
- Published in:
- Human Mutation, 2002, v. 20, n. 4, p. 249, doi. 10.1002/humu.10130
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- Publication type:
- Article
Erratum to: The Compassionate Side of Neuroscience: Tony Sermone's Undiagnosed Genetic Journey-ADNP Mutation.
- Published in:
- 2016
- By:
- Publication type:
- Erratum
The Compassionate Side of Neuroscience: Tony Sermone's Undiagnosed Genetic Journey-ADNP Mutation.
- Published in:
- 2015
- By:
- Publication type:
- Editorial
GABA neurotransmitter signaling in the developing mouse lens: Dynamic regulation of components and functionality.
- Published in:
- Developmental Dynamics, 2008, v. 237, n. 12, p. 3830, doi. 10.1002/dvdy.21768
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- Publication type:
- Article
Geographical and seasonal phytochemical variation of Artemisia afra Jacq. ex Willd.
- Published in:
- Phytochemical Analysis, 2023, v. 34, n. 2, p. 175, doi. 10.1002/pca.3191
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- Publication type:
- Article