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Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.
- Published in:
- Human Genetics, 2007, v. 121, n. 5, p. 539, doi. 10.1007/s00439-007-0343-1
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- Publication type:
- Article
Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 4, p. 207, doi. 10.1038/jhg.2015.1
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- Publication type:
- Article
Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1795, doi. 10.1093/hmg/ddi186
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- Publication type:
- Article
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
- Published in:
- Nature Communications, 2014, v. 5, n. 9, p. 4835, doi. 10.1038/ncomms5835
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- Publication type:
- Article
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 551, doi. 10.1038/ejhg.2014.135
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- Publication type:
- Article
A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 5, p. 644, doi. 10.1038/ejhg.2013.216
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- Publication type:
- Article
Lung proliferation is dependent on the duration not the timepoint of tracheal occlusion in nitrofen rats with diaphragmatic hernia.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 10, p. 1274, doi. 10.1002/pd.6428
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- Publication type:
- Article
A longer tracheal occlusion period results in increased lung growth in the nitrofen rat model.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 1, p. 39, doi. 10.1002/pd.2881
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- Publication type:
- Article
P-058: The dynamics of nucleotide variants in the progression from myeloma precursor conditions to multiple myeloma using targeted sequencing of serial bone marrow samples.
- Published in:
- Clinical Lymphoma, Myeloma & Leukemia, 2021, v. 21, p. S70, doi. 10.1016/S2152-2650(21)02192-3
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- Article
Prognostic Biomarkers in the Progression From MGUS to Multiple Myeloma: A Systematic Review.
- Published in:
- 2018
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- Publication type:
- journal article
A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function.
- Published in:
- EMBO Molecular Medicine, 2015, v. 7, n. 4, p. 423, doi. 10.15252/emmm.201404576
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- Publication type:
- Article
NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 195, doi. 10.1038/ejhg.2012.140
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- Publication type:
- Article
Partial duplications of the ATRX gene cause the ATR-X syndrome.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1094, doi. 10.1038/sj.ejhg.5201878
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- Publication type:
- Article
Duplication of the MYB oncogene in T cell acute lymphoblastic leukemia.
- Published in:
- Nature Genetics, 2007, v. 39, n. 5, p. 593, doi. 10.1038/ng2025
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- Publication type:
- Article
Novel gene fusion discovery in Spitz tumours and its relevance in diagnostics.
- Published in:
- Virchows Archiv: European Journal of Pathology, 2024, v. 485, n. 2, p. 269, doi. 10.1007/s00428-023-03649-9
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- Publication type:
- Article
Whole-genome sequencing reveals progressive versus stable myeloma precursor conditions as two distinct entities.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22140-0
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- Publication type:
- Article
Ubiquitin Ligase HUWE1 Regulates Axon Branching through the Wnt/β-Catenin Pathway in a <i>Drosophila</i> Model for Intellectual Disability.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0081791
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- Publication type:
- Article
Generation and Characterization of an <i>Nxf7</i> Knockout Mouse to Study <i>NXF5</i> Deficiency in a Patient with Intellectual Disability
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0064144
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- Publication type:
- Article
De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.
- Published in:
- Human Genetics, 2014, v. 133, n. 11, p. 1359, doi. 10.1007/s00439-014-1469-6
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- Publication type:
- Article
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.
- Published in:
- Human Genetics, 2013, v. 132, n. 10, p. 1177, doi. 10.1007/s00439-013-1322-3
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- Publication type:
- Article
Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability.
- Published in:
- BMC Medical Genomics, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s12920-018-0446-7
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- Publication type:
- Article
X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 3, doi. 10.1186/1750-1172-9-49
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- Publication type:
- Article
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.
- Published in:
- 2014
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- Publication type:
- journal article
Large-scale analysis of tandem repeat variability in the human genome.
- Published in:
- Nucleic Acids Research, 2014, v. 42, n. 9, p. 5728, doi. 10.1093/nar/gku212
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- Publication type:
- Article
Telomere length homeostasis and telomere position effect on a linear human artificial chromosome are dictated by the genetic background.
- Published in:
- Nucleic Acids Research, 2012, v. 40, n. 22, p. 11477, doi. 10.1093/nar/gks926
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- Publication type:
- Article
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.
- Published in:
- Human Mutation, 2007, v. 28, n. 10, p. 1034, doi. 10.1002/humu.20564
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- Publication type:
- Article
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
- Published in:
- Human Mutation, 2007, v. 28, n. 2, p. 207, doi. 10.1002/humu.9482
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- Publication type:
- Article
Liquid Biopsy in Early-Stage Lung Cancer: Current and Future Clinical Applications.
- Published in:
- Cancers, 2023, v. 15, n. 10, p. 2702, doi. 10.3390/cancers15102702
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- Publication type:
- Article
Diagnostic Validation of a Comprehensive Targeted Panel for Broad Mutational and Biomarker Analysis in Solid Tumors.
- Published in:
- Cancers, 2022, v. 14, n. 10, p. 2457, doi. 10.3390/cancers14102457
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- Publication type:
- Article
The Dynamics of Nucleotide Variants in the Progression from Low–Intermediate Myeloma Precursor Conditions to Multiple Myeloma: Studying Serial Samples with a Targeted Sequencing Approach.
- Published in:
- Cancers, 2022, v. 14, n. 4, p. 1035, doi. 10.3390/cancers14041035
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- Publication type:
- Article
X-linked mental retardation and epigenetics.
- Published in:
- Journal of Cellular & Molecular Medicine, 2006, v. 10, n. 4, p. 808, doi. 10.1111/j.1582-4934.2006.tb00526.x
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- Publication type:
- Article
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.
- Published in:
- Human Mutation, 2016, v. 37, n. 8, p. 804, doi. 10.1002/humu.23012
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- Publication type:
- Article
Early Frameshift Mutation in PIGA Identified in a Large XLID Family Without Neonatal Lethality.
- Published in:
- Human Mutation, 2014, v. 35, n. 3, p. 350, doi. 10.1002/humu.22498
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- Publication type:
- Article
Increased Dosage of RAB39 B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains.
- Published in:
- Human Mutation, 2014, v. 35, n. 3, p. 377, doi. 10.1002/humu.22497
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- Publication type:
- Article
Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1947, doi. 10.1002/ajmg.a.36580
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- Publication type:
- Article
CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 13, p. 1463, doi. 10.1093/hmg/ddg165
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- Publication type:
- Article
Validation and Application of a Custom-Designed Targeted Next-Generation Sequencing Panel for the Diagnostic Mutational Profiling of Solid Tumors.
- Published in:
- PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0154038
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- Publication type:
- Article