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Array-based comparative genomic hybridization in early-stage mycosis fungoides: Recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF.
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- Genes, Chromosomes & Cancer, 2008, v. 47, n. 12, p. 1067, doi. 10.1002/gcc.20601
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- Article
A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients.
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- Genes, Chromosomes & Cancer, 2007, v. 46, n. 5, p. 470, doi. 10.1002/gcc.20429
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- Article
Olfactory dysfunction in Parkinsonism caused by PINK1 mutations.
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- Movement Disorders, 2009, v. 24, n. 16, p. 2350, doi. 10.1002/mds.22816
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- Article
Mutation screening of the DYT6/ THAP1 gene in Italy.
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- Movement Disorders, 2009, v. 24, n. 16, p. 2424, doi. 10.1002/mds.22861
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- Article
GIGYF2 variants are not associated with Parkinson's disease in Italy.
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- Movement Disorders, 2009, v. 24, n. 12, p. 1867, doi. 10.1002/mds.22640
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- Article
Late onset sporadic Parkinson's disease caused by PINK1 mutations: Clinical and functional study.
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- Movement Disorders, 2008, v. 23, n. 6, p. 881, doi. 10.1002/mds.21960
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- Article
Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements.
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- 2007
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- Publication type:
- journal article
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.
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- Movement Disorders, 2007, v. 22, n. 2, p. 162, doi. 10.1002/mds.21182
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- Article
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia.
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- Movement Disorders, 2006, v. 21, n. 10, p. 1782, doi. 10.1002/mds.21056
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- Article
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism.
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- 2006
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- Publication type:
- journal article
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease.
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- Movement Disorders, 2006, v. 21, n. 8, p. 1232, doi. 10.1002/mds.20890
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- Article
A novel family with an unusual early-onset generalized dystonia.
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- Movement Disorders, 2005, v. 20, n. 1, p. 81, doi. 10.1002/mds.20267
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- Article
Analysis of the ϵ-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity.
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- Movement Disorders, 2003, v. 18, n. 9, p. 1047, doi. 10.1002/mds.10476
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- Publication type:
- Article
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene.
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- Movement Disorders, 2003, v. 18, n. 2, p. 207, doi. 10.1002/mds.10314
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- Publication type:
- Article
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia.
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- Movement Disorders, 2002, v. 17, n. 2, p. 392, doi. 10.1002/mds.10077
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- Publication type:
- Article
Reference ranges of HOMA-IR in normal-weight and obese young Caucasians.
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- Acta Diabetologica, 2016, v. 53, n. 2, p. 251, doi. 10.1007/s00592-015-0782-4
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- Publication type:
- Article
Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11.
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- Human Genetics, 2002, v. 111, n. 4/5, p. 401, doi. 10.1007/s00439-002-0785-4
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- Publication type:
- Article
The Multidimensional Prognostic Index (MPI), Based on a Comprehensive Geriatric Assessment Predicts Short- and Long-Term Mortality in Hospitalized Older Patients with Dementia.
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- Journal of Alzheimer's Disease, 2009, v. 18, n. 1, p. 191, doi. 10.3233/JAD-2009-1139
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- Article
Case Report: Precision COVID-19 Immunization Strategy to Overcome Individual Fragility: A Case of Generalized Lipodystrophy Type 4.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.869042
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- Publication type:
- Article
Ext-mutation analysis in Italian sporadic and hereditary osteochondromas.
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- International Journal of Cancer, 2001, v. 95, n. 6, p. 378, doi. 10.1002/1097-0215(20011120)95:6<378::AID-IJC1067>3.0.CO;2-F
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- Publication type:
- Article
“Omic” investigations of protozoa and worms for a deeper understanding of the human gut “parasitome”.
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- PLoS Neglected Tropical Diseases, 2017, v. 11, n. 11, p. 1, doi. 10.1371/journal.pntd.0005916
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- Article
Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother.
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- Cardiology in the Young, 2013, v. 23, n. 1, p. 14, doi. 10.1017/S1047951112000194
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- Article
Gut microbiota signatures in cystic fibrosis: Loss of host CFTR function drives the microbiota enterophenotype.
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- PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0208171
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- Publication type:
- Article
Genetically Determined Interaction between the Dopamine Transporter and the D<sub>2</sub> Receptor on Prefronto-Striatal Activity and Volume in Humans.
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- Journal of Neuroscience, 2009, v. 29, n. 4, p. 1224, doi. 10.1523/JNEUROSCI.4858-08.2009
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- Publication type:
- Article
Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson’s disease by disturbing calcium flux.
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- Journal of Neurochemistry, 2009, v. 108, n. 6, p. 1561, doi. 10.1111/j.1471-4159.2009.05932.x
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- Publication type:
- Article
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.
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- Neurogenetics, 2013, v. 14, n. 3/4, p. 247, doi. 10.1007/s10048-013-0371-z
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- Publication type:
- Article
Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion.
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- Neurogenetics, 2011, v. 12, n. 3, p. 233, doi. 10.1007/s10048-011-0278-5
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- Publication type:
- Article
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.
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- Neurogenetics, 2011, v. 12, n. 3, p. 241, doi. 10.1007/s10048-011-0283-8
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- Publication type:
- Article
A Novel Mutation (R271X) in the Myotubularin Gene Causes a Severe Miotubular Myopathy.
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- Human Heredity, 1999, v. 49, n. 1, p. 59, doi. 10.1159/000022843
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- Article
Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders.
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- JAMA Network Open, 2024, v. 7, n. 1, p. e2353514, doi. 10.1001/jamanetworkopen.2023.53514
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- Article
Monitoring Perinatal Gut Microbiota in Mouse Models by Mass Spectrometry Approaches: Parental Genetic Background and Breastfeeding Effects.
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- Frontiers in Microbiology, 2016, p. 1, doi. 10.3389/fmicb.2016.01523
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- Article
Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
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- 2008
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- Correction notice
Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
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- Journal of Human Genetics, 2007, v. 52, n. 12, p. 1011, doi. 10.1007/s10038-007-0208-4
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- Publication type:
- Article
A single-nucleotide polymorphism in the human bone morphogenetic protein-4 (BMP 4) gene.
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- Journal of Human Genetics, 1999, v. 44, n. 1, p. 76, doi. 10.1007/s100380050113
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- Article
Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.
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- Human Molecular Genetics, 2010, v. 19, n. 5, p. 790, doi. 10.1093/hmg/ddp548
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- Article
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.
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- Human Molecular Genetics, 2005, v. 14, n. 22, p. 3477, doi. 10.1093/hmg/ddi377
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- Article
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1068, doi. 10.1038/ejhg.2014.243
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- Article
Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage?
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 563, doi. 10.1038/ejhg.2014.151
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- Article
Clinical utility gene card for: Joubert Syndrome - update 2013.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1, doi. 10.1038/ejhg.2013.10
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- Article
Increased Activity of Glutathione S-Transferase and Fast Decay of Reduced Glutathione in Fanconi's Anemia Erythrocytes.
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- Acta Haematologica, 1984, v. 71, n. 2, p. 143, doi. 10.1159/000206575
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- Article
A Functional Variant of the Adipocyte Glycerol Channel Aquaporin 7 Gene Is Associated With Obesity and Related Metabolic Abnormalities.
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- Diabetes, 2007, v. 56, n. 5, p. 1468, doi. 10.2337/db06-1389
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- Article
The functional Q84R polymorphism of mammalian Tribbles homolog TRB3 is associated with insulin resistance and related cardiovascular risk in Caucasians from Italy.
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- 2005
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- Publication type:
- journal article
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 12900, doi. 10.3390/ijms232112900
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- Publication type:
- Article
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).
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- International Journal of Molecular Sciences, 2021, v. 22, n. 3, p. 1190, doi. 10.3390/ijms22031190
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- Article
Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 2, p. 750, doi. 10.3390/ijms22020750
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- Publication type:
- Article
Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 6, p. 1459, doi. 10.3390/ijms20061459
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- Article
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 1, p. 82, doi. 10.3390/ijms19010082
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- Publication type:
- Article
Meta-Omic Platforms to Assist in the Understanding of NAFLD Gut Microbiota Alterations: Tools and Applications.
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- International Journal of Molecular Sciences, 2014, v. 15, n. 1, p. 684, doi. 10.3390/ijms15010684
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- Article
Microarray analysis identifies a common set of cellular genes modulated by different HCV replicon clones.
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- BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-309
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- Publication type:
- Article
Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment.
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- Archives of Public Health, 2023, v. 81, n. 1, p. 1, doi. 10.1186/s13690-023-01112-4
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- Publication type:
- Article