Found: 49
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Juvenile stroke in combined syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis.
- Published in:
- 2014
- By:
- Publication type:
- Letter
A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy.
- Published in:
- EMBO Molecular Medicine, 2015, v. 7, n. 7, p. 918, doi. 10.15252/emmm.201404803
- By:
- Publication type:
- Article
Exome analysis of HIV patients submitted to dendritic cells therapeutic vaccine reveals an association of CNOT1 gene with response to the treatment.
- Published in:
- Journal of the International AIDS Society, 2014, v. 17, p. 1, doi. 10.7448/IAS.17.1.18938
- By:
- Publication type:
- Article
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-66
- By:
- Publication type:
- Article
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.
- Published in:
- 2016
- By:
- Publication type:
- commentary
Notch Signaling Regulation in Autoinflammatory Diseases.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 22, p. 8847, doi. 10.3390/ijms21228847
- By:
- Publication type:
- Article
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 6, p. 1, doi. 10.1002/mgg3.1926
- By:
- Publication type:
- Article
A rare loss-of-function genetic mutation suggest a role of dermcidin deficiency in hidradenitis suppurativa pathogenesis.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.1060547
- By:
- Publication type:
- Article
High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO).
- Published in:
- Pediatric Rheumatology, 2020, v. 18, n. 1, p. 1, doi. 10.1186/s12969-020-00447-4
- By:
- Publication type:
- Article
Could the MED13 mutations manifest as a Kabuki‐like syndrome?
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 584, doi. 10.1002/ajmg.a.61994
- By:
- Publication type:
- Article
Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 461, doi. 10.1002/ajmg.a.34398
- By:
- Publication type:
- Article
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 12, p. 1256, doi. 10.1038/ng.1004
- By:
- Publication type:
- Article
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.
- Published in:
- Nature Genetics, 2011, v. 43, n. 3, p. 259, doi. 10.1038/ng.761
- By:
- Publication type:
- Article
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.
- Published in:
- Nature Genetics, 2009, v. 41, n. 6, p. 654, doi. 10.1038/ng.378
- By:
- Publication type:
- Article
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
- Published in:
- Nature Genetics, 2006, v. 38, n. 5, p. 570, doi. 10.1038/ng1765
- By:
- Publication type:
- Article
Genetic Variation in Taste Sensitivity to 6-n-Propylthiouracil and Its Relationship to Taste Perception and Food Selection.
- Published in:
- Annals of the New York Academy of Sciences, 2009, v. 1170, p. 126, doi. 10.1111/j.1749-6632.2009.03916.x
- By:
- Publication type:
- Article
Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11).
- Published in:
- 2006
- By:
- Publication type:
- journal article
Impact of Methylmercury and Other Heavy Metals Exposure on Neurocognitive Function in Children Aged 7 Years: Study Protocol of the Follow-up.
- Published in:
- Journal of Epidemiology, 2021, v. 31, n. 2, p. 157, doi. 10.2188/jea.JE20190284
- By:
- Publication type:
- Article
Plant Antimicrobial Peptides as Potential Tool for Topic Treatment of Hidradenitis Suppurativa.
- Published in:
- Frontiers in Microbiology, 2021, v. 12, p. 1, doi. 10.3389/fmicb.2021.795217
- By:
- Publication type:
- Article
New Tools for Congenital Hyperinsulinism.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Association Analysis of Bitter Receptor Genes in Five Isolated Populations Identifies a Significant Correlation between <i>TAS2R43</i> Variants and Coffee Liking.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0092065
- By:
- Publication type:
- Article
Incidence of Congenital Clubfoot: Preliminary Data from Italian CeDAP Registry.
- Published in:
- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 9, p. 5406, doi. 10.3390/ijerph19095406
- By:
- Publication type:
- Article
Metabonomics and population studies: age-related amino acids excretion and inferring networks through the study of urine samples in two Italian isolated populations.
- Published in:
- Amino Acids, 2010, v. 38, n. 1, p. 65, doi. 10.1007/s00726-008-0205-8
- By:
- Publication type:
- Article
A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family.
- Published in:
- Human Genetics, 2003, v. 112, n. 3, p. 319, doi. 10.1007/s00439-002-0880-6
- By:
- Publication type:
- Article
Identification of a New Mutation in RSK2 , the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 8, p. 1105, doi. 10.3390/brainsci11081105
- By:
- Publication type:
- Article
Heterogeneity in Circulating Tumor Cells: The Relevance of the Stem-Cell Subset.
- Published in:
- Cancers, 2019, v. 11, n. 4, p. 483, doi. 10.3390/cancers11040483
- By:
- Publication type:
- Article
Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 593, doi. 10.1038/ejhg.2010.240
- By:
- Publication type:
- Article
Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?
- Published in:
- 2009
- By:
- Publication type:
- Letter
A second locus mapping to 2q35-36 for familial pseudohyperkalaemia.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1073, doi. 10.1038/sj.ejhg.5201280
- By:
- Publication type:
- Article
Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 8, p. 585, doi. 10.1038/sj.ejhg.5201009
- By:
- Publication type:
- Article
A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 121, doi. 10.1038/sj.ejhg.5200929
- By:
- Publication type:
- Article
Systematic analysis of factors that improve homologous direct repair (HDR) efficiency in CRISPR/Cas9 technique.
- Published in:
- PLoS ONE, 2021, v. 16, n. 3, p. 1, doi. 10.1371/journal.pone.0247603
- By:
- Publication type:
- Article
Genomic instability in congenital lung malformations in children.
- Published in:
- Pediatric Surgery International, 2024, v. 40, n. 1, p. 1, doi. 10.1007/s00383-024-05835-5
- By:
- Publication type:
- Article
A loss‐of‐function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa.
- Published in:
- Experimental Dermatology, 2023, v. 32, n. 11, p. 1935, doi. 10.1111/exd.14919
- By:
- Publication type:
- Article
Whole-Genome Methylation Study of Congenital Lung Malformations in Children.
- Published in:
- Frontiers in Oncology, 2021, v. 11, p. 1, doi. 10.3389/fonc.2021.689833
- By:
- Publication type:
- Article
Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity.
- Published in:
- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1192690
- By:
- Publication type:
- Article
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 335, doi. 10.1093/brain/awt343
- By:
- Publication type:
- Article
Genetic landscape of populations along the Silk Road: admixture and migration patterns.
- Published in:
- BMC Genetics, 2014, v. 15, n. 1, p. 70, doi. 10.1186/s12863-014-0131-6
- By:
- Publication type:
- Article
Genetic determinants for methotrexate response in juvenile idiopathic arthritis.
- Published in:
- Frontiers in Pharmacology, 2015, v. 6, p. 1, doi. 10.3389/fphar.2015.00052
- By:
- Publication type:
- Article
32 Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0120-0
- By:
- Publication type:
- Article
Genomic profiling by whole-genome single nucleotide polymorphism arrays in Wilms tumor and association with relapse.
- Published in:
- Genes, Chromosomes & Cancer, 2012, v. 51, n. 7, p. 644, doi. 10.1002/gcc.21951
- By:
- Publication type:
- Article
MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Dysregulation of Aquaporin-3 and Glyceryl Glucoside Restoring Action in Hidradenitis Suppurativa in Vitro Models.
- Published in:
- Cellular Physiology & Biochemistry (Cell Physiol Biochem Press GmbH & Co. KG), 2024, v. 58, n. 4, p. 404, doi. 10.33594/000000720
- By:
- Publication type:
- Article
Genome‐wide association studies of response and side effects to the BNT162b2 vaccine in Italian healthcare workers: Increased antibody levels and side effects in carriers of the HLA‐A*03:01 allele.
- Published in:
- HLA: Immune Response Genetics, 2023, v. 102, n. 6, p. 707, doi. 10.1111/tan.15157
- By:
- Publication type:
- Article
Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological.
- Published in:
- British Journal of Haematology, 2012, v. 157, n. 3, p. 384, doi. 10.1111/j.1365-2141.2011.08981.x
- By:
- Publication type:
- Article
Unraveling the Epigenetic Tapestry: Decoding the Impact of Epigenetic Modifications in Hidradenitis Suppurativa Pathogenesis.
- Published in:
- Genes, 2024, v. 15, n. 1, p. 38, doi. 10.3390/genes15010038
- By:
- Publication type:
- Article
Variation in the Bitter-taste Receptor Gene TAS2R38, and Adiposity in a Genetically Isolated Population in Southern Italy.
- Published in:
- Obesity (19307381), 2008, v. 16, n. 10, p. 2289, doi. 10.1038/oby.2008.357
- By:
- Publication type:
- Article