Found: 31
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The Genetic Landscape of Systemic Rheumatic Diseases: A Comprehensive Multigene-Panel Study Identifying Key Gene Polymorphisms.
- Published in:
- Pharmaceuticals (14248247), 2024, v. 17, n. 4, p. 438, doi. 10.3390/ph17040438
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- Publication type:
- Article
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
- Published in:
- 2016
- By:
- Publication type:
- Letter
A Multigene-Panel Study Identifies Single Nucleotide Polymorphisms Associated with Prostate Cancer Risk.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 8, p. 7594, doi. 10.3390/ijms24087594
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- Publication type:
- Article
Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR.
- Published in:
- Prenatal Diagnosis, 2001, v. 21, n. 8, p. 668, doi. 10.1002/pd.112
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- Publication type:
- Article
Next Generation Sequencing for miRNA Detection on the Exhaled Breath Condensate: A Pilot Study.
- Published in:
- Epigenetics Insights, 2023, p. 1, doi. 10.1177/25168657231160985
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- Publication type:
- Article
Next Generation Sequencing for miRNA Detection on the Exhaled Breath Condensate: A Pilot Study.
- Published in:
- Epigenetics Insights, 2023, v. 16, p. 1, doi. 10.1177/25168657231160985
- By:
- Publication type:
- Article
Linkage Analysis in Families with Recurrent Neuroblastoma.
- Published in:
- Annals of the New York Academy of Sciences, 2002, v. 963, n. 1, p. 74, doi. 10.1111/j.1749-6632.2002.tb04097.x
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- Publication type:
- Article
Gene dosage of the spermidine/spermine N<sup>1</sup>-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).
- Published in:
- Human Genetics, 2002, v. 111, n. 3, p. 235, doi. 10.1007/s00439-002-0791-6
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- Publication type:
- Article
Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity.
- Published in:
- Human Genetics, 2002, v. 110, n. 4, p. 351, doi. 10.1007/s00439-002-0701-y
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- Publication type:
- Article
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.
- Published in:
- Human Genetics, 2002, v. 110, n. 2, p. 182, doi. 10.1007/s00439-001-0659-1
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- Publication type:
- Article
Clinical Phenotypes of Parkinson's Disease Associate with Distinct Gut Microbiota and Metabolome Enterotypes.
- Published in:
- Biomolecules (2218-273X), 2021, v. 11, n. 2, p. 144, doi. 10.3390/biom11020144
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- Publication type:
- Article
Weak linkage at 4p16 to predisposition for human neuroblastoma.
- Published in:
- Oncogene, 2002, v. 21, n. 54, p. 8356, doi. 10.1038/sj.onc.1206009
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- Publication type:
- Article
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 613, doi. 10.1038/ejhg.2012.224
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- Publication type:
- Article
A refined physical and transcriptional map of the SPG9 locus on 10q23.3–q24.2.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 10, p. 777, doi. 10.1038/sj.ejhg.5200546
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- Publication type:
- Article
Preserved speech variant is allelic of classic Rett syndrome.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 5, p. 325, doi. 10.1038/sj.ejhg.5200473
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- Publication type:
- Article
A new candidate region for the positional cloning of the XLP gene.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 509, doi. 10.1038/sj.ejhg.5200249
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- Publication type:
- Article
ADA2 deficiency due to a novel structural variation in 22q11.1.
- Published in:
- 2019
- By:
- Publication type:
- Letter to the Editor
Gut microbiota markers associated with obesity and overweight in Italian adults.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-84928-w
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- Publication type:
- Article
Gut microbiota and metabolome distinctive features in Parkinson disease: Focus on levodopa and levodopa‐carbidopa intrajejunal gel.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 4, p. 1198, doi. 10.1111/ene.14644
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- Publication type:
- Article
Circulating Levels of MiRNAs From 320 Family in Subjects With Lipodystrophy: Disclosing Novel Signatures of the Disease.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.866679
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- Publication type:
- Article
Erratum: Novel MC1R variants in ligurian melanoma patients and controls.
- Published in:
- Human Mutation, 2004, v. 24, n. 3, p. 274, doi. 10.1002/humu.9271
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- Publication type:
- Article
Novel MC1R variants in Ligurian melanoma patients and controls.
- Published in:
- Human Mutation, 2004, v. 24, n. 1, p. 103, doi. 10.1002/humu.9253
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- Publication type:
- Article
mRNA-miRNA networks identify metabolic pathways associated to the anti-tumorigenic effect of thyroid hormone on preneoplastic nodules and hepatocellular carcinoma.
- Published in:
- Frontiers in Oncology, 2022, v. 12, p. 1, doi. 10.3389/fonc.2022.941552
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- Publication type:
- Article
Transcriptome organization of white blood cells through gene co-expression network analysis in a large RNA-seq dataset.
- Published in:
- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1350111
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- Publication type:
- Article
Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 18, p. 2682, doi. 10.1093/hmg/ddl199
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- Publication type:
- Article
Association of HLA-A*11:01, -A*24:02, and -B*18:01 with Prostate Cancer Risk: A Case-Control Study.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 20, p. 15398, doi. 10.3390/ijms242015398
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- Publication type:
- Article
Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.
- Published in:
- Human Mutation, 2001, v. 18, n. 1, p. 85, doi. 10.1002/humu.1157
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- Publication type:
- Article
Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.
- Published in:
- Human Mutation, 2001, v. 18, n. 2, p. 164, doi. 10.1002/humu.1169
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- Publication type:
- Article
Gut Microbiota Markers and Dietary Habits Associated with Extreme Longevity in Healthy Sardinian Centenarians.
- Published in:
- Nutrients, 2022, v. 14, n. 12, p. 2436, doi. 10.3390/nu14122436
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- Publication type:
- Article
Impact of a Moderately Hypocaloric Mediterranean Diet on the Gut Microbiota Composition of Italian Obese Patients.
- Published in:
- Nutrients, 2020, v. 12, n. 9, p. 2707, doi. 10.3390/nu12092707
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- Publication type:
- Article
KIR and their HLA Class I ligands: Two more pieces towards completing the puzzle of chronic rejection and graft loss in kidney transplantation.
- Published in:
- 2017
- By:
- Publication type:
- Case Study