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Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene.
- Published in:
- 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
The role of PC‐1 and ACE genes in diabetic nephropathy in type 1 diabetic patients: evidence for a polygenic control of kidney disease progression.
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- Nephrology Dialysis Transplantation, 2002, v. 17, n. 8, p. 1402, doi. 10.1093/ndt/17.8.1402
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- Publication type:
- Article
Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11.
- Published in:
- Human Genetics, 2002, v. 111, n. 4/5, p. 401, doi. 10.1007/s00439-002-0785-4
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- Publication type:
- Article
Cytogenetic mapping of a novel locus for type II Waardenburg syndrome.
- Published in:
- Human Genetics, 2002, v. 110, n. 1, p. 64, doi. 10.1007/s00439-001-0643-9
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- Publication type:
- Article
LA SCHEDA DI RILEVAZIONE E IL SOFTWARE PER LA RACCOLTA DEI DATI.
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- Giornale Italiano di Medicina del Lavoro ed Ergonomia, 2022, v. 44, n. 2, p. 125
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- Publication type:
- Article
Il progetto MAREL: la rete di ambulatori specialistici di Medicina del Lavoro per il monitoraggio delle malattie e dei rischi emergenti sul lavoro.
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- Giornale Italiano di Medicina del Lavoro ed Ergonomia, 2016, v. 38, n. 3, p. 253
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- Publication type:
- Article
A cluster of three single nucleotide polymorphisms in the 3'-untranslated region of human glycoprotein PC-1 gene stabilizes PC-1 mRNA and is associated with increased PC-1 protein content and insulin resistance-related abnormalities.
- Published in:
- 2001
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- Publication type:
- journal article
The Q Allele Variant (GLN[sup 121]) of Membrane Glycoprotein PC-1 Interacts With the Insulin...
- Published in:
- Diabetes, 2001, v. 50, n. 4, p. 831, doi. 10.2337/diabetes.50.4.831
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- Publication type:
- Article
Association between the human glycoprotein PC-1 gene and elevated glucose and insulin levels in a paired-sibling analysis.
- Published in:
- 2000
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- Publication type:
- journal article
The K121Q variant of the human PC-1 gene is not associated with insulin resistance or type 2 diabetes among Danish Caucasians.
- Published in:
- 2000
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- Publication type:
- journal article
A PC-1 amino acid variant (K121Q) is associated with faster progression of renal disease in patients with type 1 diabetes and albuminuria.
- Published in:
- 2000
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- Publication type:
- journal article
Brief genetics report: A polymorphism (K121Q) of the human glycoprotein PC-1 gene coding region is strongly associated with insulin resistance.
- Published in:
- Diabetes, 1999, v. 48, n. 9, p. 1881, doi. 10.2337/diabetes.48.9.1881
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- Publication type:
- Article
Neonatal Marfan Syndrome by Inherited Mutation.
- Published in:
- 2021
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- Publication type:
- Letter
Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion.
- Published in:
- Neurogenetics, 2011, v. 12, n. 3, p. 233, doi. 10.1007/s10048-011-0278-5
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- Publication type:
- Article
Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.
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- Molecular Neurobiology, 2022, v. 59, n. 8, p. 4825, doi. 10.1007/s12035-022-02886-4
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- Publication type:
- Article
Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study.
- Published in:
- 2017
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- Publication type:
- journal article
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00646
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- Publication type:
- Article
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region.
- Published in:
- 2023
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- Publication type:
- Case Study
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1069, doi. 10.1038/sj.ejhg.5201290
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- Publication type:
- Article
DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 4, p. 349, doi. 10.1038/sj.ejhg.5200956
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- Publication type:
- Article
Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families.
- Published in:
- 1996
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- Publication type:
- journal article
Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease.
- Published in:
- Neurodegenerative Diseases, 2019, v. 19, n. 2, p. 96, doi. 10.1159/000502906
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- Publication type:
- Article
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
- Published in:
- Nature Genetics, 2015, v. 47, n. 6, p. 661, doi. 10.1038/ng.3282
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- Publication type:
- Article
Leiomyosarcoma of the Larynx: Case Report with Pathologic and Surgical Considerations.
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- Journal of Otolaryngology, 2002, v. 31, n. 6, p. 393, doi. 10.2310/7070.2002.34465
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- Publication type:
- Article
A novel c.952T>C mutation in Notch3 gene in a patient with chronic non‐migraine‐like headache: Expanding the genotypic spectrum of CADASIL?
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 82, doi. 10.1111/cge.14137
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- Publication type:
- Article
Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.
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- Journal of Neurology, 2019, v. 266, n. 11, p. 2657, doi. 10.1007/s00415-019-09466-y
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- Publication type:
- Article
PARP inhibitors affect growth, survival and radiation susceptibility of human alveolar and embryonal rhabdomyosarcoma cell lines.
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- Journal of Cancer Research & Clinical Oncology, 2019, v. 145, n. 1, p. 137, doi. 10.1007/s00432-018-2774-6
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- Publication type:
- Article
Identification of a novel RUNX2 gene mutation and early diagnosis of CCD in a cleidocranial dysplasia suspected Iranian family.
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- Clinical Case Reports, 2020, v. 8, n. 12, p. 2333, doi. 10.1002/ccr3.2825
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- Publication type:
- Article
An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene.
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- Clinical Case Reports, 2020, v. 8, n. 8, p. 1445, doi. 10.1002/ccr3.2881
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- Publication type:
- Article
A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome.
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- Diagnostics (2075-4418), 2022, v. 12, n. 11, p. 2684, doi. 10.3390/diagnostics12112684
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- Publication type:
- Article
Genomic Breakpoints' Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer.
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- Diagnostics (2075-4418), 2022, v. 12, n. 7, p. N.PAG, doi. 10.3390/diagnostics12071520
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- Publication type:
- Article
Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis.
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- Diagnostics (2075-4418), 2022, v. 12, n. 6, p. 1328, doi. 10.3390/diagnostics12061328
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- Publication type:
- Article
Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis.
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- Diagnostics (2075-4418), 2022, v. 12, n. 3, p. 575, doi. 10.3390/diagnostics12030575
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- Publication type:
- Article
Cystic Fibrosis Newborn Screening in Austria Using PAP and the Numeric Product of PAP and IRT Concentrations as Second-Tier Parameters.
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- Diagnostics (2075-4418), 2021, v. 11, n. 2, p. 299, doi. 10.3390/diagnostics11020299
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- Publication type:
- Article
Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives—A Systematic Review.
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- Diagnostics (2075-4418), 2021, v. 11, n. 2, p. 224, doi. 10.3390/diagnostics11020224
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- Publication type:
- Article
TLR4 T399I Polymorphism and Endometriosis in a Cohort of Italian Women.
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- Diagnostics (2075-4418), 2020, v. 10, n. 5, p. 255, doi. 10.3390/diagnostics10050255
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- Publication type:
- Article
Brain Derived Neurotrophic Factor (BDNF) Expression Is Regulated by MicroRNAs miR-26a and miR-26b Allele-Specific Binding.
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- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0028656
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- Publication type:
- Article
Synergistic Post-Transcriptional Regulation of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) by miR-101 and miR-494 Specific Binding.
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- PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0026601
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- Publication type:
- Article
Additional lesions identified by genomic microarrays are associated with an inferior outcome in low‐risk chronic lymphocytic leukaemia patients.
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- British Journal of Haematology, 2023, v. 202, n. 5, p. 953, doi. 10.1111/bjh.18946
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- Publication type:
- Article
The Q121 PC-1 Variant and Obesity Have Additive and Independent Effects in Causing Insulin Resistance.
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- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 12, p. 5888, doi. 10.1210/jcem.86.12.8108
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- Publication type:
- Article
Pregnant women's knowledge and behaviour to prevent cytomegalovirus infection: an observational study.
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- Journal of Perinatal Medicine, 2021, v. 49, n. 3, p. 327, doi. 10.1515/jpm-2020-0301
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- Publication type:
- Article
An observational study to assess Italian obstetrics providers' knowledge about preventive practices and diagnosis of congenital cytomegalovirus.
- Published in:
- Journal of Perinatal Medicine, 2021, v. 49, n. 1, p. 67, doi. 10.1515/jpm-2020-0224
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- Publication type:
- Article
Altered Expression of Candidate Genes in Mayer–Rokitansky–Küster–Hauser Syndrome May Influence Vaginal Keratinocytes Biology: A Focus on Protein Kinase X.
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- Biology (2079-7737), 2021, v. 10, n. 6, p. 450, doi. 10.3390/biology10060450
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- Publication type:
- Article
From Nuremberg to bioethics: an educational project for students of dentistry and dental prosthesis.
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- Annals of Stomatology / Annali di Stomatologia, 2013, v. 4, n. 1, p. 138
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- Publication type:
- Article
HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing.
- Published in:
- Journal of Biomedical Science, 2012, v. 19, n. 1, p. 88, doi. 10.1186/1423-0127-19-88
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- Publication type:
- Article
Hyperechogenic fetal bowel: Current evidence‐based prenatal diagnosis and management.
- Published in:
- Journal of Clinical Ultrasound, 2023, v. 51, n. 7, p. 1172, doi. 10.1002/jcu.23528
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- Publication type:
- Article
Echocardiographic features and outcome of restrictive foramen ovale in fetuses with and without cardiac malformations: Literature review.
- Published in:
- Journal of Clinical Ultrasound, 2023, v. 51, n. 2, p. 240, doi. 10.1002/jcu.23304
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- Publication type:
- Article
Fetal dacryocystocele: A pitfall in the third‐trimester prenatal diagnosis of cleft lip.
- Published in:
- Journal of Clinical Ultrasound, 2021, v. 49, n. 7, p. 777, doi. 10.1002/jcu.23023
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- Publication type:
- Article
Fetal tongue posture associated with micrognathia: An ultrasound marker of cleft secondary palate?
- Published in:
- 2020
- By:
- Publication type:
- case study