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POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 2, p. 1071, doi. 10.1007/s10072-021-05462-1
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- Publication type:
- Article
Recognizable facial features in patients with alternating hemiplegia of childhood.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2698, doi. 10.1002/ajmg.a.37808
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- Publication type:
- Article
Clinical, genetic, and molecular aspects of split-hand/foot malformation: An update.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2860, doi. 10.1002/ajmg.a.36239
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- Article
Encomium: Giovanni Neri-Polyhedral and down-to-earth mentor.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2687, doi. 10.1002/ajmg.a.36261
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- Publication type:
- Article
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
- Published in:
- Nature Genetics, 2012, v. 44, n. 9, p. 1030, doi. 10.1038/ng.2358
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- Publication type:
- Article
Identification of new candidate genes for spina bifida through exome sequencing.
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- Child's Nervous System, 2021, v. 37, n. 8, p. 2589, doi. 10.1007/s00381-021-05153-4
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- Article
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects.
- Published in:
- 2016
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- Publication type:
- Erratum
Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects.
- Published in:
- Child's Nervous System, 2016, v. 32, n. 6, p. 1061, doi. 10.1007/s00381-016-3087-1
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- Publication type:
- Article
Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2009, v. 2, n. 4, p. 232, doi. 10.1002/aur.87
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- Publication type:
- Article
Genotype–Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype Reevaluation after Pangenomic Results.
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- Journal of Clinical Medicine, 2021, v. 10, n. 21, p. 5060, doi. 10.3390/jcm10215060
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- Article
VP103 Health Technology Assessment Of Genetic Tests For Cystic Fibrosis Carrier Screening In Italy.
- Published in:
- 2017
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- Publication type:
- Abstract
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1673, doi. 10.1038/ejhg.2015.52
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- Publication type:
- Article
Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 965, doi. 10.1038/ejhg.2012.280
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- Publication type:
- Article
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.
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- European Journal of Human Genetics, 2013, v. 21, n. 3, p. 310, doi. 10.1038/ejhg.2012.175
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- Publication type:
- Article
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome.
- Published in:
- 2011
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- Publication type:
- Case Study
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.
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- European Journal of Human Genetics, 2004, v. 12, n. 8, p. 682, doi. 10.1038/sj.ejhg.5201198
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- Publication type:
- Article
Clinical implications of the family history in patients with lung cancer: a systematic review of the literature and a new cross-sectional/prospective study design (FAHIC: lung).
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- Journal of Translational Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12967-024-05538-4
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- Publication type:
- Article
PCR and serology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism.
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- Molecular Autism, 2010, v. 1, n. 1, p. 1, doi. 10.1186/2040-2392-1-14
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- Publication type:
- Article
Results of a Gene Panel Approach in a Cohort of Patients with Incomplete Distal Renal Tubular Acidosis and Nephrolithiasis.
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- Kidney & Blood Pressure Research, 2021, v. 46, n. 4, p. 469, doi. 10.1159/000516389
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- Publication type:
- Article
Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study.
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- Biology (2079-7737), 2022, v. 11, n. 11, p. 1565, doi. 10.3390/biology11111565
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- Publication type:
- Article
Functional characterization of tissue-specific enhancers in the DLX5/6 locus.
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- Human Molecular Genetics, 2012, v. 21, n. 22, p. 4930, doi. 10.1093/hmg/dds336
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- Publication type:
- Article
A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing.
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- European Journal of Neurology, 2024, v. 31, n. 1, p. 1, doi. 10.1111/ene.16088
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- Publication type:
- Article
Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families.
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- PLoS ONE, 2022, v. 17, n. 10, p. 1, doi. 10.1371/journal.pone.0275988
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- Publication type:
- Article
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series.
- Published in:
- 2019
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- Publication type:
- journal article
A genomic rearrangement resulting in a tandem duplication is associated with split hand–split foot malformation 3 (SHFM3) at 10q24.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 16, p. 1959, doi. 10.1093/hmg/ddg212
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- Publication type:
- Article
Emerging Microorganisms and Infectious Diseases: One Health Approach for Health Shared Vision.
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- Genes, 2024, v. 15, n. 7, p. 908, doi. 10.3390/genes15070908
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- Publication type:
- Article
Exploring the Role of the MUTYH Gene in Breast, Ovarian and Endometrial Cancer.
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- Genes, 2024, v. 15, n. 5, p. 554, doi. 10.3390/genes15050554
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- Publication type:
- Article
Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?
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- Genes, 2023, v. 14, n. 7, p. 1482, doi. 10.3390/genes14071482
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- Publication type:
- Article
Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability.
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- Genes, 2023, v. 14, n. 7, p. 1353, doi. 10.3390/genes14071353
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- Publication type:
- Article
Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers.
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- Genes, 2023, v. 14, n. 7, p. 1310, doi. 10.3390/genes14071310
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- Publication type:
- Article
Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders.
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- Genes, 2023, v. 14, n. 3, p. 585, doi. 10.3390/genes14030585
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- Publication type:
- Article
RADX Gene Variant May Predispose to Familial Asperger Syndrome.
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- Genes, 2023, v. 14, n. 2, p. 301, doi. 10.3390/genes14020301
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- Publication type:
- Article
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype–Phenotype Correlations.
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- Genes, 2022, v. 13, n. 12, p. 2266, doi. 10.3390/genes13122266
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- Publication type:
- Article
Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders.
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- 2022
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- Publication type:
- Case Study
DNA Methylation in the Diagnosis of Monogenic Diseases.
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- Genes, 2020, v. 11, n. 4, p. 355, doi. 10.3390/genes11040355
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- Publication type:
- Article
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?
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- Frontiers in Neuroscience, 2024, p. 1, doi. 10.3389/fnins.2023.1304080
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- Publication type:
- Article
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC‐7 Mutants.
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- Journal of Bone & Mineral Research, 2021, v. 36, n. 3, p. 531, doi. 10.1002/jbmr.4200
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- Publication type:
- Article
Emerging from the Darkness. Sudden Cardiac Death in Cardiac Amyloidosis.
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- Reviews in Cardiovascular Medicine, 2022, v. 23, n. 10, p. 1, doi. 10.31083/j.rcm2310345
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- Publication type:
- Article
Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schönlein purpura.
- Published in:
- Journal of Nephrology (JNonline), 2018, v. 31, n. 5, p. 731, doi. 10.1007/s40620-018-0482-6
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- Publication type:
- Article