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RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38428-2
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- Publication type:
- Article
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.
- Published in:
- PLoS ONE, 2018, v. 13, n. 7, p. 1, doi. 10.1371/journal.pone.0200446
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- Publication type:
- Article
Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report.
- Published in:
- Acta Myologica, 2022, v. 41, n. 2, p. 95, doi. 10.36185/2532-1900-073
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- Publication type:
- Article
BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age.
- Published in:
- Acta Myologica, 2021, v. 40, n. 4, p. 177, doi. 10.36185/2532-1900-061
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- Publication type:
- Article
Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies.
- Published in:
- Acta Myologica, 2019, v. 38, n. 2, p. 33
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- Publication type:
- Article
Novel mutations in LMNA A/C gene and associated phenotypes.
- Published in:
- Acta Myologica, 2015, v. 34, n. 2/3, p. 116
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- Publication type:
- Article
Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene.
- Published in:
- Acta Myologica, 2015, v. 34, n. 1, p. 9
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- Publication type:
- Article
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
- Published in:
- 2022
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- Publication type:
- journal article
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
- Published in:
- 2022
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- Publication type:
- journal article
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
- Published in:
- 2021
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- Publication type:
- journal article
An extremely severe phenotype attributed to WDR81 nonsense mutations.
- Published in:
- 2017
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- Publication type:
- letter
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 11, p. 9241, doi. 10.3390/ijms24119241
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- Publication type:
- Article
Streptozotocin-Induced Type 1 and 2 Diabetes Mellitus Mouse Models Show Different Functional, Cellular and Molecular Patterns of Diabetic Cardiomyopathy.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 2, p. 1132, doi. 10.3390/ijms24021132
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- Publication type:
- Article
Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 1, p. 86, doi. 10.3390/ijms21010086
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- Publication type:
- Article
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report.
- Published in:
- 2020
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- Publication type:
- journal article
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.
- Published in:
- Acta Neuropathologica, 2021, v. 142, n. 2, p. 375, doi. 10.1007/s00401-021-02319-x
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- Publication type:
- Article
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7‐related disorder.
- Published in:
- Birth Defects Research, 2020, v. 112, n. 14, p. 1085, doi. 10.1002/bdr2.1711
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- Publication type:
- Article
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
- Published in:
- Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/s40478-014-0100-3
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- Publication type:
- Article
Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV Nephropathies.
- Published in:
- Genes, 2023, v. 14, n. 3, p. 764, doi. 10.3390/genes14030764
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- Publication type:
- Article
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 214, doi. 10.3390/genes14010214
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- Publication type:
- Article
VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage.
- Published in:
- Genes, 2021, v. 12, n. 12, p. 1979, doi. 10.3390/genes12121979
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- Publication type:
- Article
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement.
- Published in:
- Genes, 2021, v. 12, n. 2, p. 133, doi. 10.3390/genes12020133
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- Publication type:
- Article
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
- Published in:
- Genes, 2019, v. 10, n. 8, p. 580, doi. 10.3390/genes10080580
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- Publication type:
- Article
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1234, doi. 10.1038/ejhg.2012.71
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- Publication type:
- Article
Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature.
- Published in:
- Hormone Research in Paediatrics, 2016, v. 86, n. 5, p. 330, doi. 10.1159/000452219
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- Publication type:
- Article
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.
- Published in:
- Genes, 2018, v. 9, n. 11, p. 524, doi. 10.3390/genes9110524
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- Publication type:
- Article
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 102, doi. 10.1002/ajmg.c.31973
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- Publication type:
- Article
A novel in‐frame deletion in MYOT causes an early adult onset distal myopathy.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 6, p. 705, doi. 10.1111/cge.14413
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- Publication type:
- Article
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI‐anchored proteins.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 5, p. 607, doi. 10.1111/cge.14033
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- Publication type:
- Article
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 10, p. 5057, doi. 10.1007/s00415-023-11816-w
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- Publication type:
- Article
Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063536
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- Publication type:
- Article
Enhancer Chip: Detecting Human Copy Number Variations in Regulatory Elements.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052264
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- Publication type:
- Article
AP1S2‐truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency.
- Published in:
- 2019
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- Publication type:
- Case Study
Genotype–phenotype spectrum and correlations in Xia‐Gibbs syndrome: Report of five novel cases and literature review.
- Published in:
- Birth Defects Research, 2022, v. 114, n. 13, p. 759, doi. 10.1002/bdr2.2058
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- Publication type:
- Article
Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay.
- Published in:
- Frontiers in Pharmacology, 2020, v. 11, p. N.PAG, doi. 10.3389/fphar.2020.599191
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- Publication type:
- Article
Therapeutic homology-independent targeted integration in retina and liver.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-29550-8
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- Publication type:
- Article
Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation.
- Published in:
- Skeletal Muscle, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13395-019-0199-9
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- Publication type:
- Article
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.
- Published in:
- PLoS ONE, 2020, v. 15, n. 8, p. 1, doi. 10.1371/journal.pone.0237803
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- Publication type:
- Article
A new family with transportinopathy: increased clinical heterogeneity.
- Published in:
- Therapeutic Advances in Neurological Disorders, 2019, p. N.PAG, doi. 10.1177/1756286419850433
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- Publication type:
- Article
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development.
- Published in:
- Frontiers in Neuroscience, 2020, v. 14, p. 1, doi. 10.3389/fnins.2020.00644
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- Publication type:
- Article
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.
- Published in:
- Journal of Nephrology (JNonline), 2021, v. 34, n. 6, p. 1855, doi. 10.1007/s40620-021-01048-4
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- Publication type:
- Article
In vitro CSC-derived cardiomyocytes exhibit the typical microRNA-mRNA blueprint of endogenous cardiomyocytes.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02677-y
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- Publication type:
- Article
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Cavitating and tigroid‐like leukoencephalopathy in a case of NDUFA2‐related disorder.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 11, doi. 10.1002/jmd2.12094
- By:
- Publication type:
- Article
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-24636-1
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- Publication type:
- Article
Urine concentrating defect as presenting sign of progressive renal failure in Bardet–Biedl syndrome patients.
- Published in:
- Clinical Kidney Journal, 2021, v. 14, n. 6, p. 1545, doi. 10.1093/ckj/sfaa182
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- Publication type:
- Article
Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders.
- Published in:
- Clinical Chemistry, 2011, v. 57, n. 11, p. 1584, doi. 10.1373/clinchem.2011.168898
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- Publication type:
- Article
Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in italian patients with hypertrophic cardiomyopathy.
- Published in:
- Journal of Cellular Physiology, 2011, v. 226, n. 11, p. 2894, doi. 10.1002/jcp.22636
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- Publication type:
- Article
Mutation update for the ACTN2 gene.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1745, doi. 10.1002/humu.24470
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- Publication type:
- Article
Cover, Volume 41, Issue 10.
- Published in:
- Human Mutation, 2020, v. 41, n. 10, p. i, doi. 10.1002/humu.24115
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- Publication type:
- Article