Found: 69
Select item for more details and to access through your institution.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
- Published in:
- 2022
- By:
- Publication type:
- journal article
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
- Published in:
- 2022
- By:
- Publication type:
- journal article
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
- Published in:
- 2021
- By:
- Publication type:
- journal article
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
- By:
- 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
- By:
- 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
- By:
- 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
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63713
- By:
- Publication type:
- Article
Patients with DeSanto–Shinawi syndrome: Further extension of phenotype from Italy.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 823, doi. 10.1002/ajmg.a.63061
- By:
- Publication type:
- Article
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10‐related disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3032, doi. 10.1002/ajmg.a.62911
- By:
- Publication type:
- Article
Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1661, doi. 10.1002/ajmg.a.62710
- By:
- Publication type:
- Article
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3784, doi. 10.1002/ajmg.a.62447
- By:
- Publication type:
- Article
Congenital posterior cervical spine malformation due to biallelic c.240‐4T>G RIPPLY2 variant: A discrete entity.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1466, doi. 10.1002/ajmg.a.61549
- By:
- Publication type:
- Article
Expansion of the phenotype of lateral meningocele syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1259, doi. 10.1002/ajmg.a.61536
- By:
- Publication type:
- Article
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu‐boycott‐Innes syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2835, doi. 10.1002/ajmg.a.40534
- By:
- Publication type:
- Article
<italic>UBE2A</italic> deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 722, doi. 10.1002/ajmg.a.38589
- By:
- Publication type:
- Article
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 426, doi. 10.1002/ajmg.a.38560
- By:
- Publication type:
- Article
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2743, doi. 10.1002/ajmg.a.38367
- By:
- 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
- By:
- Publication type:
- journal 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
- By:
- 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
- By:
- Publication type:
- Article
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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Incomplete penetrance in limb-girdle muscular dystrophy type 1F.
- Published in:
- 2015
- By:
- Publication type:
- Letter
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
- By:
- 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
- By:
- Publication type:
- 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
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
- Published in:
- JAMA Neurology, 2018, v. 75, n. 5, p. 557, doi. 10.1001/jamaneurol.2017.4899
- By:
- 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
- By:
- Publication type:
- Article
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.
- Published in:
- BMC Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12863-015-0177-0
- By:
- 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
- By:
- Publication type:
- Article
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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
An extremely severe phenotype attributed to WDR81 nonsense mutations.
- Published in:
- 2017
- By:
- Publication type:
- Letter
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
- By:
- Publication type:
- Article
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.682
- By:
- Publication type:
- Article
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 13, p. 2250, doi. 10.1093/hmg/ddaa112
- By:
- Publication type:
- Article