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Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome.
- Published in:
- Human Genetics, 2005, v. 118, n. 3/4, p. 508, doi. 10.1007/s00439-005-0075-z
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- Publication type:
- Article
Regional strain pattern and correlation with cardiac magnetic resonance imaging in fabry disease.
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- Journal of Cardiovascular Echography, 2021, v. 31, n. 3, p. 131, doi. 10.4103/jcecho.jcecho_119_20
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- Publication type:
- Article
Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia.
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- Journal of Genetic Counseling, 2015, v. 24, n. 5, p. 842, doi. 10.1007/s10897-015-9819-7
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- Publication type:
- Article
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome.
- Published in:
- 2019
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- Publication type:
- journal article
Lipid-enriched diet rescues lethality and slows down progression in a murine model of VCP-associated disease.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 5, p. 1333, doi. 10.1093/hmg/ddt523
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- Publication type:
- Article
Activation of the NLRP3 Inflammasome Is Associated with Valosin-Containing Protein Myopathy.
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- Inflammation, 2017, v. 40, n. 1, p. 21, doi. 10.1007/s10753-016-0449-5
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- Publication type:
- Article
Clinical Trials in Prader–Willi Syndrome: A Review.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2150, doi. 10.3390/ijms24032150
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- Article
Genetics of Obesity in Humans: A Clinical Review.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11005, doi. 10.3390/ijms231911005
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- Publication type:
- Article
The beauty and complexity of the small heat shock proteins: a report on the proceedings of the fourth workshop on small heat shock proteins.
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- Cell Stress & Chaperones, 2023, v. 28, n. 6, p. 621, doi. 10.1007/s12192-023-01360-x
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- Publication type:
- Article
Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1.
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- Genes, 2023, v. 14, n. 3, p. 676, doi. 10.3390/genes14030676
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- Publication type:
- Article
Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis.
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- Genes, 2022, v. 13, n. 6, p. 963, doi. 10.3390/genes13060963
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- Publication type:
- Article
Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome.
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- Genes, 2020, v. 11, n. 11, p. 1250, doi. 10.3390/genes11111250
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- Publication type:
- Article
Early Diagnosis in Prader–Willi Syndrome Reduces Obesity and Associated Co-Morbidities.
- Published in:
- Genes, 2019, v. 10, n. 11, p. 898, doi. 10.3390/genes10110898
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- Publication type:
- Article
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 9, p. 943, doi. 10.1038/sj.ejhg.5201859
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- Publication type:
- Article
Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.
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- European Journal of Human Genetics, 2003, v. 11, n. 7, p. 527, doi. 10.1038/sj.ejhg.5200995
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- Publication type:
- Article
A Mutation in the V1 End Domain of Keratin 1 in Non-Epidermolytic Palmar-Plantar Keratoderma.
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- Journal of Investigative Dermatology, 1994, v. 103, n. 6, p. 764, doi. 10.1111/1523-1747.ep12412771
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- Publication type:
- Article
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.
- Published in:
- Nature Genetics, 2012, v. 44, n. 12, p. 1360, doi. 10.1038/ng.2463
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- Publication type:
- Article
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.
- Published in:
- Nature Genetics, 2004, v. 36, n. 4, p. 377, doi. 10.1038/ng1332
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- Publication type:
- Article
Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD).
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- PLoS Genetics, 2009, v. 5, n. 7, p. 1, doi. 10.1371/journal.pgen.1000559
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- Publication type:
- Article
Is gestation in Prader-Willi syndrome affected by the genetic subtype?
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- Journal of Assisted Reproduction & Genetics, 2009, v. 26, n. 8, p. 461, doi. 10.1007/s10815-009-9341-7
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- Publication type:
- Article
What Syndrome Is This?
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- Pediatric Dermatology, 2007, v. 24, n. 3, p. 306, doi. 10.1111/j.1525-1470.2007.00408.x
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- Publication type:
- Article
Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader‐Willi syndrome: A multicenter study.
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- Clinical Genetics, 2021, v. 100, n. 1, p. 29, doi. 10.1111/cge.13947
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- Publication type:
- Article
Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome.
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- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 5/6, p. 511, doi. 10.1515/jpem-2013-0180
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- Publication type:
- Article
Apert syndrome: what prenatal radiographic findings should prompt its consideration?
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- Prenatal Diagnosis, 2006, v. 26, n. 10, p. 966, doi. 10.1002/pd.1539
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- Publication type:
- Article
Recurrent miscarriage in a carrier of a balanced cytogenetically undetectable subtelomeric rearrangement: How many are we missing?
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- Prenatal Diagnosis, 2006, v. 26, n. 3, p. 291, doi. 10.1002/pd.1387
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- Publication type:
- Article
Radiological features of Paget disease of bone associated with VCP myopathy.
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- Skeletal Radiology, 2012, v. 41, n. 3, p. 329, doi. 10.1007/s00256-011-1193-4
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- Publication type:
- Article
Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy.
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- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 5, p. 686, doi. 10.1002/acn3.51760
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- Publication type:
- Article
Exercise Training Reverses Skeletal Muscle Atrophy in an Experimental Model of VCP Disease.
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- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0076187
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- Publication type:
- Article
The Homozygote VCPR<sup>155H/R155H</sup> Mouse Model Exhibits Accelerated Human VCP-Associated Disease Pathology.
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- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0046308
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- Publication type:
- Article
VCP Associated Inclusion Body Myopathy and Paget Disease of Bone Knock-In Mouse Model Exhibits Tissue Pathology Typical of Human Disease.
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- PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0013183
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- Publication type:
- Article
Molecular mechanism for duplication 17p11.2? the homologous recombination reciprocal of the Smith-Magenis microdeletion.
- Published in:
- Nature Genetics, 2000, v. 24, n. 1, p. 84, doi. 10.1038/71743
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- Publication type:
- Article
Pathogenic variants of Valosin‐containing protein induce lysosomal damage and transcriptional activation of autophagy regulators in neuronal cells.
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- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 5, p. 1, doi. 10.1111/nan.12818
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- Publication type:
- Article
Humoral Immune Deficiency and Hemifacial Microsomia Seen in One Family.
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- Cleft Palate Craniofacial Journal, 2009, v. 46, n. 5, p. 477, doi. 10.1597/08-169.1
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- Publication type:
- Article
Subglossopalatal Synechia in Association With Cardiac and Digital Anomalies.
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- Cleft Palate Craniofacial Journal, 2008, v. 45, n. 2, p. 217, doi. 10.1597/06-181.1
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- Publication type:
- Article
Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders.
- Published in:
- Nucleic Acids Research, 2019, v. 47, n. 10, p. e59, doi. 10.1093/nar/gkz164
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- Publication type:
- Article
Myogenic differentiation of VCP disease-induced pluripotent stem cells: A novel platform for drug discovery.
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- PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0176919
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- Publication type:
- Article
Nutritional phases in Prader-Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1040, doi. 10.1002/ajmg.a.33951
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- Publication type:
- Article
An additional patient with mycophenolate mofetil embryopathy: Cardiac and facial analyses.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 748, doi. 10.1002/ajmg.a.33934
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- Publication type:
- Article
Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0157-2
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- Publication type:
- Article
Role of β-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with G<sub>M1</sub>-gangliosidosis.
- Published in:
- Human Mutation, 2005, v. 25, n. 3, p. 285, doi. 10.1002/humu.20147
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- Publication type:
- Article
A randomized pilot efficacy and safety trial of diazoxide choline controlled-release in patients with Prader-Willi syndrome.
- Published in:
- PLoS ONE, 2019, v. 14, n. 9, p. 1, doi. 10.1371/journal.pone.0221615
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- Publication type:
- Article
Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23.
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- Brain: A Journal of Neurology, 2006, v. 129, n. 9, p. 2318, doi. 10.1093/brain/awl120
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- Publication type:
- Article
The Multiple Faces of Valosin-Containing Protein-Associated Diseases: Inclusion Body Myopathy with Paget's Disease of Bone, Frontotemporal Dementia, and Amyotrophic Lateral Sclerosis.
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- Journal of Molecular Neuroscience, 2011, v. 45, n. 3, p. 522, doi. 10.1007/s12031-011-9627-y
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- Publication type:
- Article
Back Cover, Volume 43, Issue 7.
- Published in:
- Human Mutation, 2022, v. 43, n. 7, p. ii, doi. 10.1002/humu.24420
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- Publication type:
- Article
Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome.
- Published in:
- Human Mutation, 2022, v. 43, n. 7, p. 900, doi. 10.1002/humu.24375
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- Publication type:
- Article
Front Cover, Volume 40, Issue 11.
- Published in:
- Human Mutation, 2019, v. 40, n. 11, p. i, doi. 10.1002/humu.23934
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- Publication type:
- Article
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
- Published in:
- Human Mutation, 2019, v. 40, n. 11, p. 2146, doi. 10.1002/humu.23878
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- Publication type:
- Article
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.
- Published in:
- Human Mutation, 2016, v. 37, n. 8, p. 786, doi. 10.1002/humu.23004
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- Publication type:
- Article
ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.
- Published in:
- Human Mutation, 2012, v. 33, n. 12, p. 1626, doi. 10.1002/humu.22166
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- Publication type:
- Article
Genetics of hearing loss: where are we standing now?
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2012, v. 269, n. 7, p. 1733, doi. 10.1007/s00405-011-1910-6
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- Publication type:
- Article