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Response to Growth Hormone Treatment in a Patient with Insulin-Like Growth Factor 1 Receptor Deletion.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2017, v. 9, n. 4, p. 380, doi. 10.4274/jcrpe.4456
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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.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2150, doi. 10.3390/ijms24032150
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- Publication type:
- 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
Relationship of thyroid function with genetic subtypes and treatment with growth hormone in Prader–Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63724
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- Publication type:
- Article
Molecular subtype and growth hormone effects on dysmorphology in Prader–Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 169, doi. 10.1002/ajmg.a.61408
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- Publication type:
- Article
Impact of genetic subtypes of Prader–Willi syndrome with growth hormone therapy on intelligence and body mass index.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1826, doi. 10.1002/ajmg.a.61293
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- Article
Birth seasonality studies in a large Prader–Willi syndrome cohort.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1531, doi. 10.1002/ajmg.a.61263
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- Publication type:
- Article
Cover Image, Volume 179A, Number 3, March 2019.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. i, doi. 10.1002/ajmg.a.61077
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- Publication type:
- Article
ALG11‐CDG syndrome: Expanding the phenotype.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 498, doi. 10.1002/ajmg.a.61046
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- Article
Contributing factors of mortality in Prader–Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 196, doi. 10.1002/ajmg.a.60688
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- Publication type:
- Article
Newborn screening for Prader–Willi syndrome is feasible: Early diagnosis for better outcomes.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 29, doi. 10.1002/ajmg.a.60681
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- Publication type:
- Article
Phenotypic diversity of patients diagnosed with VACTERL association.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1830, doi. 10.1002/ajmg.a.40363
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- Publication type:
- Article
Comparison of perinatal factors in deletion versus uniparental disomy in Prader–Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1161, doi. 10.1002/ajmg.a.38679
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- Publication type:
- Article
Prader–Willi syndrome and early‐onset morbid obesity NIH rare disease consortium: A review of natural history study.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 368, doi. 10.1002/ajmg.a.38582
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- Publication type:
- Article
Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1663, doi. 10.1002/ajmg.a.38204
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- Publication type:
- Article
Oxytocin treatment in children with Prader-Willi syndrome: A double-blind, placebo-controlled, crossover study.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1243, doi. 10.1002/ajmg.a.38160
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- Publication type:
- Article
Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri-du-chat syndrome in addition to a partial duplication of CTNND2.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1761, doi. 10.1002/ajmg.a.36494
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- Publication type:
- Article
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 131, doi. 10.1002/ajmg.a.35700
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- Publication type:
- Article
Clinical geneticists' views of VACTERL/VATER association.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3087, doi. 10.1002/ajmg.a.35638
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- Publication type:
- Article
Cross‐sectional study of patients with VCP multisystem proteinopathy 1 using dual‐energy x‐ray absorptiometry.
- Published in:
- Muscle & Nerve, 2024, v. 69, n. 6, p. 699, doi. 10.1002/mus.28095
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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
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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- Article
VCP/p97 inhibitor CB-5083 modulates muscle pathology in a mouse model of VCP inclusion body myopathy.
- Published in:
- 2022
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- Publication type:
- journal 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.
- Published in:
- 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
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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- Article
Subglossopalatal Synechia in Association With Cardiac and Digital Anomalies.
- Published in:
- Cleft Palate Craniofacial Journal, 2008, v. 45, n. 2, p. 217, doi. 10.1597/06-181.1
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- Publication type:
- Article
Growth Charts for Prader-Willi Syndrome During Growth Hormone Treatment.
- Published in:
- Clinical Pediatrics, 2016, v. 55, n. 10, p. 957, doi. 10.1177/0009922815617973
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- Publication type:
- Article
A Fine Balance of Dietary Lipids Improves Pathology of a Murine Model of VCP-Associated Multisystem Proteinopathy.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0131995
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- Publication type:
- Article
Rapamycin and Chloroquine: The In Vitro and In Vivo Effects of Autophagy-Modifying Drugs Show Promising Results in Valosin Containing Protein Multisystem Proteinopathy.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0122888
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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.
- Published in:
- 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.
- Published in:
- PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0013183
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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
Multisystem proteinopathy: Where myopathy and motor neuron disease converge.
- Published in:
- 2021
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- Publication type:
- journal article
A progressive translational mouse model of human valosin-containing protein disease: The VCP<sup>R155H/+</sup> mouse.
- Published in:
- Muscle & Nerve, 2013, v. 47, n. 2, p. 260, doi. 10.1002/mus.23522
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- Publication type:
- Article
Nuclear localization of valosin-containing protein in normal muscle and muscle affected by inclusion-body myositis.
- Published in:
- 2007
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- Publication type:
- journal 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
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
Molecular Classes and Growth Hormone Treatment Effects on Behavior and Emotion in Patients with Prader–Willi Syndrome.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 9, p. 2572, doi. 10.3390/jcm11092572
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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.
- Published in:
- 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
Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome.
- Published in:
- 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
Radiological features of Paget disease of bone associated with VCP myopathy.
- Published in:
- Skeletal Radiology, 2012, v. 41, n. 3, p. 329, doi. 10.1007/s00256-011-1193-4
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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.
- Published in:
- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 5, p. 1, doi. 10.1111/nan.12818
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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
Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia.
- Published in:
- 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
Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice.
- Published in:
- 2022
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- Publication type:
- Letter
A clinicopathologic study of malignancy in VCP-associated multisystem proteinopathy.
- Published in:
- 2022
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- Publication type:
- journal article