Found: 35
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Novel surface expression of reticulocalbin 1 on bone endothelial cells and human prostate cancer cells is regulated by TNF-α.
- Published in:
- Journal of Cellular Biochemistry, 2008, v. 104, n. 6, p. 2298, doi. 10.1002/jcb.21785
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- Publication type:
- Article
Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 6, p. 781, doi. 10.1038/sj.ejhg.5201411
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- Publication type:
- Article
Murine Spam1 mRNA: Involvement of AU‐rich elements in the 3′UTR and antisense RNA in its tight post‐transcriptional regulation in spermatids.
- Published in:
- Molecular Reproduction & Development, 2006, v. 73, n. 2, p. 247, doi. 10.1002/mrd.20400
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- Publication type:
- Article
Polygenic inheritance of cryptorchidism susceptibility in the LE/orl rat.
- Published in:
- Molecular Human Reproduction, 2016, v. 22, n. 1, p. 18, doi. 10.1093/molehr/gav060
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- Publication type:
- Article
A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 7/8, p. 741, doi. 10.1515/jpem-2012-0080
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- Publication type:
- Article
Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 7, p. 682, doi. 10.1002/pd.2276
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- Publication type:
- Article
A phase I trial and viral clearance study of reovirus (Reolysin) in children with relapsed or refractory extra-cranial solid tumors: A Children's Oncology Group Phase I Consortium report.
- Published in:
- Pediatric Blood & Cancer, 2015, v. 62, n. 5, p. 751, doi. 10.1002/pbc.25464
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- Publication type:
- Article
Complex Diversity within Lung Disease, as Revealed by Whole-Genome Sequencing.
- Published in:
- 2019
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- Publication type:
- letter
Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2263, doi. 10.1002/ajmg.a.34150
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- Publication type:
- Article
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 706, doi. 10.1002/ajmg.a.33884
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- Publication type:
- Article
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 486, doi. 10.1002/ajmg.a.33857
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- Publication type:
- Article
CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: Two cases and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 605, doi. 10.1002/ajmg.a.33787
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- Publication type:
- Article
Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.
- Published in:
- BMC Urology, 2016, v. 16, p. 1, doi. 10.1186/s12894-016-0180-4
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- Publication type:
- Article
Paternal bias in parental origin of HRAS mutations in Costello syndrome.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 736, doi. 10.1002/humu.20381
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- Publication type:
- Article
Characterization and comparison of innate and adaptive immune responses at vaccine sites in melanoma vaccine clinical trials.
- Published in:
- Cancer Immunology, Immunotherapy, 2021, v. 70, n. 8, p. 2151, doi. 10.1007/s00262-020-02844-w
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- Publication type:
- Article
Rigor, Reproducibility, and Transparency in Shared Research Resources: Follow-Up Survey and Recommendations for Improvements.
- Published in:
- Journal of Biomolecular Techniques, 2022, v. 33, n. 3, p. 1, doi. 10.7171/3fc1f5fe.fa789303
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- Publication type:
- Article
Survey on Scientific Shared Resource Rigor and Reproducibility.
- Published in:
- Journal of Biomolecular Techniques, 2019, v. 30, n. 3, p. 36, doi. 10.7171/jbt.19-3003-001
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- Publication type:
- Article
An Integrated Approach for Analyzing Clinical Genomic Variant Data from Next-Generation Sequencing.
- Published in:
- Journal of Biomolecular Techniques, 2015, v. 26, n. 1, p. 19, doi. 10.7171/jbt.15-2601-002
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- Publication type:
- Article
Evidence for oligodendrocyte progenitor cell heterogeneity in the adult mouse brain.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-17081-7
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- Publication type:
- Article
Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1294, doi. 10.1002/ajmg.a.38174
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- Publication type:
- Article
Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1309, doi. 10.1002/ajmg.a.38178
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- Publication type:
- Article
Paternal Uniparental Disomy with Segmental Loss of Heterozygosity of Chromosome 11 are Hallmark Characteristics of Syndromic and Sporadic Embryonal Rhabdomyosarcoma.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3197, doi. 10.1002/ajmg.a.37949
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- Publication type:
- Article
A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2237, doi. 10.1002/ajmg.a.37781
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- Publication type:
- Article
Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 559, doi. 10.1002/ajmg.a.37471
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- Publication type:
- Article
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2085, doi. 10.1002/ajmg.a.37128
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- Publication type:
- Article
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 271, doi. 10.1002/ajmg.a.36863
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- Publication type:
- Article
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2240, doi. 10.1002/ajmg.a.36633
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- Publication type:
- Article
Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2420, doi. 10.1002/ajmg.a.36098
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- Publication type:
- Article
Verbal memory functioning in adolescents and young adults with costello syndrome: Evidence for relative preservation in recognition memory.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2258, doi. 10.1002/ajmg.a.36078
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- Publication type:
- Article
Normative growth charts for individuals with Costello syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2692, doi. 10.1002/ajmg.a.35534
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- Publication type:
- Article
A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2106, doi. 10.1002/ajmg.a.35449
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- Publication type:
- Article
A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay.
- Published in:
- 2012
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- Publication type:
- Other
Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1095, doi. 10.1002/ajmg.a.35294
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- Publication type:
- Article
SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR.
- Published in:
- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 4, p. 248, doi. 10.1002/mgg3.141
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- Publication type:
- Article
Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient.
- Published in:
- Frontiers in Oncology, 2017, v. 7, p. 1, doi. 10.3389/fonc.2017.00042
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- Publication type:
- Article