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Notch Signaling in Skeletal Stem Cells.
- Published in:
- Calcified Tissue International, 2014, v. 94, n. 1, p. 68, doi. 10.1007/s00223-013-9773-z
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- Publication type:
- Article
Effects of Aspirin on Growth Factor Release From Freshly Isolated Leukocyte-Rich Platelet-Rich Plasma in Healthy Men: A Prospective Fixed-Sequence Controlled Laboratory Study.
- Published in:
- American Journal of Sports Medicine, 2019, v. 47, n. 5, p. 1223, doi. 10.1177/0363546519827294
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- Publication type:
- Article
The long and the short of it: developmental genetics of the skeletal dysplasias.
- Published in:
- Clinical Genetics, 2000, p. 50, doi. 10.1034/j.1399-0004.2000.57SI05.x
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- Publication type:
- Article
The long and the short of it: developmental genetics of the skeletal dysplasias.
- Published in:
- Clinical Genetics, 1999, v. 57, p. 50, doi. 10.1034/j.1399-0004.2000.57si05.x
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- Publication type:
- Article
The long and the short of it: developmental genetics of the skeletal dysplasias.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 6, p. 464, doi. 10.1111/j.1399-0004.1998.tb03766.x
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- Publication type:
- Article
Genetic Evaluation for Monogenic Disorders of Low Bone Mass and Increased Bone Fragility: What Clinicians Need to Know.
- Published in:
- Current Osteoporosis Reports, 2024, v. 22, n. 3, p. 308, doi. 10.1007/s11914-024-00870-6
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- Publication type:
- Article
Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 7, p. 1787, doi. 10.1210/clinem/dgad035
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- Publication type:
- Article
Evaluation of teriparatide treatment in adults with osteogenesis imperfecta.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 2, p. 491, doi. 10.1172/JCI71101
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- Publication type:
- Article
E-selectin ligand-1 regulates growth plate homeostasis in mice by inhibiting the intracellular processing and secretion of mature TGF-beta.
- Published in:
- 2010
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- Publication type:
- journal article
Characterization of Large Deletions in the Pro-α1(III) mRNA from Two Ehlers-Danlos Type IV Patients<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1990, v. 580, n. 1, p. 552, doi. 10.1111/j.1749-6632.1990.tb17988.x
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- Publication type:
- Article
Single Exon Deletion in One COL2A1 Allele in Spondyloepiphyseal Dysplasia<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1990, v. 580, n. 1, p. 562, doi. 10.1111/j.1749-6632.1990.tb17993.x
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- Publication type:
- Article
Fibrillar Collagen Genes.
- Published in:
- Annals of the New York Academy of Sciences, 1990, v. 580, n. 1, p. 74, doi. 10.1111/j.1749-6632.1990.tb17919.x
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- Publication type:
- Article
Cranio‐cervical abnormalities in moderate‐to‐severe osteogenesis imperfecta – Genotypic and phenotypic determinants.
- Published in:
- Orthodontics & Craniofacial Research, 2024, v. 27, n. 2, p. 237, doi. 10.1111/ocr.12707
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- Publication type:
- Article
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases.
- Published in:
- Scientific Data, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41597-021-00894-y
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- Publication type:
- Article
Tendon and motor phenotypes in the Crtap<sup>-/-</sup> mouse model of recessive osteogenesis imperfecta.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.63488
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- Publication type:
- Article
Pharmacological and Biological Therapeutic Strategies for Osteogenesis Imperfecta.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 4, p. 367, doi. 10.1002/ajmg.c.31532
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- Publication type:
- Article
The Accurate Characterization of Platelet-Rich Plasma Enables Its Classification and Comparison: Response.
- Published in:
- 2023
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- Publication type:
- Letter to the Editor
Leukocyte-Rich Platelet-Rich Plasma Is Predominantly Anti-inflammatory Compared With Leukocyte-Poor Platelet-Rich Plasma in Patients With Mild-Moderate Knee Osteoarthritis: A Prospective, Descriptive Laboratory Study.
- Published in:
- American Journal of Sports Medicine, 2023, v. 51, n. 8, p. 2133, doi. 10.1177/03635465231170394
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- Publication type:
- Article
A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2267, doi. 10.1002/ajmg.a.63323
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- Publication type:
- Article
A novel, de novo intronic variant in POGZ causes White–Sutton syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2198, doi. 10.1002/ajmg.a.62747
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- Publication type:
- Article
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1868, doi. 10.1002/ajmg.a.62704
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- Publication type:
- Article
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2315, doi. 10.1002/ajmg.a.62232
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- Publication type:
- Article
Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 697, doi. 10.1002/ajmg.a.61464
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- Publication type:
- Article
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 475, doi. 10.1002/ajmg.a.61007
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- Publication type:
- Article
Dental and craniofacial characteristics caused by the p.Ser40Leu mutation in IFITM5.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 65, doi. 10.1002/ajmg.a.40383
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- Publication type:
- Article
Heterozygous WNT1 variant causing a variable bone phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2419, doi. 10.1002/ajmg.a.40347
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- Publication type:
- Article
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2789, doi. 10.1002/ajmg.a.38383
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- Publication type:
- Article
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 733, doi. 10.1002/ajmg.a.38059
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- Publication type:
- Article
Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1309, doi. 10.1002/ajmg.a.36899
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- Publication type:
- Article
FBN1 contributing to familial congenital diaphragmatic hernia.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 831, doi. 10.1002/ajmg.a.36960
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- Publication type:
- Article
WDR35 mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2917, doi. 10.1002/ajmg.a.35608
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- Publication type:
- Article
Assessment of bone mineral status in children with Marfan syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2221, doi. 10.1002/ajmg.a.35540
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- Publication type:
- Article
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1785, doi. 10.1002/ajmg.a.35391
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- Publication type:
- Article
Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM 5 gene.
- Published in:
- Journal of Bone & Mineral Research, 2013, v. 28, n. 11, p. 2333, doi. 10.1002/jbmr.1983
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- Publication type:
- Article
Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM 5 Mutation.
- Published in:
- Journal of Bone & Mineral Research, 2013, v. 28, n. 7, p. 1523, doi. 10.1002/jbmr.1891
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- Publication type:
- Article
Notch gain of function inhibits chondrocyte differentiation via Rbpj-dependent suppression of Sox9.
- Published in:
- Journal of Bone & Mineral Research, 2013, v. 28, n. 3, p. 649, doi. 10.1002/jbmr.1770
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- Publication type:
- Article
Transcriptional repression of the Dspp gene leads to dentinogenesis imperfecta phenotype in Col1a1-Trps1 transgenic mice.
- Published in:
- Journal of Bone & Mineral Research, 2012, v. 27, n. 8, p. 1735, doi. 10.1002/jbmr.1636
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- Publication type:
- Article
Mutations in SERPINF1 cause osteogenesis imperfecta type VI.
- Published in:
- Journal of Bone & Mineral Research, 2011, v. 26, n. 12, p. 2798, doi. 10.1002/jbmr.487
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- Publication type:
- Article
Runx2 contributes to murine Col10a1 gene regulation through direct interaction with its cis-enhancer.
- Published in:
- Journal of Bone & Mineral Research, 2011, v. 26, n. 12, p. 2899, doi. 10.1002/jbmr.504
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- Publication type:
- Article
Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome.
- Published in:
- Journal of Bone & Mineral Research, 2011, v. 26, n. 3, p. 666, doi. 10.1002/jbmr.250
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- Publication type:
- Article
Osteosclerosis Owing to Notch Gain of Function Is Solely Rbpj-Dependent.
- Published in:
- Journal of Bone & Mineral Research, 2010, v. 25, n. 10, p. 2175, doi. 10.1002/jbmr.115
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- Publication type:
- Article
Localization of the Cis-Enhancer Element for Mouse Type X Collagen Expression in Hypertrophic Chondrocytes In Vivo.
- Published in:
- Journal of Bone & Mineral Research, 2009, v. 24, n. 6, p. 1022, doi. 10.1359/jbmr.081249
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- Publication type:
- Article
Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta.
- Published in:
- Nature Medicine, 2014, v. 20, n. 6, p. 670, doi. 10.1038/nm.3544
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- Publication type:
- Article
Dimorphic effects of Notch signaling in bone homeostasis.
- Published in:
- Nature Medicine, 2008, v. 14, n. 3, p. 299, doi. 10.1038/nm1712
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- Publication type:
- Article
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
- Published in:
- Nature Genetics, 2008, v. 40, n. 12, p. 1466, doi. 10.1038/ng.279
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- Publication type:
- Article
Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome.
- Published in:
- Nature Genetics, 2001, v. 27, n. 2, p. 205, doi. 10.1038/84853
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- Publication type:
- Article
Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Alteration of Notch signaling in skeletal development and disease.
- Published in:
- Annals of the New York Academy of Sciences, 2010, v. 1192, n. 1, p. 257, doi. 10.1111/j.1749-6632.2009.05307.x
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- Publication type:
- Article
The transcriptional cofactor Jab1/Cops5 is crucial for BMP‐mediated mouse chondrocyte differentiation by repressing p53 activity.
- Published in:
- Journal of Cellular Physiology, 2021, v. 236, n. 8, p. 5686, doi. 10.1002/jcp.30254
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- Publication type:
- Article
Type X collagen gene regulation by Runx2 contributes directly to its hypertrophic chondrocyte—specific expression in vivo.
- Published in:
- Journal of Cell Biology, 2003, v. 162, n. 5, p. 833, doi. 10.1083/jcb.200211089
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- Publication type:
- Article