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DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Genetic Screening of WNT4 and WNT5B in Two Populations with Deviating Bone Mineral Densities.
- Published in:
- 2017
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- Publication type:
- journal article
Association Study of Polymorphisms in the SOST Gene Region and Parameters of Bone Strength and Body Composition in Both Young and Elderly Men: Data from the Odense Androgen Study.
- Published in:
- Calcified Tissue International, 2012, v. 90, n. 1, p. 30, doi. 10.1007/s00223-011-9546-5
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- Publication type:
- Article
Common Genetic Variation in the DKK1 Gene is Associated with Hip Axis Length but not with Bone Mineral Density and Bone Turnover Markers in Young Adult Men: Results from the Odense Androgen Study.
- Published in:
- Calcified Tissue International, 2010, v. 86, n. 4, p. 271, doi. 10.1007/s00223-010-9334-7
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- Publication type:
- Article
Founder effect in different European countries for the recurrent P392L SQSTM1 mutation in Paget's Disease of Bone.
- Published in:
- 2008
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- Publication type:
- journal article
The Binding Between Sclerostin and LRP5 is Altered by DKK1 and by High-Bone Mass LRP5 Mutations.
- Published in:
- Calcified Tissue International, 2008, v. 82, n. 6, p. 445, doi. 10.1007/s00223-008-9130-9
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- Publication type:
- Article
Insights into the multifactorial causation of obesity by integrated genetic and epigenetic analysis.
- Published in:
- Obesity Reviews, 2020, v. 21, n. 7, p. 1, doi. 10.1111/obr.13019
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- Publication type:
- Article
Identification of a Novel Nonsense Variant in the DLL3 Gene Underlying Spondylocostal Dysostosis in a Consanguineous Pakistani Family.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 3, p. 191, doi. 10.1159/000527043
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- Publication type:
- Article
Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta.
- Published in:
- Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2016, v. 160, n. 3, p. 442, doi. 10.5507/bp.2016.022
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- Publication type:
- Article
Human Genetics of Sclerosing Bone Disorders.
- Published in:
- Current Osteoporosis Reports, 2018, v. 16, n. 3, p. 256, doi. 10.1007/s11914-018-0439-7
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- Publication type:
- Article
Sclerosing Bone Dysplasias: Leads Toward Novel Osteoporosis Treatments.
- Published in:
- Current Osteoporosis Reports, 2014, v. 12, n. 3, p. 243, doi. 10.1007/s11914-014-0220-5
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- Publication type:
- Article
A Mosaic Variant in CTNNB1/β-catenin as a Novel Cause for Osteopathia Striata With Cranial Sclerosis.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 7, p. 1891, doi. 10.1210/clinem/dgad757
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- Publication type:
- Article
Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features.
- Published in:
- Journal of Clinical Investigation, 2013, v. 123, n. 7, p. 3037, doi. 10.1172/JCI68035
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- Publication type:
- Article
Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans.
- Published in:
- 2007
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- Publication type:
- journal article
Evolutionary and functional analyses of LRP5 in archaic and extant modern humans.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00616-6
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- Publication type:
- Article
Cover Image, Volume 170A, Number 6, June 2016.
- Published in:
- 2016
- By:
- Publication type:
- Other
Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1479, doi. 10.1002/ajmg.a.37626
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- Publication type:
- Article
Levels of serotonin, sclerostin, bone turnover markers as well as bone density and microarchitecture in patients with high-bone-mass phenotype due to a mutation in Lrp5.
- Published in:
- Journal of Bone & Mineral Research, 2011, v. 26, n. 8, p. 1721, doi. 10.1002/jbmr.376
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- Publication type:
- Article
Identification of genetic modifiers of monogenic (bone) diseases: New tools available, but with limitations.
- Published in:
- Journal of Bone & Mineral Research, 2011, v. 26, n. 5, p. 918, doi. 10.1002/jbmr.391
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- Publication type:
- Article
Osteopathia Striata With Cranial Sclerosis Owing to WTX Gene Defect.
- Published in:
- Journal of Bone & Mineral Research, 2010, v. 25, n. 1, p. 82, doi. 10.1359/jbmr.090707
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- Publication type:
- Article
A New Heterozygous Mutation (R714C) of the Osteopetrosis Gene, Pleckstrin Homolog Domain Containing Family M (With Run Domain) Member 1 (PLEKHM1), Impairs Vesicular Acidification and Increases TRACP Secretion in Osteoclasts.
- Published in:
- Journal of Bone & Mineral Research, 2008, v. 23, n. 3, p. 380, doi. 10.1359/jbmr.071107
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- Publication type:
- Article
Identification of Sex-Specific Associations Between Polymorphisms of the Osteoprotegerin Gene, TNFRSF11B, and Paget's Disease of Bone.
- Published in:
- Journal of Bone & Mineral Research, 2007, v. 22, n. 7, p. 1062, doi. 10.1359/JBMR.070333
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- Publication type:
- Article
Novel LRP5 Missense Mutation in a Patient With a High Bone Mass Phenotype Results in Decreased DKK1-Mediated Inhibition of Wnt Signaling.
- Published in:
- Journal of Bone & Mineral Research, 2007, v. 22, n. 5, p. 708, doi. 10.1359/JBMR.070211
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- Publication type:
- Article
Polymorphisms of the CLCN7 Gene Are Associated With BMD in Women.
- Published in:
- Journal of Bone & Mineral Research, 2005, v. 20, n. 11, p. 1960, doi. 10.1359/JBMR.050717
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- Publication type:
- Article
Missense Mutations in LRP5 Are Not a Common Cause of Idiopathic Osteoporosis in Adult Men.
- Published in:
- Journal of Bone & Mineral Research, 2005, v. 20, n. 11, p. 1951, doi. 10.1359/JBMR.050705
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- Publication type:
- Article
An Autosomal Dominant High Bone Mass Phenotype in Association With Craniosynostosis in an Extended Family Is Caused by an LRP5 Missense Mutation.
- Published in:
- Journal of Bone & Mineral Research, 2005, v. 20, n. 7, p. 1254, doi. 10.1359/JBMR.050303
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- Publication type:
- Article
LRP5 and Wnt Signaling: A Union Made for Bone.
- Published in:
- Journal of Bone & Mineral Research, 2004, v. 19, n. 11, p. 1749, doi. 10.1359/JBMR.040816
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- Publication type:
- Article
Localization of the Gene Causing the Osteopetrotic Phenotype in the Incisors Absent (Ia) Rat on Chromosome 10q32.1.
- Published in:
- Journal of Bone & Mineral Research, 2004, v. 19, n. 2, p. 183, doi. 10.1359/jbmr.2004.19.2.183
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- Publication type:
- Article
Localization of the Gene Causing Autosomal Dominant Osteopetrosis Type I to Chromosome 11q12-13.
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- Journal of Bone & Mineral Research, 2002, v. 17, n. 6, p. 1111, doi. 10.1359/jbmr.2002.17.6.1111
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- Publication type:
- Article
Paget's Disease of Bone: Evidence for a Susceptibility Locus on Chromosome 18q and for Genetic Heterogeneity.
- Published in:
- Journal of Bone & Mineral Research, 1998, v. 13, n. 6, p. 911, doi. 10.1359/jbmr.1998.13.6.911
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- Publication type:
- Article
TGF-β1–induced migration of bone mesenchymal stem cells couples bone resorption with formation.
- Published in:
- Nature Medicine, 2009, v. 15, n. 7, p. 757, doi. 10.1038/nm.1979
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- Publication type:
- Article
Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.
- Published in:
- Nature Genetics, 2011, v. 43, n. 7, p. 685, doi. 10.1038/ng.845
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- Publication type:
- Article
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
- Published in:
- Nature Genetics, 2004, v. 36, n. 11, p. 1213, doi. 10.1038/ng1453
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- Publication type:
- Article
Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease.
- Published in:
- Nature Genetics, 2000, v. 26, n. 3, p. 273, doi. 10.1038/81563
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- Publication type:
- Article
Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.
- Published in:
- Nature Genetics, 2000, v. 24, n. 1, p. 45, doi. 10.1038/71667
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- Publication type:
- Article
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.
- Published in:
- Nature Genetics, 1999, v. 23, n. 1, p. 94, doi. 10.1038/12699
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- Publication type:
- Article
Fibrogenesis Imperfecta Ossium and Response to Human Growth Hormone: A Potential Therapy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders.
- Published in:
- Frontiers in Endocrinology, 2020, p. 1, doi. 10.3389/fendo.2020.00165
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- Publication type:
- Article
Replication of the SH2B1 rs7498665 Association with Obesity in a Belgian Study Population.
- Published in:
- Obesity Facts: The European Journal of Obesity, 2011, v. 4, n. 6, p. 473, doi. 10.1159/000335305
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- Publication type:
- Article
Identification and Functional Characterization of Novel Mutations in the Melanocortin-4 Receptor.
- Published in:
- Obesity Facts: The European Journal of Obesity, 2010, v. 3, n. 5, p. 304, doi. 10.1159/000321565
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- Publication type:
- Article
Patients with Van Buchem Disease, an Osteosclerotic Genetic Disease, Have Elevated Bone Formation Markers, Higher Bone Density, and Greater Derived Polar Moment of Inertia than Normal.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 12, p. 5778, doi. 10.1210/jc.2003-030201
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- Publication type:
- Article
A Mutation Affecting the Latency-Associated Peptide of TGFβ1 in Camurati-Engelmann Disease Enhances Osteoclast Formation in Vitro.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 7, p. 3321, doi. 10.1210/jc.2002-020564
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- Publication type:
- Article
Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 4, p. 1, doi. 10.1210/jendso/bvac019
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- Publication type:
- Article
The majority of the genetic risk for Paget's disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes.
- Published in:
- Human Genetics, 2010, v. 128, n. 6, p. 615, doi. 10.1007/s00439-010-0888-2
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- Publication type:
- Article
Association of SIRT1 gene variation with visceral obesity.
- Published in:
- Human Genetics, 2008, v. 124, n. 4, p. 431, doi. 10.1007/s00439-008-0567-8
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- Publication type:
- Article
Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 5, p. 400, doi. 10.1038/sj.ejhg.5201163
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- Publication type:
- Article
Clinical and molecular analysis of nine families with Adams-Oliver syndrome.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 6, p. 457, doi. 10.1038/sj.ejhg.5200980
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- Publication type:
- Article
Molecular and clinical examination of an Italian DEFECT 11 family.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 579, doi. 10.1038/sj.ejhg.5200339
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- Publication type:
- Article
Genetics of human bone formation.
- Published in:
- European Journal of Endocrinology, 2017, v. 177, n. 2, p. R69, doi. 10.1530/EJE-16-0990
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- Publication type:
- Article
Autosomal dominant osteopetrosis revisited: lessons from recent studies.
- Published in:
- European Journal of Endocrinology, 2013, v. 169, n. 2, p. R39, doi. 10.1530/EJE-13-0136
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- Publication type:
- Article