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An Additional Lrp4 High Bone Mass Mutation Mitigates the Sost-Knockout Phenotype in Mice by Increasing Bone Remodeling.
- Published in:
- Calcified Tissue International, 2024, v. 114, n. 2, p. 171, doi. 10.1007/s00223-023-01158-0
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- Publication type:
- Article
Genetic Screening of ZNF687 and PFN1 in a Paget's Disease of Bone Cohort Indicates an Important Role for the Nuclear Localization Signal of ZNF687.
- Published in:
- Calcified Tissue International, 2023, v. 113, n. 5, p. 552, doi. 10.1007/s00223-023-01137-5
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- Publication type:
- Article
Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene.
- Published in:
- Human Genetics, 2000, v. 106, n. 4, p. 425, doi. 10.1007/s004390000265
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- Publication type:
- Article
Differentiation of Induced Pluripotent Stem Cells Into Chondrocytes: Methods and Applications for Disease Modeling and Drug Discovery.
- Published in:
- Journal of Bone & Mineral Research, 2022, v. 37, n. 3, p. 397, doi. 10.1002/jbmr.4524
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- Publication type:
- Article
The Lrp4R1170Q Homozygous Knock-In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans.
- Published in:
- Journal of Bone & Mineral Research, 2017, v. 32, n. 8, p. 1739, doi. 10.1002/jbmr.3160
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- Publication type:
- Article
A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone.
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- Journal of Bone & Mineral Research, 2016, v. 31, n. 4, p. 874, doi. 10.1002/jbmr.2782
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- Publication type:
- Article
Clinical characterization of the first Belgian SCN5A founder mutation cohort.
- Published in:
- 2021
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- Publication type:
- journal article
Unexpected Severe Respiratory Insufficiency in a Newborn with Holt–Oram Syndrome.
- Published in:
- Journal of Perinatology, 2005, v. 25, n. 11, p. 745, doi. 10.1038/sj.jp.7211384
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- Publication type:
- Article
Haploinsufficiency of CMIP in a Girl With Autism Spectrum Disorder and Developmental Delay due to a De Novo Deletion on Chromosome 16q23.2.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2012, v. 5, n. 4, p. 277, doi. 10.1002/aur.1240
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- Publication type:
- Article
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 224, doi. 10.1038/ejhg.2014.61
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- Publication type:
- Article
Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.
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- European Journal of Human Genetics, 2014, v. 22, n. 5, p. 652, doi. 10.1038/ejhg.2013.220
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- Publication type:
- Article
Detection of a case of chronic myeloid leukaemia with deletions at the t(9;22) translocation breakpoints by a genome-wide non-invasive prenatal test.
- Published in:
- 2016
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- Publication type:
- journal article
A Panel-Based Sequencing Analysis of Patients with Paget's Disease of Bone Suggests Enrichment of Rare Genetic Variation in regulators of NF-κB Signaling and Supports the Importance of the 7q33 Locus.
- Published in:
- Calcified Tissue International, 2021, v. 109, n. 6, p. 656, doi. 10.1007/s00223-021-00881-w
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- Publication type:
- Article
WNT16 Requires Gα Subunits as Intracellular Partners for Both Its Canonical and Non-Canonical WNT Signalling Activity in Osteoblasts.
- Published in:
- 2020
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- Publication type:
- journal article
Genetic Variation in RIN3 in the Belgian Population Supports Its Involvement in the Pathogenesis of Paget's Disease of Bone and Modifies the Age of Onset.
- Published in:
- 2019
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- Publication type:
- journal article
Camurati-Engelmann Disease.
- Published in:
- 2019
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- Publication type:
- journal article
Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia): Reports of an Indian Kindred.
- Published in:
- Calcified Tissue International, 2014, v. 94, n. 2, p. 240, doi. 10.1007/s00223-013-9804-9
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- Publication type:
- Article
The Heterozygous Lemd3<sup> +/GT</sup> Mouse Is Not a Murine Model for Osteopoikilosis in Humans.
- Published in:
- Calcified Tissue International, 2009, v. 85, n. 6, p. 546, doi. 10.1007/s00223-009-9305-z
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- Publication type:
- Article
Increased herpes zoster risk associated with poor HLA-A immediate early 62 protein (IE62) affinity.
- Published in:
- Immunogenetics, 2018, v. 70, n. 6, p. 363, doi. 10.1007/s00251-017-1047-x
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- Publication type:
- Article
Beckwith-Wiedemann syndrome.
- Published in:
- Clinical Pediatrics, 1995, v. 34, n. 6, p. 317, doi. 10.1177/000992289503400605
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- Publication type:
- 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
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
Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis.
- Published in:
- Genes, 2022, v. 13, n. 1, p. 80, doi. 10.3390/genes13010080
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- Publication type:
- Article
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 534, doi. 10.1038/ejhg.2011.239
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- Publication type:
- Article
Nasal speech in patients with 12q15 microdeletions.
- Published in:
- 2012
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- Publication type:
- Letter
Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1032, doi. 10.1038/ejhg.2011.67
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- Publication type:
- Article
Czech dysplasia metatarsal type: another type II collagen disorder.
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- European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1269, doi. 10.1038/sj.ejhg.5201913
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- Publication type:
- Article
A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly–syndactyly syndrome.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 743, doi. 10.1038/sj.ejhg.5201833
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- Publication type:
- Article
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.
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- European Journal of Human Genetics, 2007, v. 15, n. 2, p. 150, doi. 10.1038/sj.ejhg.5201744
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- Publication type:
- Article
Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders.
- Published in:
- 2004
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- Publication type:
- Report
Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 606, doi. 10.1038/sj.ejhg.5200690
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- Publication type:
- Article
Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta.
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- 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
European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.
- Published in:
- Advances in Therapy, 2024, v. 41, n. 7, p. 2545, doi. 10.1007/s12325-024-02880-3
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- Publication type:
- Article
Mutations in the TGF-? repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
- Published in:
- Nature Genetics, 2012, v. 44, n. 11, p. 1249, doi. 10.1038/ng.2421
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- Publication type:
- Article
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
- Published in:
- Nature Genetics, 2010, v. 42, n. 6, p. 483, doi. 10.1038/ng.581
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- Publication type:
- Article
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
- Published in:
- Nature Genetics, 2008, v. 40, n. 3, p. 287, doi. 10.1038/ng.86
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- Publication type:
- Article
Speech disorders in neurofibromatosis type 1: a sample survey.
- Published in:
- International Journal of Language & Communication Disorders, 2010, v. 45, n. 5, p. 600, doi. 10.3109/13682820903312311
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- Publication type:
- Article
Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 8, p. 1049, doi. 10.1002/ajmg.b.32473
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- Publication type:
- Article
RUNX2‐related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4‐related Pyle disease.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 4, p. 434, doi. 10.1111/cge.14474
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- Publication type:
- Article
The third family with Eiken syndrome.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 4, p. 378, doi. 10.1111/cge.13601
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- Publication type:
- Article
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 3, p. 342, doi. 10.1111/cge.12990
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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
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
arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays.
- Published in:
- BMC Bioinformatics, 2005, v. 6, p. 124, doi. 10.1186/1471-2105-6-124
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- Publication type:
- Article
European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02795-2
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- Publication type:
- Article
Mutation of TBCE causes hypoparathyroidism–retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome.
- Published in:
- Nature Genetics, 2002, v. 32, n. 3, p. 448
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- Publication type:
- Article
Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.
- Published in:
- Nature Genetics, 2001, v. 28, n. 4, p. 393, doi. 10.1038/ng573
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- Publication type:
- Article
Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 6, p. 3010, doi. 10.1210/jc.2009-2218
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- Publication type:
- Article